Incidental Mutation 'R0267:Adgrd1'
ID |
34990 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adgrd1
|
Ensembl Gene |
ENSMUSG00000044017 |
Gene Name |
adhesion G protein-coupled receptor D1 |
Synonyms |
Gpr133, E230012M21Rik |
MMRRC Submission |
038493-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0267 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
129173814-129281663 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 129216658 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 342
(A342T)
|
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: A374T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000060307 Gene: ENSMUSG00000044017 AA Change: A374T
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: A342T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000121217 Gene: ENSMUSG00000044017 AA Change: A342T
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0772 |
Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.7%
- 10x: 96.2%
- 20x: 94.0%
|
Validation Efficiency |
97% (64/66) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
A |
G |
4: 53,046,105 (GRCm39) |
F1721S |
probably damaging |
Het |
Adgrb1 |
G |
A |
15: 74,401,238 (GRCm39) |
R78H |
probably damaging |
Het |
Adrb1 |
A |
T |
19: 56,711,923 (GRCm39) |
K374* |
probably null |
Het |
Aldh18a1 |
C |
A |
19: 40,562,233 (GRCm39) |
V264F |
probably benign |
Het |
Aldh1l2 |
C |
T |
10: 83,358,551 (GRCm39) |
|
probably benign |
Het |
Alox15 |
T |
A |
11: 70,236,979 (GRCm39) |
H393L |
probably damaging |
Het |
Aox1 |
A |
G |
1: 58,378,605 (GRCm39) |
|
probably benign |
Het |
Appbp2 |
T |
C |
11: 85,092,288 (GRCm39) |
Y297C |
probably damaging |
Het |
Atxn2l |
T |
G |
7: 126,092,379 (GRCm39) |
Q950P |
probably damaging |
Het |
Bicd1 |
A |
T |
6: 149,418,540 (GRCm39) |
D737V |
probably damaging |
Het |
C9 |
T |
C |
15: 6,496,939 (GRCm39) |
I212T |
probably benign |
Het |
Ccdc63 |
A |
T |
5: 122,255,107 (GRCm39) |
|
probably benign |
Het |
Chst1 |
C |
A |
2: 92,443,951 (GRCm39) |
P141Q |
probably damaging |
Het |
Cped1 |
T |
A |
6: 22,119,475 (GRCm39) |
F311L |
probably damaging |
Het |
D6Wsu163e |
T |
A |
6: 126,923,454 (GRCm39) |
H113Q |
probably benign |
Het |
Dcn |
A |
T |
10: 97,342,345 (GRCm39) |
|
probably benign |
Het |
Dmbx1 |
C |
T |
4: 115,775,309 (GRCm39) |
A324T |
probably benign |
Het |
Dock10 |
G |
T |
1: 80,490,171 (GRCm39) |
Q1618K |
probably damaging |
Het |
Dpyd |
A |
G |
3: 118,710,921 (GRCm39) |
E443G |
probably benign |
Het |
Espl1 |
T |
C |
15: 102,221,452 (GRCm39) |
V953A |
possibly damaging |
Het |
Exosc10 |
T |
C |
4: 148,647,213 (GRCm39) |
L174P |
probably damaging |
Het |
Foxg1 |
A |
G |
12: 49,432,365 (GRCm39) |
Y366C |
probably damaging |
Het |
Fxyd3 |
T |
C |
7: 30,770,159 (GRCm39) |
|
probably benign |
Het |
Gbp2 |
T |
C |
3: 142,335,867 (GRCm39) |
V189A |
probably benign |
Het |
Gins4 |
T |
C |
8: 23,719,426 (GRCm39) |
|
probably benign |
Het |
Gm12789 |
A |
G |
4: 101,845,319 (GRCm39) |
T3A |
probably benign |
Het |
Gnb1l |
T |
C |
16: 18,366,839 (GRCm39) |
|
probably benign |
Het |
Gtpbp3 |
T |
C |
8: 71,944,141 (GRCm39) |
L295S |
probably damaging |
Het |
Hrh4 |
C |
A |
18: 13,155,455 (GRCm39) |
Y331* |
probably null |
Het |
Hsd11b1 |
A |
T |
1: 192,923,705 (GRCm39) |
Y52N |
probably damaging |
Het |
Jam3 |
A |
G |
9: 27,017,701 (GRCm39) |
I29T |
probably benign |
Het |
Kctd16 |
T |
A |
18: 40,663,930 (GRCm39) |
I353N |
probably benign |
Het |
Lama4 |
G |
T |
10: 38,904,635 (GRCm39) |
G246C |
probably damaging |
Het |
Lhx3 |
T |
A |
2: 26,093,040 (GRCm39) |
M137L |
probably benign |
Het |
Morc2a |
T |
C |
11: 3,628,567 (GRCm39) |
I340T |
probably benign |
Het |
Myo7a |
A |
C |
7: 97,703,831 (GRCm39) |
I1969S |
probably benign |
Het |
Or14a258 |
T |
C |
7: 86,035,475 (GRCm39) |
E131G |
possibly damaging |
Het |
Or5b116 |
T |
A |
19: 13,422,792 (GRCm39) |
C139S |
probably damaging |
Het |
Or6n1 |
A |
G |
1: 173,916,732 (GRCm39) |
N42S |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,731,194 (GRCm39) |
L3232P |
unknown |
Het |
Polr1a |
T |
G |
6: 71,951,123 (GRCm39) |
I1407M |
probably damaging |
Het |
Ppip5k2 |
A |
G |
1: 97,656,722 (GRCm39) |
V817A |
probably damaging |
Het |
Rbfox3 |
T |
C |
11: 118,386,066 (GRCm39) |
T280A |
probably benign |
Het |
Rfx3 |
T |
C |
19: 27,771,188 (GRCm39) |
D521G |
probably benign |
Het |
Scn5a |
C |
T |
9: 119,372,201 (GRCm39) |
V223I |
probably damaging |
Het |
Sgsm3 |
T |
G |
15: 80,890,803 (GRCm39) |
M119R |
probably damaging |
Het |
Slc6a7 |
T |
A |
18: 61,129,783 (GRCm39) |
M608L |
probably benign |
Het |
Slit2 |
A |
G |
5: 48,339,673 (GRCm39) |
|
probably benign |
Het |
Steap2 |
T |
A |
5: 5,723,561 (GRCm39) |
I440F |
probably benign |
Het |
Syn2 |
T |
G |
6: 115,231,111 (GRCm39) |
|
probably benign |
Het |
Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
Tfb2m |
G |
A |
1: 179,361,203 (GRCm39) |
H262Y |
probably benign |
Het |
Trmt1l |
A |
G |
1: 151,333,426 (GRCm39) |
|
probably benign |
Het |
Trpm6 |
C |
A |
19: 18,800,742 (GRCm39) |
P819T |
probably benign |
Het |
Ttn |
G |
A |
2: 76,574,033 (GRCm39) |
A25620V |
probably damaging |
Het |
Ubn2 |
T |
C |
6: 38,459,553 (GRCm39) |
|
probably null |
Het |
Vars1 |
T |
C |
17: 35,230,572 (GRCm39) |
|
probably benign |
Het |
Vip |
A |
T |
10: 5,594,004 (GRCm39) |
D119V |
possibly damaging |
Het |
Vmn2r92 |
C |
T |
17: 18,388,219 (GRCm39) |
A408V |
probably damaging |
Het |
Vps33b |
T |
C |
7: 79,935,802 (GRCm39) |
I405T |
possibly damaging |
Het |
Zbtb21 |
T |
A |
16: 97,753,300 (GRCm39) |
S356C |
probably damaging |
Het |
Zdhhc6 |
A |
T |
19: 55,297,362 (GRCm39) |
S237T |
probably benign |
Het |
Zfp142 |
G |
A |
1: 74,615,223 (GRCm39) |
A427V |
probably benign |
Het |
Zfp692 |
T |
A |
11: 58,205,140 (GRCm39) |
V463E |
possibly damaging |
Het |
Zmynd8 |
A |
T |
2: 165,670,322 (GRCm39) |
I384N |
probably 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 |
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'- GCATCCTGTGCTCCAAGAACTCATC -3'
(R):5'- AGCTGCTGTGTAAAGACCAATGACC -3'
Sequencing Primer
(F):5'- CAAGAACTCATCGGGTCAGGTC -3'
(R):5'- CTCCCAACCTGATAATGGCT -3'
|
Posted On |
2013-05-09 |