Incidental Mutation 'IGL02976:Adgrd1'
| ID |
406385 |
| 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 # |
IGL02976
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
129173814-129281663 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 129208661 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 288
(S288T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056617]
[ENSMUST00000156437]
|
| AlphaFold |
Q80T32 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056617
AA Change: S288T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000060307
Gene: ENSMUSG00000044017
AA Change: S288T
| 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 |
noncoding transcript
Transcript: ENSMUST00000140155
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156437
AA Change: S256T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000121217
Gene: ENSMUSG00000044017
AA Change: S256T
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9630041A04Rik |
A |
G |
9: 101,816,845 (GRCm39) |
T84A |
possibly damaging |
Het |
| Ano7 |
T |
A |
1: 93,330,395 (GRCm39) |
D806E |
possibly damaging |
Het |
| Arl6 |
A |
G |
16: 59,444,259 (GRCm39) |
L79P |
probably damaging |
Het |
| Card6 |
A |
T |
15: 5,129,310 (GRCm39) |
C695* |
probably null |
Het |
| Carmil1 |
T |
C |
13: 24,276,534 (GRCm39) |
N610S |
possibly damaging |
Het |
| Cdc40 |
A |
G |
10: 40,758,917 (GRCm39) |
V52A |
probably benign |
Het |
| Chd4 |
G |
A |
6: 125,098,331 (GRCm39) |
R369H |
probably damaging |
Het |
| Clasp2 |
C |
T |
9: 113,735,204 (GRCm39) |
P1031L |
probably damaging |
Het |
| Cldn34d |
C |
T |
X: 75,626,690 (GRCm39) |
A121T |
probably benign |
Het |
| Clmp |
A |
C |
9: 40,692,520 (GRCm39) |
Y263S |
possibly damaging |
Het |
| Cntn5 |
A |
G |
9: 10,419,104 (GRCm39) |
|
probably benign |
Het |
| Folh1 |
A |
T |
7: 86,412,126 (GRCm39) |
M215K |
probably benign |
Het |
| Fut1 |
C |
T |
7: 45,268,744 (GRCm39) |
R233C |
probably damaging |
Het |
| Gcdh |
A |
C |
8: 85,615,207 (GRCm39) |
Y398D |
probably damaging |
Het |
| Gm26741 |
T |
G |
10: 52,234,910 (GRCm39) |
S16R |
possibly damaging |
Het |
| Jph3 |
T |
A |
8: 122,479,823 (GRCm39) |
L167Q |
probably damaging |
Het |
| Jup |
A |
G |
11: 100,269,192 (GRCm39) |
V407A |
probably benign |
Het |
| Kif17 |
C |
T |
4: 137,996,374 (GRCm39) |
A117V |
probably damaging |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Magi2 |
C |
T |
5: 20,739,473 (GRCm39) |
P349S |
probably damaging |
Het |
| Mlycd |
T |
C |
8: 120,128,224 (GRCm39) |
M177T |
possibly damaging |
Het |
| Mocos |
A |
G |
18: 24,799,626 (GRCm39) |
K287E |
possibly damaging |
Het |
| Morc2b |
T |
A |
17: 33,356,497 (GRCm39) |
H425L |
possibly damaging |
Het |
| Mrpl9 |
T |
A |
3: 94,355,084 (GRCm39) |
|
probably benign |
Het |
| Myo3a |
G |
A |
2: 22,434,494 (GRCm39) |
W825* |
probably null |
Het |
| Npas2 |
T |
C |
1: 39,326,565 (GRCm39) |
S17P |
probably damaging |
Het |
| Nrk |
A |
G |
X: 137,892,817 (GRCm39) |
I1174V |
probably benign |
Het |
| Or1e32 |
A |
G |
11: 73,705,143 (GRCm39) |
I255T |
probably damaging |
Het |
| Or4d11 |
A |
T |
19: 12,013,337 (GRCm39) |
Y256* |
probably null |
Het |
| Or4k2 |
G |
A |
14: 50,423,889 (GRCm39) |
Q262* |
probably null |
Het |
| Parpbp |
A |
G |
10: 87,947,456 (GRCm39) |
|
probably null |
Het |
| Pcdh10 |
T |
C |
3: 45,334,448 (GRCm39) |
V254A |
possibly damaging |
Het |
| Plod1 |
C |
T |
4: 147,997,778 (GRCm39) |
V644I |
probably damaging |
Het |
| Ptpn1 |
T |
C |
2: 167,813,704 (GRCm39) |
V149A |
probably benign |
Het |
| Rassf4 |
T |
C |
6: 116,615,209 (GRCm39) |
E320G |
probably damaging |
Het |
| Rgl2 |
T |
A |
17: 34,152,936 (GRCm39) |
D448E |
possibly damaging |
Het |
| Rnf32 |
C |
T |
5: 29,411,710 (GRCm39) |
|
probably null |
Het |
| Rpa1 |
T |
A |
11: 75,203,628 (GRCm39) |
D358V |
probably damaging |
Het |
| Sdk2 |
T |
C |
11: 113,742,668 (GRCm39) |
N747S |
probably damaging |
Het |
| Slc17a4 |
A |
C |
13: 24,089,407 (GRCm39) |
M170R |
probably damaging |
Het |
| Slc5a4a |
G |
A |
10: 76,006,527 (GRCm39) |
V310M |
possibly damaging |
Het |
| Spag9 |
G |
A |
11: 93,974,779 (GRCm39) |
R463H |
probably benign |
Het |
| Spmip5 |
A |
T |
19: 58,777,552 (GRCm39) |
V78E |
probably benign |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Syt10 |
A |
G |
15: 89,698,682 (GRCm39) |
S221P |
probably benign |
Het |
| Tlk1 |
T |
A |
2: 70,551,935 (GRCm39) |
K579* |
probably null |
Het |
| Tubgcp3 |
T |
C |
8: 12,682,300 (GRCm39) |
Y673C |
probably damaging |
Het |
| Vmn1r223 |
T |
C |
13: 23,434,165 (GRCm39) |
F253S |
probably damaging |
Het |
| Vmn2r83 |
T |
C |
10: 79,304,832 (GRCm39) |
M14T |
probably benign |
Het |
| Zfp59 |
A |
G |
7: 27,552,821 (GRCm39) |
D91G |
probably benign |
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 |
|
IGL01636:Adgrd1
|
APN |
5 |
129,219,516 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation