Incidental Mutation 'R7149:Vmn2r96'
ID |
554032 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r96
|
Ensembl Gene |
ENSMUSG00000091679 |
Gene Name |
vomeronasal 2, receptor 96 |
Synonyms |
EG433070 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.157)
|
Stock # |
R7149 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
18793282-18818419 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 18817989 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 714
(M714K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135095
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165692]
[ENSMUST00000177244]
[ENSMUST00000231261]
[ENSMUST00000231286]
|
AlphaFold |
E9PZU5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165692
AA Change: M522K
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000131564 Gene: ENSMUSG00000091679 AA Change: M522K
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
1 |
257 |
8.6e-20 |
PFAM |
Pfam:NCD3G
|
317 |
370 |
3.7e-22 |
PFAM |
Pfam:7tm_3
|
402 |
638 |
3.9e-53 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177244
AA Change: M714K
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000135095 Gene: ENSMUSG00000091679 AA Change: M714K
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
1 |
245 |
4.2e-19 |
PFAM |
Pfam:NCD3G
|
317 |
370 |
6.9e-21 |
PFAM |
Pfam:7tm_3
|
400 |
639 |
3.4e-75 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231261
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231286
AA Change: M714K
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acly |
A |
C |
11: 100,375,451 (GRCm39) |
F790V |
probably damaging |
Het |
Atf4 |
AAGCGGGCTGAGC |
AAGC |
15: 80,141,500 (GRCm39) |
|
probably benign |
Het |
Brd8 |
C |
T |
18: 34,737,650 (GRCm39) |
|
probably null |
Het |
Bsn |
A |
T |
9: 107,993,520 (GRCm39) |
L744* |
probably null |
Het |
Capn9 |
A |
G |
8: 125,332,448 (GRCm39) |
D429G |
probably benign |
Het |
CK137956 |
A |
T |
4: 127,864,626 (GRCm39) |
M1K |
probably null |
Het |
Cnot6 |
G |
A |
11: 49,570,970 (GRCm39) |
P341S |
probably benign |
Het |
Cracdl |
G |
A |
1: 37,651,352 (GRCm39) |
Q1172* |
probably null |
Het |
Dld |
T |
G |
12: 31,385,589 (GRCm39) |
I251L |
probably benign |
Het |
Dlg5 |
T |
C |
14: 24,240,492 (GRCm39) |
K253R |
probably benign |
Het |
Dnmt3a |
C |
T |
12: 3,952,397 (GRCm39) |
P696L |
probably damaging |
Het |
Dph1 |
T |
C |
11: 75,070,001 (GRCm39) |
K409E |
probably benign |
Het |
Dsg2 |
T |
C |
18: 20,712,511 (GRCm39) |
S172P |
probably damaging |
Het |
Gm1979 |
T |
C |
5: 26,206,945 (GRCm39) |
N136S |
probably benign |
Het |
Gm2663 |
A |
T |
6: 40,974,891 (GRCm39) |
L60Q |
probably damaging |
Het |
Hdac10 |
A |
G |
15: 89,011,652 (GRCm39) |
F144S |
probably damaging |
Het |
Ifi203 |
T |
C |
1: 173,756,494 (GRCm39) |
T430A |
unknown |
Het |
Itgb2l |
T |
C |
16: 96,234,759 (GRCm39) |
D244G |
probably damaging |
Het |
Klk1b9 |
A |
T |
7: 43,628,841 (GRCm39) |
Y115F |
probably benign |
Het |
Llcfc1 |
C |
A |
6: 41,662,251 (GRCm39) |
A85E |
possibly damaging |
Het |
Lrp1b |
C |
T |
2: 40,527,872 (GRCm39) |
V4330M |
|
Het |
Map3k13 |
A |
G |
16: 21,744,187 (GRCm39) |
E811G |
probably benign |
Het |
Myl6b |
A |
G |
10: 128,333,068 (GRCm39) |
|
probably null |
Het |
Myo15a |
G |
A |
11: 60,400,836 (GRCm39) |
A2997T |
possibly damaging |
Het |
Nalcn |
T |
C |
14: 123,837,277 (GRCm39) |
D29G |
probably benign |
Het |
Nepro |
T |
A |
16: 44,550,078 (GRCm39) |
|
probably null |
Het |
Nlrp1b |
T |
A |
11: 71,072,482 (GRCm39) |
R454* |
probably null |
Het |
Nlrp4a |
T |
C |
7: 26,149,863 (GRCm39) |
V490A |
probably benign |
Het |
Or1e1f |
G |
A |
11: 73,856,257 (GRCm39) |
M274I |
probably benign |
Het |
Or2l13 |
T |
C |
16: 19,306,260 (GRCm39) |
V224A |
probably damaging |
Het |
Pde8b |
T |
G |
13: 95,223,349 (GRCm39) |
M197L |
probably benign |
Het |
Phldb2 |
T |
A |
16: 45,571,895 (GRCm39) |
K1166* |
probably null |
Het |
Plekhm1 |
A |
G |
11: 103,285,742 (GRCm39) |
I231T |
probably damaging |
Het |
Ppp6r2 |
T |
C |
15: 89,146,599 (GRCm39) |
I199T |
probably damaging |
Het |
Ptch1 |
G |
T |
13: 63,659,550 (GRCm39) |
H1368N |
probably benign |
Het |
Ptprj |
T |
A |
2: 90,274,790 (GRCm39) |
T1191S |
possibly damaging |
Het |
Rapgef1 |
T |
C |
2: 29,610,712 (GRCm39) |
S748P |
probably damaging |
Het |
Rigi |
T |
C |
4: 40,222,079 (GRCm39) |
D445G |
possibly damaging |
Het |
Rnmt |
T |
C |
18: 68,452,222 (GRCm39) |
S420P |
probably damaging |
Het |
Sgms2 |
A |
G |
3: 131,129,908 (GRCm39) |
F160S |
possibly damaging |
Het |
Sim1 |
G |
T |
10: 50,785,636 (GRCm39) |
R235L |
probably damaging |
Het |
Slco1a7 |
A |
G |
6: 141,690,178 (GRCm39) |
S192P |
probably damaging |
Het |
Smarcad1 |
T |
A |
6: 65,029,716 (GRCm39) |
D101E |
probably benign |
Het |
Smarcc2 |
G |
A |
10: 128,318,598 (GRCm39) |
V627M |
probably damaging |
Het |
Supt20 |
G |
A |
3: 54,635,832 (GRCm39) |
R241H |
unknown |
Het |
Tagln2 |
T |
A |
1: 172,333,386 (GRCm39) |
I80N |
probably damaging |
Het |
Tmod2 |
G |
A |
9: 75,489,167 (GRCm39) |
T226I |
possibly damaging |
Het |
Vmn2r80 |
A |
T |
10: 79,030,654 (GRCm39) |
I827F |
probably benign |
Het |
Vps8 |
C |
A |
16: 21,278,526 (GRCm39) |
D261E |
probably damaging |
Het |
Yeats2 |
C |
A |
16: 19,972,939 (GRCm39) |
A31E |
probably damaging |
Het |
Zfp451 |
C |
T |
1: 33,816,405 (GRCm39) |
R515Q |
probably damaging |
Het |
Zfp553 |
A |
G |
7: 126,835,605 (GRCm39) |
S387G |
possibly damaging |
Het |
|
Other mutations in Vmn2r96 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00562:Vmn2r96
|
APN |
17 |
18,804,077 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00563:Vmn2r96
|
APN |
17 |
18,804,077 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00769:Vmn2r96
|
APN |
17 |
18,804,081 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01314:Vmn2r96
|
APN |
17 |
18,803,226 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01983:Vmn2r96
|
APN |
17 |
18,817,527 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02314:Vmn2r96
|
APN |
17 |
18,804,221 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02600:Vmn2r96
|
APN |
17 |
18,817,829 (GRCm39) |
missense |
probably benign |
|
IGL02672:Vmn2r96
|
APN |
17 |
18,818,376 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02750:Vmn2r96
|
APN |
17 |
18,802,851 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03068:Vmn2r96
|
APN |
17 |
18,803,137 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03411:Vmn2r96
|
APN |
17 |
18,806,634 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0316:Vmn2r96
|
UTSW |
17 |
18,802,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R0502:Vmn2r96
|
UTSW |
17 |
18,804,262 (GRCm39) |
missense |
probably benign |
|
R0580:Vmn2r96
|
UTSW |
17 |
18,802,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R0652:Vmn2r96
|
UTSW |
17 |
18,817,830 (GRCm39) |
missense |
probably benign |
0.05 |
R0789:Vmn2r96
|
UTSW |
17 |
18,802,738 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1462:Vmn2r96
|
UTSW |
17 |
18,817,660 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1462:Vmn2r96
|
UTSW |
17 |
18,817,660 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1660:Vmn2r96
|
UTSW |
17 |
18,817,988 (GRCm39) |
missense |
probably benign |
0.00 |
R1755:Vmn2r96
|
UTSW |
17 |
18,802,915 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1843:Vmn2r96
|
UTSW |
17 |
18,818,183 (GRCm39) |
missense |
probably benign |
0.14 |
R1943:Vmn2r96
|
UTSW |
17 |
18,806,664 (GRCm39) |
missense |
probably benign |
0.09 |
R1993:Vmn2r96
|
UTSW |
17 |
18,804,138 (GRCm39) |
missense |
probably damaging |
1.00 |
R2018:Vmn2r96
|
UTSW |
17 |
18,804,263 (GRCm39) |
missense |
probably benign |
|
R2405:Vmn2r96
|
UTSW |
17 |
18,818,102 (GRCm39) |
missense |
probably damaging |
0.96 |
R3977:Vmn2r96
|
UTSW |
17 |
18,817,941 (GRCm39) |
missense |
probably damaging |
1.00 |
R3979:Vmn2r96
|
UTSW |
17 |
18,817,941 (GRCm39) |
missense |
probably damaging |
1.00 |
R4059:Vmn2r96
|
UTSW |
17 |
18,818,339 (GRCm39) |
missense |
probably benign |
0.20 |
R4693:Vmn2r96
|
UTSW |
17 |
18,803,270 (GRCm39) |
missense |
probably benign |
0.03 |
R4709:Vmn2r96
|
UTSW |
17 |
18,803,088 (GRCm39) |
missense |
probably benign |
0.36 |
R4776:Vmn2r96
|
UTSW |
17 |
18,817,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R4882:Vmn2r96
|
UTSW |
17 |
18,817,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R4920:Vmn2r96
|
UTSW |
17 |
18,802,918 (GRCm39) |
missense |
probably benign |
0.07 |
R5143:Vmn2r96
|
UTSW |
17 |
18,804,120 (GRCm39) |
missense |
possibly damaging |
0.65 |
R5301:Vmn2r96
|
UTSW |
17 |
18,817,950 (GRCm39) |
missense |
probably damaging |
0.98 |
R5507:Vmn2r96
|
UTSW |
17 |
18,818,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R6151:Vmn2r96
|
UTSW |
17 |
18,804,221 (GRCm39) |
missense |
probably benign |
0.01 |
R6181:Vmn2r96
|
UTSW |
17 |
18,804,126 (GRCm39) |
missense |
probably benign |
|
R6339:Vmn2r96
|
UTSW |
17 |
18,804,124 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6404:Vmn2r96
|
UTSW |
17 |
18,817,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R6452:Vmn2r96
|
UTSW |
17 |
18,804,117 (GRCm39) |
missense |
probably benign |
0.07 |
R6749:Vmn2r96
|
UTSW |
17 |
18,818,352 (GRCm39) |
missense |
probably damaging |
0.99 |
R6813:Vmn2r96
|
UTSW |
17 |
18,802,116 (GRCm39) |
missense |
probably benign |
0.04 |
R6851:Vmn2r96
|
UTSW |
17 |
18,802,800 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6944:Vmn2r96
|
UTSW |
17 |
18,817,891 (GRCm39) |
missense |
probably benign |
0.16 |
R6949:Vmn2r96
|
UTSW |
17 |
18,818,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R6962:Vmn2r96
|
UTSW |
17 |
18,818,283 (GRCm39) |
missense |
probably damaging |
0.99 |
R6990:Vmn2r96
|
UTSW |
17 |
18,804,082 (GRCm39) |
missense |
probably benign |
|
R7346:Vmn2r96
|
UTSW |
17 |
18,803,029 (GRCm39) |
missense |
probably benign |
0.15 |
R7385:Vmn2r96
|
UTSW |
17 |
18,803,302 (GRCm39) |
missense |
probably damaging |
1.00 |
R7442:Vmn2r96
|
UTSW |
17 |
18,793,662 (GRCm39) |
missense |
probably benign |
0.02 |
R7509:Vmn2r96
|
UTSW |
17 |
18,802,995 (GRCm39) |
missense |
probably benign |
0.02 |
R7652:Vmn2r96
|
UTSW |
17 |
18,793,832 (GRCm39) |
missense |
probably benign |
|
R7659:Vmn2r96
|
UTSW |
17 |
18,793,749 (GRCm39) |
missense |
probably benign |
0.00 |
R7753:Vmn2r96
|
UTSW |
17 |
18,806,663 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7855:Vmn2r96
|
UTSW |
17 |
18,818,130 (GRCm39) |
missense |
possibly damaging |
0.59 |
R8166:Vmn2r96
|
UTSW |
17 |
18,802,744 (GRCm39) |
missense |
probably damaging |
1.00 |
R8260:Vmn2r96
|
UTSW |
17 |
18,804,243 (GRCm39) |
missense |
probably benign |
0.04 |
R8323:Vmn2r96
|
UTSW |
17 |
18,803,023 (GRCm39) |
missense |
probably damaging |
0.99 |
R8787:Vmn2r96
|
UTSW |
17 |
18,818,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R8837:Vmn2r96
|
UTSW |
17 |
18,802,888 (GRCm39) |
missense |
probably benign |
|
R8933:Vmn2r96
|
UTSW |
17 |
18,804,241 (GRCm39) |
missense |
probably benign |
0.11 |
R9306:Vmn2r96
|
UTSW |
17 |
18,803,226 (GRCm39) |
missense |
probably benign |
0.00 |
R9481:Vmn2r96
|
UTSW |
17 |
18,793,621 (GRCm39) |
start gained |
probably benign |
|
R9626:Vmn2r96
|
UTSW |
17 |
18,793,758 (GRCm39) |
missense |
probably benign |
0.14 |
R9629:Vmn2r96
|
UTSW |
17 |
18,803,257 (GRCm39) |
missense |
probably benign |
0.15 |
Z1088:Vmn2r96
|
UTSW |
17 |
18,817,628 (GRCm39) |
missense |
possibly damaging |
0.86 |
Z1177:Vmn2r96
|
UTSW |
17 |
18,818,376 (GRCm39) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCCAGCAGACCACATTTGC -3'
(R):5'- ATGGCTACCATGACCTTCCC -3'
Sequencing Primer
(F):5'- GCAGACCACATTTGCAGTTG -3'
(R):5'- CCCTTTAGTGCTGTGGTAGAC -3'
|
Posted On |
2019-05-15 |