Incidental Mutation 'R3949:Vmn2r99'
ID |
307839 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r99
|
Ensembl Gene |
ENSMUSG00000090304 |
Gene Name |
vomeronasal 2, receptor 99 |
Synonyms |
EG665376 |
MMRRC Submission |
040929-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.122)
|
Stock # |
R3949 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
19582397-19614852 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 19599252 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 312
(M312T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156067
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000176107]
[ENSMUST00000231989]
|
AlphaFold |
H3BK37 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000176107
AA Change: M312T
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000135236 Gene: ENSMUSG00000090304 AA Change: M312T
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
81 |
448 |
5.7e-33 |
PFAM |
Pfam:NCD3G
|
508 |
561 |
1.8e-21 |
PFAM |
Pfam:7tm_3
|
593 |
829 |
4.6e-52 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231989
AA Change: M312T
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
100% (47/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adarb2 |
A |
T |
13: 8,620,455 (GRCm39) |
M314L |
probably damaging |
Het |
Apcs |
A |
G |
1: 172,722,259 (GRCm39) |
F29S |
probably damaging |
Het |
Arfgef1 |
CAGAG |
CAG |
1: 10,212,811 (GRCm39) |
|
probably null |
Het |
Avl9 |
T |
C |
6: 56,705,650 (GRCm39) |
|
probably null |
Het |
Ccdc38 |
A |
G |
10: 93,386,081 (GRCm39) |
M66V |
probably damaging |
Het |
Cfap46 |
T |
C |
7: 139,258,467 (GRCm39) |
K269E |
probably benign |
Het |
Chrdl2 |
A |
C |
7: 99,678,412 (GRCm39) |
E328A |
possibly damaging |
Het |
D430041D05Rik |
T |
C |
2: 104,087,713 (GRCm39) |
N421S |
probably benign |
Het |
Dbndd1 |
G |
T |
8: 124,233,473 (GRCm39) |
Q207K |
probably benign |
Het |
Disc1 |
A |
G |
8: 125,814,874 (GRCm39) |
E246G |
probably damaging |
Het |
Dyrk4 |
A |
G |
6: 126,862,268 (GRCm39) |
I408T |
probably damaging |
Het |
Entpd7 |
G |
A |
19: 43,679,597 (GRCm39) |
R50Q |
probably benign |
Het |
Fan1 |
C |
A |
7: 64,021,292 (GRCm39) |
E591* |
probably null |
Het |
Fpr1 |
C |
A |
17: 18,097,191 (GRCm39) |
C266F |
probably benign |
Het |
Gata4 |
C |
T |
14: 63,478,146 (GRCm39) |
R151H |
possibly damaging |
Het |
Gipr |
T |
C |
7: 18,891,354 (GRCm39) |
N441S |
probably benign |
Het |
Ino80d |
G |
T |
1: 63,113,662 (GRCm39) |
Q263K |
probably benign |
Het |
Ipo13 |
A |
G |
4: 117,758,239 (GRCm39) |
I708T |
probably benign |
Het |
Iqsec3 |
A |
T |
6: 121,364,783 (GRCm39) |
Y835* |
probably null |
Het |
Kctd8 |
C |
T |
5: 69,498,617 (GRCm39) |
G10S |
probably benign |
Het |
Lamb1 |
A |
C |
12: 31,332,648 (GRCm39) |
K257Q |
probably damaging |
Het |
Lcp1 |
A |
G |
14: 75,443,569 (GRCm39) |
N195S |
possibly damaging |
Het |
Or4k48 |
A |
T |
2: 111,475,871 (GRCm39) |
I157K |
possibly damaging |
Het |
Or5b121 |
T |
C |
19: 13,507,384 (GRCm39) |
S160P |
probably damaging |
Het |
Paxbp1 |
T |
C |
16: 90,840,905 (GRCm39) |
D113G |
probably damaging |
Het |
Pcdhb7 |
T |
C |
18: 37,476,141 (GRCm39) |
S426P |
probably benign |
Het |
Pcnx4 |
A |
G |
12: 72,603,076 (GRCm39) |
D446G |
probably benign |
Het |
Pkd1 |
T |
A |
17: 24,797,011 (GRCm39) |
|
probably benign |
Het |
Pld2 |
A |
G |
11: 70,444,180 (GRCm39) |
D492G |
probably benign |
Het |
Ranbp17 |
G |
A |
11: 33,429,189 (GRCm39) |
A352V |
probably benign |
Het |
Rasgrf1 |
A |
C |
9: 89,863,797 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
Serpinb10 |
T |
A |
1: 107,468,636 (GRCm39) |
L170H |
probably damaging |
Het |
Sfxn4 |
A |
G |
19: 60,840,501 (GRCm39) |
Y165H |
probably damaging |
Het |
Slc32a1 |
C |
T |
2: 158,453,152 (GRCm39) |
|
probably benign |
Het |
Slco5a1 |
A |
T |
1: 13,059,833 (GRCm39) |
V296D |
probably damaging |
Het |
Syn2 |
T |
A |
6: 115,204,290 (GRCm39) |
|
probably null |
Het |
Tbx2 |
C |
T |
11: 85,729,101 (GRCm39) |
Q495* |
probably null |
Het |
Trav6-1 |
G |
A |
14: 52,875,993 (GRCm39) |
V8M |
probably benign |
Het |
Usp7 |
A |
T |
16: 8,534,428 (GRCm39) |
N46K |
probably damaging |
Het |
Vmn2r58 |
A |
T |
7: 41,513,348 (GRCm39) |
F432I |
probably benign |
Het |
Washc2 |
T |
C |
6: 116,185,165 (GRCm39) |
|
probably benign |
Het |
Yju2b |
A |
G |
8: 84,985,453 (GRCm39) |
V272A |
probably benign |
Het |
|
Other mutations in Vmn2r99 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00503:Vmn2r99
|
APN |
17 |
19,599,116 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01113:Vmn2r99
|
APN |
17 |
19,614,518 (GRCm39) |
missense |
probably benign |
0.20 |
IGL01138:Vmn2r99
|
APN |
17 |
19,602,885 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01646:Vmn2r99
|
APN |
17 |
19,613,920 (GRCm39) |
splice site |
probably benign |
|
IGL01769:Vmn2r99
|
APN |
17 |
19,600,377 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02112:Vmn2r99
|
APN |
17 |
19,600,494 (GRCm39) |
missense |
probably null |
0.99 |
IGL02891:Vmn2r99
|
APN |
17 |
19,598,952 (GRCm39) |
nonsense |
probably null |
|
IGL03132:Vmn2r99
|
APN |
17 |
19,598,485 (GRCm39) |
nonsense |
probably null |
|
FR4548:Vmn2r99
|
UTSW |
17 |
19,614,547 (GRCm39) |
missense |
probably damaging |
0.97 |
FR4976:Vmn2r99
|
UTSW |
17 |
19,614,547 (GRCm39) |
missense |
probably damaging |
0.97 |
PIT4382001:Vmn2r99
|
UTSW |
17 |
19,614,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R0196:Vmn2r99
|
UTSW |
17 |
19,614,835 (GRCm39) |
missense |
probably benign |
0.00 |
R0720:Vmn2r99
|
UTSW |
17 |
19,599,305 (GRCm39) |
missense |
probably benign |
0.00 |
R1501:Vmn2r99
|
UTSW |
17 |
19,582,521 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1519:Vmn2r99
|
UTSW |
17 |
19,600,322 (GRCm39) |
missense |
probably benign |
0.00 |
R1670:Vmn2r99
|
UTSW |
17 |
19,582,514 (GRCm39) |
missense |
probably benign |
0.37 |
R1682:Vmn2r99
|
UTSW |
17 |
19,598,207 (GRCm39) |
missense |
probably damaging |
0.97 |
R1873:Vmn2r99
|
UTSW |
17 |
19,582,415 (GRCm39) |
missense |
probably benign |
0.25 |
R1967:Vmn2r99
|
UTSW |
17 |
19,599,077 (GRCm39) |
missense |
probably benign |
0.01 |
R2101:Vmn2r99
|
UTSW |
17 |
19,598,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R2474:Vmn2r99
|
UTSW |
17 |
19,598,891 (GRCm39) |
missense |
probably benign |
0.04 |
R2519:Vmn2r99
|
UTSW |
17 |
19,598,970 (GRCm39) |
missense |
probably damaging |
0.99 |
R3911:Vmn2r99
|
UTSW |
17 |
19,614,635 (GRCm39) |
missense |
possibly damaging |
0.92 |
R3947:Vmn2r99
|
UTSW |
17 |
19,599,252 (GRCm39) |
missense |
probably benign |
0.40 |
R4016:Vmn2r99
|
UTSW |
17 |
19,598,832 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4413:Vmn2r99
|
UTSW |
17 |
19,599,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R4594:Vmn2r99
|
UTSW |
17 |
19,613,924 (GRCm39) |
missense |
probably damaging |
1.00 |
R4999:Vmn2r99
|
UTSW |
17 |
19,582,397 (GRCm39) |
start codon destroyed |
probably null |
0.96 |
R5206:Vmn2r99
|
UTSW |
17 |
19,598,868 (GRCm39) |
missense |
probably benign |
0.40 |
R5362:Vmn2r99
|
UTSW |
17 |
19,599,601 (GRCm39) |
missense |
probably benign |
0.00 |
R5377:Vmn2r99
|
UTSW |
17 |
19,599,531 (GRCm39) |
missense |
probably damaging |
1.00 |
R5455:Vmn2r99
|
UTSW |
17 |
19,614,408 (GRCm39) |
nonsense |
probably null |
|
R6021:Vmn2r99
|
UTSW |
17 |
19,598,210 (GRCm39) |
missense |
probably damaging |
1.00 |
R6059:Vmn2r99
|
UTSW |
17 |
19,599,242 (GRCm39) |
missense |
probably benign |
0.00 |
R6214:Vmn2r99
|
UTSW |
17 |
19,602,820 (GRCm39) |
missense |
probably benign |
0.19 |
R6215:Vmn2r99
|
UTSW |
17 |
19,602,820 (GRCm39) |
missense |
probably benign |
0.19 |
R6313:Vmn2r99
|
UTSW |
17 |
19,602,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R6646:Vmn2r99
|
UTSW |
17 |
19,600,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R6810:Vmn2r99
|
UTSW |
17 |
19,600,296 (GRCm39) |
missense |
probably benign |
0.20 |
R6885:Vmn2r99
|
UTSW |
17 |
19,600,457 (GRCm39) |
missense |
possibly damaging |
0.52 |
R6991:Vmn2r99
|
UTSW |
17 |
19,598,372 (GRCm39) |
missense |
probably benign |
0.03 |
R7060:Vmn2r99
|
UTSW |
17 |
19,614,826 (GRCm39) |
nonsense |
probably null |
|
R7090:Vmn2r99
|
UTSW |
17 |
19,613,972 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7094:Vmn2r99
|
UTSW |
17 |
19,599,573 (GRCm39) |
missense |
probably benign |
0.00 |
R7449:Vmn2r99
|
UTSW |
17 |
19,599,407 (GRCm39) |
missense |
probably benign |
0.01 |
R7789:Vmn2r99
|
UTSW |
17 |
19,614,079 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8039:Vmn2r99
|
UTSW |
17 |
19,600,302 (GRCm39) |
missense |
probably benign |
0.00 |
R8493:Vmn2r99
|
UTSW |
17 |
19,614,020 (GRCm39) |
missense |
probably benign |
0.15 |
R8511:Vmn2r99
|
UTSW |
17 |
19,614,443 (GRCm39) |
missense |
probably damaging |
1.00 |
R8715:Vmn2r99
|
UTSW |
17 |
19,613,922 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R9462:Vmn2r99
|
UTSW |
17 |
19,598,388 (GRCm39) |
nonsense |
probably null |
|
R9681:Vmn2r99
|
UTSW |
17 |
19,598,889 (GRCm39) |
missense |
probably damaging |
1.00 |
R9737:Vmn2r99
|
UTSW |
17 |
19,582,563 (GRCm39) |
missense |
probably benign |
|
Z1088:Vmn2r99
|
UTSW |
17 |
19,599,563 (GRCm39) |
missense |
probably benign |
0.18 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCACATGGACTTCATATTTTGC -3'
(R):5'- ACCCATCAAATATGTGACGAGG -3'
Sequencing Primer
(F):5'- TGCCAAATTCTGGGAAAATATGG -3'
(R):5'- CATCCAAAGAAGCATTGGTTTGACAG -3'
|
Posted On |
2015-04-17 |