Incidental Mutation 'R6953:Adgrd1'
| ID |
541305 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adgrd1
|
| Ensembl Gene |
ENSMUSG00000044017 |
| Gene Name |
adhesion G protein-coupled receptor D1 |
| Synonyms |
Gpr133, E230012M21Rik |
| MMRRC Submission |
045065-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6953 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
129173814-129281663 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 129192142 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 71
(K71*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121217
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056617]
[ENSMUST00000156437]
|
| AlphaFold |
Q80T32 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000056617
AA Change: K103*
|
| SMART Domains |
Protein: ENSMUSP00000060307
Gene: ENSMUSG00000044017
AA Change: K103*
| 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 null
Transcript: ENSMUST00000156437
AA Change: K71*
|
| SMART Domains |
Protein: ENSMUSP00000121217
Gene: ENSMUSG00000044017
AA Change: K71*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.3%
|
| Validation Efficiency |
98% (54/55) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
C |
A |
15: 57,892,223 (GRCm39) |
S128I |
probably damaging |
Het |
| Aadacl2 |
A |
C |
3: 59,932,181 (GRCm39) |
H232P |
possibly damaging |
Het |
| Abcc3 |
A |
G |
11: 94,265,661 (GRCm39) |
Y125H |
probably benign |
Het |
| Adgrb3 |
A |
G |
1: 25,865,592 (GRCm39) |
S84P |
probably damaging |
Het |
| Ap2m1 |
T |
A |
16: 20,361,468 (GRCm39) |
W381R |
probably damaging |
Het |
| Ascc3 |
A |
G |
10: 50,521,762 (GRCm39) |
I426V |
probably benign |
Het |
| BC024063 |
T |
A |
10: 81,943,733 (GRCm39) |
D31E |
possibly damaging |
Het |
| C3ar1 |
G |
A |
6: 122,827,591 (GRCm39) |
H209Y |
possibly damaging |
Het |
| Ccp110 |
T |
C |
7: 118,321,644 (GRCm39) |
V433A |
possibly damaging |
Het |
| Cfap54 |
A |
G |
10: 92,830,540 (GRCm39) |
S1199P |
probably benign |
Het |
| Cyp24a1 |
T |
G |
2: 170,329,866 (GRCm39) |
D362A |
probably benign |
Het |
| Dapk2 |
C |
G |
9: 66,161,904 (GRCm39) |
R271G |
probably benign |
Het |
| Dnmt1 |
G |
T |
9: 20,829,822 (GRCm39) |
Q633K |
probably benign |
Het |
| Ercc4 |
T |
A |
16: 12,948,550 (GRCm39) |
V499D |
probably damaging |
Het |
| Ier3ip1 |
C |
G |
18: 77,027,309 (GRCm39) |
P46R |
probably damaging |
Het |
| Ifi211 |
T |
C |
1: 173,733,832 (GRCm39) |
T110A |
probably damaging |
Het |
| Isoc1 |
A |
G |
18: 58,804,374 (GRCm39) |
D134G |
possibly damaging |
Het |
| Kif26b |
A |
G |
1: 178,701,637 (GRCm39) |
D672G |
possibly damaging |
Het |
| Klhl33 |
T |
A |
14: 51,128,973 (GRCm39) |
D752V |
possibly damaging |
Het |
| Lcn4 |
A |
G |
2: 26,559,367 (GRCm39) |
Y133H |
probably benign |
Het |
| Mrs2 |
C |
A |
13: 25,185,771 (GRCm39) |
V134L |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,551,825 (GRCm39) |
T4823A |
probably benign |
Het |
| Ogfod3 |
A |
G |
11: 121,093,824 (GRCm39) |
I62T |
probably benign |
Het |
| Or2m13 |
C |
T |
16: 19,226,278 (GRCm39) |
V164I |
probably benign |
Het |
| Or2y10 |
A |
G |
11: 49,455,117 (GRCm39) |
Y123C |
probably damaging |
Het |
| Or6c204 |
A |
T |
10: 129,022,474 (GRCm39) |
M272K |
probably benign |
Het |
| Or7e175 |
A |
T |
9: 20,049,299 (GRCm39) |
I296L |
probably benign |
Het |
| Papln |
G |
A |
12: 83,828,659 (GRCm39) |
W788* |
probably null |
Het |
| Pcdhac2 |
A |
G |
18: 37,277,479 (GRCm39) |
Q153R |
probably benign |
Het |
| Pcdhgb2 |
C |
T |
18: 37,823,807 (GRCm39) |
T266I |
possibly damaging |
Het |
| Pcdhgc5 |
C |
A |
18: 37,953,514 (GRCm39) |
R263S |
possibly damaging |
Het |
| Phactr4 |
T |
C |
4: 132,104,662 (GRCm39) |
T185A |
possibly damaging |
Het |
| Plcxd2 |
T |
C |
16: 45,800,882 (GRCm39) |
D114G |
probably damaging |
Het |
| Polr2a |
A |
T |
11: 69,632,537 (GRCm39) |
I987N |
probably damaging |
Het |
| Prl3d3 |
A |
G |
13: 27,345,029 (GRCm39) |
M134V |
probably benign |
Het |
| Pum2 |
T |
A |
12: 8,778,779 (GRCm39) |
|
probably null |
Het |
| Racgap1 |
T |
C |
15: 99,524,210 (GRCm39) |
E399G |
probably damaging |
Het |
| Sbspon |
A |
T |
1: 15,930,519 (GRCm39) |
S156T |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,149,813 (GRCm39) |
T927A |
probably damaging |
Het |
| Sec23ip |
C |
A |
7: 128,354,520 (GRCm39) |
S78* |
probably null |
Het |
| Serpina1d |
G |
A |
12: 103,733,989 (GRCm39) |
T105I |
probably benign |
Het |
| Slc25a21 |
T |
A |
12: 57,205,954 (GRCm39) |
N26Y |
probably benign |
Het |
| Smim20 |
T |
A |
5: 53,435,258 (GRCm39) |
D64E |
probably damaging |
Het |
| Spag17 |
T |
G |
3: 99,942,291 (GRCm39) |
I772S |
possibly damaging |
Het |
| Tars2 |
T |
C |
3: 95,660,426 (GRCm39) |
T99A |
possibly damaging |
Het |
| Tdrd1 |
C |
T |
19: 56,819,803 (GRCm39) |
T101I |
probably damaging |
Het |
| Tldc2 |
T |
G |
2: 156,931,198 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,601,929 (GRCm39) |
Y10251H |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 187,995,342 (GRCm39) |
R38G |
possibly damaging |
Het |
| Usp19 |
T |
C |
9: 108,376,130 (GRCm39) |
L991P |
possibly damaging |
Het |
| Vmn2r109 |
G |
A |
17: 20,760,973 (GRCm39) |
P795S |
possibly damaging |
Het |
| Vmn2r26 |
T |
C |
6: 124,016,741 (GRCm39) |
Y402H |
probably benign |
Het |
| Vmn2r-ps117 |
T |
G |
17: 19,045,095 (GRCm39) |
I504R |
probably benign |
Het |
| Zfp551 |
A |
T |
7: 12,150,715 (GRCm39) |
C231* |
probably null |
Het |
| Zfp607a |
T |
A |
7: 27,577,790 (GRCm39) |
C287S |
possibly damaging |
Het |
| Zim1 |
T |
A |
7: 6,690,706 (GRCm39) |
T40S |
unknown |
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 |
|
|
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'- TACTATCAGGGAATAACGTGACG -3'
(R):5'- AACATGGGCACATTTACTGAGC -3'
Sequencing Primer
(F):5'- TGACGTTATAAATGCATTATGAGGGG -3'
(R):5'- TGGGCACATTTACTGAGCATACAC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation