Incidental Mutation 'IGL02696:Adgrd1'
ID |
303957 |
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 # |
IGL02696
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
129173814-129281663 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 129217918 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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr8 |
A |
G |
14: 29,704,628 (GRCm39) |
T43A |
probably benign |
Het |
Asxl1 |
T |
A |
2: 153,242,115 (GRCm39) |
Y888* |
probably null |
Het |
Atp8b5 |
T |
C |
4: 43,369,634 (GRCm39) |
V924A |
possibly damaging |
Het |
AU040320 |
T |
C |
4: 126,736,380 (GRCm39) |
L821P |
probably damaging |
Het |
Capn11 |
T |
C |
17: 45,943,635 (GRCm39) |
N596S |
probably damaging |
Het |
Cnot1 |
C |
A |
8: 96,471,645 (GRCm39) |
V1219F |
probably benign |
Het |
Cope |
T |
C |
8: 70,763,143 (GRCm39) |
|
probably null |
Het |
Crim1 |
A |
G |
17: 78,587,402 (GRCm39) |
E169G |
probably damaging |
Het |
Csmd3 |
A |
T |
15: 47,533,065 (GRCm39) |
F2395I |
probably benign |
Het |
Ctso |
A |
C |
3: 81,858,691 (GRCm39) |
D220A |
possibly damaging |
Het |
Cttnbp2 |
G |
A |
6: 18,434,128 (GRCm39) |
P577S |
probably benign |
Het |
D930048N14Rik |
T |
A |
11: 51,544,821 (GRCm39) |
|
probably benign |
Het |
Dck |
T |
A |
5: 88,920,666 (GRCm39) |
S129T |
probably damaging |
Het |
Dlc1 |
A |
G |
8: 37,041,326 (GRCm39) |
V1301A |
possibly damaging |
Het |
Dusp16 |
G |
A |
6: 134,695,398 (GRCm39) |
R478C |
probably damaging |
Het |
Ermap |
C |
T |
4: 119,044,904 (GRCm39) |
R49K |
possibly damaging |
Het |
Flnc |
A |
G |
6: 29,446,697 (GRCm39) |
K969R |
probably damaging |
Het |
Gjb2 |
A |
T |
14: 57,337,769 (GRCm39) |
F146L |
probably damaging |
Het |
Hdc |
A |
T |
2: 126,436,220 (GRCm39) |
D550E |
probably damaging |
Het |
Hs6st3 |
A |
T |
14: 120,106,731 (GRCm39) |
I380F |
probably damaging |
Het |
Htr1d |
T |
C |
4: 136,170,722 (GRCm39) |
V317A |
probably benign |
Het |
Kalrn |
A |
T |
16: 34,040,484 (GRCm39) |
M963K |
probably damaging |
Het |
Kl |
T |
A |
5: 150,904,450 (GRCm39) |
S401T |
probably benign |
Het |
Lair1 |
A |
G |
7: 4,013,848 (GRCm39) |
|
probably benign |
Het |
Lrp5 |
C |
T |
19: 3,652,253 (GRCm39) |
V1206I |
probably benign |
Het |
Matn4 |
A |
G |
2: 164,238,758 (GRCm39) |
F343S |
probably benign |
Het |
Mrgpra4 |
G |
T |
7: 47,631,251 (GRCm39) |
R117S |
possibly damaging |
Het |
Myh14 |
T |
C |
7: 44,314,530 (GRCm39) |
Y131C |
probably damaging |
Het |
Nap1l4 |
A |
T |
7: 143,077,898 (GRCm39) |
N345K |
possibly damaging |
Het |
Oas1c |
T |
C |
5: 120,943,528 (GRCm39) |
R204G |
probably benign |
Het |
Or52e4 |
A |
G |
7: 104,705,569 (GRCm39) |
T39A |
probably benign |
Het |
Or8k25 |
T |
A |
2: 86,243,959 (GRCm39) |
T146S |
probably benign |
Het |
Pakap |
T |
A |
4: 57,854,663 (GRCm39) |
D58E |
probably damaging |
Het |
Pin1 |
G |
A |
9: 20,574,531 (GRCm39) |
G150E |
probably benign |
Het |
R3hdm2 |
T |
C |
10: 127,300,888 (GRCm39) |
|
probably null |
Het |
Rai1 |
C |
A |
11: 60,084,782 (GRCm39) |
H1843Q |
probably benign |
Het |
Siae |
G |
T |
9: 37,542,680 (GRCm39) |
A194S |
probably damaging |
Het |
Slc6a12 |
G |
T |
6: 121,340,211 (GRCm39) |
V485L |
probably benign |
Het |
Stil |
T |
G |
4: 114,898,692 (GRCm39) |
S1107R |
probably damaging |
Het |
Syt16 |
T |
C |
12: 74,176,185 (GRCm39) |
V18A |
possibly damaging |
Het |
Trpm8 |
A |
G |
1: 88,275,773 (GRCm39) |
D457G |
probably damaging |
Het |
Tshr |
A |
T |
12: 91,460,103 (GRCm39) |
T66S |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,537,639 (GRCm39) |
Q34763L |
probably benign |
Het |
Ubr2 |
T |
A |
17: 47,274,691 (GRCm39) |
M830L |
probably benign |
Het |
Ulk1 |
A |
G |
5: 110,940,918 (GRCm39) |
F337S |
probably 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 |
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 |
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 |
2015-04-16 |