Incidental Mutation 'IGL01636:Adgrd1'
| ID |
93020 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adgrd1
|
| Ensembl Gene |
ENSMUSG00000044017 |
| Gene Name |
adhesion G protein-coupled receptor D1 |
| Synonyms |
Gpr133, E230012M21Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01636
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
129173814-129281663 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 129219516 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121217
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056617]
[ENSMUST00000156437]
|
| AlphaFold |
Q80T32 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056617
|
| SMART Domains |
Protein: ENSMUSP00000060307
Gene: ENSMUSG00000044017
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:Laminin_G_3
|
119 |
273 |
2.9e-18 |
PFAM |
|
Pfam:Pentaxin
|
171 |
288 |
2.2e-7 |
PFAM |
|
GPS
|
535 |
585 |
1.57e-14 |
SMART |
|
Pfam:Dicty_CAR
|
590 |
856 |
1.2e-8 |
PFAM |
|
Pfam:7tm_2
|
592 |
831 |
8e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156437
|
| SMART Domains |
Protein: ENSMUSP00000121217
Gene: ENSMUSG00000044017
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The adhesion G-protein-coupled receptors (GPCRs), including GPR133, are membrane-bound proteins with long N termini containing multiple domains. GPCRs, or GPRs, contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins (summary by Bjarnadottir et al., 2004 [PubMed 15203201]).[supplied by OMIM, Nov 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
T |
C |
12: 81,466,723 (GRCm39) |
T633A |
possibly damaging |
Het |
| Bmp7 |
T |
C |
2: 172,717,001 (GRCm39) |
|
probably benign |
Het |
| Ccdc54 |
A |
G |
16: 50,410,277 (GRCm39) |
*330Q |
probably null |
Het |
| Chd5 |
A |
T |
4: 152,469,110 (GRCm39) |
K1812* |
probably null |
Het |
| Cnga3 |
T |
A |
1: 37,299,874 (GRCm39) |
I236N |
possibly damaging |
Het |
| Ddost |
T |
G |
4: 138,036,707 (GRCm39) |
D135E |
possibly damaging |
Het |
| Dicer1 |
T |
C |
12: 104,688,500 (GRCm39) |
D359G |
probably damaging |
Het |
| Dnah17 |
A |
C |
11: 117,931,882 (GRCm39) |
S3697A |
probably benign |
Het |
| Dnttip2 |
G |
A |
3: 122,076,123 (GRCm39) |
G685D |
possibly damaging |
Het |
| Dst |
T |
G |
1: 34,254,650 (GRCm39) |
S4552R |
probably damaging |
Het |
| Ebf2 |
G |
A |
14: 67,476,927 (GRCm39) |
E157K |
probably damaging |
Het |
| Ehbp1 |
C |
T |
11: 22,039,584 (GRCm39) |
V839M |
probably benign |
Het |
| Ehmt1 |
G |
T |
2: 24,729,620 (GRCm39) |
T639K |
probably damaging |
Het |
| Esyt2 |
T |
C |
12: 116,329,550 (GRCm39) |
|
probably null |
Het |
| Etv6 |
T |
C |
6: 134,225,350 (GRCm39) |
S194P |
probably benign |
Het |
| Fam184b |
T |
C |
5: 45,741,637 (GRCm39) |
H198R |
probably benign |
Het |
| Fam210b |
T |
C |
2: 172,193,460 (GRCm39) |
F91S |
probably damaging |
Het |
| Fam81a |
G |
A |
9: 70,006,434 (GRCm39) |
Q193* |
probably null |
Het |
| Fto |
A |
G |
8: 92,135,969 (GRCm39) |
D79G |
probably damaging |
Het |
| Haspin |
C |
T |
11: 73,028,231 (GRCm39) |
R286H |
possibly damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,455,984 (GRCm39) |
C5312Y |
probably damaging |
Het |
| Ik |
T |
A |
18: 36,884,254 (GRCm39) |
D245E |
possibly damaging |
Het |
| Itga1 |
A |
G |
13: 115,143,484 (GRCm39) |
V349A |
possibly damaging |
Het |
| Kdm8 |
T |
C |
7: 125,060,377 (GRCm39) |
V400A |
probably damaging |
Het |
| Larp1b |
G |
T |
3: 40,924,913 (GRCm39) |
R177L |
probably benign |
Het |
| Lifr |
T |
G |
15: 7,208,499 (GRCm39) |
|
probably benign |
Het |
| Lrrn2 |
T |
C |
1: 132,864,959 (GRCm39) |
L8P |
possibly damaging |
Het |
| Marcksl1 |
T |
A |
4: 129,408,587 (GRCm39) |
D55E |
probably benign |
Het |
| Med12 |
C |
A |
X: 100,318,795 (GRCm39) |
S74R |
probably damaging |
Het |
| Mtarc2 |
T |
C |
1: 184,564,838 (GRCm39) |
K231E |
probably benign |
Het |
| Or52s1 |
C |
A |
7: 102,861,384 (GRCm39) |
R95S |
probably benign |
Het |
| Or6c35 |
A |
T |
10: 129,168,752 (GRCm39) |
M1L |
probably damaging |
Het |
| Or7e170 |
A |
G |
9: 19,795,484 (GRCm39) |
V39A |
probably benign |
Het |
| Or8k39 |
G |
A |
2: 86,563,945 (GRCm39) |
Q4* |
probably null |
Het |
| Orc3 |
A |
C |
4: 34,595,096 (GRCm39) |
L233R |
probably damaging |
Het |
| Pik3cd |
A |
G |
4: 149,738,772 (GRCm39) |
M715T |
possibly damaging |
Het |
| Prss43 |
T |
A |
9: 110,656,505 (GRCm39) |
L64Q |
possibly damaging |
Het |
| Pyroxd2 |
C |
A |
19: 42,726,771 (GRCm39) |
G209V |
probably benign |
Het |
| Rab3b |
A |
G |
4: 108,797,916 (GRCm39) |
D198G |
possibly damaging |
Het |
| Rrbp1 |
A |
T |
2: 143,789,815 (GRCm39) |
|
probably benign |
Het |
| Smg6 |
T |
C |
11: 74,825,929 (GRCm39) |
|
probably null |
Het |
| Ssrp1 |
T |
C |
2: 84,871,443 (GRCm39) |
|
probably benign |
Het |
| Strip2 |
C |
A |
6: 29,931,192 (GRCm39) |
T381K |
probably benign |
Het |
| Svep1 |
A |
T |
4: 58,116,622 (GRCm39) |
L876Q |
possibly damaging |
Het |
| Tle4 |
T |
C |
19: 14,429,897 (GRCm39) |
I625V |
probably damaging |
Het |
| Tnfrsf23 |
T |
C |
7: 143,233,736 (GRCm39) |
T81A |
probably damaging |
Het |
| Ttc41 |
A |
G |
10: 86,612,542 (GRCm39) |
K1272E |
probably benign |
Het |
| Usp3 |
A |
G |
9: 66,469,834 (GRCm39) |
|
probably null |
Het |
| Vmn1r121 |
C |
T |
7: 20,832,282 (GRCm39) |
V53M |
probably benign |
Het |
| Vmn1r65 |
A |
T |
7: 6,011,720 (GRCm39) |
S171R |
probably benign |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,657 (GRCm39) |
D441E |
probably benign |
Het |
| Vps13d |
A |
T |
4: 144,801,618 (GRCm39) |
H2353Q |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,435,794 (GRCm39) |
S1835P |
possibly damaging |
Het |
|
| Other mutations in Adgrd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01084:Adgrd1
|
APN |
5 |
129,216,656 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01384:Adgrd1
|
APN |
5 |
129,174,273 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL01916:Adgrd1
|
APN |
5 |
129,209,902 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01923:Adgrd1
|
APN |
5 |
129,255,143 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL02019:Adgrd1
|
APN |
5 |
129,192,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02142:Adgrd1
|
APN |
5 |
129,208,648 (GRCm39) |
missense |
probably benign |
|
|
IGL02149:Adgrd1
|
APN |
5 |
129,256,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02190:Adgrd1
|
APN |
5 |
129,217,788 (GRCm39) |
splice site |
probably benign |
|
|
IGL02623:Adgrd1
|
APN |
5 |
129,209,809 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02696:Adgrd1
|
APN |
5 |
129,217,918 (GRCm39) |
splice site |
probably benign |
|
|
IGL02850:Adgrd1
|
APN |
5 |
129,192,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02976:Adgrd1
|
APN |
5 |
129,208,661 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02988:Adgrd1
|
UTSW |
5 |
129,221,074 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4458001:Adgrd1
|
UTSW |
5 |
129,208,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0081:Adgrd1
|
UTSW |
5 |
129,255,146 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0266:Adgrd1
|
UTSW |
5 |
129,216,658 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0267:Adgrd1
|
UTSW |
5 |
129,216,658 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0464:Adgrd1
|
UTSW |
5 |
129,239,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0625:Adgrd1
|
UTSW |
5 |
129,248,995 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1288:Adgrd1
|
UTSW |
5 |
129,206,071 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1460:Adgrd1
|
UTSW |
5 |
129,199,627 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1635:Adgrd1
|
UTSW |
5 |
129,205,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1658:Adgrd1
|
UTSW |
5 |
129,255,164 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1709:Adgrd1
|
UTSW |
5 |
129,256,292 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1897:Adgrd1
|
UTSW |
5 |
129,206,065 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1976:Adgrd1
|
UTSW |
5 |
129,217,861 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2049:Adgrd1
|
UTSW |
5 |
129,192,159 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2259:Adgrd1
|
UTSW |
5 |
129,189,375 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2295:Adgrd1
|
UTSW |
5 |
129,199,570 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3076:Adgrd1
|
UTSW |
5 |
129,206,169 (GRCm39) |
missense |
probably benign |
0.20 |
|
R3077:Adgrd1
|
UTSW |
5 |
129,206,169 (GRCm39) |
missense |
probably benign |
0.20 |
|
R3078:Adgrd1
|
UTSW |
5 |
129,206,169 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4581:Adgrd1
|
UTSW |
5 |
129,279,595 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5024:Adgrd1
|
UTSW |
5 |
129,248,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5076:Adgrd1
|
UTSW |
5 |
129,221,053 (GRCm39) |
nonsense |
probably null |
|
|
R5227:Adgrd1
|
UTSW |
5 |
129,199,647 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5453:Adgrd1
|
UTSW |
5 |
129,256,647 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6349:Adgrd1
|
UTSW |
5 |
129,219,603 (GRCm39) |
splice site |
probably null |
|
|
R6953:Adgrd1
|
UTSW |
5 |
129,192,142 (GRCm39) |
nonsense |
probably null |
|
|
R7300:Adgrd1
|
UTSW |
5 |
129,174,411 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7583:Adgrd1
|
UTSW |
5 |
129,256,652 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7622:Adgrd1
|
UTSW |
5 |
129,216,688 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8205:Adgrd1
|
UTSW |
5 |
129,192,175 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8716:Adgrd1
|
UTSW |
5 |
129,265,435 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8780:Adgrd1
|
UTSW |
5 |
129,174,138 (GRCm39) |
start gained |
probably benign |
|
|
R8850:Adgrd1
|
UTSW |
5 |
129,219,574 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9528:Adgrd1
|
UTSW |
5 |
129,256,740 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9569:Adgrd1
|
UTSW |
5 |
129,256,701 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9626:Adgrd1
|
UTSW |
5 |
129,275,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0067:Adgrd1
|
UTSW |
5 |
129,265,416 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Posted On |
2013-12-09 |
Incidental Mutation