Incidental Mutation 'IGL02850:Adgrd1'
| ID |
361815 |
| 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 # |
IGL02850
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
129173814-129281663 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 129192119 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 63
(D63G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121217
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056617]
[ENSMUST00000156437]
|
| AlphaFold |
Q80T32 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056617
AA Change: D95G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000060307
Gene: ENSMUSG00000044017
AA Change: D95G
| 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: D63G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121217
Gene: ENSMUSG00000044017
AA Change: D63G
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm1 |
A |
G |
3: 59,843,993 (GRCm39) |
Y229C |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,979,960 (GRCm39) |
T415A |
probably benign |
Het |
| Antxr2 |
A |
G |
5: 98,151,937 (GRCm39) |
V178A |
probably damaging |
Het |
| Ap1s1 |
A |
G |
5: 137,070,634 (GRCm39) |
Y127H |
possibly damaging |
Het |
| Bbs2 |
A |
T |
8: 94,803,710 (GRCm39) |
M510K |
probably benign |
Het |
| Cbfa2t2 |
A |
G |
2: 154,377,090 (GRCm39) |
N591S |
probably damaging |
Het |
| Chd6 |
T |
A |
2: 160,861,536 (GRCm39) |
R504* |
probably null |
Het |
| Cnpy3 |
A |
G |
17: 47,054,217 (GRCm39) |
|
probably benign |
Het |
| Cntn2 |
T |
G |
1: 132,446,114 (GRCm39) |
K824T |
probably benign |
Het |
| Cntnap3 |
T |
C |
13: 64,905,223 (GRCm39) |
T853A |
probably damaging |
Het |
| Cog4 |
G |
A |
8: 111,593,221 (GRCm39) |
G444D |
possibly damaging |
Het |
| Col18a1 |
A |
T |
10: 76,932,300 (GRCm39) |
I510N |
probably damaging |
Het |
| Cxcr5 |
G |
A |
9: 44,425,403 (GRCm39) |
R85W |
probably damaging |
Het |
| Cyth3 |
C |
A |
5: 143,672,259 (GRCm39) |
T58K |
probably damaging |
Het |
| Dio3 |
T |
C |
12: 110,245,970 (GRCm39) |
V102A |
probably damaging |
Het |
| Dmbx1 |
G |
A |
4: 115,775,204 (GRCm39) |
R359C |
probably damaging |
Het |
| Fam3d |
C |
T |
14: 8,361,475 (GRCm38) |
|
probably null |
Het |
| Fras1 |
C |
A |
5: 96,926,034 (GRCm39) |
P3746Q |
probably damaging |
Het |
| Glt1d1 |
T |
A |
5: 127,721,409 (GRCm39) |
M32K |
probably benign |
Het |
| Hunk |
A |
G |
16: 90,229,460 (GRCm39) |
N31S |
probably damaging |
Het |
| Ints11 |
T |
C |
4: 155,959,761 (GRCm39) |
S123P |
probably benign |
Het |
| Izumo2 |
T |
C |
7: 44,358,339 (GRCm39) |
L58S |
probably damaging |
Het |
| Izumo4 |
A |
G |
10: 80,540,032 (GRCm39) |
|
probably benign |
Het |
| Kcnh7 |
T |
A |
2: 62,618,029 (GRCm39) |
K487* |
probably null |
Het |
| Lrp12 |
T |
C |
15: 39,741,971 (GRCm39) |
Y248C |
probably damaging |
Het |
| Maco1 |
T |
C |
4: 134,555,697 (GRCm39) |
K259E |
probably benign |
Het |
| Map3k4 |
T |
C |
17: 12,490,801 (GRCm39) |
D210G |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,890,740 (GRCm39) |
D1038G |
probably damaging |
Het |
| Noa1 |
T |
C |
5: 77,442,338 (GRCm39) |
T651A |
probably benign |
Het |
| Nop2 |
A |
C |
6: 125,121,048 (GRCm39) |
K610T |
possibly damaging |
Het |
| Nop2 |
G |
T |
6: 125,121,033 (GRCm39) |
G605V |
probably benign |
Het |
| Npvf |
G |
A |
6: 50,629,670 (GRCm39) |
R107W |
probably benign |
Het |
| Or10ad1b |
A |
G |
15: 98,125,232 (GRCm39) |
V98A |
probably benign |
Het |
| Or2h2c |
T |
C |
17: 37,422,865 (GRCm39) |
N3S |
probably benign |
Het |
| Oxr1 |
A |
G |
15: 41,718,329 (GRCm39) |
T775A |
probably damaging |
Het |
| P2ry13 |
C |
T |
3: 59,117,029 (GRCm39) |
A250T |
probably damaging |
Het |
| Pcsk9 |
A |
T |
4: 106,316,062 (GRCm39) |
V127E |
probably damaging |
Het |
| Piezo2 |
G |
A |
18: 63,153,704 (GRCm39) |
S2547F |
probably benign |
Het |
| Pinx1 |
A |
G |
14: 64,156,609 (GRCm39) |
T179A |
probably damaging |
Het |
| Pjvk |
T |
C |
2: 76,488,795 (GRCm39) |
V322A |
possibly damaging |
Het |
| Pla2r1 |
T |
A |
2: 60,332,413 (GRCm39) |
R476S |
probably benign |
Het |
| Polb |
A |
G |
8: 23,138,277 (GRCm39) |
|
probably benign |
Het |
| Polg2 |
C |
T |
11: 106,659,293 (GRCm39) |
D407N |
probably damaging |
Het |
| Pou5f2 |
G |
A |
13: 78,173,178 (GRCm39) |
R40Q |
probably benign |
Het |
| Sctr |
T |
C |
1: 119,972,393 (GRCm39) |
M193T |
possibly damaging |
Het |
| Sctr |
T |
A |
1: 119,949,909 (GRCm39) |
C33S |
probably damaging |
Het |
| Sema5b |
T |
C |
16: 35,480,885 (GRCm39) |
S819P |
probably benign |
Het |
| Setd1b |
C |
T |
5: 123,286,652 (GRCm39) |
T566I |
unknown |
Het |
| Sptbn4 |
G |
A |
7: 27,126,258 (GRCm39) |
R222C |
possibly damaging |
Het |
| Taf5l |
A |
G |
8: 124,730,197 (GRCm39) |
V129A |
possibly damaging |
Het |
| Tmem163 |
C |
T |
1: 127,427,984 (GRCm39) |
V201I |
probably benign |
Het |
| Ube3b |
T |
C |
5: 114,544,310 (GRCm39) |
L569P |
probably damaging |
Het |
| Vwa3a |
A |
G |
7: 120,372,515 (GRCm39) |
E301G |
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,914,823 (GRCm39) |
I1660V |
probably benign |
Het |
| Zbtb22 |
T |
A |
17: 34,135,987 (GRCm39) |
L44Q |
probably damaging |
Het |
| Zfp691 |
T |
C |
4: 119,027,389 (GRCm39) |
D281G |
probably damaging |
Het |
| Zfy2 |
C |
T |
Y: 2,106,894 (GRCm39) |
G580D |
probably benign |
Het |
| Zfy2 |
T |
A |
Y: 2,117,188 (GRCm39) |
H213L |
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 |
|
|
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 |
2015-12-18 |
Incidental Mutation