Incidental Mutation 'R5054:Vmn2r95'
| ID |
390736 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r95
|
| Ensembl Gene |
ENSMUSG00000091631 |
| Gene Name |
vomeronasal 2, receptor 95 |
| Synonyms |
|
| MMRRC Submission |
042644-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R5054 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
18644366-18672586 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 18671708 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 482
(V482L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156383
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166327]
[ENSMUST00000232090]
[ENSMUST00000232464]
|
| AlphaFold |
A0A338P6T0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166327
|
| SMART Domains |
Protein: ENSMUSP00000126106
Gene: ENSMUSG00000091631
| 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 benign
Transcript: ENSMUST00000232090
AA Change: V554L
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000232464
AA Change: V482L
PolyPhen 2
Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
94% (67/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
A |
G |
13: 59,837,315 (GRCm39) |
Y257H |
probably damaging |
Het |
| Adam28 |
C |
T |
14: 68,855,164 (GRCm39) |
C659Y |
probably damaging |
Het |
| Adamtsl2 |
G |
A |
2: 26,991,732 (GRCm39) |
E627K |
probably damaging |
Het |
| Atad5 |
T |
A |
11: 79,985,502 (GRCm39) |
S196R |
probably benign |
Het |
| Bcam |
T |
A |
7: 19,490,785 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,962,320 (GRCm39) |
H3978R |
probably damaging |
Het |
| Btbd7 |
T |
C |
12: 102,804,471 (GRCm39) |
I190V |
probably benign |
Het |
| Ccdc8 |
T |
C |
7: 16,728,970 (GRCm39) |
V153A |
probably damaging |
Het |
| Cyp2a5 |
C |
G |
7: 26,540,529 (GRCm39) |
R68G |
probably damaging |
Het |
| Dock3 |
T |
C |
9: 106,815,105 (GRCm39) |
Y1254C |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,085,007 (GRCm39) |
E2794G |
possibly damaging |
Het |
| Dytn |
C |
A |
1: 63,700,318 (GRCm39) |
V271L |
possibly damaging |
Het |
| Eif1ad15 |
T |
C |
12: 88,288,071 (GRCm39) |
I61V |
probably benign |
Het |
| Eif2s2 |
A |
C |
2: 154,734,590 (GRCm39) |
|
probably null |
Het |
| Fndc7 |
A |
G |
3: 108,788,663 (GRCm39) |
S193P |
probably damaging |
Het |
| Fzr1 |
G |
A |
10: 81,207,253 (GRCm39) |
|
probably benign |
Het |
| Gm17472 |
T |
C |
6: 42,957,938 (GRCm39) |
I69T |
probably damaging |
Het |
| Gmppa |
C |
A |
1: 75,416,015 (GRCm39) |
Y137* |
probably null |
Het |
| Gpr45 |
A |
G |
1: 43,071,809 (GRCm39) |
I151V |
probably benign |
Het |
| H1f0 |
G |
A |
15: 78,912,973 (GRCm39) |
A18T |
probably damaging |
Het |
| Hbb-bh1 |
C |
T |
7: 103,491,063 (GRCm39) |
V114I |
probably benign |
Het |
| Impa2 |
C |
A |
18: 67,439,797 (GRCm39) |
P98Q |
probably damaging |
Het |
| Kazn |
T |
C |
4: 141,835,957 (GRCm39) |
N573D |
unknown |
Het |
| Kcna2 |
A |
T |
3: 107,011,656 (GRCm39) |
D79V |
probably damaging |
Het |
| Kcna7 |
G |
A |
7: 45,056,015 (GRCm39) |
R77H |
probably damaging |
Het |
| Kif13a |
A |
G |
13: 46,956,122 (GRCm39) |
Y561H |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Klra1 |
T |
A |
6: 130,352,247 (GRCm39) |
Q165L |
probably damaging |
Het |
| Mat2b |
T |
A |
11: 40,570,869 (GRCm39) |
R318S |
probably damaging |
Het |
| Mgat4d |
G |
A |
8: 84,094,837 (GRCm39) |
|
probably null |
Het |
| Mtor |
T |
A |
4: 148,641,312 (GRCm39) |
|
probably null |
Het |
| Nostrin |
A |
T |
2: 69,006,057 (GRCm39) |
Q247L |
possibly damaging |
Het |
| Obi1 |
C |
T |
14: 104,745,466 (GRCm39) |
G70E |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,964,443 (GRCm39) |
E3033G |
probably damaging |
Het |
| Pam |
C |
A |
1: 97,749,642 (GRCm39) |
D839Y |
probably damaging |
Het |
| Pds5a |
A |
G |
5: 65,795,157 (GRCm39) |
V693A |
probably damaging |
Het |
| Pigo |
A |
T |
4: 43,021,337 (GRCm39) |
L535Q |
probably damaging |
Het |
| Ppp1r12b |
G |
T |
1: 134,883,471 (GRCm39) |
A17E |
probably benign |
Het |
| Ptar1 |
G |
T |
19: 23,671,729 (GRCm39) |
R44L |
probably damaging |
Het |
| Rad51c |
T |
C |
11: 87,288,580 (GRCm39) |
H201R |
probably benign |
Het |
| Rims2 |
A |
T |
15: 39,381,265 (GRCm39) |
|
probably null |
Het |
| Rpl22l1 |
T |
G |
3: 28,860,985 (GRCm39) |
S67A |
possibly damaging |
Het |
| Rps10 |
A |
G |
17: 27,849,454 (GRCm39) |
S143P |
probably damaging |
Het |
| Rundc1 |
T |
C |
11: 101,315,967 (GRCm39) |
V13A |
probably benign |
Het |
| Sephs2 |
C |
A |
7: 126,872,564 (GRCm39) |
M176I |
probably benign |
Het |
| Serpina16 |
C |
T |
12: 103,641,189 (GRCm39) |
V179I |
probably benign |
Het |
| Serpini2 |
T |
A |
3: 75,166,784 (GRCm39) |
T158S |
probably damaging |
Het |
| Slc12a3 |
A |
G |
8: 95,072,979 (GRCm39) |
R701G |
probably damaging |
Het |
| Slc1a6 |
A |
G |
10: 78,650,436 (GRCm39) |
E558G |
probably damaging |
Het |
| Ssx2ip |
T |
C |
3: 146,136,672 (GRCm39) |
|
probably benign |
Het |
| Tbr1 |
A |
T |
2: 61,636,346 (GRCm39) |
I241F |
possibly damaging |
Het |
| Tgfa |
G |
C |
6: 86,247,064 (GRCm39) |
|
probably null |
Het |
| Tlr12 |
T |
A |
4: 128,511,063 (GRCm39) |
K396* |
probably null |
Het |
| Tmppe |
A |
G |
9: 114,235,026 (GRCm39) |
I442V |
probably benign |
Het |
| Tubb3 |
T |
C |
8: 124,147,607 (GRCm39) |
V180A |
probably damaging |
Het |
| Vmn1r222 |
A |
G |
13: 23,416,901 (GRCm39) |
V104A |
probably damaging |
Het |
| Zfp184 |
G |
T |
13: 22,143,452 (GRCm39) |
R386L |
possibly damaging |
Het |
| Zfp444 |
T |
A |
7: 6,192,792 (GRCm39) |
V270E |
probably damaging |
Het |
| Zfp985 |
A |
T |
4: 147,667,438 (GRCm39) |
Y102F |
probably damaging |
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 |
|
R0416:Vmn2r95
|
UTSW |
17 |
18,661,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- GATGTAAGGAGCTCAAGGAGTTTTG -3'
(R):5'- CTGTGCTTCACAAAGATGCC -3'
Sequencing Primer
(F):5'- CTCAAGGAGTTTTGAGTAAAGACTG -3'
(R):5'- TGTGCTTCACAAAGATGCCAATAAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation