Incidental Mutation 'PIT4458001:Adgrd1'
ID |
555906 |
Institutional Source |
Beutler Lab
|
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 # |
PIT4458001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
129173814-129281663 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 129208641 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 281
(G281D)
|
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: G281D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000060307 Gene: ENSMUSG00000044017 AA Change: G281D
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: G249D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121217 Gene: ENSMUSG00000044017 AA Change: G249D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 93.1%
- 3x: 90.8%
- 10x: 85.3%
- 20x: 73.0%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
G |
T |
11: 9,248,304 (GRCm39) |
V2684L |
probably benign |
Het |
Adamts9 |
T |
A |
6: 92,866,886 (GRCm39) |
I718F |
probably damaging |
Het |
Adcyap1r1 |
A |
G |
6: 55,455,067 (GRCm39) |
D110G |
probably benign |
Het |
Afg1l |
A |
T |
10: 42,330,366 (GRCm39) |
C100* |
probably null |
Het |
Atp2a2 |
G |
A |
5: 122,595,372 (GRCm39) |
Q993* |
probably null |
Het |
Baz1a |
A |
G |
12: 54,977,095 (GRCm39) |
M389T |
probably benign |
Het |
Btnl4 |
T |
A |
17: 34,693,242 (GRCm39) |
M58L |
probably benign |
Het |
Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
Cpeb1 |
A |
T |
7: 80,998,180 (GRCm39) |
F533Y |
probably damaging |
Het |
Ctnna1 |
T |
A |
18: 35,308,179 (GRCm39) |
N166K |
possibly damaging |
Het |
Ecsit |
T |
C |
9: 21,987,580 (GRCm39) |
H153R |
probably damaging |
Het |
Gbp8 |
T |
C |
5: 105,162,955 (GRCm39) |
K480E |
probably benign |
Het |
Glyat |
A |
T |
19: 12,625,373 (GRCm39) |
T66S |
probably benign |
Het |
Gm1110 |
T |
C |
9: 26,792,124 (GRCm39) |
Q632R |
probably benign |
Het |
Gm12185 |
C |
T |
11: 48,798,738 (GRCm39) |
R585Q |
probably damaging |
Het |
Gm17669 |
TAA |
TAAA |
18: 67,695,819 (GRCm39) |
|
probably null |
Het |
Gm7489 |
A |
C |
15: 53,749,195 (GRCm39) |
E89A |
unknown |
Het |
Grb7 |
C |
T |
11: 98,344,655 (GRCm39) |
Q353* |
probably null |
Het |
Ifi207 |
G |
A |
1: 173,562,738 (GRCm39) |
T136I |
unknown |
Het |
Ighv3-1 |
T |
C |
12: 113,928,224 (GRCm39) |
Y45C |
probably benign |
Het |
Ing5 |
A |
G |
1: 93,739,668 (GRCm39) |
M92V |
possibly damaging |
Het |
Ivl |
TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
3: 92,479,608 (GRCm39) |
|
probably benign |
Het |
Kdm6b |
A |
T |
11: 69,290,778 (GRCm39) |
D1630E |
unknown |
Het |
Lmo7 |
C |
T |
14: 102,124,923 (GRCm39) |
Q583* |
probably null |
Het |
Lrrc37a |
T |
C |
11: 103,395,338 (GRCm39) |
D29G |
probably benign |
Het |
Mpdz |
G |
T |
4: 81,337,263 (GRCm39) |
A10D |
probably damaging |
Het |
Myh4 |
A |
G |
11: 67,131,821 (GRCm39) |
M94V |
possibly damaging |
Het |
Nectin2 |
A |
C |
7: 19,472,252 (GRCm39) |
L46V |
probably benign |
Het |
Nynrin |
A |
T |
14: 56,101,425 (GRCm39) |
T365S |
probably benign |
Het |
Or4c120 |
A |
T |
2: 89,000,977 (GRCm39) |
I193K |
probably benign |
Het |
Pde4b |
A |
C |
4: 102,459,875 (GRCm39) |
E570A |
probably damaging |
Het |
Phf3 |
T |
C |
1: 30,855,622 (GRCm39) |
H988R |
probably damaging |
Het |
Ppfia2 |
A |
G |
10: 106,763,708 (GRCm39) |
K1234E |
probably benign |
Het |
Prl7c1 |
A |
T |
13: 27,957,741 (GRCm39) |
M233K |
probably benign |
Het |
Prp2 |
C |
T |
6: 132,577,510 (GRCm39) |
P266S |
unknown |
Het |
Ralgds |
T |
C |
2: 28,432,486 (GRCm39) |
L160P |
probably damaging |
Het |
Rasa1 |
A |
T |
13: 85,375,237 (GRCm39) |
M664K |
possibly damaging |
Het |
Ryr2 |
T |
C |
13: 11,570,334 (GRCm39) |
T4930A |
probably benign |
Het |
Senp8 |
T |
C |
9: 59,644,763 (GRCm39) |
Y131C |
probably damaging |
Het |
Sp100 |
A |
G |
1: 85,635,837 (GRCm39) |
I547M |
probably benign |
Het |
Spata20 |
A |
G |
11: 94,375,434 (GRCm39) |
M120T |
probably damaging |
Het |
Spata31 |
A |
G |
13: 65,069,664 (GRCm39) |
H604R |
probably benign |
Het |
Sycp1 |
A |
T |
3: 102,842,149 (GRCm39) |
S53T |
probably benign |
Het |
Tgm1 |
T |
C |
14: 55,950,022 (GRCm39) |
D62G |
unknown |
Het |
Trpm1 |
G |
C |
7: 63,918,309 (GRCm39) |
E1434Q |
possibly damaging |
Het |
Tshb |
A |
T |
3: 102,685,480 (GRCm39) |
Y50N |
probably damaging |
Het |
Wdr17 |
A |
T |
8: 55,126,614 (GRCm39) |
Y413* |
probably null |
Het |
Zdhhc16 |
G |
A |
19: 41,926,209 (GRCm39) |
G55R |
possibly 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCTTGCATGAACGGTGTTC -3'
(R):5'- AGGGATGCTTTAATCCTCAGACTC -3'
Sequencing Primer
(F):5'- GAACGGTGTTCAGAAGCAATTTAC -3'
(R):5'- TAATGCATGGAGTAAGAGCCCTTCC -3'
|
Posted On |
2019-06-07 |