Incidental Mutation 'R9749:Agrn'
| ID |
732395 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agrn
|
| Ensembl Gene |
ENSMUSG00000041936 |
| Gene Name |
agrin |
| Synonyms |
Agrin, NMF380, nmf380 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.458)
|
| Stock # |
R9749 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
156249747-156281945 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 156258114 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 1083
(V1083F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137931
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071248]
[ENSMUST00000105574]
[ENSMUST00000105575]
[ENSMUST00000180572]
|
| AlphaFold |
A2ASQ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071248
AA Change: V976F
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000071229
Gene: ENSMUSG00000041936
AA Change: V976F
| 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 benign
Transcript: ENSMUST00000105574
AA Change: V976F
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000101199
Gene: ENSMUSG00000041936
AA Change: V976F
| 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 benign
Transcript: ENSMUST00000105575
AA Change: V976F
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000101200
Gene: ENSMUSG00000041936
AA Change: V976F
| 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 benign
Transcript: ENSMUST00000180572
AA Change: V1083F
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000137931
Gene: ENSMUSG00000041936
AA Change: V1083F
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.3%
|
| Validation Efficiency |
|
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
T |
A |
11: 72,080,521 (GRCm39) |
I382F |
possibly damaging |
Het |
| Adamtsl3 |
A |
G |
7: 82,099,394 (GRCm39) |
S183G |
probably benign |
Het |
| Adamtsl4 |
T |
C |
3: 95,591,457 (GRCm39) |
H170R |
probably benign |
Het |
| Adcy2 |
T |
C |
13: 68,773,974 (GRCm39) |
D1023G |
probably damaging |
Het |
| Arhgap21 |
T |
C |
2: 20,854,026 (GRCm39) |
T1789A |
probably benign |
Het |
| Atr |
T |
C |
9: 95,819,703 (GRCm39) |
|
probably null |
Het |
| Bcl2l13 |
T |
C |
6: 120,842,633 (GRCm39) |
S109P |
possibly damaging |
Het |
| Bik |
A |
T |
15: 83,425,540 (GRCm39) |
T14S |
possibly damaging |
Het |
| Car7 |
A |
G |
8: 105,275,054 (GRCm39) |
D164G |
probably damaging |
Het |
| Cat |
T |
A |
2: 103,285,445 (GRCm39) |
K499M |
probably benign |
Het |
| Ccar2 |
T |
A |
14: 70,388,728 (GRCm39) |
Q161L |
probably benign |
Het |
| Cd109 |
T |
G |
9: 78,592,166 (GRCm39) |
V760G |
probably damaging |
Het |
| Cep350 |
A |
T |
1: 155,828,985 (GRCm39) |
H246Q |
probably benign |
Het |
| Cfap91 |
A |
G |
16: 38,128,487 (GRCm39) |
I496T |
probably damaging |
Het |
| Chst13 |
T |
C |
6: 90,295,251 (GRCm39) |
D54G |
probably damaging |
Het |
| Cilk1 |
T |
A |
9: 78,060,999 (GRCm39) |
V215E |
probably damaging |
Het |
| Col4a4 |
A |
G |
1: 82,463,353 (GRCm39) |
S1046P |
unknown |
Het |
| Col6a5 |
T |
C |
9: 105,739,190 (GRCm39) |
Q2581R |
probably damaging |
Het |
| Cox5b-ps |
G |
A |
13: 21,685,515 (GRCm39) |
A25V |
probably benign |
Het |
| Csmd2 |
A |
T |
4: 128,389,921 (GRCm39) |
I2219F |
|
Het |
| Cux2 |
G |
A |
5: 122,007,780 (GRCm39) |
S627L |
possibly damaging |
Het |
| Cyp2a22 |
A |
T |
7: 26,638,715 (GRCm39) |
W24R |
probably null |
Het |
| Dhrs7c |
A |
T |
11: 67,702,479 (GRCm39) |
T156S |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 65,986,202 (GRCm39) |
V1144A |
probably damaging |
Het |
| Folh1 |
T |
C |
7: 86,368,908 (GRCm39) |
T740A |
probably damaging |
Het |
| Foxo4 |
G |
A |
X: 100,301,955 (GRCm39) |
S209N |
probably benign |
Het |
| Gm10300 |
A |
G |
4: 131,802,029 (GRCm39) |
T8A |
unknown |
Het |
| Gns |
T |
A |
10: 121,214,057 (GRCm39) |
I244N |
probably benign |
Het |
| Gsdmd |
A |
G |
15: 75,735,411 (GRCm39) |
K52E |
probably damaging |
Het |
| H1f0 |
A |
G |
15: 78,913,217 (GRCm39) |
D99G |
probably benign |
Het |
| Hapln4 |
T |
C |
8: 70,539,724 (GRCm39) |
Y252H |
probably damaging |
Het |
| Hmcn1 |
A |
C |
1: 150,632,339 (GRCm39) |
I866S |
possibly damaging |
Het |
| Hrnr |
C |
T |
3: 93,231,384 (GRCm39) |
R541C |
unknown |
Het |
| Igkv4-57-1 |
A |
G |
6: 69,521,408 (GRCm39) |
I98T |
probably damaging |
Het |
| Itih3 |
T |
A |
14: 30,641,279 (GRCm39) |
D253V |
probably damaging |
Het |
| Kansl1l |
T |
A |
1: 66,760,970 (GRCm39) |
E869D |
probably damaging |
Het |
| Kif13a |
T |
C |
13: 46,914,227 (GRCm39) |
Q502R |
probably damaging |
Het |
| Lama5 |
T |
A |
2: 179,825,433 (GRCm39) |
Q2447L |
probably benign |
Het |
| Lcn6 |
A |
T |
2: 25,570,034 (GRCm39) |
M1L |
probably benign |
Het |
| Lrrtm1 |
T |
C |
6: 77,220,855 (GRCm39) |
V104A |
probably damaging |
Het |
| Map3k13 |
T |
C |
16: 21,740,581 (GRCm39) |
L636P |
probably benign |
Het |
| Melk |
T |
A |
4: 44,307,067 (GRCm39) |
H74Q |
possibly damaging |
Het |
| Mixl1 |
A |
T |
1: 180,522,311 (GRCm39) |
M190K |
probably benign |
Het |
| Mttp |
A |
G |
3: 137,830,989 (GRCm39) |
S27P |
probably damaging |
Het |
| Myh6 |
T |
C |
14: 55,190,943 (GRCm39) |
I911V |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,956,873 (GRCm39) |
I262N |
probably benign |
Het |
| Ncapg2 |
C |
A |
12: 116,411,368 (GRCm39) |
S1051* |
probably null |
Het |
| Nckap1 |
G |
A |
2: 80,401,568 (GRCm39) |
Q39* |
probably null |
Het |
| Nemp1 |
A |
G |
10: 127,524,198 (GRCm39) |
D76G |
probably benign |
Het |
| Or12e10 |
A |
C |
2: 87,640,202 (GRCm39) |
K13Q |
probably benign |
Het |
| Or2a20 |
G |
A |
6: 43,194,258 (GRCm39) |
W137* |
probably null |
Het |
| Or2l13 |
A |
T |
16: 19,306,113 (GRCm39) |
H175L |
possibly damaging |
Het |
| Or4a2 |
T |
A |
2: 89,248,662 (GRCm39) |
I32F |
possibly damaging |
Het |
| Or8k36-ps1 |
T |
C |
2: 86,437,909 (GRCm39) |
E2G |
probably benign |
Het |
| Osbpl5 |
C |
A |
7: 143,249,308 (GRCm39) |
V578L |
probably benign |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Rabl3 |
A |
G |
16: 37,377,190 (GRCm39) |
D49G |
possibly damaging |
Het |
| Rngtt |
A |
G |
4: 33,368,618 (GRCm39) |
I384V |
possibly damaging |
Het |
| Robo1 |
T |
C |
16: 72,105,257 (GRCm39) |
|
probably benign |
Het |
| Rtcb |
C |
A |
10: 85,785,453 (GRCm39) |
R125L |
probably damaging |
Het |
| Rtn4rl2 |
C |
A |
2: 84,702,954 (GRCm39) |
R206L |
probably damaging |
Het |
| Sbk2 |
A |
T |
7: 4,960,333 (GRCm39) |
I279N |
probably benign |
Het |
| Scaf1 |
A |
G |
7: 44,656,576 (GRCm39) |
S768P |
unknown |
Het |
| Slc6a9 |
A |
G |
4: 117,721,198 (GRCm39) |
H316R |
probably damaging |
Het |
| Son |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
16: 91,453,579 (GRCm39) |
|
probably benign |
Het |
| Tas2r136 |
G |
T |
6: 132,755,106 (GRCm39) |
T7K |
probably damaging |
Het |
| Tbc1d9 |
T |
A |
8: 83,968,339 (GRCm39) |
|
probably null |
Het |
| Tekt2 |
C |
T |
4: 126,217,444 (GRCm39) |
R207H |
probably damaging |
Het |
| Tmem40 |
T |
C |
6: 115,719,306 (GRCm39) |
D53G |
probably benign |
Het |
| Tram1 |
A |
T |
1: 13,640,238 (GRCm39) |
V272D |
possibly damaging |
Het |
| Trpc4 |
G |
A |
3: 54,102,302 (GRCm39) |
D67N |
probably damaging |
Het |
| Ttc6 |
A |
T |
12: 57,701,559 (GRCm39) |
T591S |
probably benign |
Het |
| Ube2g1 |
A |
T |
11: 72,570,199 (GRCm39) |
E144V |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,544,179 (GRCm39) |
D434G |
probably damaging |
Het |
| Vmn1r168 |
C |
A |
7: 23,240,237 (GRCm39) |
N31K |
probably damaging |
Het |
| Vmn1r79 |
A |
T |
7: 11,910,450 (GRCm39) |
T111S |
probably damaging |
Het |
| Vmn2r118 |
C |
T |
17: 55,915,415 (GRCm39) |
|
probably null |
Het |
| Vps35l |
C |
A |
7: 118,352,107 (GRCm39) |
D195E |
probably benign |
Het |
| Yy1 |
A |
G |
12: 108,772,417 (GRCm39) |
D231G |
possibly damaging |
Het |
| Zfp748 |
A |
G |
13: 67,690,573 (GRCm39) |
V229A |
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 |
|
|
R0092:Agrn
|
UTSW |
4 |
156,263,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- GGCCACACTCATGTCTATGC -3'
(R):5'- ATGTGGCCAGTCTTGCTAC -3'
Sequencing Primer
(F):5'- ATGTCTATGCTGTCCTCAAGC -3'
(R):5'- CTACAGCGATCTTCAGGGAATCTG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation