Incidental Mutation 'IGL01384:Adgrd1'
ID |
78965 |
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 # |
IGL01384
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
129173814-129281663 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 129174273 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 17
(S17P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121217
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056617]
[ENSMUST00000156437]
|
AlphaFold |
Q80T32 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056617
AA Change: S17P
PolyPhen 2
Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000060307 Gene: ENSMUSG00000044017 AA Change: S17P
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: ENSMUST00000155590
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000156437
AA Change: S17P
PolyPhen 2
Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000121217 Gene: ENSMUSG00000044017 AA Change: S17P
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
A |
G |
2: 68,575,749 (GRCm39) |
R683G |
possibly damaging |
Het |
Abca9 |
A |
G |
11: 110,036,463 (GRCm39) |
S549P |
probably damaging |
Het |
Ankrd36 |
C |
A |
11: 5,578,348 (GRCm39) |
H546N |
probably benign |
Het |
Aopep |
C |
T |
13: 63,338,290 (GRCm39) |
|
probably benign |
Het |
Bivm |
T |
G |
1: 44,165,907 (GRCm39) |
I119S |
possibly damaging |
Het |
Ccdc88a |
G |
T |
11: 29,453,915 (GRCm39) |
D1693Y |
probably damaging |
Het |
Clcn6 |
G |
A |
4: 148,103,423 (GRCm39) |
R242C |
probably damaging |
Het |
Clec4a2 |
A |
C |
6: 123,104,947 (GRCm39) |
K79T |
probably damaging |
Het |
Cspp1 |
G |
A |
1: 10,186,905 (GRCm39) |
R129H |
probably damaging |
Het |
Cyp2c40 |
A |
T |
19: 39,801,027 (GRCm39) |
M47K |
probably benign |
Het |
Dmxl1 |
A |
G |
18: 49,990,401 (GRCm39) |
D280G |
probably benign |
Het |
Fbxo38 |
A |
G |
18: 62,655,487 (GRCm39) |
S400P |
probably damaging |
Het |
Fsd1 |
C |
T |
17: 56,303,733 (GRCm39) |
S491F |
probably damaging |
Het |
Gen1 |
T |
C |
12: 11,305,242 (GRCm39) |
I184M |
probably benign |
Het |
Gm9949 |
A |
T |
18: 62,317,089 (GRCm39) |
|
probably benign |
Het |
Grtp1 |
A |
T |
8: 13,229,629 (GRCm39) |
V253E |
probably damaging |
Het |
Irag1 |
A |
G |
7: 110,525,708 (GRCm39) |
V148A |
possibly damaging |
Het |
Lamb1 |
T |
A |
12: 31,370,930 (GRCm39) |
M1327K |
probably benign |
Het |
Lrp2 |
T |
A |
2: 69,313,846 (GRCm39) |
D2295V |
probably damaging |
Het |
Lrp2 |
T |
C |
2: 69,284,156 (GRCm39) |
D3874G |
probably null |
Het |
Muc5b |
A |
T |
7: 141,400,555 (GRCm39) |
I509F |
unknown |
Het |
Mug1 |
A |
C |
6: 121,826,433 (GRCm39) |
|
probably benign |
Het |
Myh7 |
A |
T |
14: 55,208,916 (GRCm39) |
L1903Q |
probably damaging |
Het |
Mylk |
G |
T |
16: 34,759,322 (GRCm39) |
A1229S |
probably benign |
Het |
Myorg |
G |
T |
4: 41,498,151 (GRCm39) |
A493E |
probably damaging |
Het |
Ncam1 |
A |
T |
9: 49,421,152 (GRCm39) |
I721N |
possibly damaging |
Het |
Or8b101 |
T |
A |
9: 38,020,858 (GRCm39) |
I287N |
probably damaging |
Het |
Pla2g2c |
A |
G |
4: 138,471,012 (GRCm39) |
K131R |
probably benign |
Het |
Rpgrip1l |
A |
T |
8: 92,000,268 (GRCm39) |
I557N |
probably benign |
Het |
Sirpb1b |
T |
A |
3: 15,613,789 (GRCm39) |
N98Y |
probably damaging |
Het |
Stab1 |
A |
G |
14: 30,872,365 (GRCm39) |
V1182A |
probably benign |
Het |
Tagap1 |
T |
C |
17: 7,224,282 (GRCm39) |
D138G |
probably benign |
Het |
Tiam2 |
T |
A |
17: 3,477,477 (GRCm39) |
F567I |
probably benign |
Het |
Ush2a |
A |
T |
1: 188,285,425 (GRCm39) |
D1987V |
possibly damaging |
Het |
Vmn1r36 |
A |
T |
6: 66,693,446 (GRCm39) |
I37N |
probably damaging |
Het |
Wif1 |
A |
T |
10: 120,920,855 (GRCm39) |
T226S |
possibly damaging |
Het |
Zfp428 |
A |
G |
7: 24,210,167 (GRCm39) |
D22G |
possibly damaging |
Het |
Zfp521 |
A |
T |
18: 13,976,980 (GRCm39) |
N1144K |
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 |
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 |
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 |
2013-11-05 |