Incidental Mutation 'R9661:Vmn2r54'
| ID |
727579 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r54
|
| Ensembl Gene |
ENSMUSG00000096593 |
| Gene Name |
vomeronasal 2, receptor 54 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R9661 (G1)
|
| Quality Score |
208.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
12349160-12374167 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 12349166 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 805
(N805K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083386
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086210]
|
| AlphaFold |
A0A3B2W422 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086210
AA Change: N805K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000083386
Gene: ENSMUSG00000096593
AA Change: N805K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
5 |
397 |
4.3e-58 |
PFAM |
|
Pfam:NCD3G
|
442 |
495 |
2.2e-19 |
PFAM |
|
Pfam:7tm_3
|
526 |
763 |
1.2e-54 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
T |
A |
5: 138,645,451 (GRCm39) |
H445Q |
possibly damaging |
Het |
| Aadacl4 |
C |
A |
4: 144,340,287 (GRCm39) |
P4Q |
probably damaging |
Het |
| Adgre1 |
A |
G |
17: 57,748,368 (GRCm39) |
T523A |
possibly damaging |
Het |
| Arhgap32 |
A |
G |
9: 32,168,531 (GRCm39) |
E838G |
probably benign |
Het |
| Atad5 |
G |
T |
11: 79,980,542 (GRCm39) |
|
probably benign |
Het |
| Card10 |
C |
T |
15: 78,683,318 (GRCm39) |
R275H |
probably damaging |
Het |
| Cdh16 |
A |
G |
8: 105,345,612 (GRCm39) |
V327A |
probably benign |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Cttnbp2 |
T |
A |
6: 18,429,151 (GRCm39) |
Q159L |
|
Het |
| D630003M21Rik |
A |
G |
2: 158,047,673 (GRCm39) |
L732P |
possibly damaging |
Het |
| Dgcr8 |
T |
C |
16: 18,098,579 (GRCm39) |
I308V |
possibly damaging |
Het |
| Dhx9 |
A |
G |
1: 153,340,393 (GRCm39) |
F702L |
probably damaging |
Het |
| Dpy19l1 |
T |
C |
9: 24,386,730 (GRCm39) |
Y188C |
probably damaging |
Het |
| Eea1 |
T |
C |
10: 95,862,742 (GRCm39) |
L888S |
probably benign |
Het |
| Elmo1 |
T |
C |
13: 20,469,531 (GRCm39) |
|
probably null |
Het |
| Fam186a |
T |
A |
15: 99,842,492 (GRCm39) |
I1251F |
possibly damaging |
Het |
| Fer1l4 |
G |
A |
2: 155,862,336 (GRCm39) |
A1779V |
probably damaging |
Het |
| Fgfrl1 |
C |
T |
5: 108,853,841 (GRCm39) |
T407I |
probably benign |
Het |
| Gkn1 |
T |
C |
6: 87,325,173 (GRCm39) |
K79E |
probably damaging |
Het |
| Gm11564 |
C |
T |
11: 99,706,247 (GRCm39) |
R61H |
unknown |
Het |
| Gpr107 |
T |
C |
2: 31,057,075 (GRCm39) |
F56L |
probably benign |
Het |
| H2-T22 |
T |
C |
17: 36,353,371 (GRCm39) |
|
probably benign |
Het |
| Hs1bp3 |
T |
C |
12: 8,367,940 (GRCm39) |
V63A |
probably damaging |
Het |
| Htr6 |
A |
G |
4: 138,801,963 (GRCm39) |
I37T |
probably damaging |
Het |
| Kifc5b |
T |
C |
17: 27,140,836 (GRCm39) |
|
probably null |
Het |
| Lrfn2 |
T |
C |
17: 49,403,650 (GRCm39) |
I591T |
probably benign |
Het |
| Lrrc49 |
A |
T |
9: 60,573,582 (GRCm39) |
I300N |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,808,779 (GRCm39) |
T150A |
probably benign |
Het |
| Myh11 |
T |
C |
16: 14,041,857 (GRCm39) |
Q722R |
|
Het |
| Nek9 |
T |
C |
12: 85,361,253 (GRCm39) |
Q484R |
possibly damaging |
Het |
| Nfs1 |
A |
T |
2: 155,970,473 (GRCm39) |
V280E |
probably damaging |
Het |
| Notch3 |
T |
A |
17: 32,373,792 (GRCm39) |
D472V |
probably damaging |
Het |
| Nt5c1b |
T |
C |
12: 10,425,450 (GRCm39) |
V273A |
probably damaging |
Het |
| Nudt12 |
T |
C |
17: 59,316,981 (GRCm39) |
D222G |
probably benign |
Het |
| Nup98 |
G |
A |
7: 101,782,019 (GRCm39) |
Q1204* |
probably null |
Het |
| Nwd2 |
A |
T |
5: 63,957,780 (GRCm39) |
Y370F |
probably damaging |
Het |
| Oas3 |
A |
T |
5: 120,904,230 (GRCm39) |
I548N |
unknown |
Het |
| Ogfr |
A |
T |
2: 180,233,431 (GRCm39) |
N78Y |
probably damaging |
Het |
| Or10ak11 |
A |
T |
4: 118,687,526 (GRCm39) |
L36Q |
probably benign |
Het |
| Prkcq |
A |
T |
2: 11,250,141 (GRCm39) |
K153* |
probably null |
Het |
| Ptpdc1 |
T |
A |
13: 48,739,610 (GRCm39) |
N607I |
probably benign |
Het |
| Rab5c |
G |
T |
11: 100,606,917 (GRCm39) |
Q221K |
probably benign |
Het |
| Ret |
G |
A |
6: 118,150,437 (GRCm39) |
T693I |
probably benign |
Het |
| Rnf20 |
A |
G |
4: 49,654,556 (GRCm39) |
E871G |
probably damaging |
Het |
| Rtl1 |
G |
T |
12: 109,557,346 (GRCm39) |
P1498T |
possibly damaging |
Het |
| Septin9 |
C |
G |
11: 117,245,751 (GRCm39) |
R458G |
possibly damaging |
Het |
| Sh2d2a |
T |
C |
3: 87,756,788 (GRCm39) |
|
probably null |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Slc16a4 |
T |
A |
3: 107,213,359 (GRCm39) |
D451E |
probably benign |
Het |
| Slc36a3 |
A |
G |
11: 55,015,984 (GRCm39) |
F390S |
probably benign |
Het |
| Slc4a2 |
T |
A |
5: 24,640,005 (GRCm39) |
M576K |
probably damaging |
Het |
| Smim14 |
T |
C |
5: 65,610,533 (GRCm39) |
H88R |
possibly damaging |
Het |
| Spata31e5 |
G |
T |
1: 28,816,536 (GRCm39) |
H499N |
probably benign |
Het |
| Sspo |
C |
T |
6: 48,455,272 (GRCm39) |
Q3045* |
probably null |
Het |
| Supt7l |
C |
A |
5: 31,680,403 (GRCm39) |
R3M |
probably damaging |
Het |
| Tjap1 |
A |
G |
17: 46,571,092 (GRCm39) |
W132R |
probably damaging |
Het |
| Tmem26 |
T |
A |
10: 68,559,838 (GRCm39) |
W37R |
probably damaging |
Het |
| Tut7 |
T |
C |
13: 59,937,332 (GRCm39) |
D1155G |
probably damaging |
Het |
| Vmn1r119 |
C |
T |
7: 20,746,224 (GRCm39) |
V53M |
possibly damaging |
Het |
| Zfp638 |
T |
C |
6: 83,923,320 (GRCm39) |
V706A |
probably damaging |
Het |
|
| Other mutations in Vmn2r54 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00155:Vmn2r54
|
APN |
7 |
12,365,840 (GRCm39) |
splice site |
probably benign |
|
|
IGL01778:Vmn2r54
|
APN |
7 |
12,366,009 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01998:Vmn2r54
|
APN |
7 |
12,349,227 (GRCm39) |
missense |
probably benign |
|
|
IGL02028:Vmn2r54
|
APN |
7 |
12,366,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02064:Vmn2r54
|
APN |
7 |
12,349,533 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02238:Vmn2r54
|
APN |
7 |
12,369,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03062:Vmn2r54
|
APN |
7 |
12,366,355 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03120:Vmn2r54
|
APN |
7 |
12,349,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4453001:Vmn2r54
|
UTSW |
7 |
12,363,669 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0212:Vmn2r54
|
UTSW |
7 |
12,366,424 (GRCm39) |
missense |
probably benign |
|
|
R0360:Vmn2r54
|
UTSW |
7 |
12,349,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1646:Vmn2r54
|
UTSW |
7 |
12,366,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1673:Vmn2r54
|
UTSW |
7 |
12,350,138 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1738:Vmn2r54
|
UTSW |
7 |
12,369,815 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1856:Vmn2r54
|
UTSW |
7 |
12,366,238 (GRCm39) |
missense |
probably benign |
|
|
R2012:Vmn2r54
|
UTSW |
7 |
12,349,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2038:Vmn2r54
|
UTSW |
7 |
12,363,637 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2160:Vmn2r54
|
UTSW |
7 |
12,349,420 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2397:Vmn2r54
|
UTSW |
7 |
12,349,578 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2430:Vmn2r54
|
UTSW |
7 |
12,365,933 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2829:Vmn2r54
|
UTSW |
7 |
12,349,617 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R2975:Vmn2r54
|
UTSW |
7 |
12,369,919 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3005:Vmn2r54
|
UTSW |
7 |
12,349,221 (GRCm39) |
missense |
probably benign |
0.28 |
|
R3725:Vmn2r54
|
UTSW |
7 |
12,366,223 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4486:Vmn2r54
|
UTSW |
7 |
12,366,199 (GRCm39) |
nonsense |
probably null |
|
|
R4881:Vmn2r54
|
UTSW |
7 |
12,363,598 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4907:Vmn2r54
|
UTSW |
7 |
12,350,150 (GRCm39) |
splice site |
probably null |
|
|
R5536:Vmn2r54
|
UTSW |
7 |
12,366,343 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5637:Vmn2r54
|
UTSW |
7 |
12,349,296 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5703:Vmn2r54
|
UTSW |
7 |
12,363,594 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5769:Vmn2r54
|
UTSW |
7 |
12,349,209 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5972:Vmn2r54
|
UTSW |
7 |
12,369,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5972:Vmn2r54
|
UTSW |
7 |
12,349,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5977:Vmn2r54
|
UTSW |
7 |
12,366,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6084:Vmn2r54
|
UTSW |
7 |
12,366,205 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6176:Vmn2r54
|
UTSW |
7 |
12,349,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6229:Vmn2r54
|
UTSW |
7 |
12,365,883 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6371:Vmn2r54
|
UTSW |
7 |
12,349,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6374:Vmn2r54
|
UTSW |
7 |
12,349,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6804:Vmn2r54
|
UTSW |
7 |
12,363,792 (GRCm39) |
missense |
probably benign |
|
|
R6886:Vmn2r54
|
UTSW |
7 |
12,366,080 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7041:Vmn2r54
|
UTSW |
7 |
12,363,751 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7058:Vmn2r54
|
UTSW |
7 |
12,349,722 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7113:Vmn2r54
|
UTSW |
7 |
12,350,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7124:Vmn2r54
|
UTSW |
7 |
12,356,078 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7126:Vmn2r54
|
UTSW |
7 |
12,366,088 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7236:Vmn2r54
|
UTSW |
7 |
12,365,917 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7337:Vmn2r54
|
UTSW |
7 |
12,356,044 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7406:Vmn2r54
|
UTSW |
7 |
12,350,150 (GRCm39) |
splice site |
probably null |
|
|
R7634:Vmn2r54
|
UTSW |
7 |
12,349,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7793:Vmn2r54
|
UTSW |
7 |
12,366,196 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8139:Vmn2r54
|
UTSW |
7 |
12,349,743 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8158:Vmn2r54
|
UTSW |
7 |
12,349,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8179:Vmn2r54
|
UTSW |
7 |
12,366,018 (GRCm39) |
nonsense |
probably null |
|
|
R8440:Vmn2r54
|
UTSW |
7 |
12,350,013 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8712:Vmn2r54
|
UTSW |
7 |
12,369,877 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8853:Vmn2r54
|
UTSW |
7 |
12,349,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8859:Vmn2r54
|
UTSW |
7 |
12,363,702 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9146:Vmn2r54
|
UTSW |
7 |
12,366,647 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9157:Vmn2r54
|
UTSW |
7 |
12,366,055 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9344:Vmn2r54
|
UTSW |
7 |
12,366,283 (GRCm39) |
missense |
probably benign |
|
|
R9423:Vmn2r54
|
UTSW |
7 |
12,349,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9534:Vmn2r54
|
UTSW |
7 |
12,366,093 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9632:Vmn2r54
|
UTSW |
7 |
12,363,753 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9710:Vmn2r54
|
UTSW |
7 |
12,363,753 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
U24488:Vmn2r54
|
UTSW |
7 |
12,349,356 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
X0066:Vmn2r54
|
UTSW |
7 |
12,349,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Vmn2r54
|
UTSW |
7 |
12,366,035 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCACTGTATATATGGATGCAACAGG -3'
(R):5'- AGAGATCTTTTCCATCCTGGCC -3'
Sequencing Primer
(F):5'- GGGTATCACACTCAAGTTGTCATGC -3'
(R):5'- CTCCACTGCTGGGCTTCTGG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation