Incidental Mutation 'R3411:Adgra1'
| ID |
267719 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adgra1
|
| Ensembl Gene |
ENSMUSG00000025475 |
| Gene Name |
adhesion G protein-coupled receptor A1 |
| Synonyms |
D7Ertd680e, Gpr123, 2900059M17Rik |
| MMRRC Submission |
040629-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R3411 (G1)
|
| Quality Score |
202 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
139414090-139458004 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 139427619 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 62
(F62S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026548
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026548]
|
| AlphaFold |
Q8C4G9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026548
AA Change: F62S
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000026548
Gene: ENSMUSG00000025475
AA Change: F62S
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137584
|
| Meta Mutation Damage Score |
0.4471 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.6%
|
| Validation Efficiency |
100% (62/62) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
A |
T |
12: 81,466,596 (GRCm39) |
V675D |
possibly damaging |
Het |
| Adamts16 |
T |
C |
13: 70,901,345 (GRCm39) |
T911A |
probably benign |
Het |
| Adgra3 |
A |
G |
5: 50,159,272 (GRCm39) |
V326A |
probably damaging |
Het |
| Aff1 |
T |
A |
5: 103,902,572 (GRCm39) |
M1K |
probably null |
Het |
| AI429214 |
C |
T |
8: 37,461,071 (GRCm39) |
S73L |
probably benign |
Het |
| Apc |
C |
A |
18: 34,402,312 (GRCm39) |
|
probably benign |
Het |
| Apcs |
T |
C |
1: 172,722,130 (GRCm39) |
Y72C |
probably damaging |
Het |
| Arid4a |
T |
C |
12: 71,108,299 (GRCm39) |
|
probably benign |
Het |
| Armcx4 |
C |
A |
X: 133,591,774 (GRCm39) |
Q561K |
probably benign |
Het |
| Atp5po |
C |
T |
16: 91,725,794 (GRCm39) |
R64H |
probably damaging |
Het |
| Bank1 |
G |
A |
3: 135,953,534 (GRCm39) |
|
probably benign |
Het |
| Ccdc150 |
A |
G |
1: 54,395,932 (GRCm39) |
D805G |
probably benign |
Het |
| Ccdc88a |
T |
A |
11: 29,436,006 (GRCm39) |
C10S |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 30,991,774 (GRCm39) |
M3076K |
possibly damaging |
Het |
| Dnpep |
A |
G |
1: 75,293,270 (GRCm39) |
V33A |
probably damaging |
Het |
| Egfem1 |
C |
T |
3: 29,637,170 (GRCm39) |
T202I |
probably damaging |
Het |
| Fam120b |
T |
A |
17: 15,651,897 (GRCm39) |
|
probably benign |
Het |
| Frem1 |
T |
C |
4: 82,881,416 (GRCm39) |
T1263A |
possibly damaging |
Het |
| Gm6802 |
C |
A |
12: 19,540,621 (GRCm39) |
|
noncoding transcript |
Het |
| Golga2 |
C |
A |
2: 32,192,954 (GRCm39) |
A424E |
probably damaging |
Het |
| Gpat2 |
G |
A |
2: 127,270,211 (GRCm39) |
V75M |
probably damaging |
Het |
| Grik5 |
T |
C |
7: 24,762,397 (GRCm39) |
D198G |
probably benign |
Het |
| Hcrtr2 |
A |
G |
9: 76,140,290 (GRCm39) |
F333L |
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Htr1b |
A |
C |
9: 81,514,094 (GRCm39) |
V171G |
probably benign |
Het |
| Kalrn |
G |
T |
16: 34,032,642 (GRCm39) |
D1117E |
probably benign |
Het |
| Kcp |
T |
C |
6: 29,482,845 (GRCm39) |
N1408S |
possibly damaging |
Het |
| Klhl7 |
G |
T |
5: 24,343,319 (GRCm39) |
V212L |
probably damaging |
Het |
| Klra17 |
T |
A |
6: 129,851,809 (GRCm39) |
N21I |
probably damaging |
Het |
| Lrrc8d |
A |
T |
5: 105,974,572 (GRCm39) |
|
noncoding transcript |
Het |
| Mast2 |
C |
G |
4: 116,168,107 (GRCm39) |
E881Q |
possibly damaging |
Het |
| Mcm6 |
T |
C |
1: 128,279,322 (GRCm39) |
T155A |
probably benign |
Het |
| Mslnl |
T |
C |
17: 25,963,491 (GRCm39) |
F326L |
probably benign |
Het |
| Nlrp4c |
A |
G |
7: 6,095,569 (GRCm39) |
K816E |
possibly damaging |
Het |
| Or10g1 |
T |
A |
14: 52,647,818 (GRCm39) |
R170S |
possibly damaging |
Het |
| Or5b101 |
G |
C |
19: 13,005,411 (GRCm39) |
A94G |
probably benign |
Het |
| Or5p69 |
A |
T |
7: 107,967,551 (GRCm39) |
I285F |
possibly damaging |
Het |
| Or8k3 |
T |
C |
2: 86,058,986 (GRCm39) |
S110G |
probably benign |
Het |
| Otoa |
A |
G |
7: 120,721,266 (GRCm39) |
Q427R |
probably damaging |
Het |
| Pcdhb6 |
A |
G |
18: 37,468,945 (GRCm39) |
E622G |
probably damaging |
Het |
| Pdzd8 |
A |
G |
19: 59,333,845 (GRCm39) |
Y59H |
probably damaging |
Het |
| Psmc3 |
A |
C |
2: 90,886,263 (GRCm39) |
D159A |
probably damaging |
Het |
| Ripk4 |
T |
C |
16: 97,545,157 (GRCm39) |
T497A |
probably benign |
Het |
| Rpn2 |
C |
A |
2: 157,132,572 (GRCm39) |
A108E |
possibly damaging |
Het |
| Serpina3n |
A |
G |
12: 104,377,536 (GRCm39) |
E263G |
possibly damaging |
Het |
| Six4 |
A |
G |
12: 73,159,657 (GRCm39) |
F101S |
probably damaging |
Het |
| Slc16a4 |
G |
A |
3: 107,208,188 (GRCm39) |
E233K |
probably benign |
Het |
| Smu1 |
T |
C |
4: 40,752,008 (GRCm39) |
T183A |
probably benign |
Het |
| Sptb |
T |
G |
12: 76,657,589 (GRCm39) |
K1311Q |
possibly damaging |
Het |
| Styxl1 |
T |
C |
5: 135,794,618 (GRCm39) |
Y83C |
probably damaging |
Het |
| Sypl2 |
C |
T |
3: 108,124,045 (GRCm39) |
V166I |
possibly damaging |
Het |
| Tal2 |
A |
G |
4: 53,785,843 (GRCm39) |
N8S |
probably damaging |
Het |
| Tenm4 |
T |
C |
7: 96,501,737 (GRCm39) |
Y1314H |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,772,749 (GRCm39) |
N2415K |
possibly damaging |
Het |
| Usp53 |
T |
C |
3: 122,743,507 (GRCm39) |
|
probably null |
Het |
| Vmn2r65 |
T |
C |
7: 84,595,896 (GRCm39) |
I263V |
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 |
|
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 |
|
R6453:Adgra1
|
UTSW |
7 |
139,455,343 (GRCm39) |
missense |
probably benign |
0.09 |
|
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'- ATGGTCTGCTCCTTCGGATG -3'
(R):5'- GTCACTATAGAAGCCTCAGTCTC -3'
Sequencing Primer
(F):5'- GCTCCTTCGGATGGGTTCC -3'
(R):5'- TATAGAAGCCTCAGTCTCCCCGG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation