Incidental Mutation 'R0416:Vmn2r95'
| ID |
40352 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r95
|
| Ensembl Gene |
ENSMUSG00000091631 |
| Gene Name |
vomeronasal 2, receptor 95 |
| Synonyms |
|
| MMRRC Submission |
038618-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R0416 (G1)
|
| Quality Score |
193 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
18644366-18672586 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 18661664 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 470
(P470L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156117
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166327]
[ENSMUST00000232090]
[ENSMUST00000232464]
|
| AlphaFold |
A0A338P6T0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166327
AA Change: P470L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126106
Gene: ENSMUSG00000091631
AA Change: P470L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
82 |
462 |
1.8e-35 |
PFAM |
|
Pfam:NCD3G
|
509 |
562 |
3.2e-20 |
PFAM |
|
Pfam:7tm_3
|
594 |
830 |
3.2e-51 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232090
AA Change: P470L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232464
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 91.8%
|
| Validation Efficiency |
99% (74/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
A |
G |
7: 119,162,779 (GRCm39) |
I18V |
probably benign |
Het |
| Adamdec1 |
T |
G |
14: 68,806,161 (GRCm39) |
E438A |
possibly damaging |
Het |
| Adamts17 |
A |
G |
7: 66,565,646 (GRCm39) |
|
probably null |
Het |
| Ankrd44 |
T |
G |
1: 54,782,498 (GRCm39) |
I359L |
possibly damaging |
Het |
| Ap2s1 |
C |
A |
7: 16,481,290 (GRCm39) |
N86K |
probably damaging |
Het |
| Arih1 |
T |
A |
9: 59,333,993 (GRCm39) |
|
probably benign |
Het |
| Astn1 |
T |
A |
1: 158,337,461 (GRCm39) |
I389N |
probably damaging |
Het |
| Brca2 |
T |
C |
5: 150,492,857 (GRCm39) |
S3291P |
possibly damaging |
Het |
| Cacna1d |
T |
C |
14: 29,822,645 (GRCm39) |
|
probably benign |
Het |
| Ccl7 |
C |
A |
11: 81,936,692 (GRCm39) |
|
probably benign |
Het |
| Cd74 |
A |
T |
18: 60,944,486 (GRCm39) |
Y232F |
possibly damaging |
Het |
| Cep128 |
A |
G |
12: 91,197,641 (GRCm39) |
|
probably benign |
Het |
| Cep89 |
T |
A |
7: 35,115,827 (GRCm39) |
|
probably benign |
Het |
| Cmya5 |
T |
G |
13: 93,226,364 (GRCm39) |
N2908T |
probably benign |
Het |
| Coil |
T |
C |
11: 88,872,812 (GRCm39) |
L391S |
possibly damaging |
Het |
| Cpd |
C |
T |
11: 76,676,030 (GRCm39) |
V1208I |
probably benign |
Het |
| Ddx19a |
T |
C |
8: 111,705,689 (GRCm39) |
D254G |
probably damaging |
Het |
| Desi2 |
T |
A |
1: 178,083,887 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
A |
T |
12: 117,874,793 (GRCm39) |
M4024K |
probably damaging |
Het |
| Ergic2 |
A |
T |
6: 148,084,642 (GRCm39) |
L53H |
probably damaging |
Het |
| Etv2 |
T |
C |
7: 30,334,058 (GRCm39) |
Y225C |
probably benign |
Het |
| F10 |
G |
A |
8: 13,105,448 (GRCm39) |
A338T |
probably damaging |
Het |
| Fam228b |
T |
A |
12: 4,812,382 (GRCm39) |
D132V |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,174,960 (GRCm39) |
I1918F |
possibly damaging |
Het |
| Fbxw5 |
C |
T |
2: 25,393,251 (GRCm39) |
S214F |
probably damaging |
Het |
| Glyat |
G |
A |
19: 12,628,817 (GRCm39) |
R204Q |
possibly damaging |
Het |
| Gm4825 |
T |
C |
15: 85,395,182 (GRCm39) |
|
noncoding transcript |
Het |
| Ino80d |
G |
T |
1: 63,125,435 (GRCm39) |
T9K |
possibly damaging |
Het |
| Lifr |
A |
T |
15: 7,196,395 (GRCm39) |
D193V |
probably damaging |
Het |
| Lrp12 |
G |
T |
15: 39,742,307 (GRCm39) |
|
probably benign |
Het |
| Lrp3 |
A |
G |
7: 34,901,778 (GRCm39) |
V701A |
probably benign |
Het |
| Mfsd11 |
T |
A |
11: 116,756,708 (GRCm39) |
|
probably benign |
Het |
| Mrto4 |
A |
T |
4: 139,077,043 (GRCm39) |
|
probably null |
Het |
| Msi1 |
T |
C |
5: 115,568,708 (GRCm39) |
F43L |
possibly damaging |
Het |
| Mthfsd |
T |
C |
8: 121,827,976 (GRCm39) |
D168G |
probably damaging |
Het |
| Myo15a |
T |
A |
11: 60,402,000 (GRCm39) |
V3099E |
probably damaging |
Het |
| Myrf |
T |
C |
19: 10,193,176 (GRCm39) |
|
probably null |
Het |
| Nadk |
C |
A |
4: 155,672,256 (GRCm39) |
|
probably benign |
Het |
| Nav1 |
T |
C |
1: 135,398,864 (GRCm39) |
K573E |
possibly damaging |
Het |
| Ndufs3 |
A |
G |
2: 90,728,732 (GRCm39) |
V207A |
probably damaging |
Het |
| Nlrp3 |
T |
C |
11: 59,446,750 (GRCm39) |
|
probably benign |
Het |
| Nlrx1 |
T |
G |
9: 44,174,211 (GRCm39) |
D330A |
probably benign |
Het |
| Or2a56 |
G |
A |
6: 42,932,504 (GRCm39) |
C24Y |
probably benign |
Het |
| Or2t49 |
T |
C |
11: 58,393,222 (GRCm39) |
I53M |
unknown |
Het |
| Osbpl3 |
C |
T |
6: 50,324,998 (GRCm39) |
V167I |
probably benign |
Het |
| Pcnx1 |
A |
T |
12: 82,021,240 (GRCm39) |
I1410F |
probably benign |
Het |
| Piezo2 |
G |
A |
18: 63,157,562 (GRCm39) |
R2383C |
probably damaging |
Het |
| Pip5kl1 |
A |
T |
2: 32,473,436 (GRCm39) |
K358* |
probably null |
Het |
| Polg |
T |
C |
7: 79,101,988 (GRCm39) |
|
probably benign |
Het |
| Prr14l |
T |
A |
5: 32,986,061 (GRCm39) |
I1145F |
probably benign |
Het |
| Psmb1 |
C |
T |
17: 15,714,781 (GRCm39) |
V39I |
probably benign |
Het |
| Ptk6 |
T |
C |
2: 180,844,101 (GRCm39) |
Y66C |
possibly damaging |
Het |
| Robo4 |
T |
C |
9: 37,316,062 (GRCm39) |
|
probably benign |
Het |
| Sdk2 |
A |
G |
11: 113,694,029 (GRCm39) |
Y1801H |
probably damaging |
Het |
| Serpinb3a |
C |
A |
1: 106,977,116 (GRCm39) |
A95S |
probably benign |
Het |
| Setd1a |
CTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
CTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
7: 127,384,469 (GRCm39) |
|
probably benign |
Het |
| Sik2 |
A |
T |
9: 50,906,932 (GRCm39) |
Y98N |
probably damaging |
Het |
| Slc30a1 |
C |
T |
1: 191,641,838 (GRCm39) |
P495S |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,783,684 (GRCm39) |
|
probably benign |
Het |
| Stk3 |
T |
A |
15: 35,114,778 (GRCm39) |
I45L |
probably benign |
Het |
| Tapbp |
A |
G |
17: 34,144,392 (GRCm39) |
T163A |
probably damaging |
Het |
| Tdrd5 |
T |
C |
1: 156,113,051 (GRCm39) |
K410E |
probably damaging |
Het |
| Trim30b |
A |
T |
7: 104,012,973 (GRCm39) |
M152K |
probably benign |
Het |
| Trpm6 |
G |
T |
19: 18,760,389 (GRCm39) |
|
probably benign |
Het |
| Tsc22d1 |
T |
C |
14: 76,742,743 (GRCm39) |
|
probably benign |
Het |
| U2surp |
A |
T |
9: 95,367,660 (GRCm39) |
F444I |
probably damaging |
Het |
| Zc3h4 |
T |
G |
7: 16,154,200 (GRCm39) |
Y163D |
probably damaging |
Het |
| Zfp62 |
A |
T |
11: 49,106,503 (GRCm39) |
H198L |
probably damaging |
Het |
| Zmym1 |
A |
G |
4: 126,952,613 (GRCm39) |
L56P |
probably benign |
Het |
|
| Other mutations in Vmn2r95 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01024:Vmn2r95
|
APN |
17 |
18,672,590 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01479:Vmn2r95
|
APN |
17 |
18,664,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01890:Vmn2r95
|
APN |
17 |
18,671,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01986:Vmn2r95
|
APN |
17 |
18,660,473 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02113:Vmn2r95
|
APN |
17 |
18,660,169 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL02154:Vmn2r95
|
APN |
17 |
18,672,248 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02190:Vmn2r95
|
APN |
17 |
18,672,038 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02412:Vmn2r95
|
APN |
17 |
18,660,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02550:Vmn2r95
|
APN |
17 |
18,671,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02679:Vmn2r95
|
APN |
17 |
18,664,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02691:Vmn2r95
|
APN |
17 |
18,672,120 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02990:Vmn2r95
|
APN |
17 |
18,672,298 (GRCm39) |
nonsense |
probably null |
|
|
IGL03032:Vmn2r95
|
APN |
17 |
18,672,575 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0448:Vmn2r95
|
UTSW |
17 |
18,672,005 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0514:Vmn2r95
|
UTSW |
17 |
18,671,844 (GRCm39) |
missense |
probably benign |
|
|
R0519:Vmn2r95
|
UTSW |
17 |
18,659,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0539:Vmn2r95
|
UTSW |
17 |
18,672,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1501:Vmn2r95
|
UTSW |
17 |
18,660,118 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1598:Vmn2r95
|
UTSW |
17 |
18,672,575 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1613:Vmn2r95
|
UTSW |
17 |
18,660,901 (GRCm39) |
splice site |
probably benign |
|
|
R1861:Vmn2r95
|
UTSW |
17 |
18,672,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1921:Vmn2r95
|
UTSW |
17 |
18,644,575 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1986:Vmn2r95
|
UTSW |
17 |
18,671,805 (GRCm39) |
missense |
probably benign |
|
|
R2031:Vmn2r95
|
UTSW |
17 |
18,659,717 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2040:Vmn2r95
|
UTSW |
17 |
18,661,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3608:Vmn2r95
|
UTSW |
17 |
18,660,235 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R3727:Vmn2r95
|
UTSW |
17 |
18,661,744 (GRCm39) |
nonsense |
probably null |
|
|
R3953:Vmn2r95
|
UTSW |
17 |
18,660,358 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3955:Vmn2r95
|
UTSW |
17 |
18,660,358 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3957:Vmn2r95
|
UTSW |
17 |
18,660,358 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4474:Vmn2r95
|
UTSW |
17 |
18,672,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4672:Vmn2r95
|
UTSW |
17 |
18,672,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4850:Vmn2r95
|
UTSW |
17 |
18,671,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5054:Vmn2r95
|
UTSW |
17 |
18,671,708 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5178:Vmn2r95
|
UTSW |
17 |
18,660,337 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5980:Vmn2r95
|
UTSW |
17 |
18,661,624 (GRCm39) |
missense |
probably benign |
|
|
R6183:Vmn2r95
|
UTSW |
17 |
18,664,192 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6276:Vmn2r95
|
UTSW |
17 |
18,671,732 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6651:Vmn2r95
|
UTSW |
17 |
18,660,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6682:Vmn2r95
|
UTSW |
17 |
18,660,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6797:Vmn2r95
|
UTSW |
17 |
18,672,551 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6799:Vmn2r95
|
UTSW |
17 |
18,659,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6849:Vmn2r95
|
UTSW |
17 |
18,664,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6849:Vmn2r95
|
UTSW |
17 |
18,664,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6982:Vmn2r95
|
UTSW |
17 |
18,672,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7203:Vmn2r95
|
UTSW |
17 |
18,661,577 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7226:Vmn2r95
|
UTSW |
17 |
18,672,245 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7240:Vmn2r95
|
UTSW |
17 |
18,672,225 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7383:Vmn2r95
|
UTSW |
17 |
18,660,734 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7614:Vmn2r95
|
UTSW |
17 |
18,660,352 (GRCm39) |
missense |
probably benign |
|
|
R7755:Vmn2r95
|
UTSW |
17 |
18,644,367 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R7942:Vmn2r95
|
UTSW |
17 |
18,660,529 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8355:Vmn2r95
|
UTSW |
17 |
18,660,352 (GRCm39) |
missense |
probably benign |
|
|
R8455:Vmn2r95
|
UTSW |
17 |
18,660,352 (GRCm39) |
missense |
probably benign |
|
|
R8478:Vmn2r95
|
UTSW |
17 |
18,672,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8547:Vmn2r95
|
UTSW |
17 |
18,664,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8752:Vmn2r95
|
UTSW |
17 |
18,661,738 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8788:Vmn2r95
|
UTSW |
17 |
18,671,790 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8852:Vmn2r95
|
UTSW |
17 |
18,664,113 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9098:Vmn2r95
|
UTSW |
17 |
18,660,167 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9202:Vmn2r95
|
UTSW |
17 |
18,644,394 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9244:Vmn2r95
|
UTSW |
17 |
18,672,189 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9546:Vmn2r95
|
UTSW |
17 |
18,661,721 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9665:Vmn2r95
|
UTSW |
17 |
18,660,607 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Vmn2r95
|
UTSW |
17 |
18,660,663 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATCATGTGCAAGATACCAGGAGCAAA -3'
(R):5'- TCCCCAAATTGTGACAAATGGAGGAAA -3'
Sequencing Primer
(F):5'- GGACATGGTAACTCCAAACATATTC -3'
(R):5'- GGGGACTTATTGAACACTGTATTC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation