Incidental Mutation 'R8205:Adgrd1'
| ID |
635863 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adgrd1
|
| Ensembl Gene |
ENSMUSG00000044017 |
| Gene Name |
adhesion G protein-coupled receptor D1 |
| Synonyms |
Gpr133, E230012M21Rik |
| MMRRC Submission |
067628-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8205 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
129173814-129281663 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 129192175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 114
(T114A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056617]
[ENSMUST00000156437]
|
| AlphaFold |
Q80T32 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056617
AA Change: T114A
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000060307
Gene: ENSMUSG00000044017
AA Change: T114A
| 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 |
possibly damaging
Transcript: ENSMUST00000156437
AA Change: T82A
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000121217
Gene: ENSMUSG00000044017
AA Change: T82A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
100% (52/52) |
| 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 |
|---|
| Adam39 |
T |
C |
8: 41,278,080 (GRCm39) |
V157A |
probably benign |
Het |
| Adamtsl1 |
A |
G |
4: 86,117,650 (GRCm39) |
*204W |
probably null |
Het |
| Add2 |
A |
G |
6: 86,063,899 (GRCm39) |
E66G |
probably damaging |
Het |
| Aldh7a1 |
A |
T |
18: 56,678,070 (GRCm39) |
I247N |
probably damaging |
Het |
| Ankrd13d |
A |
T |
19: 4,331,009 (GRCm39) |
M166K |
probably damaging |
Het |
| Brd7 |
A |
G |
8: 89,070,243 (GRCm39) |
F388L |
probably damaging |
Het |
| Cap2 |
G |
A |
13: 46,768,739 (GRCm39) |
V182M |
probably damaging |
Het |
| Col22a1 |
A |
T |
15: 71,732,918 (GRCm39) |
V1100E |
unknown |
Het |
| Cracdl |
T |
C |
1: 37,664,047 (GRCm39) |
D617G |
probably benign |
Het |
| Crisp2 |
T |
C |
17: 41,095,969 (GRCm39) |
E63G |
possibly damaging |
Het |
| Dst |
T |
G |
1: 34,253,685 (GRCm39) |
W2304G |
probably damaging |
Het |
| Eif2a |
A |
C |
3: 58,456,156 (GRCm39) |
N385T |
probably damaging |
Het |
| Eif4ebp2 |
A |
T |
10: 61,270,704 (GRCm39) |
H108Q |
probably benign |
Het |
| Fgd3 |
T |
C |
13: 49,449,823 (GRCm39) |
D142G |
probably benign |
Het |
| Gbp8 |
T |
A |
5: 105,198,846 (GRCm39) |
H23L |
probably benign |
Het |
| Glt1d1 |
A |
G |
5: 127,768,080 (GRCm39) |
E229G |
probably benign |
Het |
| Gpatch8 |
T |
C |
11: 102,371,213 (GRCm39) |
D775G |
unknown |
Het |
| Heatr1 |
T |
C |
13: 12,430,928 (GRCm39) |
Y1008H |
probably benign |
Het |
| Heatr5a |
T |
A |
12: 52,005,792 (GRCm39) |
N61I |
probably benign |
Het |
| Hydin |
A |
T |
8: 111,319,270 (GRCm39) |
H4391L |
possibly damaging |
Het |
| Ifi206 |
T |
C |
1: 173,309,450 (GRCm39) |
E182G |
|
Het |
| Mbtps1 |
A |
G |
8: 120,247,077 (GRCm39) |
S789P |
probably damaging |
Het |
| Mex3a |
T |
C |
3: 88,444,159 (GRCm39) |
S412P |
possibly damaging |
Het |
| Msantd5f1 |
G |
A |
4: 73,605,542 (GRCm39) |
V318I |
possibly damaging |
Het |
| Mup2 |
T |
A |
4: 60,137,659 (GRCm39) |
D128V |
probably benign |
Het |
| Ndufaf7 |
G |
A |
17: 79,254,461 (GRCm39) |
C418Y |
probably benign |
Het |
| Nlrp4a |
A |
G |
7: 26,150,219 (GRCm39) |
S609G |
probably benign |
Het |
| Obscn |
T |
A |
11: 58,898,697 (GRCm39) |
Y6554F |
unknown |
Het |
| Odf2l |
A |
G |
3: 144,856,495 (GRCm39) |
|
probably benign |
Het |
| Or14j2 |
A |
T |
17: 37,885,892 (GRCm39) |
C141S |
probably damaging |
Het |
| Or1o11 |
T |
C |
17: 37,757,180 (GRCm39) |
V245A |
probably damaging |
Het |
| Or4c104 |
A |
T |
2: 88,587,016 (GRCm39) |
M1K |
probably null |
Het |
| Plod2 |
G |
T |
9: 92,424,371 (GRCm39) |
|
probably benign |
Het |
| Ptgfr |
A |
G |
3: 151,541,418 (GRCm39) |
V30A |
probably benign |
Het |
| Pxdn |
T |
G |
12: 30,056,566 (GRCm39) |
L1259R |
probably damaging |
Het |
| Rnf6 |
A |
G |
5: 146,147,714 (GRCm39) |
S435P |
probably damaging |
Het |
| Sacm1l |
G |
A |
9: 123,415,724 (GRCm39) |
|
probably null |
Het |
| Scgb2b26 |
T |
C |
7: 33,643,833 (GRCm39) |
T36A |
probably benign |
Het |
| Slc1a7 |
A |
G |
4: 107,865,508 (GRCm39) |
N332S |
probably benign |
Het |
| Slfn5 |
T |
C |
11: 82,851,544 (GRCm39) |
F614L |
probably benign |
Het |
| Smad7 |
C |
A |
18: 75,527,119 (GRCm39) |
Q322K |
probably damaging |
Het |
| Smap1 |
T |
C |
1: 23,888,507 (GRCm39) |
T253A |
probably benign |
Het |
| Socs5 |
G |
T |
17: 87,441,138 (GRCm39) |
R26L |
probably benign |
Het |
| Steap4 |
A |
T |
5: 8,026,795 (GRCm39) |
I253F |
possibly damaging |
Het |
| Tacc1 |
G |
A |
8: 25,672,803 (GRCm39) |
H142Y |
probably benign |
Het |
| Tent5c |
A |
G |
3: 100,380,138 (GRCm39) |
F206S |
probably benign |
Het |
| Tmem117 |
G |
A |
15: 94,992,679 (GRCm39) |
M446I |
probably benign |
Het |
| Trav7-6 |
G |
A |
14: 53,954,550 (GRCm39) |
D47N |
probably benign |
Het |
| Trim2 |
C |
A |
3: 84,100,646 (GRCm39) |
A162S |
probably damaging |
Het |
| Ttc28 |
A |
G |
5: 111,373,596 (GRCm39) |
I1011V |
possibly damaging |
Het |
| Vmn2r98 |
T |
C |
17: 19,301,425 (GRCm39) |
V809A |
probably damaging |
Het |
| Wfikkn1 |
T |
A |
17: 26,097,071 (GRCm39) |
T418S |
probably benign |
Het |
| Zbtb41 |
T |
A |
1: 139,356,919 (GRCm39) |
D391E |
possibly damaging |
Het |
| Zfp109 |
G |
A |
7: 23,928,635 (GRCm39) |
S266F |
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 |
|
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 |
|
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'- ACTATCAGGGAATAACGTGACG -3'
(R):5'- CATGGGCACATTTACTGAGC -3'
Sequencing Primer
(F):5'- TGACGTTATAAATGCATTATGAGGGG -3'
(R):5'- TGGGCACATTTACTGAGCATACAC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation