Incidental Mutation 'R0789:Vmn2r96'
ID |
76417 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r96
|
Ensembl Gene |
ENSMUSG00000091679 |
Gene Name |
vomeronasal 2, receptor 96 |
Synonyms |
EG433070 |
MMRRC Submission |
038969-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.156)
|
Stock # |
R0789 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
18793282-18818419 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 18802738 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 216
(V216A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156012
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165692]
[ENSMUST00000177244]
[ENSMUST00000231261]
[ENSMUST00000231286]
|
AlphaFold |
E9PZU5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165692
AA Change: V24A
PolyPhen 2
Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000131564 Gene: ENSMUSG00000091679 AA Change: V24A
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: V216A
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000135095 Gene: ENSMUSG00000091679 AA Change: V216A
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: V216A
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 96.7%
- 20x: 91.7%
|
Validation Efficiency |
98% (45/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asb10 |
T |
C |
5: 24,744,862 (GRCm39) |
T111A |
probably damaging |
Het |
BC024139 |
T |
C |
15: 76,005,283 (GRCm39) |
I526M |
possibly damaging |
Het |
Cacnb4 |
C |
T |
2: 52,341,895 (GRCm39) |
V335I |
probably damaging |
Het |
Ccdc33 |
C |
T |
9: 58,024,497 (GRCm39) |
|
probably benign |
Het |
Cfap58 |
T |
G |
19: 47,943,748 (GRCm39) |
I316S |
probably benign |
Het |
Chpf |
A |
T |
1: 75,452,407 (GRCm39) |
L349Q |
probably damaging |
Het |
Cntnap1 |
A |
G |
11: 101,072,210 (GRCm39) |
|
probably benign |
Het |
Col4a4 |
G |
A |
1: 82,502,717 (GRCm39) |
P356S |
unknown |
Het |
Dnah1 |
T |
C |
14: 31,026,548 (GRCm39) |
I777V |
probably benign |
Het |
Dnah11 |
A |
G |
12: 117,874,967 (GRCm39) |
V3966A |
probably damaging |
Het |
Fbxo38 |
G |
A |
18: 62,648,570 (GRCm39) |
S656F |
possibly damaging |
Het |
Fgf10 |
T |
A |
13: 118,925,741 (GRCm39) |
N173K |
probably benign |
Het |
Flt1 |
C |
T |
5: 147,576,293 (GRCm39) |
E572K |
probably damaging |
Het |
Gabra6 |
C |
A |
11: 42,205,844 (GRCm39) |
R336S |
probably benign |
Het |
Glt8d2 |
T |
C |
10: 82,500,519 (GRCm39) |
N77S |
probably damaging |
Het |
Grem1 |
C |
A |
2: 113,580,056 (GRCm39) |
K148N |
probably benign |
Het |
Hat1 |
G |
A |
2: 71,252,088 (GRCm39) |
|
probably benign |
Het |
Hydin |
A |
T |
8: 111,293,603 (GRCm39) |
I3517F |
possibly damaging |
Het |
Immt |
A |
G |
6: 71,838,051 (GRCm39) |
K253R |
probably damaging |
Het |
Klk1b8 |
A |
C |
7: 43,595,151 (GRCm39) |
|
probably benign |
Het |
Krt39 |
T |
C |
11: 99,411,888 (GRCm39) |
Y66C |
probably benign |
Het |
Mrgprb1 |
T |
C |
7: 48,105,932 (GRCm39) |
|
probably benign |
Het |
Nrp2 |
A |
G |
1: 62,784,609 (GRCm39) |
M253V |
probably benign |
Het |
Omt2b |
G |
T |
9: 78,235,447 (GRCm39) |
|
probably benign |
Het |
Or5as1 |
T |
C |
2: 86,980,171 (GRCm39) |
Y278C |
probably damaging |
Het |
Or7g32 |
C |
A |
9: 19,408,458 (GRCm39) |
P138H |
possibly damaging |
Het |
Pcdh20 |
T |
C |
14: 88,706,226 (GRCm39) |
Y358C |
probably damaging |
Het |
Pik3r4 |
T |
C |
9: 105,562,366 (GRCm39) |
M1215T |
probably benign |
Het |
Polr1has |
T |
C |
17: 37,275,852 (GRCm39) |
Y145H |
probably damaging |
Het |
Rasal2 |
T |
C |
1: 156,984,891 (GRCm39) |
E927G |
probably damaging |
Het |
Ryr3 |
A |
G |
2: 112,611,318 (GRCm39) |
|
probably null |
Het |
Scaf8 |
T |
C |
17: 3,247,112 (GRCm39) |
C812R |
possibly damaging |
Het |
Scart2 |
G |
T |
7: 139,828,133 (GRCm39) |
G114W |
probably damaging |
Het |
Smpd4 |
T |
C |
16: 17,443,690 (GRCm39) |
V78A |
probably benign |
Het |
Sp2 |
A |
T |
11: 96,852,202 (GRCm39) |
S241T |
probably benign |
Het |
Tsga10 |
A |
T |
1: 37,840,868 (GRCm39) |
I446N |
possibly damaging |
Het |
Ubr4 |
G |
A |
4: 139,137,582 (GRCm39) |
|
probably null |
Het |
Usp44 |
T |
C |
10: 93,683,082 (GRCm39) |
|
probably benign |
Het |
Usp54 |
A |
T |
14: 20,612,225 (GRCm39) |
S864T |
probably benign |
Het |
Vmn2r56 |
A |
G |
7: 12,466,762 (GRCm39) |
Y91H |
probably damaging |
Het |
Wdr17 |
A |
T |
8: 55,112,607 (GRCm39) |
|
probably benign |
Het |
Zmym6 |
A |
G |
4: 127,016,615 (GRCm39) |
T799A |
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 |
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 |
|
R7149:Vmn2r96
|
UTSW |
17 |
18,817,989 (GRCm39) |
missense |
possibly damaging |
0.89 |
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'- GCCAGGTGAGTCTTGAAACTTAGAGG -3'
(R):5'- AGCATTGGTTTGACAGTTTTCCAACAC -3'
Sequencing Primer
(F):5'- ATGTCTGTTTCAAATATTCTCCTGTC -3'
(R):5'- GTGCTTAAAAATGAGGCTCCC -3'
|
Posted On |
2013-10-16 |