Incidental Mutation 'R0630:Adgrl2'
| ID |
57817 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adgrl2
|
| Ensembl Gene |
ENSMUSG00000028184 |
| Gene Name |
adhesion G protein-coupled receptor L2 |
| Synonyms |
Lphn2, Lphh1, Lec1 |
| MMRRC Submission |
038819-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0630 (G1)
|
| Quality Score |
191 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
148521219-148696191 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 148544880 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 659
(I659M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106128]
[ENSMUST00000195988]
[ENSMUST00000196526]
[ENSMUST00000197567]
[ENSMUST00000198779]
[ENSMUST00000199750]
[ENSMUST00000199059]
[ENSMUST00000199238]
[ENSMUST00000200154]
[ENSMUST00000200543]
|
| AlphaFold |
Q8JZZ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106128
AA Change: I738M
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000101734
Gene: ENSMUSG00000028184
AA Change: I738M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
2.5e-26 |
PFAM |
|
OLF
|
142 |
398 |
5.22e-140 |
SMART |
|
HormR
|
469 |
534 |
3.14e-20 |
SMART |
|
Pfam:GAIN
|
537 |
764 |
1.3e-58 |
PFAM |
|
GPS
|
788 |
840 |
3.47e-25 |
SMART |
|
Pfam:7tm_2
|
848 |
1108 |
4.6e-69 |
PFAM |
|
Pfam:Latrophilin
|
1128 |
1487 |
6.4e-181 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195988
AA Change: I738M
PolyPhen 2
Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000143444
Gene: ENSMUSG00000028184
AA Change: I738M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
3.3e-23 |
PFAM |
|
OLF
|
142 |
398 |
3.3e-142 |
SMART |
|
HormR
|
469 |
534 |
2e-22 |
SMART |
|
GPS
|
788 |
840 |
2.1e-27 |
SMART |
|
Pfam:7tm_2
|
848 |
1099 |
8.1e-66 |
PFAM |
|
Pfam:Latrophilin
|
1119 |
1189 |
2.2e-28 |
PFAM |
|
Pfam:Latrophilin
|
1184 |
1435 |
5.5e-123 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196526
AA Change: I721M
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000143788
Gene: ENSMUSG00000028184
AA Change: I721M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
8.7e-24 |
PFAM |
|
OLF
|
138 |
394 |
3.4e-142 |
SMART |
|
HormR
|
465 |
530 |
2e-22 |
SMART |
|
Pfam:GAIN
|
533 |
747 |
1.1e-54 |
PFAM |
|
GPS
|
771 |
823 |
2.2e-27 |
SMART |
|
Pfam:7tm_2
|
831 |
1067 |
6.5e-68 |
PFAM |
|
Pfam:Latrophilin
|
1087 |
1158 |
9.9e-36 |
PFAM |
|
low complexity region
|
1163 |
1173 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197521
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197567
AA Change: I738M
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000143626
Gene: ENSMUSG00000028184
AA Change: I738M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
1.9e-26 |
PFAM |
|
OLF
|
142 |
398 |
5.22e-140 |
SMART |
|
HormR
|
469 |
534 |
3.14e-20 |
SMART |
|
Pfam:GAIN
|
537 |
764 |
1.1e-58 |
PFAM |
|
GPS
|
788 |
840 |
3.47e-25 |
SMART |
|
Pfam:7tm_2
|
848 |
1108 |
6.4e-69 |
PFAM |
|
Pfam:Latrophilin
|
1128 |
1487 |
2.8e-181 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197925
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198779
AA Change: I738M
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000142347
Gene: ENSMUSG00000028184
AA Change: I738M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
3.4e-23 |
PFAM |
|
OLF
|
142 |
398 |
3.3e-142 |
SMART |
|
HormR
|
469 |
534 |
2e-22 |
SMART |
|
GPS
|
788 |
840 |
2.1e-27 |
SMART |
|
Pfam:7tm_2
|
848 |
1084 |
1.8e-66 |
PFAM |
|
Pfam:Latrophilin
|
1104 |
1452 |
7e-174 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199750
AA Change: I659M
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143320
Gene: ENSMUSG00000028184
AA Change: I659M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
3.1e-23 |
PFAM |
|
OLF
|
142 |
398 |
3.3e-142 |
SMART |
|
HormR
|
403 |
468 |
1.9e-22 |
SMART |
|
GPS
|
709 |
761 |
2.1e-27 |
SMART |
|
Pfam:7tm_2
|
769 |
1005 |
1.6e-66 |
PFAM |
|
Pfam:Latrophilin
|
1025 |
1095 |
2e-28 |
PFAM |
|
Pfam:Latrophilin
|
1090 |
1341 |
4.9e-123 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199059
AA Change: I738M
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000143150
Gene: ENSMUSG00000028184
AA Change: I738M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
3.4e-23 |
PFAM |
|
OLF
|
142 |
398 |
3.3e-142 |
SMART |
|
HormR
|
469 |
534 |
2e-22 |
SMART |
|
GPS
|
788 |
840 |
2.1e-27 |
SMART |
|
Pfam:7tm_2
|
848 |
1099 |
8.3e-66 |
PFAM |
|
Pfam:Latrophilin
|
1119 |
1467 |
7.1e-174 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199238
AA Change: I738M
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000142405
Gene: ENSMUSG00000028184
AA Change: I738M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
3.4e-23 |
PFAM |
|
OLF
|
142 |
398 |
3.3e-142 |
SMART |
|
HormR
|
469 |
534 |
2e-22 |
SMART |
|
GPS
|
788 |
840 |
2.1e-27 |
SMART |
|
Pfam:7tm_2
|
848 |
1099 |
8.4e-66 |
PFAM |
|
Pfam:Latrophilin
|
1119 |
1478 |
1.6e-187 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200154
AA Change: I721M
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000142865
Gene: ENSMUSG00000028184
AA Change: I721M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
2.5e-23 |
PFAM |
|
OLF
|
138 |
394 |
3.3e-142 |
SMART |
|
HormR
|
465 |
530 |
2e-22 |
SMART |
|
GPS
|
771 |
823 |
2.1e-27 |
SMART |
|
Pfam:7tm_2
|
831 |
1067 |
1.2e-66 |
PFAM |
|
Pfam:Latrophilin
|
1087 |
1123 |
2.2e-4 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200543
AA Change: I721M
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000142336
Gene: ENSMUSG00000028184
AA Change: I721M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
3.2e-23 |
PFAM |
|
OLF
|
138 |
394 |
3.3e-142 |
SMART |
|
HormR
|
465 |
530 |
2e-22 |
SMART |
|
GPS
|
771 |
823 |
2.1e-27 |
SMART |
|
Pfam:7tm_2
|
831 |
1067 |
1.7e-66 |
PFAM |
|
Pfam:Latrophilin
|
1087 |
1157 |
2.1e-28 |
PFAM |
|
Pfam:Latrophilin
|
1152 |
1403 |
5.3e-123 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.9%
- 20x: 96.2%
|
| Validation Efficiency |
97% (108/111) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors. The encoded protein participates in the regulation of exocytosis. The proprotein is thought to be further cleaved within a cysteine-rich G-protein-coupled receptor proteolysis site into two chains that are non-covalently bound at the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygous null mice die prenatally at fetal stages. Heterozygous mice exhibit decreased locomotor activity in an open field test. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 105 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700056E22Rik |
C |
T |
1: 183,766,104 (GRCm39) |
|
probably benign |
Het |
| 4930562C15Rik |
T |
A |
16: 4,668,803 (GRCm39) |
N731K |
possibly damaging |
Het |
| Adgra1 |
A |
T |
7: 139,432,500 (GRCm39) |
K113* |
probably null |
Het |
| Adm |
G |
T |
7: 110,227,755 (GRCm39) |
R41L |
probably damaging |
Het |
| Aimp2 |
T |
C |
5: 143,843,419 (GRCm39) |
E97G |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,376,480 (GRCm39) |
|
probably benign |
Het |
| Arhgap20 |
G |
A |
9: 51,760,684 (GRCm39) |
R809H |
probably damaging |
Het |
| Arsa |
T |
C |
15: 89,358,207 (GRCm39) |
|
probably benign |
Het |
| Atg2a |
G |
T |
19: 6,294,547 (GRCm39) |
A88S |
probably damaging |
Het |
| Atm |
G |
A |
9: 53,442,922 (GRCm39) |
|
probably benign |
Het |
| Atp1a2 |
A |
T |
1: 172,118,842 (GRCm39) |
I100N |
possibly damaging |
Het |
| Camta2 |
G |
C |
11: 70,569,131 (GRCm39) |
L605V |
probably damaging |
Het |
| Cand2 |
G |
A |
6: 115,780,766 (GRCm39) |
E1217K |
probably damaging |
Het |
| Ccdc60 |
A |
G |
5: 116,274,440 (GRCm39) |
V388A |
possibly damaging |
Het |
| Cdk14 |
C |
T |
5: 5,185,422 (GRCm39) |
|
probably benign |
Het |
| Cdyl2 |
C |
T |
8: 117,350,774 (GRCm39) |
G119E |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,704,891 (GRCm39) |
N458S |
probably damaging |
Het |
| Chd3 |
A |
C |
11: 69,238,021 (GRCm39) |
H1808Q |
probably damaging |
Het |
| Cntnap2 |
T |
C |
6: 46,965,694 (GRCm39) |
V835A |
probably damaging |
Het |
| Col4a1 |
C |
A |
8: 11,249,889 (GRCm39) |
|
probably benign |
Het |
| Cpsf1 |
A |
G |
15: 76,486,171 (GRCm39) |
V357A |
probably damaging |
Het |
| Cryzl1 |
A |
G |
16: 91,504,107 (GRCm39) |
|
probably benign |
Het |
| Cts8 |
T |
C |
13: 61,401,256 (GRCm39) |
K90R |
possibly damaging |
Het |
| Cux1 |
A |
G |
5: 136,315,689 (GRCm39) |
V1117A |
probably damaging |
Het |
| Dbx1 |
T |
C |
7: 49,282,444 (GRCm39) |
T254A |
probably damaging |
Het |
| Dgki |
C |
A |
6: 36,977,133 (GRCm39) |
C659F |
probably damaging |
Het |
| Dnajc1 |
T |
G |
2: 18,236,612 (GRCm39) |
D332A |
probably damaging |
Het |
| Dock8 |
C |
A |
19: 25,038,524 (GRCm39) |
T70K |
probably benign |
Het |
| Dsc1 |
T |
A |
18: 20,218,919 (GRCm39) |
T828S |
probably damaging |
Het |
| Dst |
T |
G |
1: 34,232,531 (GRCm39) |
V3510G |
probably benign |
Het |
| Dst |
T |
C |
1: 34,238,554 (GRCm39) |
V1738A |
probably damaging |
Het |
| Ehmt2 |
A |
G |
17: 35,118,818 (GRCm39) |
T167A |
probably benign |
Het |
| Eri2 |
A |
T |
7: 119,385,640 (GRCm39) |
V287E |
probably benign |
Het |
| Fat4 |
T |
A |
3: 39,054,321 (GRCm39) |
L4121H |
probably damaging |
Het |
| Fbn1 |
T |
A |
2: 125,236,690 (GRCm39) |
D330V |
possibly damaging |
Het |
| Fign |
A |
G |
2: 63,810,485 (GRCm39) |
Y262H |
possibly damaging |
Het |
| Fnd3c2 |
C |
T |
X: 105,282,763 (GRCm39) |
M593I |
probably benign |
Het |
| Fndc7 |
T |
A |
3: 108,783,931 (GRCm39) |
E226V |
probably damaging |
Het |
| Gad2 |
A |
T |
2: 22,580,348 (GRCm39) |
Q583L |
probably benign |
Het |
| Gcn1 |
G |
A |
5: 115,719,148 (GRCm39) |
A334T |
probably benign |
Het |
| Ggt1 |
A |
G |
10: 75,421,336 (GRCm39) |
|
probably null |
Het |
| Gli2 |
C |
T |
1: 118,769,648 (GRCm39) |
G635R |
possibly damaging |
Het |
| Gm10253 |
T |
C |
3: 88,646,420 (GRCm39) |
E93G |
unknown |
Het |
| Gm10428 |
A |
G |
11: 62,644,256 (GRCm39) |
|
probably benign |
Het |
| Gm7104 |
T |
C |
12: 88,252,479 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8258 |
T |
G |
5: 104,924,385 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr107 |
A |
G |
2: 31,104,309 (GRCm39) |
N538S |
possibly damaging |
Het |
| Hars1 |
T |
C |
18: 36,904,442 (GRCm39) |
E190G |
probably damaging |
Het |
| Hoxc10 |
C |
T |
15: 102,875,917 (GRCm39) |
P209S |
probably benign |
Het |
| Ighg3 |
T |
C |
12: 113,323,714 (GRCm39) |
|
probably benign |
Het |
| Igsf10 |
C |
A |
3: 59,233,483 (GRCm39) |
W1750L |
probably damaging |
Het |
| Igsf5 |
C |
A |
16: 96,174,023 (GRCm39) |
|
probably benign |
Het |
| Itga10 |
T |
C |
3: 96,563,615 (GRCm39) |
|
probably benign |
Het |
| Ldhd |
T |
C |
8: 112,353,934 (GRCm39) |
K422R |
probably benign |
Het |
| Masp1 |
T |
C |
16: 23,271,169 (GRCm39) |
K693R |
probably benign |
Het |
| Mb21d2 |
G |
A |
16: 28,748,324 (GRCm39) |
A31V |
probably benign |
Het |
| Mbd1 |
T |
A |
18: 74,409,798 (GRCm39) |
|
probably benign |
Het |
| Mdm4 |
G |
A |
1: 132,919,491 (GRCm39) |
T459I |
possibly damaging |
Het |
| Megf10 |
A |
T |
18: 57,421,067 (GRCm39) |
I902F |
probably benign |
Het |
| Mta3 |
A |
G |
17: 84,022,056 (GRCm39) |
N37S |
probably damaging |
Het |
| Mterf3 |
T |
A |
13: 67,060,372 (GRCm39) |
Y372F |
probably damaging |
Het |
| Nbeal2 |
A |
G |
9: 110,465,102 (GRCm39) |
|
probably benign |
Het |
| Nbr1 |
T |
C |
11: 101,457,913 (GRCm39) |
|
probably benign |
Het |
| Ndst3 |
A |
G |
3: 123,355,720 (GRCm39) |
M103T |
probably damaging |
Het |
| Notch3 |
C |
A |
17: 32,366,446 (GRCm39) |
|
probably benign |
Het |
| Npr2 |
A |
T |
4: 43,641,219 (GRCm39) |
E415V |
probably benign |
Het |
| Or2n1c |
A |
G |
17: 38,519,304 (GRCm39) |
H56R |
probably damaging |
Het |
| Or4k40 |
T |
C |
2: 111,251,191 (GRCm39) |
Y35C |
probably damaging |
Het |
| Or52h9 |
G |
C |
7: 104,202,998 (GRCm39) |
V291L |
probably benign |
Het |
| Or5be3 |
A |
T |
2: 86,863,653 (GRCm39) |
M304K |
probably benign |
Het |
| Or8b50 |
T |
A |
9: 38,518,192 (GRCm39) |
F144I |
probably benign |
Het |
| Pappa2 |
T |
A |
1: 158,660,343 (GRCm39) |
D1246V |
probably benign |
Het |
| Pcdhgc5 |
A |
T |
18: 37,954,931 (GRCm39) |
D735V |
probably benign |
Het |
| Pik3ca |
A |
G |
3: 32,504,176 (GRCm39) |
Y622C |
possibly damaging |
Het |
| Plppr2 |
A |
G |
9: 21,859,197 (GRCm39) |
D438G |
probably benign |
Het |
| Ppfibp2 |
A |
T |
7: 107,337,806 (GRCm39) |
|
probably null |
Het |
| Prdm15 |
A |
T |
16: 97,638,907 (GRCm39) |
L77Q |
probably null |
Het |
| Prdm8 |
T |
C |
5: 98,332,380 (GRCm39) |
S94P |
probably damaging |
Het |
| Prkdc |
A |
T |
16: 15,628,665 (GRCm39) |
Q3470L |
probably damaging |
Het |
| Prl3c1 |
T |
C |
13: 27,384,674 (GRCm39) |
|
probably benign |
Het |
| Ptchd4 |
A |
T |
17: 42,688,076 (GRCm39) |
H206L |
probably benign |
Het |
| Rack1 |
G |
A |
11: 48,694,804 (GRCm39) |
|
probably benign |
Het |
| Rere |
T |
C |
4: 150,703,545 (GRCm39) |
L1509P |
probably damaging |
Het |
| Rgma |
T |
A |
7: 73,067,366 (GRCm39) |
L301Q |
probably damaging |
Het |
| Rgs6 |
T |
A |
12: 83,094,324 (GRCm39) |
|
probably benign |
Het |
| Rictor |
C |
A |
15: 6,823,973 (GRCm39) |
R1613S |
probably damaging |
Het |
| Ripk1 |
T |
G |
13: 34,211,764 (GRCm39) |
F358C |
probably damaging |
Het |
| Robo2 |
T |
C |
16: 73,713,093 (GRCm39) |
D1217G |
probably benign |
Het |
| Shc2 |
A |
T |
10: 79,461,975 (GRCm39) |
W357R |
probably null |
Het |
| Slc25a45 |
T |
C |
19: 5,930,556 (GRCm39) |
L81P |
probably damaging |
Het |
| Slc9c1 |
A |
T |
16: 45,363,483 (GRCm39) |
|
probably benign |
Het |
| Spats2 |
T |
C |
15: 99,083,909 (GRCm39) |
|
probably null |
Het |
| Stac3 |
A |
T |
10: 127,343,632 (GRCm39) |
E258V |
probably damaging |
Het |
| Thada |
A |
G |
17: 84,536,603 (GRCm39) |
S1648P |
probably damaging |
Het |
| Tmem168 |
T |
C |
6: 13,583,064 (GRCm39) |
T222A |
probably benign |
Het |
| Tmtc4 |
T |
C |
14: 123,163,502 (GRCm39) |
|
probably benign |
Het |
| Trappc14 |
A |
G |
5: 138,260,551 (GRCm39) |
S292P |
probably damaging |
Het |
| Trim38 |
T |
G |
13: 23,975,115 (GRCm39) |
Y351* |
probably null |
Het |
| Trip12 |
T |
C |
1: 84,771,636 (GRCm39) |
R213G |
possibly damaging |
Het |
| Vav3 |
C |
T |
3: 109,331,328 (GRCm39) |
R76W |
probably damaging |
Het |
| Vmn1r63 |
G |
T |
7: 5,806,263 (GRCm39) |
P123H |
probably damaging |
Het |
| Wdr5 |
A |
G |
2: 27,410,619 (GRCm39) |
N130S |
probably benign |
Het |
| Wnk4 |
C |
A |
11: 101,156,212 (GRCm39) |
R27S |
probably damaging |
Het |
| Ykt6 |
G |
A |
11: 5,909,323 (GRCm39) |
S44N |
probably benign |
Het |
| Ythdc1 |
T |
A |
5: 86,957,207 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Adgrl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00426:Adgrl2
|
APN |
3 |
148,571,244 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00572:Adgrl2
|
APN |
3 |
148,532,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01624:Adgrl2
|
APN |
3 |
148,542,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01796:Adgrl2
|
APN |
3 |
148,564,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02380:Adgrl2
|
APN |
3 |
148,534,125 (GRCm39) |
nonsense |
probably null |
|
|
IGL02468:Adgrl2
|
APN |
3 |
148,596,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02708:Adgrl2
|
APN |
3 |
148,532,161 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02869:Adgrl2
|
APN |
3 |
148,596,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03248:Adgrl2
|
APN |
3 |
148,523,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03343:Adgrl2
|
APN |
3 |
148,565,016 (GRCm39) |
missense |
probably damaging |
0.98 |
|
P0157:Adgrl2
|
UTSW |
3 |
148,564,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4382001:Adgrl2
|
UTSW |
3 |
148,522,934 (GRCm39) |
missense |
|
|
|
PIT4544001:Adgrl2
|
UTSW |
3 |
148,596,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0165:Adgrl2
|
UTSW |
3 |
148,558,499 (GRCm39) |
splice site |
probably benign |
|
|
R0242:Adgrl2
|
UTSW |
3 |
148,544,821 (GRCm39) |
splice site |
probably null |
|
|
R0242:Adgrl2
|
UTSW |
3 |
148,544,821 (GRCm39) |
splice site |
probably null |
|
|
R0344:Adgrl2
|
UTSW |
3 |
148,571,231 (GRCm39) |
splice site |
probably null |
|
|
R0488:Adgrl2
|
UTSW |
3 |
148,552,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0542:Adgrl2
|
UTSW |
3 |
148,564,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0674:Adgrl2
|
UTSW |
3 |
148,543,315 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1401:Adgrl2
|
UTSW |
3 |
148,528,617 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1543:Adgrl2
|
UTSW |
3 |
148,564,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1575:Adgrl2
|
UTSW |
3 |
148,558,398 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1645:Adgrl2
|
UTSW |
3 |
148,571,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1780:Adgrl2
|
UTSW |
3 |
148,558,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1992:Adgrl2
|
UTSW |
3 |
148,522,880 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2014:Adgrl2
|
UTSW |
3 |
148,532,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2130:Adgrl2
|
UTSW |
3 |
148,596,124 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2131:Adgrl2
|
UTSW |
3 |
148,596,124 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2400:Adgrl2
|
UTSW |
3 |
148,557,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2997:Adgrl2
|
UTSW |
3 |
148,523,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3161:Adgrl2
|
UTSW |
3 |
148,523,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3416:Adgrl2
|
UTSW |
3 |
148,564,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3417:Adgrl2
|
UTSW |
3 |
148,564,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3551:Adgrl2
|
UTSW |
3 |
148,564,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3760:Adgrl2
|
UTSW |
3 |
148,522,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4355:Adgrl2
|
UTSW |
3 |
148,544,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4850:Adgrl2
|
UTSW |
3 |
148,564,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4911:Adgrl2
|
UTSW |
3 |
148,596,099 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4945:Adgrl2
|
UTSW |
3 |
148,528,672 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5313:Adgrl2
|
UTSW |
3 |
148,529,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5339:Adgrl2
|
UTSW |
3 |
148,523,480 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5540:Adgrl2
|
UTSW |
3 |
148,543,198 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5583:Adgrl2
|
UTSW |
3 |
148,564,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5890:Adgrl2
|
UTSW |
3 |
148,564,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6170:Adgrl2
|
UTSW |
3 |
148,528,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6197:Adgrl2
|
UTSW |
3 |
148,564,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6284:Adgrl2
|
UTSW |
3 |
148,532,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6877:Adgrl2
|
UTSW |
3 |
148,522,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7048:Adgrl2
|
UTSW |
3 |
148,552,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7205:Adgrl2
|
UTSW |
3 |
148,564,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7326:Adgrl2
|
UTSW |
3 |
148,552,506 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7348:Adgrl2
|
UTSW |
3 |
148,523,402 (GRCm39) |
missense |
|
|
|
R7382:Adgrl2
|
UTSW |
3 |
148,522,919 (GRCm39) |
missense |
|
|
|
R7486:Adgrl2
|
UTSW |
3 |
148,523,330 (GRCm39) |
missense |
|
|
|
R7498:Adgrl2
|
UTSW |
3 |
148,564,852 (GRCm39) |
nonsense |
probably null |
|
|
R7644:Adgrl2
|
UTSW |
3 |
148,544,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7690:Adgrl2
|
UTSW |
3 |
148,522,934 (GRCm39) |
missense |
|
|
|
R7742:Adgrl2
|
UTSW |
3 |
148,542,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7745:Adgrl2
|
UTSW |
3 |
148,542,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8291:Adgrl2
|
UTSW |
3 |
148,556,554 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8326:Adgrl2
|
UTSW |
3 |
148,533,190 (GRCm39) |
missense |
|
|
|
R8343:Adgrl2
|
UTSW |
3 |
148,552,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8344:Adgrl2
|
UTSW |
3 |
148,565,161 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8487:Adgrl2
|
UTSW |
3 |
148,565,122 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8748:Adgrl2
|
UTSW |
3 |
148,532,026 (GRCm39) |
missense |
|
|
|
R8769:Adgrl2
|
UTSW |
3 |
148,522,917 (GRCm39) |
missense |
|
|
|
R8804:Adgrl2
|
UTSW |
3 |
148,552,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8911:Adgrl2
|
UTSW |
3 |
148,558,163 (GRCm39) |
intron |
probably benign |
|
|
R8943:Adgrl2
|
UTSW |
3 |
148,534,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8977:Adgrl2
|
UTSW |
3 |
148,660,223 (GRCm39) |
missense |
probably null |
|
|
R9030:Adgrl2
|
UTSW |
3 |
148,544,761 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9105:Adgrl2
|
UTSW |
3 |
148,543,289 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9427:Adgrl2
|
UTSW |
3 |
148,526,068 (GRCm39) |
missense |
|
|
|
R9471:Adgrl2
|
UTSW |
3 |
148,558,365 (GRCm39) |
missense |
probably benign |
|
|
R9646:Adgrl2
|
UTSW |
3 |
148,544,926 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9742:Adgrl2
|
UTSW |
3 |
148,541,986 (GRCm39) |
critical splice donor site |
probably null |
|
|
RF007:Adgrl2
|
UTSW |
3 |
148,544,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0009:Adgrl2
|
UTSW |
3 |
148,558,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0019:Adgrl2
|
UTSW |
3 |
148,571,230 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAACTTGTGTCTCTGACCCAGCCC -3'
(R):5'- AATGGTGAGACCACACTGCCTTG -3'
Sequencing Primer
(F):5'- CTGGGGTTTAAAACCTTCTGTGAC -3'
(R):5'- TAACACAATGGAAATGGCTTAGC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation