Incidental Mutation 'R6453:Adgra1'
| ID |
520113 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adgra1
|
| Ensembl Gene |
ENSMUSG00000025475 |
| Gene Name |
adhesion G protein-coupled receptor A1 |
| Synonyms |
D7Ertd680e, Gpr123, 2900059M17Rik |
| MMRRC Submission |
044589-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R6453 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
139414090-139458004 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 139455343 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 324
(S324T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026548
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026548]
|
| AlphaFold |
Q8C4G9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026548
AA Change: S324T
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000026548
Gene: ENSMUSG00000025475
AA Change: S324T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_2
|
19 |
307 |
1.4e-16 |
PFAM |
|
low complexity region
|
407 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
423 |
434 |
N/A |
INTRINSIC |
|
low complexity region
|
469 |
481 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.6%
- 20x: 92.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the adhesion family of G-protein-coupled receptors. Members of this family function in several sensory systems and regulate blood pressure, immune responses, food intake and development. A similar protein in rodents is thought to play a role in in the regulation of neuronal signaling pathways. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Mar 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300002M23Rik |
C |
T |
17: 35,879,109 (GRCm39) |
S149L |
possibly damaging |
Het |
| A830018L16Rik |
A |
T |
1: 11,868,782 (GRCm39) |
D354V |
possibly damaging |
Het |
| Acta2 |
G |
A |
19: 34,224,057 (GRCm39) |
T150I |
probably damaging |
Het |
| Ankrd44 |
A |
T |
1: 54,696,863 (GRCm39) |
|
probably null |
Het |
| B430306N03Rik |
T |
A |
17: 48,623,764 (GRCm39) |
W22R |
probably damaging |
Het |
| Ccdc162 |
A |
T |
10: 41,426,821 (GRCm39) |
V2024E |
probably damaging |
Het |
| Cers6 |
C |
T |
2: 68,877,513 (GRCm39) |
H164Y |
probably benign |
Het |
| Chd3 |
T |
A |
11: 69,240,938 (GRCm39) |
K1458* |
probably null |
Het |
| Cimip1 |
A |
G |
2: 173,370,052 (GRCm39) |
Y109C |
probably benign |
Het |
| Col3a1 |
G |
A |
1: 45,378,538 (GRCm39) |
|
probably benign |
Het |
| Cyb5d2 |
T |
G |
11: 72,673,586 (GRCm39) |
T3P |
probably benign |
Het |
| Dennd1b |
A |
G |
1: 139,071,686 (GRCm39) |
Y468C |
probably benign |
Het |
| Dnajc14 |
A |
G |
10: 128,643,359 (GRCm39) |
E427G |
probably damaging |
Het |
| Exoc7 |
T |
C |
11: 116,184,795 (GRCm39) |
|
probably null |
Het |
| Fat2 |
A |
G |
11: 55,173,042 (GRCm39) |
I2557T |
probably benign |
Het |
| Flt1 |
T |
C |
5: 147,620,751 (GRCm39) |
D131G |
possibly damaging |
Het |
| Frem1 |
G |
T |
4: 82,833,062 (GRCm39) |
S1858* |
probably null |
Het |
| Garem1 |
T |
A |
18: 21,281,796 (GRCm39) |
I187F |
probably damaging |
Het |
| Gldc |
A |
T |
19: 30,093,917 (GRCm39) |
I700N |
probably damaging |
Het |
| Gpatch4 |
A |
G |
3: 87,962,312 (GRCm39) |
E175G |
probably damaging |
Het |
| Gria2 |
A |
G |
3: 80,648,281 (GRCm39) |
Y152H |
possibly damaging |
Het |
| H2-Q2 |
C |
T |
17: 35,563,871 (GRCm39) |
L251F |
probably benign |
Het |
| Hectd4 |
G |
A |
5: 121,488,655 (GRCm39) |
G3649R |
probably damaging |
Het |
| Hormad1 |
A |
G |
3: 95,485,568 (GRCm39) |
E252G |
probably benign |
Het |
| Kif14 |
A |
G |
1: 136,410,042 (GRCm39) |
|
probably null |
Het |
| Lmcd1 |
A |
G |
6: 112,292,789 (GRCm39) |
T214A |
probably benign |
Het |
| Macrod2 |
A |
G |
2: 142,018,545 (GRCm39) |
E226G |
probably damaging |
Het |
| Mcm4 |
A |
T |
16: 15,448,273 (GRCm39) |
L428Q |
probably damaging |
Het |
| Msh6 |
T |
A |
17: 88,293,167 (GRCm39) |
Y641N |
probably damaging |
Het |
| Myo7a |
C |
T |
7: 97,722,374 (GRCm39) |
V1184M |
probably benign |
Het |
| Nipa2 |
A |
T |
7: 55,585,569 (GRCm39) |
M142K |
probably damaging |
Het |
| Or8b1c |
T |
C |
9: 38,384,871 (GRCm39) |
I276T |
probably benign |
Het |
| Parvg |
A |
T |
15: 84,213,126 (GRCm39) |
E122V |
probably null |
Het |
| Pclo |
T |
A |
5: 14,726,803 (GRCm39) |
|
probably benign |
Het |
| Pik3cd |
A |
G |
4: 149,736,759 (GRCm39) |
V933A |
probably damaging |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Qpctl |
C |
T |
7: 18,875,222 (GRCm39) |
V337I |
probably damaging |
Het |
| Qrfprl |
G |
A |
6: 65,430,014 (GRCm39) |
G237S |
possibly damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,785,104 (GRCm39) |
W719R |
probably damaging |
Het |
| Rangrf |
A |
G |
11: 68,864,378 (GRCm39) |
L28P |
probably damaging |
Het |
| Rbbp9 |
G |
T |
2: 144,391,054 (GRCm39) |
Q38K |
probably benign |
Het |
| Rnf169 |
C |
T |
7: 99,584,434 (GRCm39) |
M246I |
probably benign |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,124 (GRCm39) |
|
probably benign |
Het |
| Sdk1 |
A |
G |
5: 142,082,676 (GRCm39) |
D1098G |
probably damaging |
Het |
| Sgsm3 |
T |
A |
15: 80,895,515 (GRCm39) |
S689T |
probably damaging |
Het |
| Slc13a3 |
C |
T |
2: 165,253,867 (GRCm39) |
V429M |
possibly damaging |
Het |
| Slc30a5 |
A |
T |
13: 100,951,197 (GRCm39) |
D228E |
probably benign |
Het |
| Slc46a3 |
A |
G |
5: 147,823,200 (GRCm39) |
I214T |
possibly damaging |
Het |
| Slc7a15 |
T |
C |
12: 8,584,490 (GRCm39) |
M347V |
possibly damaging |
Het |
| Slc9a2 |
A |
T |
1: 40,781,781 (GRCm39) |
I337F |
possibly damaging |
Het |
| Sostdc1 |
C |
A |
12: 36,364,407 (GRCm39) |
P39T |
probably benign |
Het |
| Speg |
A |
G |
1: 75,394,616 (GRCm39) |
N1775S |
probably benign |
Het |
| Spg7 |
A |
G |
8: 123,806,162 (GRCm39) |
K291E |
possibly damaging |
Het |
| Sptbn2 |
A |
T |
19: 4,794,208 (GRCm39) |
R1471W |
possibly damaging |
Het |
| Thada |
T |
C |
17: 84,723,751 (GRCm39) |
E1101G |
probably damaging |
Het |
| Trpm6 |
G |
A |
19: 18,807,354 (GRCm39) |
A1033T |
probably damaging |
Het |
| Ttll6 |
G |
A |
11: 96,049,553 (GRCm39) |
R757H |
probably benign |
Het |
|
| Other mutations in Adgra1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00484:Adgra1
|
APN |
7 |
139,455,860 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01014:Adgra1
|
APN |
7 |
139,455,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01014:Adgra1
|
APN |
7 |
139,455,576 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01068:Adgra1
|
APN |
7 |
139,425,541 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01095:Adgra1
|
APN |
7 |
139,425,570 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02717:Adgra1
|
APN |
7 |
139,456,094 (GRCm39) |
missense |
probably damaging |
0.98 |
|
adaga
|
UTSW |
7 |
139,455,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
I2288:Adgra1
|
UTSW |
7 |
139,432,495 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0630:Adgra1
|
UTSW |
7 |
139,432,500 (GRCm39) |
nonsense |
probably null |
|
|
R0653:Adgra1
|
UTSW |
7 |
139,456,063 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1388:Adgra1
|
UTSW |
7 |
139,453,919 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1462:Adgra1
|
UTSW |
7 |
139,455,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Adgra1
|
UTSW |
7 |
139,455,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1667:Adgra1
|
UTSW |
7 |
139,425,564 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1770:Adgra1
|
UTSW |
7 |
139,453,947 (GRCm39) |
nonsense |
probably null |
|
|
R2083:Adgra1
|
UTSW |
7 |
139,455,547 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2967:Adgra1
|
UTSW |
7 |
139,455,601 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R3410:Adgra1
|
UTSW |
7 |
139,427,619 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3411:Adgra1
|
UTSW |
7 |
139,427,619 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3687:Adgra1
|
UTSW |
7 |
139,432,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3804:Adgra1
|
UTSW |
7 |
139,425,510 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3912:Adgra1
|
UTSW |
7 |
139,425,630 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4452:Adgra1
|
UTSW |
7 |
139,432,437 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4466:Adgra1
|
UTSW |
7 |
139,420,752 (GRCm39) |
intron |
probably benign |
|
|
R4469:Adgra1
|
UTSW |
7 |
139,455,977 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4675:Adgra1
|
UTSW |
7 |
139,456,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4724:Adgra1
|
UTSW |
7 |
139,455,505 (GRCm39) |
missense |
probably benign |
|
|
R5220:Adgra1
|
UTSW |
7 |
139,455,512 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5846:Adgra1
|
UTSW |
7 |
139,455,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5972:Adgra1
|
UTSW |
7 |
139,425,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7242:Adgra1
|
UTSW |
7 |
139,427,573 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7343:Adgra1
|
UTSW |
7 |
139,456,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7774:Adgra1
|
UTSW |
7 |
139,427,628 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8190:Adgra1
|
UTSW |
7 |
139,456,034 (GRCm39) |
missense |
probably benign |
|
|
R8355:Adgra1
|
UTSW |
7 |
139,455,567 (GRCm39) |
nonsense |
probably null |
|
|
R8455:Adgra1
|
UTSW |
7 |
139,455,567 (GRCm39) |
nonsense |
probably null |
|
|
R8905:Adgra1
|
UTSW |
7 |
139,455,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9045:Adgra1
|
UTSW |
7 |
139,432,566 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9056:Adgra1
|
UTSW |
7 |
139,432,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9183:Adgra1
|
UTSW |
7 |
139,455,716 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9438:Adgra1
|
UTSW |
7 |
139,432,525 (GRCm39) |
missense |
probably benign |
0.00 |
|
V1662:Adgra1
|
UTSW |
7 |
139,432,495 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAAGGCTCAGCTTCGTGC -3'
(R):5'- TGACAGACAGCTGACATGG -3'
Sequencing Primer
(F):5'- GCCGCTGCCTTCACACTG -3'
(R):5'- AGACAGCTGACATGGCCCTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation