Incidental Mutation 'IGL01084:Adgrd1'
| ID |
51066 |
| 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 # |
IGL01084
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
129173814-129281663 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 129216656 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 341
(N341I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121217
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056617]
[ENSMUST00000156437]
|
| AlphaFold |
Q80T32 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056617
AA Change: N373I
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000060307
Gene: ENSMUSG00000044017
AA Change: N373I
| 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
AA Change: N341I
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000121217
Gene: ENSMUSG00000044017
AA Change: N341I
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aagab |
C |
A |
9: 63,546,901 (GRCm39) |
Q284K |
probably damaging |
Het |
| Arhgap40 |
T |
C |
2: 158,385,138 (GRCm39) |
F457S |
probably damaging |
Het |
| Cacng5 |
C |
T |
11: 107,772,531 (GRCm39) |
V106I |
probably benign |
Het |
| Catsper1 |
G |
A |
19: 5,387,800 (GRCm39) |
V360M |
probably damaging |
Het |
| Cdc42bpa |
T |
A |
1: 179,969,839 (GRCm39) |
|
probably benign |
Het |
| Cep250 |
C |
T |
2: 155,840,313 (GRCm39) |
H2424Y |
probably benign |
Het |
| Cln3 |
T |
C |
7: 126,174,426 (GRCm39) |
E304G |
probably damaging |
Het |
| Eml2 |
T |
A |
7: 18,924,663 (GRCm39) |
C177* |
probably null |
Het |
| Epha5 |
G |
A |
5: 84,218,946 (GRCm39) |
R917* |
probably null |
Het |
| Gabra2 |
A |
G |
5: 71,163,576 (GRCm39) |
F244L |
probably damaging |
Het |
| Gars1 |
C |
A |
6: 55,032,812 (GRCm39) |
D261E |
probably benign |
Het |
| Gata3os |
A |
G |
2: 9,887,884 (GRCm39) |
|
probably benign |
Het |
| Keg1 |
A |
G |
19: 12,691,976 (GRCm39) |
K98E |
probably damaging |
Het |
| Kif13a |
A |
G |
13: 46,904,110 (GRCm39) |
|
probably benign |
Het |
| Matn1 |
A |
G |
4: 130,679,245 (GRCm39) |
K300E |
probably benign |
Het |
| Mesp1 |
A |
G |
7: 79,442,831 (GRCm39) |
S149P |
probably benign |
Het |
| Mmp10 |
T |
C |
9: 7,505,651 (GRCm39) |
V305A |
possibly damaging |
Het |
| Muc5b |
T |
C |
7: 141,397,186 (GRCm39) |
|
probably benign |
Het |
| Myof |
T |
C |
19: 37,924,884 (GRCm39) |
T1181A |
probably damaging |
Het |
| Or1r1 |
A |
T |
11: 73,875,353 (GRCm39) |
L27Q |
probably damaging |
Het |
| Or5d35 |
T |
C |
2: 87,855,347 (GRCm39) |
S94P |
probably benign |
Het |
| Or9i16 |
G |
T |
19: 13,864,866 (GRCm39) |
T236N |
probably damaging |
Het |
| Osbpl11 |
T |
C |
16: 33,047,221 (GRCm39) |
|
probably benign |
Het |
| Prune2 |
T |
C |
19: 17,095,573 (GRCm39) |
V359A |
probably benign |
Het |
| Ptch1 |
T |
A |
13: 63,691,451 (GRCm39) |
E267D |
probably damaging |
Het |
| Rbl2 |
A |
G |
8: 91,848,941 (GRCm39) |
E1049G |
probably damaging |
Het |
| Ruvbl2 |
A |
T |
7: 45,071,947 (GRCm39) |
|
probably null |
Het |
| Sec23b |
A |
G |
2: 144,406,509 (GRCm39) |
I101M |
possibly damaging |
Het |
| Srms |
A |
C |
2: 180,848,177 (GRCm39) |
|
probably null |
Het |
| Svep1 |
T |
A |
4: 58,111,419 (GRCm39) |
T1067S |
possibly damaging |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Tmem127 |
T |
C |
2: 127,099,006 (GRCm39) |
V180A |
probably damaging |
Het |
| Trpm7 |
A |
G |
2: 126,687,992 (GRCm39) |
|
probably null |
Het |
| Trpv3 |
G |
A |
11: 73,184,826 (GRCm39) |
|
probably null |
Het |
| Tti1 |
C |
T |
2: 157,824,379 (GRCm39) |
V1025I |
probably damaging |
Het |
| Vmn2r80 |
A |
G |
10: 79,030,433 (GRCm39) |
Y753C |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,881,525 (GRCm39) |
L1350S |
probably benign |
Het |
| Zfp287 |
G |
T |
11: 62,604,716 (GRCm39) |
Y730* |
probably null |
Het |
| Zfp583 |
A |
G |
7: 6,320,184 (GRCm39) |
F276S |
probably damaging |
Het |
| Zfp638 |
T |
C |
6: 83,921,780 (GRCm39) |
Y636H |
probably benign |
Het |
|
| Other mutations in Adgrd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation