Incidental Mutation 'R2299:Adgrg5'
| ID |
245267 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adgrg5
|
| Ensembl Gene |
ENSMUSG00000061577 |
| Gene Name |
adhesion G protein-coupled receptor G5 |
| Synonyms |
Gpr114, PGR27, LOC382045 |
| MMRRC Submission |
040298-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2299 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
95650322-95669908 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 95665204 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 372
(I372F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132628
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074570]
[ENSMUST00000128308]
[ENSMUST00000153448]
[ENSMUST00000166802]
|
| AlphaFold |
Q3V3Z3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074570
AA Change: I371F
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000074155
Gene: ENSMUSG00000061577
AA Change: I371F
| 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 |
probably benign
Transcript: ENSMUST00000128308
|
| SMART Domains |
Protein: ENSMUSP00000120217
Gene: ENSMUSG00000061577
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
91 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142991
|
| 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: I372F
PolyPhen 2
Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000132628
Gene: ENSMUSG00000061577
AA Change: I372F
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (37/37) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
A |
G |
3: 89,971,845 (GRCm39) |
N68S |
possibly damaging |
Het |
| 5031439G07Rik |
A |
C |
15: 84,837,486 (GRCm39) |
F276V |
possibly damaging |
Het |
| Abca12 |
C |
T |
1: 71,297,381 (GRCm39) |
V2370I |
probably damaging |
Het |
| Acsl3 |
T |
G |
1: 78,676,827 (GRCm39) |
C469W |
probably damaging |
Het |
| Ankrd42 |
A |
G |
7: 92,239,462 (GRCm39) |
I442T |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Bmpr1b |
C |
A |
3: 141,550,963 (GRCm39) |
R376L |
probably damaging |
Het |
| C1qtnf6 |
T |
A |
15: 78,409,542 (GRCm39) |
T102S |
probably benign |
Het |
| Chordc1 |
T |
C |
9: 18,213,404 (GRCm39) |
L85P |
probably damaging |
Het |
| Clec2j |
T |
A |
6: 128,632,199 (GRCm39) |
|
noncoding transcript |
Het |
| Copa |
T |
C |
1: 171,949,292 (GRCm39) |
I1223T |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cyfip2 |
T |
A |
11: 46,176,958 (GRCm39) |
E74V |
probably benign |
Het |
| Dsg1a |
A |
T |
18: 20,473,207 (GRCm39) |
D760V |
probably damaging |
Het |
| Folr1 |
A |
G |
7: 101,513,199 (GRCm39) |
L32P |
probably damaging |
Het |
| Galnt13 |
A |
T |
2: 54,950,595 (GRCm39) |
R425S |
possibly damaging |
Het |
| Gm4559 |
A |
T |
7: 141,827,572 (GRCm39) |
C177S |
unknown |
Het |
| H2bc9 |
A |
G |
13: 23,727,354 (GRCm39) |
S57P |
probably damaging |
Het |
| H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
| Kansl1l |
T |
C |
1: 66,812,636 (GRCm39) |
D459G |
probably damaging |
Het |
| Limd1 |
A |
T |
9: 123,345,942 (GRCm39) |
K574* |
probably null |
Het |
| Mmrn1 |
A |
G |
6: 60,953,425 (GRCm39) |
K569E |
probably damaging |
Het |
| Or51f1d |
T |
C |
7: 102,700,789 (GRCm39) |
W95R |
probably damaging |
Het |
| Ppp4r3c1 |
A |
G |
X: 88,976,005 (GRCm39) |
M64T |
possibly damaging |
Het |
| Ppwd1 |
T |
C |
13: 104,356,571 (GRCm39) |
M315V |
probably benign |
Het |
| Prss21 |
A |
G |
17: 24,088,563 (GRCm39) |
E176G |
probably benign |
Het |
| Ptpn23 |
A |
G |
9: 110,221,581 (GRCm39) |
I173T |
possibly damaging |
Het |
| Rit1 |
T |
A |
3: 88,633,377 (GRCm39) |
|
probably null |
Het |
| Rnf14 |
C |
T |
18: 38,441,138 (GRCm39) |
A176V |
probably benign |
Het |
| Sema5a |
T |
A |
15: 32,562,922 (GRCm39) |
V311E |
possibly damaging |
Het |
| Slc28a2 |
C |
T |
2: 122,272,259 (GRCm39) |
Q34* |
probably null |
Het |
| Spire1 |
A |
C |
18: 67,663,493 (GRCm39) |
L36R |
probably damaging |
Het |
| Usp33 |
T |
A |
3: 152,080,258 (GRCm39) |
V463E |
probably damaging |
Het |
| Vcpip1 |
A |
G |
1: 9,815,944 (GRCm39) |
L813S |
possibly damaging |
Het |
| Vmn1r174 |
A |
T |
7: 23,453,429 (GRCm39) |
I32F |
probably benign |
Het |
| Zbtb24 |
G |
A |
10: 41,340,577 (GRCm39) |
V536M |
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 |
|
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 |
|
R6810:Adgrg5
|
UTSW |
8 |
95,660,570 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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'- AGCCTCTTCTGAGACAAACGTC -3'
(R):5'- TGGCAGAACCCTGTGGAATC -3'
Sequencing Primer
(F):5'- TGAGACAAACGTCCTGACTCTGAG -3'
(R):5'- ACTTCACCATAGAGGACCTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation