Incidental Mutation 'R6816:Adgrg5'
| ID |
537338 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adgrg5
|
| Ensembl Gene |
ENSMUSG00000061577 |
| Gene Name |
adhesion G protein-coupled receptor G5 |
| Synonyms |
Gpr114, PGR27, LOC382045 |
| MMRRC Submission |
044928-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6816 (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 G
at 95668311 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 458
(T458A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074155
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074570]
[ENSMUST00000128308]
[ENSMUST00000166802]
|
| AlphaFold |
Q3V3Z3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074570
AA Change: T458A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000074155
Gene: ENSMUSG00000061577
AA Change: T458A
| 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 |
probably benign
Transcript: ENSMUST00000166802
AA Change: T459A
PolyPhen 2
Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000132628
Gene: ENSMUSG00000061577
AA Change: T459A
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
96% (49/51) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ajm1 |
C |
CTCTA |
2: 25,469,733 (GRCm39) |
|
probably null |
Het |
| Ankrd36 |
T |
G |
11: 5,593,765 (GRCm39) |
F457V |
possibly damaging |
Het |
| Cep152 |
T |
C |
2: 125,436,947 (GRCm39) |
E531G |
probably damaging |
Het |
| Dpf1 |
A |
C |
7: 29,011,087 (GRCm39) |
D162A |
possibly damaging |
Het |
| E2f8 |
A |
T |
7: 48,525,331 (GRCm39) |
Y214N |
possibly damaging |
Het |
| Fer1l5 |
A |
T |
1: 36,445,591 (GRCm39) |
Y786F |
possibly damaging |
Het |
| Fhod1 |
G |
T |
8: 106,057,176 (GRCm39) |
Q933K |
probably benign |
Het |
| Gdap2 |
T |
C |
3: 100,099,021 (GRCm39) |
|
probably null |
Het |
| Grin2d |
A |
G |
7: 45,483,106 (GRCm39) |
|
probably benign |
Het |
| H2bc22 |
C |
T |
13: 21,971,947 (GRCm39) |
S88L |
probably benign |
Het |
| Hgs |
T |
A |
11: 120,362,397 (GRCm39) |
V112D |
probably damaging |
Het |
| Igf2r |
A |
T |
17: 12,932,969 (GRCm39) |
V851E |
probably damaging |
Het |
| Igfn1 |
T |
A |
1: 135,887,466 (GRCm39) |
T2533S |
probably benign |
Het |
| Iqch |
C |
T |
9: 63,388,041 (GRCm39) |
V750I |
probably benign |
Het |
| Itih2 |
A |
G |
2: 10,110,517 (GRCm39) |
Y525H |
probably damaging |
Het |
| Kcnu1 |
C |
T |
8: 26,427,762 (GRCm39) |
Q360* |
probably null |
Het |
| Klk1b26 |
A |
G |
7: 43,666,292 (GRCm39) |
N245S |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,610,530 (GRCm39) |
|
probably null |
Het |
| Lhpp |
T |
C |
7: 132,235,762 (GRCm39) |
S116P |
probably benign |
Het |
| Madcam1 |
A |
G |
10: 79,501,274 (GRCm39) |
D113G |
probably damaging |
Het |
| Magi3 |
A |
T |
3: 103,997,227 (GRCm39) |
|
probably null |
Het |
| Map3k9 |
A |
G |
12: 81,769,028 (GRCm39) |
S1007P |
possibly damaging |
Het |
| Mkrn2 |
C |
T |
6: 115,588,689 (GRCm39) |
P144L |
probably damaging |
Het |
| Mon1a |
T |
C |
9: 107,777,609 (GRCm39) |
S171P |
probably damaging |
Het |
| Nrarp |
T |
C |
2: 25,071,319 (GRCm39) |
L66P |
probably damaging |
Het |
| P2ry1 |
T |
A |
3: 60,911,253 (GRCm39) |
F131I |
probably benign |
Het |
| Pdzk1 |
A |
G |
3: 96,761,886 (GRCm39) |
Q166R |
probably benign |
Het |
| Pigt |
G |
T |
2: 164,343,052 (GRCm39) |
V249F |
probably damaging |
Het |
| Ppp1r16b |
G |
T |
2: 158,603,595 (GRCm39) |
V407L |
probably benign |
Het |
| Pramel58 |
A |
T |
5: 94,831,773 (GRCm39) |
Q260L |
possibly damaging |
Het |
| Rab6a |
G |
T |
7: 100,279,080 (GRCm39) |
E73D |
probably damaging |
Het |
| Ralb |
C |
A |
1: 119,405,712 (GRCm39) |
G33* |
probably null |
Het |
| Sema3b |
T |
A |
9: 107,477,549 (GRCm39) |
M491L |
probably benign |
Het |
| Sema3c |
A |
C |
5: 17,875,463 (GRCm39) |
D40A |
probably benign |
Het |
| Slc22a1 |
T |
C |
17: 12,871,370 (GRCm39) |
N464D |
possibly damaging |
Het |
| Spire2 |
T |
A |
8: 124,086,152 (GRCm39) |
S295T |
probably benign |
Het |
| Stat3 |
T |
G |
11: 100,802,093 (GRCm39) |
Q32P |
probably damaging |
Het |
| Sulf2 |
T |
C |
2: 165,924,674 (GRCm39) |
T471A |
probably benign |
Het |
| Sult2b1 |
A |
G |
7: 45,383,102 (GRCm39) |
W227R |
probably damaging |
Het |
| Syt2 |
T |
A |
1: 134,673,538 (GRCm39) |
I294N |
probably damaging |
Het |
| Taar8b |
A |
T |
10: 23,968,079 (GRCm39) |
F38L |
probably benign |
Het |
| Tbl2 |
T |
A |
5: 135,188,069 (GRCm39) |
|
probably null |
Het |
| Tex48 |
G |
A |
4: 63,530,192 (GRCm39) |
S9L |
probably damaging |
Het |
| Tmprss2 |
A |
T |
16: 97,369,667 (GRCm39) |
M369K |
possibly damaging |
Het |
| Trip12 |
A |
T |
1: 84,771,435 (GRCm39) |
S280T |
probably damaging |
Het |
| Tspoap1 |
T |
C |
11: 87,656,491 (GRCm39) |
V263A |
probably benign |
Het |
| Vmn2r74 |
T |
A |
7: 85,610,621 (GRCm39) |
R24* |
probably null |
Het |
| Wdr35 |
G |
A |
12: 9,077,724 (GRCm39) |
|
probably null |
Het |
| Zfp202 |
A |
G |
9: 40,123,109 (GRCm39) |
R624G |
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 |
|
R6810:Adgrg5
|
UTSW |
8 |
95,660,570 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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'- TGGATCCGAAGTCCCATGGTAC -3'
(R):5'- TCTTCTAGGTAAATGTGCCCCTAG -3'
Sequencing Primer
(F):5'- TGGTACACAGCATCCTGGTCATG -3'
(R):5'- TAGGTAAATGTGCCCCTAGACCAG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation