Incidental Mutation 'R5083:Vmn2r52'
| ID |
387253 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r52
|
| Ensembl Gene |
ENSMUSG00000091930 |
| Gene Name |
vomeronasal 2, receptor 52 |
| Synonyms |
EG384534 |
| MMRRC Submission |
042672-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R5083 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
9892579-9910213 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 9893392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 582
(Y582*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129352
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164918]
|
| AlphaFold |
L7N2B2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000164918
AA Change: Y582*
|
| SMART Domains |
Protein: ENSMUSP00000129352
Gene: ENSMUSG00000091930
AA Change: Y582*
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
C |
T |
17: 48,473,558 (GRCm39) |
V120M |
possibly damaging |
Het |
| Abca6 |
T |
C |
11: 110,109,793 (GRCm39) |
D646G |
probably damaging |
Het |
| Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
| Arid1b |
A |
G |
17: 5,364,293 (GRCm39) |
T554A |
possibly damaging |
Het |
| Atp2a3 |
G |
T |
11: 72,873,652 (GRCm39) |
V824L |
probably null |
Het |
| Bet1 |
T |
C |
6: 4,077,895 (GRCm39) |
I115V |
possibly damaging |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Cfap65 |
A |
G |
1: 74,945,600 (GRCm39) |
S1373P |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,711,002 (GRCm39) |
L353P |
probably damaging |
Het |
| Chil3 |
C |
A |
3: 106,071,405 (GRCm39) |
|
probably null |
Het |
| Comp |
C |
T |
8: 70,833,950 (GRCm39) |
T655M |
probably damaging |
Het |
| Dctd |
T |
C |
8: 48,564,751 (GRCm39) |
Y18H |
probably damaging |
Het |
| Ddx39b |
G |
A |
17: 35,472,005 (GRCm39) |
G348D |
possibly damaging |
Het |
| Dhx36 |
A |
T |
3: 62,379,420 (GRCm39) |
S889R |
probably benign |
Het |
| Dtx2 |
T |
C |
5: 136,041,044 (GRCm39) |
Y150H |
probably damaging |
Het |
| Epx |
A |
G |
11: 87,763,506 (GRCm39) |
F238S |
probably damaging |
Het |
| Ergic2 |
T |
C |
6: 148,097,512 (GRCm39) |
T154A |
probably benign |
Het |
| Esco1 |
A |
G |
18: 10,594,734 (GRCm39) |
I184T |
probably benign |
Het |
| Esf1 |
G |
T |
2: 139,998,991 (GRCm39) |
A495E |
possibly damaging |
Het |
| Esf1 |
T |
C |
2: 140,000,499 (GRCm39) |
Y429C |
possibly damaging |
Het |
| Fcho1 |
C |
A |
8: 72,169,820 (GRCm39) |
R101L |
probably benign |
Het |
| Foxn4 |
T |
A |
5: 114,394,988 (GRCm39) |
D313V |
probably damaging |
Het |
| Gm11568 |
T |
C |
11: 99,748,798 (GRCm39) |
M1T |
probably null |
Het |
| Gphn |
T |
A |
12: 78,670,063 (GRCm39) |
|
probably null |
Het |
| Grid2 |
C |
T |
6: 64,297,136 (GRCm39) |
Q500* |
probably null |
Het |
| Igsf10 |
A |
G |
3: 59,233,694 (GRCm39) |
S1680P |
probably damaging |
Het |
| Ints12 |
T |
C |
3: 132,806,538 (GRCm39) |
M155T |
possibly damaging |
Het |
| Invs |
A |
T |
4: 48,396,307 (GRCm39) |
M327L |
possibly damaging |
Het |
| Kdm3a |
T |
C |
6: 71,598,346 (GRCm39) |
E180G |
probably damaging |
Het |
| Mgat3 |
G |
A |
15: 80,095,499 (GRCm39) |
V109M |
possibly damaging |
Het |
| Mrgprb3 |
A |
G |
7: 48,292,762 (GRCm39) |
V263A |
probably benign |
Het |
| Mroh7 |
A |
T |
4: 106,547,515 (GRCm39) |
V1109D |
probably benign |
Het |
| Myo15b |
A |
T |
11: 115,757,482 (GRCm39) |
T1111S |
probably benign |
Het |
| Myo19 |
G |
T |
11: 84,794,037 (GRCm39) |
A654S |
possibly damaging |
Het |
| Mypn |
A |
T |
10: 62,954,307 (GRCm39) |
V1224D |
probably damaging |
Het |
| Nalcn |
A |
G |
14: 123,560,706 (GRCm39) |
|
probably null |
Het |
| Or2a52 |
G |
T |
6: 43,144,273 (GRCm39) |
A94S |
probably benign |
Het |
| Or52e7 |
A |
T |
7: 104,684,618 (GRCm39) |
Y71F |
probably damaging |
Het |
| Or8c10 |
G |
A |
9: 38,279,358 (GRCm39) |
C172Y |
possibly damaging |
Het |
| Pdcd2 |
A |
G |
17: 15,743,084 (GRCm39) |
I247T |
possibly damaging |
Het |
| Pik3c2a |
A |
T |
7: 115,941,636 (GRCm39) |
N1571K |
probably damaging |
Het |
| Plagl2 |
T |
C |
2: 153,077,964 (GRCm39) |
T6A |
probably benign |
Het |
| Ros1 |
T |
A |
10: 52,040,037 (GRCm39) |
Y318F |
possibly damaging |
Het |
| Sdccag8 |
C |
A |
1: 176,652,458 (GRCm39) |
H70N |
probably damaging |
Het |
| Skint1 |
A |
G |
4: 111,886,630 (GRCm39) |
R359G |
probably benign |
Het |
| Slc44a5 |
A |
T |
3: 153,953,424 (GRCm39) |
I269L |
probably benign |
Het |
| Slfn10-ps |
T |
A |
11: 82,921,341 (GRCm39) |
|
noncoding transcript |
Het |
| Suclg1 |
C |
A |
6: 73,240,963 (GRCm39) |
T164K |
probably benign |
Het |
| Tgds |
C |
A |
14: 118,353,491 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,643,877 (GRCm39) |
D13117G |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,701,081 (GRCm39) |
|
probably benign |
Het |
| Vmn2r28 |
A |
T |
7: 5,483,671 (GRCm39) |
I843N |
possibly damaging |
Het |
| Vps33b |
G |
T |
7: 79,924,389 (GRCm39) |
K65N |
probably damaging |
Het |
| Zfp1010 |
A |
G |
2: 176,957,364 (GRCm39) |
F45L |
probably damaging |
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 |
|
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 |
|
R6148:Vmn2r52
|
UTSW |
7 |
9,905,090 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- CAGGTGACTCTGTTAGGGTGAC -3'
(R):5'- ATTTCCAGCATCAGGGCAG -3'
Sequencing Primer
(F):5'- TGACCAATGAAGAAAAAGGTGCAC -3'
(R):5'- GCATTGCAAGGCTCCTGTCAAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation