Incidental Mutation 'R5453:Adgrd1'
| ID |
432622 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adgrd1
|
| Ensembl Gene |
ENSMUSG00000044017 |
| Gene Name |
adhesion G protein-coupled receptor D1 |
| Synonyms |
E230012M21Rik, Gpr133 |
| MMRRC Submission |
043017-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5453 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
129096750-129204599 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 129179583 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 640
(F640S)
|
| 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: F672S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000060307
Gene: ENSMUSG00000044017
AA Change: F672S
| 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: F640S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000121217
Gene: ENSMUSG00000044017
AA Change: F640S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921507P07Rik |
A |
G |
6: 50,595,796 (GRCm38) |
|
probably null |
Het |
| Abca5 |
G |
A |
11: 110,319,796 (GRCm38) |
Q186* |
probably null |
Het |
| Adamts20 |
T |
C |
15: 94,326,088 (GRCm38) |
E1253G |
possibly damaging |
Het |
| Anxa1 |
C |
T |
19: 20,380,339 (GRCm38) |
|
probably null |
Het |
| Babam2 |
A |
G |
5: 32,007,246 (GRCm38) |
E288G |
probably damaging |
Het |
| Cd163 |
C |
T |
6: 124,312,541 (GRCm38) |
A406V |
probably damaging |
Het |
| Cdh13 |
A |
T |
8: 119,198,967 (GRCm38) |
D358V |
probably damaging |
Het |
| Cdk10 |
A |
G |
8: 123,226,392 (GRCm38) |
I45V |
probably benign |
Het |
| Crybg2 |
A |
T |
4: 134,078,836 (GRCm38) |
|
probably null |
Het |
| Dnhd1 |
A |
G |
7: 105,710,123 (GRCm38) |
D3555G |
probably damaging |
Het |
| Dync1h1 |
A |
G |
12: 110,632,665 (GRCm38) |
D1818G |
probably benign |
Het |
| Emsy |
T |
C |
7: 98,600,806 (GRCm38) |
K758R |
probably damaging |
Het |
| Fam126a |
A |
G |
5: 23,987,879 (GRCm38) |
|
probably null |
Het |
| Fat3 |
A |
G |
9: 15,996,864 (GRCm38) |
V2614A |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,128,228 (GRCm38) |
I190T |
possibly damaging |
Het |
| Hoxb3 |
T |
C |
11: 96,344,654 (GRCm38) |
S136P |
probably damaging |
Het |
| Hras |
A |
C |
7: 141,192,855 (GRCm38) |
V29G |
probably damaging |
Het |
| Igll1 |
A |
G |
16: 16,863,694 (GRCm38) |
|
probably null |
Het |
| Insr |
G |
A |
8: 3,155,694 (GRCm38) |
T1365I |
probably benign |
Het |
| Kitl |
T |
A |
10: 100,087,385 (GRCm38) |
W187R |
probably damaging |
Het |
| Klb |
T |
A |
5: 65,383,385 (GRCm38) |
F940L |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 41,282,237 (GRCm38) |
R725K |
probably damaging |
Het |
| Map4 |
C |
T |
9: 110,037,783 (GRCm38) |
|
probably benign |
Het |
| Mrps35 |
A |
G |
6: 147,070,617 (GRCm38) |
S253G |
probably benign |
Het |
| Mycbp2 |
C |
T |
14: 103,201,401 (GRCm38) |
E2015K |
probably damaging |
Het |
| Nyap2 |
A |
C |
1: 81,192,142 (GRCm38) |
I205L |
probably benign |
Het |
| Olfr103 |
T |
C |
17: 37,337,062 (GRCm38) |
M57V |
possibly damaging |
Het |
| Olfr427 |
A |
G |
1: 174,099,467 (GRCm38) |
K3R |
probably benign |
Het |
| Rab11fip3 |
C |
T |
17: 25,992,581 (GRCm38) |
|
probably null |
Het |
| Rbm47 |
A |
G |
5: 66,027,182 (GRCm38) |
V26A |
probably benign |
Het |
| Ripk2 |
A |
T |
4: 16,151,989 (GRCm38) |
I190N |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,108,934 (GRCm38) |
R281C |
probably damaging |
Het |
| Ttc17 |
A |
T |
2: 94,303,560 (GRCm38) |
N1150K |
probably damaging |
Het |
| Zfp108 |
G |
T |
7: 24,261,264 (GRCm38) |
G427W |
probably damaging |
Het |
| Zfp84 |
A |
G |
7: 29,776,297 (GRCm38) |
E138G |
possibly damaging |
Het |
|
| Other mutations in Adgrd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01084:Adgrd1
|
APN |
5 |
129,139,592 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL01384:Adgrd1
|
APN |
5 |
129,097,209 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
IGL01636:Adgrd1
|
APN |
5 |
129,142,452 (GRCm38) |
splice site |
probably benign |
|
|
IGL01916:Adgrd1
|
APN |
5 |
129,132,838 (GRCm38) |
missense |
probably benign |
0.12 |
|
IGL01923:Adgrd1
|
APN |
5 |
129,178,079 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
IGL02019:Adgrd1
|
APN |
5 |
129,115,138 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02142:Adgrd1
|
APN |
5 |
129,131,584 (GRCm38) |
missense |
probably benign |
|
|
IGL02149:Adgrd1
|
APN |
5 |
129,179,261 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02190:Adgrd1
|
APN |
5 |
129,140,724 (GRCm38) |
splice site |
probably benign |
|
|
IGL02623:Adgrd1
|
APN |
5 |
129,132,745 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02696:Adgrd1
|
APN |
5 |
129,140,854 (GRCm38) |
splice site |
probably benign |
|
|
IGL02850:Adgrd1
|
APN |
5 |
129,115,055 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02976:Adgrd1
|
APN |
5 |
129,131,597 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02988:Adgrd1
|
UTSW |
5 |
129,144,010 (GRCm38) |
missense |
probably benign |
0.00 |
|
PIT4458001:Adgrd1
|
UTSW |
5 |
129,131,577 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0081:Adgrd1
|
UTSW |
5 |
129,178,082 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0266:Adgrd1
|
UTSW |
5 |
129,139,594 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0267:Adgrd1
|
UTSW |
5 |
129,139,594 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0464:Adgrd1
|
UTSW |
5 |
129,162,650 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0625:Adgrd1
|
UTSW |
5 |
129,171,931 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1288:Adgrd1
|
UTSW |
5 |
129,129,007 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1460:Adgrd1
|
UTSW |
5 |
129,122,563 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R1635:Adgrd1
|
UTSW |
5 |
129,128,907 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1658:Adgrd1
|
UTSW |
5 |
129,178,100 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1709:Adgrd1
|
UTSW |
5 |
129,179,228 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1897:Adgrd1
|
UTSW |
5 |
129,129,001 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1976:Adgrd1
|
UTSW |
5 |
129,140,797 (GRCm38) |
missense |
probably benign |
0.06 |
|
R2049:Adgrd1
|
UTSW |
5 |
129,115,095 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2259:Adgrd1
|
UTSW |
5 |
129,112,311 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R2295:Adgrd1
|
UTSW |
5 |
129,122,506 (GRCm38) |
missense |
probably benign |
0.13 |
|
R3076:Adgrd1
|
UTSW |
5 |
129,129,105 (GRCm38) |
missense |
probably benign |
0.20 |
|
R3077:Adgrd1
|
UTSW |
5 |
129,129,105 (GRCm38) |
missense |
probably benign |
0.20 |
|
R3078:Adgrd1
|
UTSW |
5 |
129,129,105 (GRCm38) |
missense |
probably benign |
0.20 |
|
R4581:Adgrd1
|
UTSW |
5 |
129,202,531 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R5024:Adgrd1
|
UTSW |
5 |
129,171,895 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5076:Adgrd1
|
UTSW |
5 |
129,143,989 (GRCm38) |
nonsense |
probably null |
|
|
R5227:Adgrd1
|
UTSW |
5 |
129,122,583 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6349:Adgrd1
|
UTSW |
5 |
129,142,539 (GRCm38) |
splice site |
probably null |
|
|
R6953:Adgrd1
|
UTSW |
5 |
129,115,078 (GRCm38) |
nonsense |
probably null |
|
|
R7300:Adgrd1
|
UTSW |
5 |
129,097,347 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7583:Adgrd1
|
UTSW |
5 |
129,179,588 (GRCm38) |
missense |
probably benign |
0.42 |
|
R7622:Adgrd1
|
UTSW |
5 |
129,139,624 (GRCm38) |
missense |
probably benign |
0.27 |
|
R8205:Adgrd1
|
UTSW |
5 |
129,115,111 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8716:Adgrd1
|
UTSW |
5 |
129,188,371 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8780:Adgrd1
|
UTSW |
5 |
129,097,074 (GRCm38) |
start gained |
probably benign |
|
|
R8850:Adgrd1
|
UTSW |
5 |
129,142,510 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9528:Adgrd1
|
UTSW |
5 |
129,179,676 (GRCm38) |
missense |
probably benign |
0.44 |
|
R9569:Adgrd1
|
UTSW |
5 |
129,179,637 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R9626:Adgrd1
|
UTSW |
5 |
129,198,657 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0067:Adgrd1
|
UTSW |
5 |
129,188,352 (GRCm38) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGAAACTGAGCCTTGCCTC -3'
(R):5'- AGAACCCATTCCATTCCATCTG -3'
Sequencing Primer
(F):5'- TCCCCAGGAATAAAATGAGGTCCTG -3'
(R):5'- ATATTAATAGGTCCCACCCCTGC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation