Incidental Mutation 'R6148:Vmn2r52'
| ID |
489017 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r52
|
| Ensembl Gene |
ENSMUSG00000091930 |
| Gene Name |
vomeronasal 2, receptor 52 |
| Synonyms |
EG384534 |
| MMRRC Submission |
044295-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R6148 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
9892579-9910213 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 9905090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 250
(I250V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129352
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164918]
|
| AlphaFold |
L7N2B2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164918
AA Change: I250V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000129352
Gene: ENSMUSG00000091930
AA Change: I250V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
73 |
469 |
8.1e-29 |
PFAM |
|
Pfam:NCD3G
|
512 |
565 |
1.5e-19 |
PFAM |
|
Pfam:7tm_3
|
596 |
833 |
1.1e-55 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
| Validation Efficiency |
95% (61/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
A |
12: 71,234,200 (GRCm39) |
C1067S |
possibly damaging |
Het |
| AAdacl4fm3 |
T |
C |
4: 144,447,887 (GRCm39) |
T30A |
possibly damaging |
Het |
| Agbl3 |
T |
A |
6: 34,834,688 (GRCm39) |
S952R |
possibly damaging |
Het |
| Ano9 |
A |
G |
7: 140,686,698 (GRCm39) |
Y429H |
probably damaging |
Het |
| Bbs7 |
C |
A |
3: 36,667,415 (GRCm39) |
R7L |
probably damaging |
Het |
| Birc2 |
T |
A |
9: 7,849,684 (GRCm39) |
D535V |
possibly damaging |
Het |
| Catsper4 |
A |
G |
4: 133,945,240 (GRCm39) |
V206A |
probably damaging |
Het |
| Ccdc73 |
T |
G |
2: 104,822,482 (GRCm39) |
S810R |
possibly damaging |
Het |
| Cd177 |
A |
T |
7: 24,443,698 (GRCm39) |
L800* |
probably null |
Het |
| Cd34 |
T |
C |
1: 194,630,316 (GRCm39) |
|
probably null |
Het |
| Cep78 |
G |
A |
19: 15,959,150 (GRCm39) |
R95* |
probably null |
Het |
| Cfap69 |
T |
C |
5: 5,713,996 (GRCm39) |
D12G |
probably benign |
Het |
| Cpne7 |
A |
G |
8: 123,854,171 (GRCm39) |
D286G |
probably benign |
Het |
| Cwc22 |
ATCTCTCTCTCTCTCTCT |
ATCTCTCTCTCTCTCT |
2: 77,759,803 (GRCm39) |
|
probably null |
Het |
| Cxcl5 |
A |
T |
5: 90,907,565 (GRCm39) |
I46L |
probably benign |
Het |
| Cyp19a1 |
C |
T |
9: 54,087,540 (GRCm39) |
G59D |
probably damaging |
Het |
| Dclre1c |
A |
G |
2: 3,438,742 (GRCm39) |
D35G |
probably damaging |
Het |
| Defa41 |
A |
G |
8: 21,692,428 (GRCm39) |
N83S |
probably benign |
Het |
| Dvl1 |
A |
G |
4: 155,939,409 (GRCm39) |
Y279C |
probably damaging |
Het |
| Fes |
A |
G |
7: 80,030,044 (GRCm39) |
L578P |
probably damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Fmn2 |
T |
C |
1: 174,494,229 (GRCm39) |
S1248P |
probably damaging |
Het |
| Fmo1 |
T |
G |
1: 162,679,088 (GRCm39) |
S53R |
probably damaging |
Het |
| Gabrg1 |
A |
T |
5: 70,931,804 (GRCm39) |
M313K |
probably damaging |
Het |
| Galnt10 |
T |
C |
11: 57,675,474 (GRCm39) |
C578R |
probably damaging |
Het |
| Gpr39 |
T |
C |
1: 125,800,323 (GRCm39) |
V358A |
probably damaging |
Het |
| Gsap |
A |
G |
5: 21,431,323 (GRCm39) |
R216G |
probably damaging |
Het |
| Gsap |
A |
T |
5: 21,475,575 (GRCm39) |
T570S |
probably benign |
Het |
| Gucy2d |
A |
T |
7: 98,093,030 (GRCm39) |
I136L |
probably benign |
Het |
| Hap1 |
A |
T |
11: 100,240,218 (GRCm39) |
V294E |
probably damaging |
Het |
| Ipo8 |
A |
G |
6: 148,701,278 (GRCm39) |
V514A |
probably damaging |
Het |
| Irf5 |
T |
C |
6: 29,535,958 (GRCm39) |
L324P |
probably damaging |
Het |
| Itsn1 |
C |
T |
16: 91,613,740 (GRCm39) |
R251C |
probably damaging |
Het |
| Klf11 |
T |
C |
12: 24,701,567 (GRCm39) |
|
probably null |
Het |
| Kpna6 |
G |
A |
4: 129,543,099 (GRCm39) |
Q439* |
probably null |
Het |
| Mark4 |
A |
T |
7: 19,163,441 (GRCm39) |
S563T |
probably benign |
Het |
| Mrpl21 |
A |
T |
19: 3,333,084 (GRCm39) |
I5L |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,753,802 (GRCm38) |
I1226T |
probably benign |
Het |
| Myrf |
G |
A |
19: 10,189,839 (GRCm39) |
T815I |
probably damaging |
Het |
| Olfr515-ps1 |
A |
T |
7: 108,444,178 (GRCm39) |
|
probably null |
Het |
| Or10d4c |
G |
T |
9: 39,558,555 (GRCm39) |
D178Y |
probably damaging |
Het |
| Or11g27 |
A |
G |
14: 50,771,778 (GRCm39) |
N303S |
probably benign |
Het |
| Or4c15 |
C |
T |
2: 88,760,597 (GRCm39) |
V21I |
probably benign |
Het |
| Or52n3 |
A |
G |
7: 104,530,289 (GRCm39) |
Y125C |
possibly damaging |
Het |
| Os9 |
T |
C |
10: 126,935,812 (GRCm39) |
D280G |
probably benign |
Het |
| Pcdhb14 |
A |
G |
18: 37,582,283 (GRCm39) |
N463S |
probably damaging |
Het |
| Pex19 |
G |
A |
1: 171,961,606 (GRCm39) |
E271K |
probably damaging |
Het |
| Ppdpf |
G |
A |
2: 180,829,641 (GRCm39) |
S32N |
probably benign |
Het |
| Prdm2 |
A |
G |
4: 142,859,477 (GRCm39) |
I1271T |
probably benign |
Het |
| Rbbp4 |
T |
C |
4: 129,215,751 (GRCm39) |
T262A |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Spaca9 |
G |
A |
2: 28,583,793 (GRCm39) |
R64W |
probably damaging |
Het |
| Sult1e1 |
A |
T |
5: 87,727,770 (GRCm39) |
S171T |
probably damaging |
Het |
| Tns1 |
T |
C |
1: 73,992,612 (GRCm39) |
T689A |
probably damaging |
Het |
| Unc13c |
G |
C |
9: 73,600,648 (GRCm39) |
N1365K |
probably benign |
Het |
| Vmn2r55 |
C |
A |
7: 12,402,069 (GRCm39) |
L406F |
probably benign |
Het |
| Wdcp |
T |
C |
12: 4,900,621 (GRCm39) |
V159A |
possibly damaging |
Het |
| Zbtb3 |
C |
T |
19: 8,781,560 (GRCm39) |
A391V |
probably benign |
Het |
| Znhit1 |
A |
T |
5: 137,011,487 (GRCm39) |
S109T |
probably benign |
Het |
|
| Other mutations in Vmn2r52 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Vmn2r52
|
APN |
7 |
9,903,023 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL00328:Vmn2r52
|
APN |
7 |
9,905,344 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL00980:Vmn2r52
|
APN |
7 |
9,905,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01468:Vmn2r52
|
APN |
7 |
9,892,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01660:Vmn2r52
|
APN |
7 |
9,893,107 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02215:Vmn2r52
|
APN |
7 |
9,905,029 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03030:Vmn2r52
|
APN |
7 |
9,892,799 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL03212:Vmn2r52
|
APN |
7 |
9,893,474 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
FR4589:Vmn2r52
|
UTSW |
7 |
9,892,947 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4283001:Vmn2r52
|
UTSW |
7 |
9,904,756 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0184:Vmn2r52
|
UTSW |
7 |
9,893,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0190:Vmn2r52
|
UTSW |
7 |
9,905,315 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0240:Vmn2r52
|
UTSW |
7 |
9,893,327 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0240:Vmn2r52
|
UTSW |
7 |
9,893,327 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0257:Vmn2r52
|
UTSW |
7 |
9,904,982 (GRCm39) |
nonsense |
probably null |
|
|
R0310:Vmn2r52
|
UTSW |
7 |
9,893,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1831:Vmn2r52
|
UTSW |
7 |
9,893,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1862:Vmn2r52
|
UTSW |
7 |
9,907,333 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2484:Vmn2r52
|
UTSW |
7 |
9,903,058 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2510:Vmn2r52
|
UTSW |
7 |
9,904,795 (GRCm39) |
missense |
probably benign |
|
|
R3625:Vmn2r52
|
UTSW |
7 |
9,893,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3803:Vmn2r52
|
UTSW |
7 |
9,907,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4013:Vmn2r52
|
UTSW |
7 |
9,904,603 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4283:Vmn2r52
|
UTSW |
7 |
9,904,565 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4324:Vmn2r52
|
UTSW |
7 |
9,904,940 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4578:Vmn2r52
|
UTSW |
7 |
9,904,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4806:Vmn2r52
|
UTSW |
7 |
9,893,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5083:Vmn2r52
|
UTSW |
7 |
9,893,392 (GRCm39) |
nonsense |
probably null |
|
|
R5249:Vmn2r52
|
UTSW |
7 |
9,910,197 (GRCm39) |
missense |
probably benign |
|
|
R5306:Vmn2r52
|
UTSW |
7 |
9,904,672 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5332:Vmn2r52
|
UTSW |
7 |
9,903,052 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5617:Vmn2r52
|
UTSW |
7 |
9,904,861 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5643:Vmn2r52
|
UTSW |
7 |
9,905,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5749:Vmn2r52
|
UTSW |
7 |
9,892,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5763:Vmn2r52
|
UTSW |
7 |
9,905,231 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6103:Vmn2r52
|
UTSW |
7 |
9,905,327 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6356:Vmn2r52
|
UTSW |
7 |
9,902,926 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6412:Vmn2r52
|
UTSW |
7 |
9,904,936 (GRCm39) |
missense |
probably benign |
|
|
R6657:Vmn2r52
|
UTSW |
7 |
9,893,090 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6997:Vmn2r52
|
UTSW |
7 |
9,902,998 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7395:Vmn2r52
|
UTSW |
7 |
9,904,744 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7621:Vmn2r52
|
UTSW |
7 |
9,907,274 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7691:Vmn2r52
|
UTSW |
7 |
9,893,109 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7852:Vmn2r52
|
UTSW |
7 |
9,892,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7908:Vmn2r52
|
UTSW |
7 |
9,896,877 (GRCm39) |
missense |
probably benign |
|
|
R7909:Vmn2r52
|
UTSW |
7 |
9,896,877 (GRCm39) |
missense |
probably benign |
|
|
R7912:Vmn2r52
|
UTSW |
7 |
9,896,877 (GRCm39) |
missense |
probably benign |
|
|
R7913:Vmn2r52
|
UTSW |
7 |
9,896,877 (GRCm39) |
missense |
probably benign |
|
|
R7938:Vmn2r52
|
UTSW |
7 |
9,893,300 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8884:Vmn2r52
|
UTSW |
7 |
9,892,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9003:Vmn2r52
|
UTSW |
7 |
9,905,181 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9140:Vmn2r52
|
UTSW |
7 |
9,892,643 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9141:Vmn2r52
|
UTSW |
7 |
9,905,331 (GRCm39) |
nonsense |
probably null |
|
|
R9500:Vmn2r52
|
UTSW |
7 |
9,905,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9562:Vmn2r52
|
UTSW |
7 |
9,893,476 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9564:Vmn2r52
|
UTSW |
7 |
9,905,182 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9565:Vmn2r52
|
UTSW |
7 |
9,893,476 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9597:Vmn2r52
|
UTSW |
7 |
9,904,719 (GRCm39) |
nonsense |
probably null |
|
|
R9743:Vmn2r52
|
UTSW |
7 |
9,904,606 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Z1176:Vmn2r52
|
UTSW |
7 |
9,905,127 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:Vmn2r52
|
UTSW |
7 |
9,903,117 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATAGAATGGGCCATGAGTTAAGTC -3'
(R):5'- CTATCAGATGGCCCCAAAGG -3'
Sequencing Primer
(F):5'- GGCCATGAGTTAAGTCTTTCTTAC -3'
(R):5'- GGACACATCTCTAGCATTGGCAATG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation