Incidental Mutation 'R6810:Adgrg5'
| ID |
533762 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adgrg5
|
| Ensembl Gene |
ENSMUSG00000061577 |
| Gene Name |
adhesion G protein-coupled receptor G5 |
| Synonyms |
Gpr114, PGR27, LOC382045 |
| MMRRC Submission |
044923-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6810 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
95650322-95669908 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 95660570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 70
(T70S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074155
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074570]
[ENSMUST00000128308]
[ENSMUST00000153448]
[ENSMUST00000166802]
|
| AlphaFold |
Q3V3Z3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074570
AA Change: T70S
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000074155
Gene: ENSMUSG00000061577
AA Change: T70S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
95 |
N/A |
INTRINSIC |
|
GPS
|
181 |
234 |
4.7e-13 |
SMART |
|
Pfam:7tm_2
|
240 |
494 |
2.1e-36 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000128308
AA Change: T66S
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000120217
Gene: ENSMUSG00000061577
AA Change: T66S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
91 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153448
|
| SMART Domains |
Protein: ENSMUSP00000122780
Gene: ENSMUSG00000061577
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166802
AA Change: T70S
PolyPhen 2
Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000132628
Gene: ENSMUSG00000061577
AA Change: T70S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
95 |
N/A |
INTRINSIC |
|
GPS
|
181 |
234 |
1.37e-14 |
SMART |
|
Pfam:7tm_2
|
241 |
495 |
1.3e-36 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.8%
- 20x: 96.7%
|
| Validation Efficiency |
96% (53/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the adhesion family of G-protein coupled receptors. Members of this family are characterized by long N-termini and multiple functional domains. They may play a role in the immune system as well as in the central nervous system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adora1 |
T |
C |
1: 134,161,777 (GRCm39) |
Y106C |
probably damaging |
Het |
| Aox3 |
T |
A |
1: 58,180,590 (GRCm39) |
N250K |
probably benign |
Het |
| Ap2b1 |
A |
T |
11: 83,226,317 (GRCm39) |
Y238F |
possibly damaging |
Het |
| Birc6 |
G |
A |
17: 74,919,215 (GRCm39) |
S2015N |
possibly damaging |
Het |
| C7 |
A |
G |
15: 5,037,136 (GRCm39) |
F581L |
probably damaging |
Het |
| Cd27 |
A |
T |
6: 125,210,627 (GRCm39) |
H203Q |
probably damaging |
Het |
| Cdk2 |
A |
G |
10: 128,535,456 (GRCm39) |
V274A |
probably benign |
Het |
| Cenpe |
A |
G |
3: 134,949,583 (GRCm39) |
T1351A |
probably benign |
Het |
| Chd7 |
T |
C |
4: 8,839,523 (GRCm39) |
L1353P |
probably damaging |
Het |
| Dcc |
C |
T |
18: 71,503,764 (GRCm39) |
V945M |
probably damaging |
Het |
| Dio1 |
A |
G |
4: 107,154,922 (GRCm39) |
V118A |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,251,379 (GRCm39) |
T1818M |
probably damaging |
Het |
| Dthd1 |
T |
A |
5: 62,971,672 (GRCm39) |
M165K |
probably benign |
Het |
| Eif5b |
A |
G |
1: 38,085,741 (GRCm39) |
I929V |
probably benign |
Het |
| F5 |
T |
A |
1: 164,014,471 (GRCm39) |
S581T |
probably damaging |
Het |
| Fanca |
A |
C |
8: 124,013,216 (GRCm39) |
I761S |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,173,067 (GRCm39) |
T2549A |
possibly damaging |
Het |
| Fut2 |
A |
G |
7: 45,299,929 (GRCm39) |
L281P |
probably damaging |
Het |
| Gm19410 |
C |
A |
8: 36,239,733 (GRCm39) |
A143E |
probably damaging |
Het |
| Gm5431 |
T |
C |
11: 48,779,803 (GRCm39) |
D651G |
probably damaging |
Het |
| Hook3 |
A |
C |
8: 26,522,450 (GRCm39) |
|
probably null |
Het |
| Ivd |
G |
T |
2: 118,700,242 (GRCm39) |
V90L |
probably benign |
Het |
| Klhdc7b |
A |
G |
15: 89,272,559 (GRCm39) |
Y1147C |
possibly damaging |
Het |
| Mlh1 |
G |
A |
9: 111,070,626 (GRCm39) |
T363M |
possibly damaging |
Het |
| Ndufa3 |
A |
T |
7: 3,622,476 (GRCm39) |
I45F |
probably damaging |
Het |
| Nell2 |
T |
C |
15: 95,139,468 (GRCm39) |
D588G |
probably damaging |
Het |
| Nhlrc3 |
T |
C |
3: 53,360,996 (GRCm39) |
N253S |
probably benign |
Het |
| Nlrp4c |
T |
A |
7: 6,069,754 (GRCm39) |
F552I |
probably damaging |
Het |
| Or51g1 |
A |
C |
7: 102,634,042 (GRCm39) |
S110A |
probably damaging |
Het |
| Or5j3 |
G |
A |
2: 86,128,267 (GRCm39) |
A36T |
probably benign |
Het |
| Pcdhga12 |
T |
C |
18: 37,900,232 (GRCm39) |
S355P |
probably benign |
Het |
| Pcdhga7 |
A |
T |
18: 37,848,926 (GRCm39) |
Y311F |
probably benign |
Het |
| Phldb2 |
A |
G |
16: 45,569,088 (GRCm39) |
|
probably null |
Het |
| Plscr4 |
G |
A |
9: 92,365,889 (GRCm39) |
V120I |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,287,457 (GRCm39) |
V480A |
probably benign |
Het |
| Psrc1 |
A |
T |
3: 108,292,664 (GRCm39) |
K152N |
possibly damaging |
Het |
| Ptcd3 |
A |
C |
6: 71,862,516 (GRCm39) |
V473G |
probably damaging |
Het |
| Rab11fip1 |
ACTCT |
ACT |
8: 27,642,760 (GRCm39) |
|
probably null |
Het |
| Semp2l2b |
C |
T |
10: 21,942,616 (GRCm39) |
G455R |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 112,805,577 (GRCm39) |
|
probably null |
Het |
| Slc24a1 |
A |
G |
9: 64,855,605 (GRCm39) |
V434A |
probably benign |
Het |
| Snd1 |
T |
A |
6: 28,668,609 (GRCm39) |
V432E |
probably benign |
Het |
| Syne2 |
C |
T |
12: 75,989,659 (GRCm39) |
T1847M |
probably benign |
Het |
| Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
| Tes |
C |
A |
6: 17,104,651 (GRCm39) |
N377K |
probably benign |
Het |
| Tfip11 |
T |
A |
5: 112,481,463 (GRCm39) |
I452N |
probably benign |
Het |
| Tgfbi |
T |
C |
13: 56,785,016 (GRCm39) |
S658P |
probably benign |
Het |
| Tmx4 |
A |
C |
2: 134,462,594 (GRCm39) |
D112E |
probably damaging |
Het |
| Tnn |
G |
T |
1: 159,932,412 (GRCm39) |
D1367E |
probably damaging |
Het |
| Triobp |
A |
G |
15: 78,850,815 (GRCm39) |
N323S |
possibly damaging |
Het |
| Usp40 |
T |
C |
1: 87,908,755 (GRCm39) |
D582G |
probably benign |
Het |
| Vmn2r99 |
A |
G |
17: 19,600,296 (GRCm39) |
K440R |
probably benign |
Het |
| Zfp707 |
T |
A |
15: 75,846,748 (GRCm39) |
L193Q |
probably damaging |
Het |
| Zfp748 |
T |
C |
13: 67,689,844 (GRCm39) |
Y472C |
probably damaging |
Het |
|
| Other mutations in Adgrg5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01340:Adgrg5
|
APN |
8 |
95,664,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02617:Adgrg5
|
APN |
8 |
95,660,610 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0483:Adgrg5
|
UTSW |
8 |
95,660,136 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0539:Adgrg5
|
UTSW |
8 |
95,665,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0580:Adgrg5
|
UTSW |
8 |
95,663,972 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0650:Adgrg5
|
UTSW |
8 |
95,660,785 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0652:Adgrg5
|
UTSW |
8 |
95,660,785 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0828:Adgrg5
|
UTSW |
8 |
95,668,413 (GRCm39) |
splice site |
probably null |
|
|
R1546:Adgrg5
|
UTSW |
8 |
95,668,258 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1567:Adgrg5
|
UTSW |
8 |
95,664,326 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1695:Adgrg5
|
UTSW |
8 |
95,664,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1753:Adgrg5
|
UTSW |
8 |
95,668,680 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1852:Adgrg5
|
UTSW |
8 |
95,664,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2018:Adgrg5
|
UTSW |
8 |
95,661,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2051:Adgrg5
|
UTSW |
8 |
95,668,695 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2190:Adgrg5
|
UTSW |
8 |
95,660,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2299:Adgrg5
|
UTSW |
8 |
95,665,204 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2568:Adgrg5
|
UTSW |
8 |
95,660,649 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4283:Adgrg5
|
UTSW |
8 |
95,664,326 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4512:Adgrg5
|
UTSW |
8 |
95,660,652 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4825:Adgrg5
|
UTSW |
8 |
95,668,362 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5422:Adgrg5
|
UTSW |
8 |
95,660,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5427:Adgrg5
|
UTSW |
8 |
95,661,730 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6186:Adgrg5
|
UTSW |
8 |
95,660,652 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6522:Adgrg5
|
UTSW |
8 |
95,668,696 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6608:Adgrg5
|
UTSW |
8 |
95,668,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6816:Adgrg5
|
UTSW |
8 |
95,668,311 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7214:Adgrg5
|
UTSW |
8 |
95,660,646 (GRCm39) |
missense |
|
|
|
R7686:Adgrg5
|
UTSW |
8 |
95,664,430 (GRCm39) |
missense |
|
|
|
R7955:Adgrg5
|
UTSW |
8 |
95,664,325 (GRCm39) |
missense |
|
|
|
R9383:Adgrg5
|
UTSW |
8 |
95,661,162 (GRCm39) |
missense |
|
|
|
R9653:Adgrg5
|
UTSW |
8 |
95,663,864 (GRCm39) |
missense |
|
|
|
R9729:Adgrg5
|
UTSW |
8 |
95,668,133 (GRCm39) |
missense |
|
|
|
X0027:Adgrg5
|
UTSW |
8 |
95,663,966 (GRCm39) |
missense |
probably benign |
0.07 |
|
Z1176:Adgrg5
|
UTSW |
8 |
95,661,779 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAGGCTCTAAGACTTGCGTGG -3'
(R):5'- GAGAGGCCATAGAGCACTTC -3'
Sequencing Primer
(F):5'- CTCTAAGACTTGCGTGGGGGAC -3'
(R):5'- GAGGCCATAGAGCACTTCCTCTTTC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation