Incidental Mutation 'IGL02149:Adgrd1'
ID |
281883 |
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 # |
IGL02149
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
129173814-129281663 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 129256325 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Tyrosine
at position 652
(F652Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000060307
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056617]
[ENSMUST00000156437]
|
AlphaFold |
Q80T32 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000056617
AA Change: F652Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000060307 Gene: ENSMUSG00000044017 AA Change: F652Y
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 damaging
Transcript: ENSMUST00000156437
AA Change: F620Y
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000121217 Gene: ENSMUSG00000044017 AA Change: F620Y
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam10 |
A |
T |
9: 70,610,713 (GRCm39) |
H67L |
probably damaging |
Het |
Adgrb1 |
C |
T |
15: 74,412,326 (GRCm39) |
T435I |
probably damaging |
Het |
Adgrl4 |
T |
A |
3: 151,205,991 (GRCm39) |
F250Y |
possibly damaging |
Het |
Aebp2 |
C |
T |
6: 140,588,010 (GRCm39) |
A360V |
probably benign |
Het |
AW551984 |
A |
C |
9: 39,504,220 (GRCm39) |
M582R |
probably benign |
Het |
B430306N03Rik |
T |
C |
17: 48,624,020 (GRCm39) |
V107A |
probably benign |
Het |
Cage1 |
T |
C |
13: 38,206,505 (GRCm39) |
N447D |
probably damaging |
Het |
Col17a1 |
T |
C |
19: 47,657,071 (GRCm39) |
D524G |
probably benign |
Het |
Dpp6 |
A |
T |
5: 27,743,022 (GRCm39) |
I218F |
probably benign |
Het |
Ep300 |
T |
G |
15: 81,512,621 (GRCm39) |
|
probably benign |
Het |
Ephb2 |
C |
T |
4: 136,421,225 (GRCm39) |
C375Y |
probably damaging |
Het |
Fastk |
A |
G |
5: 24,649,051 (GRCm39) |
V112A |
probably damaging |
Het |
Fbxo11 |
T |
A |
17: 88,301,187 (GRCm39) |
R775S |
possibly damaging |
Het |
Fbxw20 |
A |
G |
9: 109,062,886 (GRCm39) |
|
probably null |
Het |
Hamp2 |
G |
T |
7: 30,622,122 (GRCm39) |
A50E |
probably damaging |
Het |
Il22b |
C |
A |
10: 118,130,902 (GRCm39) |
|
probably benign |
Het |
Ints1 |
G |
A |
5: 139,737,715 (GRCm39) |
R2139C |
probably damaging |
Het |
Itgae |
T |
A |
11: 72,994,720 (GRCm39) |
V24E |
probably benign |
Het |
Jakmip3 |
G |
A |
7: 138,609,075 (GRCm39) |
V60M |
possibly damaging |
Het |
Kcnk10 |
A |
C |
12: 98,485,099 (GRCm39) |
|
probably benign |
Het |
Klra1 |
A |
T |
6: 130,352,293 (GRCm39) |
C150S |
probably damaging |
Het |
Lhx9 |
A |
T |
1: 138,759,172 (GRCm39) |
V376E |
probably damaging |
Het |
Mdm1 |
T |
A |
10: 117,983,970 (GRCm39) |
F199I |
probably damaging |
Het |
Nipal3 |
G |
T |
4: 135,194,163 (GRCm39) |
T290K |
possibly damaging |
Het |
Obsl1 |
C |
T |
1: 75,480,464 (GRCm39) |
E387K |
probably damaging |
Het |
Or8b43 |
A |
G |
9: 38,360,693 (GRCm39) |
H175R |
probably damaging |
Het |
Oxct1 |
A |
G |
15: 4,120,711 (GRCm39) |
Y265C |
probably damaging |
Het |
Pccb |
G |
A |
9: 100,867,243 (GRCm39) |
H411Y |
probably damaging |
Het |
Pkp1 |
A |
G |
1: 135,814,485 (GRCm39) |
S279P |
probably benign |
Het |
Prdm14 |
C |
A |
1: 13,195,663 (GRCm39) |
G133C |
probably benign |
Het |
Prkaa2 |
A |
T |
4: 104,897,285 (GRCm39) |
N309K |
probably benign |
Het |
Shc2 |
T |
C |
10: 79,458,102 (GRCm39) |
D527G |
probably damaging |
Het |
Shkbp1 |
C |
T |
7: 27,042,064 (GRCm39) |
|
probably benign |
Het |
Skil |
T |
C |
3: 31,151,856 (GRCm39) |
V126A |
possibly damaging |
Het |
Slc25a36 |
A |
T |
9: 96,975,122 (GRCm39) |
|
probably benign |
Het |
Slc2a13 |
T |
C |
15: 91,227,924 (GRCm39) |
T423A |
probably benign |
Het |
Spty2d1 |
A |
G |
7: 46,657,892 (GRCm39) |
|
probably benign |
Het |
Stag1 |
A |
G |
9: 100,769,442 (GRCm39) |
D519G |
probably benign |
Het |
Tmprss2 |
G |
T |
16: 97,400,479 (GRCm39) |
|
probably benign |
Het |
Trim66 |
G |
T |
7: 109,060,109 (GRCm39) |
T759K |
possibly damaging |
Het |
Trpc4ap |
C |
A |
2: 155,481,467 (GRCm39) |
A530S |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,642,099 (GRCm39) |
D11625E |
probably damaging |
Het |
Ube4b |
T |
C |
4: 149,483,141 (GRCm39) |
I42M |
possibly damaging |
Het |
Ubxn10 |
A |
G |
4: 138,448,584 (GRCm39) |
S31P |
probably benign |
Het |
Ubxn7 |
A |
G |
16: 32,194,088 (GRCm39) |
Y220C |
probably damaging |
Het |
Vmn1r234 |
A |
G |
17: 21,449,269 (GRCm39) |
Y61C |
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 |
|
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 |
2015-04-16 |