Incidental Mutation 'R5306:Vmn2r52'
ID |
404559 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r52
|
Ensembl Gene |
ENSMUSG00000091930 |
Gene Name |
vomeronasal 2, receptor 52 |
Synonyms |
EG384534 |
MMRRC Submission |
042889-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R5306 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
9892579-9910213 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 9904672 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Arginine
at position 389
(I389R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129352
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164918]
|
AlphaFold |
L7N2B2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164918
AA Change: I389R
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000129352 Gene: ENSMUSG00000091930 AA Change: I389R
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
97% (64/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam29 |
T |
A |
8: 56,324,792 (GRCm39) |
D554V |
probably damaging |
Het |
Ankrd44 |
G |
A |
1: 54,965,362 (GRCm39) |
|
probably benign |
Het |
Api5 |
A |
T |
2: 94,253,811 (GRCm39) |
C297* |
probably null |
Het |
Asb14 |
G |
A |
14: 26,633,866 (GRCm39) |
C357Y |
probably damaging |
Het |
Brd10 |
A |
G |
19: 29,707,230 (GRCm39) |
|
probably benign |
Het |
Brdt |
T |
A |
5: 107,493,010 (GRCm39) |
D112E |
probably damaging |
Het |
Capsl |
C |
A |
15: 9,457,876 (GRCm39) |
Q32K |
probably benign |
Het |
Ccdc106 |
A |
G |
7: 5,061,096 (GRCm39) |
D81G |
probably damaging |
Het |
Ccdc121rt3 |
T |
C |
5: 112,502,910 (GRCm39) |
R265G |
probably benign |
Het |
Cep104 |
C |
A |
4: 154,090,699 (GRCm39) |
T884K |
probably benign |
Het |
Cmbl |
T |
C |
15: 31,582,215 (GRCm39) |
Y71H |
probably damaging |
Het |
Crybg3 |
A |
T |
16: 59,380,356 (GRCm39) |
|
probably benign |
Het |
Dynlt1c |
T |
C |
17: 6,869,210 (GRCm39) |
M1T |
probably null |
Het |
Erbb2 |
T |
C |
11: 98,319,032 (GRCm39) |
S574P |
probably benign |
Het |
Exosc10 |
T |
C |
4: 148,646,849 (GRCm39) |
V153A |
probably benign |
Het |
Faxc |
G |
T |
4: 21,931,557 (GRCm39) |
|
probably benign |
Het |
Fcgbp |
A |
G |
7: 27,791,243 (GRCm39) |
T835A |
probably damaging |
Het |
Fmo5 |
G |
T |
3: 97,549,076 (GRCm39) |
M241I |
probably benign |
Het |
Gabra1 |
A |
C |
11: 42,024,379 (GRCm39) |
I432S |
probably benign |
Het |
Gfap |
A |
G |
11: 102,786,574 (GRCm39) |
|
probably null |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gm12185 |
T |
A |
11: 48,806,382 (GRCm39) |
M270L |
probably benign |
Het |
Gm14443 |
T |
C |
2: 175,011,372 (GRCm39) |
N358S |
possibly damaging |
Het |
Gpr3 |
C |
T |
4: 132,938,490 (GRCm39) |
V61M |
probably damaging |
Het |
Herc2 |
C |
T |
7: 55,834,709 (GRCm39) |
T3229M |
probably damaging |
Het |
Ifit3 |
A |
G |
19: 34,565,207 (GRCm39) |
Y251C |
probably damaging |
Het |
Inf2 |
G |
A |
12: 112,567,987 (GRCm39) |
V180I |
probably benign |
Het |
Ints11 |
T |
C |
4: 155,959,665 (GRCm39) |
Y91H |
probably damaging |
Het |
Ints4 |
A |
C |
7: 97,158,885 (GRCm39) |
D419A |
probably damaging |
Het |
Kmt2e |
T |
C |
5: 23,704,331 (GRCm39) |
S1175P |
probably damaging |
Het |
Mki67 |
A |
T |
7: 135,315,730 (GRCm39) |
V44E |
probably damaging |
Het |
Mrgprb13 |
A |
T |
7: 47,961,940 (GRCm39) |
|
noncoding transcript |
Het |
Myh2 |
T |
C |
11: 67,077,382 (GRCm39) |
L839P |
probably damaging |
Het |
Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
Or4l1 |
A |
G |
14: 50,167,007 (GRCm39) |
|
probably benign |
Het |
Or6c70 |
A |
C |
10: 129,709,810 (GRCm39) |
I272R |
probably damaging |
Het |
Pced1a |
T |
A |
2: 130,261,091 (GRCm39) |
H422L |
probably benign |
Het |
Plpp1 |
G |
T |
13: 112,988,089 (GRCm39) |
|
probably null |
Het |
Plxna4 |
T |
C |
6: 32,183,056 (GRCm39) |
Y949C |
probably damaging |
Het |
Polg2 |
G |
A |
11: 106,669,796 (GRCm39) |
T158I |
probably damaging |
Het |
Prss38 |
A |
T |
11: 59,263,821 (GRCm39) |
I297K |
probably benign |
Het |
Psph |
A |
G |
5: 129,846,431 (GRCm39) |
L98P |
probably damaging |
Het |
Rab11b |
G |
A |
17: 33,979,243 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
CGGCGGC |
CGGCGGCGGGGGCGGC |
7: 97,229,136 (GRCm39) |
|
probably benign |
Het |
Serpine3 |
G |
A |
14: 62,908,382 (GRCm39) |
A137T |
probably damaging |
Het |
Sh3bp4 |
T |
C |
1: 89,071,997 (GRCm39) |
F282L |
probably damaging |
Het |
Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
Skic3 |
G |
A |
13: 76,295,886 (GRCm39) |
E1050K |
possibly damaging |
Het |
Slco2b1 |
T |
A |
7: 99,338,198 (GRCm39) |
Y109F |
possibly damaging |
Het |
Slfn10-ps |
T |
A |
11: 82,926,355 (GRCm39) |
|
noncoding transcript |
Het |
Smc5 |
A |
G |
19: 23,237,009 (GRCm39) |
|
probably null |
Het |
Smyd4 |
A |
G |
11: 75,292,984 (GRCm39) |
N638S |
probably benign |
Het |
Stxbp5 |
T |
C |
10: 9,675,735 (GRCm39) |
E628G |
probably damaging |
Het |
Tmem236 |
A |
T |
2: 14,223,975 (GRCm39) |
K255* |
probably null |
Het |
Ttc29 |
T |
A |
8: 78,978,539 (GRCm39) |
|
probably null |
Het |
Tyr |
A |
G |
7: 87,087,222 (GRCm39) |
I430T |
probably damaging |
Het |
Uckl1 |
A |
G |
2: 181,216,160 (GRCm39) |
|
probably null |
Het |
Wdr62 |
A |
T |
7: 29,964,688 (GRCm39) |
F352Y |
possibly damaging |
Het |
Wdr70 |
T |
C |
15: 7,953,754 (GRCm39) |
D379G |
probably benign |
Het |
Zfp408 |
T |
A |
2: 91,476,690 (GRCm39) |
M155L |
probably benign |
Het |
Zfp459 |
T |
A |
13: 67,561,249 (GRCm39) |
Q66H |
probably damaging |
Het |
Zfp870 |
C |
A |
17: 33,102,627 (GRCm39) |
G234V |
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 |
R5083:Vmn2r52
|
UTSW |
7 |
9,893,392 (GRCm39) |
nonsense |
probably null |
|
R5249:Vmn2r52
|
UTSW |
7 |
9,910,197 (GRCm39) |
missense |
probably benign |
|
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'- GCTATGCTATTGAAGACACCAAAC -3'
(R):5'- AAAGACTTAACTCATGGCCCATTC -3'
Sequencing Primer
(F):5'- TGCTATTGAAGACACCAAACACCATC -3'
(R):5'- ACCATGGTGAGATTTCTGGC -3'
|
Posted On |
2016-07-22 |