Incidental Mutation 'R1658:Adgrd1'
ID |
186524 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adgrd1
|
Ensembl Gene |
ENSMUSG00000044017 |
Gene Name |
adhesion G protein-coupled receptor D1 |
Synonyms |
Gpr133, E230012M21Rik |
MMRRC Submission |
039694-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1658 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
129173814-129281663 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 129255164 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 604
(S604A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000060307
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056617]
[ENSMUST00000156437]
|
AlphaFold |
Q80T32 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000056617
AA Change: S604A
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000060307 Gene: ENSMUSG00000044017 AA Change: S604A
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: S572A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000121217 Gene: ENSMUSG00000044017 AA Change: S572A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.8%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apbb1 |
G |
A |
7: 105,223,291 (GRCm39) |
P107S |
probably damaging |
Het |
Baz2a |
T |
A |
10: 127,960,252 (GRCm39) |
M1489K |
probably benign |
Het |
Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
Cdca2 |
A |
G |
14: 67,915,148 (GRCm39) |
S704P |
possibly damaging |
Het |
Cemip2 |
T |
C |
19: 21,779,243 (GRCm39) |
V351A |
probably damaging |
Het |
Chfr |
T |
C |
5: 110,301,035 (GRCm39) |
I312T |
probably damaging |
Het |
Csmd1 |
A |
G |
8: 16,131,739 (GRCm39) |
V1662A |
possibly damaging |
Het |
Dgkd |
T |
A |
1: 87,853,990 (GRCm39) |
L611Q |
probably damaging |
Het |
Dicer1 |
A |
G |
12: 104,666,673 (GRCm39) |
V1376A |
probably benign |
Het |
Elp2 |
C |
T |
18: 24,750,470 (GRCm39) |
T269M |
probably benign |
Het |
Ephb6 |
T |
A |
6: 41,591,179 (GRCm39) |
V112E |
probably damaging |
Het |
Fbxo11 |
A |
T |
17: 88,320,086 (GRCm39) |
Y209N |
probably benign |
Het |
Frem1 |
C |
T |
4: 82,920,045 (GRCm39) |
R437Q |
probably damaging |
Het |
G6pc2 |
A |
T |
2: 69,057,413 (GRCm39) |
K353M |
probably damaging |
Het |
Gabbr1 |
A |
G |
17: 37,358,399 (GRCm39) |
T46A |
probably damaging |
Het |
Gbp9 |
T |
A |
5: 105,242,334 (GRCm39) |
Q135L |
probably damaging |
Het |
Gstp1 |
A |
T |
19: 4,087,375 (GRCm39) |
M20K |
probably damaging |
Het |
Heatr6 |
A |
G |
11: 83,649,193 (GRCm39) |
R183G |
probably damaging |
Het |
Ints11 |
A |
G |
4: 155,972,185 (GRCm39) |
K397E |
probably damaging |
Het |
Intu |
A |
G |
3: 40,647,211 (GRCm39) |
T695A |
probably benign |
Het |
Kif21b |
T |
C |
1: 136,099,023 (GRCm39) |
V1437A |
probably damaging |
Het |
Klhl24 |
T |
A |
16: 19,925,842 (GRCm39) |
Y123* |
probably null |
Het |
Lipm |
C |
T |
19: 34,093,847 (GRCm39) |
L255F |
probably benign |
Het |
Max |
A |
T |
12: 76,985,355 (GRCm39) |
M121K |
probably benign |
Het |
Mga |
A |
T |
2: 119,772,170 (GRCm39) |
I1677L |
possibly damaging |
Het |
Msantd1 |
C |
A |
5: 35,078,905 (GRCm39) |
L147M |
probably damaging |
Het |
Msantd1 |
T |
A |
5: 35,078,906 (GRCm39) |
L147Q |
probably benign |
Het |
Mylk4 |
T |
C |
13: 32,896,772 (GRCm39) |
D363G |
possibly damaging |
Het |
Naaa |
T |
C |
5: 92,420,300 (GRCm39) |
|
probably null |
Het |
Ninl |
A |
G |
2: 150,806,079 (GRCm39) |
Y381H |
probably damaging |
Het |
Nwd2 |
A |
G |
5: 63,964,589 (GRCm39) |
N1391S |
probably damaging |
Het |
Or6k8-ps1 |
G |
A |
1: 173,979,789 (GRCm39) |
A236T |
probably damaging |
Het |
Or8g18 |
C |
T |
9: 39,149,255 (GRCm39) |
C155Y |
probably benign |
Het |
Phip |
A |
G |
9: 82,753,551 (GRCm39) |
V1731A |
probably benign |
Het |
Plxnb1 |
T |
A |
9: 108,931,939 (GRCm39) |
C488* |
probably null |
Het |
Rgs7 |
T |
C |
1: 174,907,120 (GRCm39) |
I374V |
probably benign |
Het |
Rin2 |
A |
T |
2: 145,718,376 (GRCm39) |
M574L |
probably benign |
Het |
Rps18 |
A |
T |
17: 34,171,392 (GRCm39) |
D92E |
probably benign |
Het |
Scrn1 |
T |
A |
6: 54,497,791 (GRCm39) |
I267L |
probably benign |
Het |
Stard9 |
T |
C |
2: 120,532,023 (GRCm39) |
V67A |
probably benign |
Het |
Syne1 |
T |
G |
10: 5,317,616 (GRCm39) |
M493L |
probably benign |
Het |
Tbc1d2 |
G |
A |
4: 46,614,207 (GRCm39) |
R625C |
probably damaging |
Het |
Tcerg1l |
A |
G |
7: 137,995,909 (GRCm39) |
S200P |
probably damaging |
Het |
Tet3 |
A |
T |
6: 83,346,039 (GRCm39) |
V1331E |
probably benign |
Het |
Ticrr |
A |
T |
7: 79,345,297 (GRCm39) |
I1721F |
possibly damaging |
Het |
Tjp2 |
T |
C |
19: 24,090,311 (GRCm39) |
D577G |
probably damaging |
Het |
Tmem38b |
A |
G |
4: 53,840,713 (GRCm39) |
M43V |
probably benign |
Het |
Trabd |
T |
A |
15: 88,970,069 (GRCm39) |
|
probably null |
Het |
Trpv5 |
C |
A |
6: 41,651,216 (GRCm39) |
D277Y |
probably damaging |
Het |
Tubb1 |
A |
C |
2: 174,298,416 (GRCm39) |
D67A |
probably damaging |
Het |
Ubxn7 |
A |
G |
16: 32,200,054 (GRCm39) |
|
probably null |
Het |
Ugp2 |
G |
A |
11: 21,283,774 (GRCm39) |
P98S |
probably benign |
Het |
Vmn2r66 |
G |
T |
7: 84,656,955 (GRCm39) |
P150Q |
probably benign |
Het |
Zbtb11 |
A |
T |
16: 55,794,588 (GRCm39) |
H55L |
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 |
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 |
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'- CCTCTTTCTGTGAGGCAAGTCTTGG -3'
(R):5'- TGTCTAAAACCTGCTGACCCTACCC -3'
Sequencing Primer
(F):5'- CAAGTCTTGGAGGTTGGCATTAC -3'
(R):5'- CTGCACCTCAGATATGAAAGTG -3'
|
Posted On |
2014-05-09 |