Incidental Mutation 'R0092:Agrn'
| ID |
20269 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agrn
|
| Ensembl Gene |
ENSMUSG00000041936 |
| Gene Name |
agrin |
| Synonyms |
Agrin, NMF380, nmf380 |
| MMRRC Submission |
038379-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.458)
|
| Stock # |
R0092 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
4 |
| Chromosomal Location |
156249747-156281945 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 156263410 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 338
(R338H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137931
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071248]
[ENSMUST00000105574]
[ENSMUST00000105575]
[ENSMUST00000180572]
|
| AlphaFold |
A2ASQ1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071248
AA Change: R231H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000071229
Gene: ENSMUSG00000041936
AA Change: R231H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
25 |
47 |
N/A |
INTRINSIC |
|
FOLN
|
66 |
91 |
8.25e-6 |
SMART |
|
KAZAL
|
91 |
137 |
1.22e-17 |
SMART |
|
FOLN
|
142 |
166 |
7.58e-5 |
SMART |
|
EGF_like
|
142 |
181 |
7.38e1 |
SMART |
|
KAZAL
|
166 |
212 |
1.51e-13 |
SMART |
|
KAZAL
|
241 |
284 |
1.8e-6 |
SMART |
|
KAZAL
|
310 |
356 |
1.55e-10 |
SMART |
|
FOLN
|
362 |
384 |
8.25e-6 |
SMART |
|
KAZAL
|
384 |
429 |
1.14e-17 |
SMART |
|
KAZAL
|
449 |
494 |
6.43e-17 |
SMART |
|
FOLN
|
496 |
519 |
2.94e-2 |
SMART |
|
KAZAL
|
507 |
559 |
8.96e-16 |
SMART |
|
low complexity region
|
565 |
572 |
N/A |
INTRINSIC |
|
KAZAL
|
599 |
645 |
1.12e-16 |
SMART |
|
EGF_Lam
|
688 |
739 |
3.29e-15 |
SMART |
|
EGF_Lam
|
742 |
786 |
6.7e-7 |
SMART |
|
FOLN
|
795 |
817 |
1.94e-2 |
SMART |
|
KAZAL
|
817 |
864 |
3.9e-16 |
SMART |
|
low complexity region
|
889 |
906 |
N/A |
INTRINSIC |
|
low complexity region
|
949 |
978 |
N/A |
INTRINSIC |
|
SEA
|
1014 |
1139 |
5.57e-35 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105574
AA Change: R231H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101199
Gene: ENSMUSG00000041936
AA Change: R231H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
25 |
47 |
N/A |
INTRINSIC |
|
FOLN
|
66 |
91 |
8.25e-6 |
SMART |
|
KAZAL
|
91 |
137 |
1.22e-17 |
SMART |
|
FOLN
|
142 |
166 |
7.58e-5 |
SMART |
|
EGF_like
|
142 |
181 |
7.38e1 |
SMART |
|
KAZAL
|
166 |
212 |
1.51e-13 |
SMART |
|
KAZAL
|
241 |
284 |
1.8e-6 |
SMART |
|
KAZAL
|
310 |
356 |
1.55e-10 |
SMART |
|
FOLN
|
362 |
384 |
8.25e-6 |
SMART |
|
KAZAL
|
384 |
429 |
1.14e-17 |
SMART |
|
KAZAL
|
449 |
494 |
6.43e-17 |
SMART |
|
FOLN
|
496 |
519 |
2.94e-2 |
SMART |
|
KAZAL
|
507 |
559 |
8.96e-16 |
SMART |
|
low complexity region
|
565 |
572 |
N/A |
INTRINSIC |
|
KAZAL
|
599 |
645 |
1.12e-16 |
SMART |
|
EGF_Lam
|
688 |
739 |
3.29e-15 |
SMART |
|
EGF_Lam
|
742 |
786 |
6.7e-7 |
SMART |
|
FOLN
|
795 |
817 |
1.94e-2 |
SMART |
|
KAZAL
|
817 |
864 |
3.9e-16 |
SMART |
|
low complexity region
|
889 |
906 |
N/A |
INTRINSIC |
|
low complexity region
|
949 |
978 |
N/A |
INTRINSIC |
|
SEA
|
1014 |
1136 |
2.26e-35 |
SMART |
|
low complexity region
|
1142 |
1169 |
N/A |
INTRINSIC |
|
low complexity region
|
1183 |
1198 |
N/A |
INTRINSIC |
|
EGF
|
1214 |
1249 |
1.49e-4 |
SMART |
|
LamG
|
1274 |
1410 |
4e-45 |
SMART |
|
EGF
|
1434 |
1468 |
2.23e-3 |
SMART |
|
EGF
|
1473 |
1507 |
7.13e-2 |
SMART |
|
LamG
|
1542 |
1678 |
6.51e-36 |
SMART |
|
EGF
|
1699 |
1735 |
4.35e-6 |
SMART |
|
LamG
|
1771 |
1907 |
5.01e-37 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105575
AA Change: R231H
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101200
Gene: ENSMUSG00000041936
AA Change: R231H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
25 |
47 |
N/A |
INTRINSIC |
|
FOLN
|
66 |
91 |
8.25e-6 |
SMART |
|
KAZAL
|
91 |
137 |
1.22e-17 |
SMART |
|
FOLN
|
142 |
166 |
7.58e-5 |
SMART |
|
EGF_like
|
142 |
181 |
7.38e1 |
SMART |
|
KAZAL
|
166 |
212 |
1.51e-13 |
SMART |
|
KAZAL
|
241 |
284 |
1.8e-6 |
SMART |
|
KAZAL
|
310 |
356 |
1.55e-10 |
SMART |
|
FOLN
|
362 |
384 |
8.25e-6 |
SMART |
|
KAZAL
|
384 |
429 |
1.14e-17 |
SMART |
|
KAZAL
|
449 |
494 |
6.43e-17 |
SMART |
|
FOLN
|
496 |
519 |
2.94e-2 |
SMART |
|
KAZAL
|
507 |
559 |
8.96e-16 |
SMART |
|
low complexity region
|
565 |
572 |
N/A |
INTRINSIC |
|
KAZAL
|
599 |
645 |
1.12e-16 |
SMART |
|
EGF_Lam
|
688 |
739 |
3.29e-15 |
SMART |
|
EGF_Lam
|
742 |
786 |
6.7e-7 |
SMART |
|
FOLN
|
795 |
817 |
1.94e-2 |
SMART |
|
KAZAL
|
817 |
864 |
3.9e-16 |
SMART |
|
low complexity region
|
889 |
906 |
N/A |
INTRINSIC |
|
low complexity region
|
949 |
978 |
N/A |
INTRINSIC |
|
SEA
|
1014 |
1136 |
2.26e-35 |
SMART |
|
low complexity region
|
1142 |
1169 |
N/A |
INTRINSIC |
|
low complexity region
|
1183 |
1198 |
N/A |
INTRINSIC |
|
EGF
|
1214 |
1249 |
1.49e-4 |
SMART |
|
LamG
|
1274 |
1410 |
4e-45 |
SMART |
|
EGF
|
1434 |
1468 |
2.23e-3 |
SMART |
|
EGF
|
1473 |
1507 |
7.13e-2 |
SMART |
|
LamG
|
1542 |
1682 |
9.2e-36 |
SMART |
|
EGF
|
1703 |
1739 |
4.35e-6 |
SMART |
|
LamG
|
1794 |
1930 |
5.01e-37 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000180572
AA Change: R338H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137931
Gene: ENSMUSG00000041936
AA Change: R338H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
Pfam:NtA
|
32 |
159 |
5.1e-91 |
PFAM |
|
FOLN
|
173 |
198 |
8.25e-6 |
SMART |
|
KAZAL
|
198 |
244 |
1.22e-17 |
SMART |
|
FOLN
|
249 |
273 |
7.58e-5 |
SMART |
|
EGF_like
|
249 |
288 |
7.38e1 |
SMART |
|
KAZAL
|
273 |
319 |
1.51e-13 |
SMART |
|
KAZAL
|
348 |
391 |
1.8e-6 |
SMART |
|
KAZAL
|
417 |
463 |
1.55e-10 |
SMART |
|
FOLN
|
469 |
491 |
8.25e-6 |
SMART |
|
KAZAL
|
491 |
536 |
1.14e-17 |
SMART |
|
KAZAL
|
556 |
601 |
6.43e-17 |
SMART |
|
FOLN
|
603 |
626 |
2.94e-2 |
SMART |
|
KAZAL
|
614 |
666 |
8.96e-16 |
SMART |
|
low complexity region
|
672 |
679 |
N/A |
INTRINSIC |
|
KAZAL
|
706 |
752 |
1.12e-16 |
SMART |
|
EGF_Lam
|
795 |
846 |
3.29e-15 |
SMART |
|
EGF_Lam
|
849 |
893 |
6.7e-7 |
SMART |
|
FOLN
|
902 |
924 |
1.94e-2 |
SMART |
|
KAZAL
|
924 |
971 |
3.9e-16 |
SMART |
|
low complexity region
|
996 |
1013 |
N/A |
INTRINSIC |
|
low complexity region
|
1056 |
1085 |
N/A |
INTRINSIC |
|
SEA
|
1121 |
1243 |
2.26e-35 |
SMART |
|
low complexity region
|
1249 |
1276 |
N/A |
INTRINSIC |
|
low complexity region
|
1290 |
1305 |
N/A |
INTRINSIC |
|
EGF
|
1321 |
1356 |
1.49e-4 |
SMART |
|
LamG
|
1381 |
1517 |
4e-45 |
SMART |
|
EGF
|
1541 |
1575 |
2.23e-3 |
SMART |
|
EGF
|
1580 |
1614 |
7.13e-2 |
SMART |
|
LamG
|
1649 |
1785 |
6.51e-36 |
SMART |
|
EGF
|
1806 |
1842 |
4.35e-6 |
SMART |
|
LamG
|
1878 |
2014 |
5.01e-37 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181062
|
| Meta Mutation Damage Score |
0.2637 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 88.6%
|
| Validation Efficiency |
99% (112/113) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]
PHENOTYPE: Nullizygous mice display embryonic failure of NMJ formation, inability to breathe or move and perinatal lethality. Homozygotes for an ENU-induced allele show poor hindlimb motor control, myopathy, muscle atrophy, spasms and fiber-type switching, NMJ disaggregation, camptodactyly and premature death. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(12) : Targeted, knock-out(4) Targeted, other(1) Gene trapped(7) |
| Other mutations in this stock |
Total: 94 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg2 |
T |
A |
6: 58,662,762 (GRCm39) |
S535T |
probably benign |
Het |
| Acad11 |
A |
T |
9: 103,967,540 (GRCm39) |
|
probably benign |
Het |
| Acadm |
A |
T |
3: 153,647,512 (GRCm39) |
|
probably benign |
Het |
| Acot12 |
T |
A |
13: 91,889,684 (GRCm39) |
M12K |
probably damaging |
Het |
| Actr2 |
A |
T |
11: 20,044,308 (GRCm39) |
N99K |
probably benign |
Het |
| Adam2 |
G |
A |
14: 66,291,336 (GRCm39) |
A314V |
probably damaging |
Het |
| Agl |
C |
T |
3: 116,587,453 (GRCm39) |
R34Q |
probably damaging |
Het |
| AI661453 |
A |
G |
17: 47,778,440 (GRCm39) |
|
probably benign |
Het |
| Alpk3 |
A |
G |
7: 80,742,301 (GRCm39) |
D706G |
probably benign |
Het |
| Apbb1 |
T |
C |
7: 105,208,361 (GRCm39) |
E648G |
probably damaging |
Het |
| Astn2 |
C |
A |
4: 66,322,219 (GRCm39) |
A127S |
unknown |
Het |
| Asxl2 |
T |
C |
12: 3,546,313 (GRCm39) |
S366P |
probably benign |
Het |
| Bdh1 |
A |
T |
16: 31,266,380 (GRCm39) |
K92* |
probably null |
Het |
| Bltp1 |
A |
G |
3: 37,082,308 (GRCm39) |
D3790G |
probably benign |
Het |
| Cacna1g |
C |
T |
11: 94,348,090 (GRCm39) |
S666N |
probably damaging |
Het |
| Ces2b |
A |
G |
8: 105,563,144 (GRCm39) |
T361A |
possibly damaging |
Het |
| Col6a4 |
T |
A |
9: 105,890,513 (GRCm39) |
E1927V |
probably benign |
Het |
| Ctnnb1 |
T |
G |
9: 120,781,929 (GRCm39) |
I314S |
possibly damaging |
Het |
| Cyp2c66 |
T |
C |
19: 39,172,224 (GRCm39) |
|
probably benign |
Het |
| Dennd4c |
T |
A |
4: 86,699,844 (GRCm39) |
F232I |
probably damaging |
Het |
| Dennd5a |
T |
C |
7: 109,499,013 (GRCm39) |
N950S |
possibly damaging |
Het |
| Dhx30 |
T |
C |
9: 109,914,078 (GRCm39) |
N14S |
possibly damaging |
Het |
| Dip2b |
T |
A |
15: 100,100,146 (GRCm39) |
V1004D |
probably damaging |
Het |
| Dnah1 |
A |
C |
14: 30,993,566 (GRCm39) |
S2872A |
probably benign |
Het |
| Dnajc10 |
T |
C |
2: 80,156,026 (GRCm39) |
V233A |
probably damaging |
Het |
| E230025N22Rik |
A |
G |
18: 36,822,277 (GRCm39) |
L162P |
probably damaging |
Het |
| Elmod3 |
T |
C |
6: 72,543,792 (GRCm39) |
D333G |
probably benign |
Het |
| Epb41l3 |
T |
A |
17: 69,593,745 (GRCm39) |
M846K |
probably damaging |
Het |
| Frem2 |
A |
G |
3: 53,497,217 (GRCm39) |
Y1766H |
probably benign |
Het |
| Fxr2 |
T |
C |
11: 69,532,972 (GRCm39) |
|
probably benign |
Het |
| Gmpr2 |
A |
G |
14: 55,915,402 (GRCm39) |
R258G |
probably benign |
Het |
| Helb |
T |
C |
10: 119,925,713 (GRCm39) |
Y888C |
probably damaging |
Het |
| Hephl1 |
TTCCAGATGTCC |
TTCC |
9: 15,001,899 (GRCm39) |
|
probably null |
Het |
| Hipk2 |
T |
C |
6: 38,720,164 (GRCm39) |
D482G |
probably damaging |
Het |
| Itgb4 |
G |
T |
11: 115,869,950 (GRCm39) |
R44L |
probably damaging |
Het |
| Itih1 |
T |
C |
14: 30,662,820 (GRCm39) |
|
probably benign |
Het |
| Kit |
T |
A |
5: 75,808,414 (GRCm39) |
S719R |
possibly damaging |
Het |
| Krt13 |
G |
A |
11: 100,012,258 (GRCm39) |
Q22* |
probably null |
Het |
| L3mbtl4 |
A |
C |
17: 68,732,698 (GRCm39) |
R59S |
probably benign |
Het |
| Lpp |
A |
G |
16: 24,580,352 (GRCm39) |
S23G |
probably benign |
Het |
| Magi3 |
G |
A |
3: 103,958,280 (GRCm39) |
Q602* |
probably null |
Het |
| Man2a1 |
A |
G |
17: 64,966,079 (GRCm39) |
|
probably benign |
Het |
| Muc5ac |
A |
G |
7: 141,372,367 (GRCm39) |
E2667G |
possibly damaging |
Het |
| Myef2l |
G |
A |
3: 10,153,633 (GRCm39) |
C134Y |
possibly damaging |
Het |
| Myo15b |
C |
G |
11: 115,753,812 (GRCm39) |
S842C |
possibly damaging |
Het |
| Naf1 |
T |
A |
8: 67,341,760 (GRCm39) |
S462T |
probably benign |
Het |
| Necab3 |
T |
C |
2: 154,400,659 (GRCm39) |
D34G |
possibly damaging |
Het |
| Nisch |
C |
A |
14: 30,913,410 (GRCm39) |
|
probably benign |
Het |
| Nlrc5 |
T |
C |
8: 95,216,222 (GRCm39) |
|
probably benign |
Het |
| Nmt1 |
T |
C |
11: 102,937,319 (GRCm39) |
F119L |
probably damaging |
Het |
| Nod1 |
T |
G |
6: 54,921,526 (GRCm39) |
D264A |
probably damaging |
Het |
| Nol8 |
C |
T |
13: 49,815,923 (GRCm39) |
A677V |
possibly damaging |
Het |
| Nt5e |
T |
A |
9: 88,252,338 (GRCm39) |
F567I |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,942,073 (GRCm39) |
M4434K |
possibly damaging |
Het |
| Opa1 |
A |
T |
16: 29,444,412 (GRCm39) |
D866V |
probably damaging |
Het |
| Or10a3m |
T |
C |
7: 108,313,031 (GRCm39) |
V145A |
probably benign |
Het |
| Or10al3 |
T |
G |
17: 38,011,696 (GRCm39) |
L45R |
probably damaging |
Het |
| Or10p1 |
A |
G |
10: 129,444,090 (GRCm39) |
S87P |
probably damaging |
Het |
| Or1j21 |
A |
G |
2: 36,683,508 (GRCm39) |
T87A |
probably benign |
Het |
| Or51ai2 |
T |
C |
7: 103,586,934 (GRCm39) |
S116P |
probably damaging |
Het |
| Otop1 |
T |
A |
5: 38,457,174 (GRCm39) |
V311E |
probably damaging |
Het |
| Pcsk2 |
A |
G |
2: 143,642,944 (GRCm39) |
D407G |
probably damaging |
Het |
| Pdcd1 |
A |
G |
1: 93,980,149 (GRCm39) |
W23R |
possibly damaging |
Het |
| Pigp |
A |
G |
16: 94,166,321 (GRCm39) |
V129A |
probably damaging |
Het |
| Pik3r5 |
A |
G |
11: 68,383,629 (GRCm39) |
R483G |
probably benign |
Het |
| Pink1 |
A |
G |
4: 138,047,309 (GRCm39) |
V225A |
probably benign |
Het |
| Plcl1 |
C |
G |
1: 55,735,924 (GRCm39) |
Q422E |
probably damaging |
Het |
| Plec |
T |
C |
15: 76,067,943 (GRCm39) |
E1222G |
probably benign |
Het |
| Polr1a |
T |
C |
6: 71,944,439 (GRCm39) |
|
probably benign |
Het |
| Prokr2 |
C |
T |
2: 132,215,517 (GRCm39) |
V154M |
probably damaging |
Het |
| Rasgrp4 |
A |
G |
7: 28,844,557 (GRCm39) |
R280G |
possibly damaging |
Het |
| Rmnd5b |
T |
C |
11: 51,520,419 (GRCm39) |
E8G |
possibly damaging |
Het |
| Sbf2 |
T |
A |
7: 109,920,013 (GRCm39) |
|
probably benign |
Het |
| Sec23b |
A |
G |
2: 144,408,830 (GRCm39) |
M172V |
probably benign |
Het |
| Setx |
T |
C |
2: 29,036,305 (GRCm39) |
V930A |
probably benign |
Het |
| Sft2d2 |
G |
A |
1: 165,006,829 (GRCm39) |
A159V |
possibly damaging |
Het |
| Sh3gl1 |
G |
T |
17: 56,325,088 (GRCm39) |
R250S |
probably benign |
Het |
| Skor1 |
C |
A |
9: 63,053,277 (GRCm39) |
D231Y |
probably damaging |
Het |
| Slc24a1 |
T |
G |
9: 64,856,034 (GRCm39) |
E291A |
unknown |
Het |
| Slc28a2b |
G |
T |
2: 122,348,078 (GRCm39) |
|
probably benign |
Het |
| Smc1b |
A |
T |
15: 84,951,925 (GRCm39) |
|
probably benign |
Het |
| Tbccd1 |
A |
T |
16: 22,644,844 (GRCm39) |
N177K |
possibly damaging |
Het |
| Tdp1 |
T |
A |
12: 99,921,248 (GRCm39) |
Y595N |
probably damaging |
Het |
| Tle5 |
G |
A |
10: 81,397,054 (GRCm39) |
G10D |
possibly damaging |
Het |
| Tmem108 |
T |
C |
9: 103,366,504 (GRCm39) |
K496E |
possibly damaging |
Het |
| Tmprss7 |
T |
C |
16: 45,487,959 (GRCm39) |
D490G |
probably damaging |
Het |
| Tnrc6b |
A |
T |
15: 80,802,729 (GRCm39) |
N1511Y |
probably damaging |
Het |
| Top2b |
G |
A |
14: 16,409,263 (GRCm38) |
R802Q |
probably damaging |
Het |
| Trip10 |
A |
T |
17: 57,557,798 (GRCm39) |
K27N |
possibly damaging |
Het |
| Txlnb |
A |
G |
10: 17,718,503 (GRCm39) |
N445D |
possibly damaging |
Het |
| Txnrd1 |
T |
A |
10: 82,715,636 (GRCm39) |
I159N |
probably damaging |
Het |
| Ulk1 |
C |
A |
5: 110,944,193 (GRCm39) |
A164S |
probably null |
Het |
| Vmn2r83 |
T |
C |
10: 79,327,798 (GRCm39) |
V802A |
probably damaging |
Het |
| Zbtb4 |
A |
G |
11: 69,670,177 (GRCm39) |
I967V |
probably benign |
Het |
|
| Other mutations in Agrn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00479:Agrn
|
APN |
4 |
156,255,029 (GRCm39) |
splice site |
probably benign |
|
|
IGL00811:Agrn
|
APN |
4 |
156,253,231 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL01066:Agrn
|
APN |
4 |
156,261,800 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01412:Agrn
|
APN |
4 |
156,255,491 (GRCm39) |
splice site |
probably benign |
|
|
IGL01414:Agrn
|
APN |
4 |
156,279,696 (GRCm39) |
splice site |
probably null |
|
|
IGL02075:Agrn
|
APN |
4 |
156,254,667 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL02609:Agrn
|
APN |
4 |
156,259,680 (GRCm39) |
splice site |
probably benign |
|
|
IGL02669:Agrn
|
APN |
4 |
156,259,018 (GRCm39) |
splice site |
probably benign |
|
|
IGL02671:Agrn
|
APN |
4 |
156,259,018 (GRCm39) |
splice site |
probably benign |
|
|
IGL02672:Agrn
|
APN |
4 |
156,259,018 (GRCm39) |
splice site |
probably benign |
|
|
IGL02674:Agrn
|
APN |
4 |
156,259,018 (GRCm39) |
splice site |
probably benign |
|
|
IGL02724:Agrn
|
APN |
4 |
156,257,264 (GRCm39) |
nonsense |
probably null |
|
|
IGL02804:Agrn
|
APN |
4 |
156,258,512 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02986:Agrn
|
APN |
4 |
156,263,311 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL03160:Agrn
|
APN |
4 |
156,254,820 (GRCm39) |
missense |
probably damaging |
0.98 |
|
BB004:Agrn
|
UTSW |
4 |
156,257,266 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB014:Agrn
|
UTSW |
4 |
156,257,266 (GRCm39) |
missense |
probably damaging |
0.99 |
|
F6893:Agrn
|
UTSW |
4 |
156,258,636 (GRCm39) |
missense |
probably benign |
|
|
R0100:Agrn
|
UTSW |
4 |
156,259,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0100:Agrn
|
UTSW |
4 |
156,259,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0482:Agrn
|
UTSW |
4 |
156,258,012 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0531:Agrn
|
UTSW |
4 |
156,263,891 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0536:Agrn
|
UTSW |
4 |
156,264,010 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0690:Agrn
|
UTSW |
4 |
156,258,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0750:Agrn
|
UTSW |
4 |
156,251,394 (GRCm39) |
nonsense |
probably null |
|
|
R1079:Agrn
|
UTSW |
4 |
156,261,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1199:Agrn
|
UTSW |
4 |
156,256,756 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1222:Agrn
|
UTSW |
4 |
156,261,842 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1534:Agrn
|
UTSW |
4 |
156,261,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1587:Agrn
|
UTSW |
4 |
156,263,897 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1625:Agrn
|
UTSW |
4 |
156,257,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1698:Agrn
|
UTSW |
4 |
156,251,015 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1717:Agrn
|
UTSW |
4 |
156,250,976 (GRCm39) |
frame shift |
probably null |
|
|
R1718:Agrn
|
UTSW |
4 |
156,250,976 (GRCm39) |
frame shift |
probably null |
|
|
R1721:Agrn
|
UTSW |
4 |
156,259,630 (GRCm39) |
nonsense |
probably null |
|
|
R1765:Agrn
|
UTSW |
4 |
156,261,284 (GRCm39) |
nonsense |
probably null |
|
|
R1840:Agrn
|
UTSW |
4 |
156,251,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1865:Agrn
|
UTSW |
4 |
156,250,976 (GRCm39) |
frame shift |
probably null |
|
|
R2105:Agrn
|
UTSW |
4 |
156,261,756 (GRCm39) |
nonsense |
probably null |
|
|
R2265:Agrn
|
UTSW |
4 |
156,263,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2266:Agrn
|
UTSW |
4 |
156,263,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2269:Agrn
|
UTSW |
4 |
156,263,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2382:Agrn
|
UTSW |
4 |
156,260,973 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2497:Agrn
|
UTSW |
4 |
156,258,268 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2509:Agrn
|
UTSW |
4 |
156,250,881 (GRCm39) |
splice site |
probably null |
|
|
R2510:Agrn
|
UTSW |
4 |
156,250,881 (GRCm39) |
splice site |
probably null |
|
|
R2511:Agrn
|
UTSW |
4 |
156,250,881 (GRCm39) |
splice site |
probably null |
|
|
R2994:Agrn
|
UTSW |
4 |
156,251,785 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3824:Agrn
|
UTSW |
4 |
156,253,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4736:Agrn
|
UTSW |
4 |
156,256,858 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4755:Agrn
|
UTSW |
4 |
156,257,979 (GRCm39) |
intron |
probably benign |
|
|
R4853:Agrn
|
UTSW |
4 |
156,270,007 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4878:Agrn
|
UTSW |
4 |
156,255,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5117:Agrn
|
UTSW |
4 |
156,270,010 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5228:Agrn
|
UTSW |
4 |
156,251,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5236:Agrn
|
UTSW |
4 |
156,263,315 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5269:Agrn
|
UTSW |
4 |
156,253,447 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5282:Agrn
|
UTSW |
4 |
156,257,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5449:Agrn
|
UTSW |
4 |
156,251,737 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5560:Agrn
|
UTSW |
4 |
156,262,954 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5668:Agrn
|
UTSW |
4 |
156,251,770 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5725:Agrn
|
UTSW |
4 |
156,258,332 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5967:Agrn
|
UTSW |
4 |
156,259,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6226:Agrn
|
UTSW |
4 |
156,258,066 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6338:Agrn
|
UTSW |
4 |
156,255,042 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6351:Agrn
|
UTSW |
4 |
156,263,891 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6437:Agrn
|
UTSW |
4 |
156,261,235 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6490:Agrn
|
UTSW |
4 |
156,251,819 (GRCm39) |
nonsense |
probably null |
|
|
R6909:Agrn
|
UTSW |
4 |
156,261,464 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7110:Agrn
|
UTSW |
4 |
156,263,332 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7123:Agrn
|
UTSW |
4 |
156,257,297 (GRCm39) |
missense |
probably benign |
|
|
R7163:Agrn
|
UTSW |
4 |
156,262,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7180:Agrn
|
UTSW |
4 |
156,256,296 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7251:Agrn
|
UTSW |
4 |
156,259,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7289:Agrn
|
UTSW |
4 |
156,263,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7335:Agrn
|
UTSW |
4 |
156,260,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7336:Agrn
|
UTSW |
4 |
156,259,371 (GRCm39) |
nonsense |
probably null |
|
|
R7406:Agrn
|
UTSW |
4 |
156,256,758 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7460:Agrn
|
UTSW |
4 |
156,258,881 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7531:Agrn
|
UTSW |
4 |
156,254,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7585:Agrn
|
UTSW |
4 |
156,255,131 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7646:Agrn
|
UTSW |
4 |
156,279,811 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7652:Agrn
|
UTSW |
4 |
156,253,675 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7714:Agrn
|
UTSW |
4 |
156,279,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7751:Agrn
|
UTSW |
4 |
156,260,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7852:Agrn
|
UTSW |
4 |
156,253,514 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7927:Agrn
|
UTSW |
4 |
156,257,266 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8039:Agrn
|
UTSW |
4 |
156,253,468 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8056:Agrn
|
UTSW |
4 |
156,254,868 (GRCm39) |
missense |
probably benign |
|
|
R8061:Agrn
|
UTSW |
4 |
156,263,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8158:Agrn
|
UTSW |
4 |
156,258,346 (GRCm39) |
missense |
probably benign |
|
|
R8159:Agrn
|
UTSW |
4 |
156,256,825 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8325:Agrn
|
UTSW |
4 |
156,258,119 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8338:Agrn
|
UTSW |
4 |
156,253,018 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8739:Agrn
|
UTSW |
4 |
156,257,045 (GRCm39) |
missense |
probably benign |
|
|
R8956:Agrn
|
UTSW |
4 |
156,250,995 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9094:Agrn
|
UTSW |
4 |
156,253,264 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9112:Agrn
|
UTSW |
4 |
156,261,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9384:Agrn
|
UTSW |
4 |
156,257,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9472:Agrn
|
UTSW |
4 |
156,254,841 (GRCm39) |
missense |
|
|
|
R9619:Agrn
|
UTSW |
4 |
156,258,490 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9629:Agrn
|
UTSW |
4 |
156,257,094 (GRCm39) |
nonsense |
probably null |
|
|
R9732:Agrn
|
UTSW |
4 |
156,258,446 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9749:Agrn
|
UTSW |
4 |
156,258,114 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9757:Agrn
|
UTSW |
4 |
156,261,235 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9792:Agrn
|
UTSW |
4 |
156,261,129 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9793:Agrn
|
UTSW |
4 |
156,261,129 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1177:Agrn
|
UTSW |
4 |
156,264,033 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1177:Agrn
|
UTSW |
4 |
156,256,001 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCATTGACCAGAGCGCACTTTC -3'
(R):5'- TGGCAGTGATGGTGTTGACTACCC -3'
Sequencing Primer
(F):5'- TTCTGGAGAAGCAGGCCAC -3'
(R):5'- GTTGACTACCCTAGTGAGTGCC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation