Incidental Mutation 'R7509:Vmn2r96'
ID |
581995 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r96
|
Ensembl Gene |
ENSMUSG00000091679 |
Gene Name |
vomeronasal 2, receptor 96 |
Synonyms |
EG433070 |
MMRRC Submission |
045582-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.156)
|
Stock # |
R7509 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
18793282-18818419 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 18802995 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 302
(E302K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135095
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165692]
[ENSMUST00000177244]
[ENSMUST00000231261]
[ENSMUST00000231286]
|
AlphaFold |
E9PZU5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000165692
AA Change: E110K
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000131564 Gene: ENSMUSG00000091679 AA Change: E110K
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 |
probably benign
Transcript: ENSMUST00000177244
AA Change: E302K
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000135095 Gene: ENSMUSG00000091679 AA Change: E302K
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 |
probably benign
Transcript: ENSMUST00000231286
AA Change: E302K
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (75/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm5 |
A |
G |
7: 119,133,611 (GRCm39) |
S259G |
probably benign |
Het |
Adamts16 |
G |
T |
13: 70,935,283 (GRCm39) |
N436K |
probably damaging |
Het |
Asb3 |
T |
A |
11: 30,948,507 (GRCm39) |
M61K |
probably benign |
Het |
Catspere2 |
A |
G |
1: 177,905,078 (GRCm39) |
T163A |
possibly damaging |
Het |
Ccser2 |
A |
G |
14: 36,660,602 (GRCm39) |
L517P |
probably damaging |
Het |
Cd226 |
A |
G |
18: 89,265,195 (GRCm39) |
T158A |
probably benign |
Het |
Chd6 |
A |
T |
2: 160,855,074 (GRCm39) |
I778N |
probably damaging |
Het |
Cnga4 |
T |
C |
7: 105,056,097 (GRCm39) |
V336A |
probably benign |
Het |
Cpd |
C |
T |
11: 76,688,702 (GRCm39) |
V857I |
probably benign |
Het |
Cpm |
A |
G |
10: 117,495,745 (GRCm39) |
Y78C |
probably damaging |
Het |
Cst7 |
A |
T |
2: 150,419,624 (GRCm39) |
T97S |
probably benign |
Het |
Cttnbp2nl |
T |
C |
3: 104,940,046 (GRCm39) |
K8E |
possibly damaging |
Het |
Erbb4 |
A |
T |
1: 68,289,739 (GRCm39) |
D767E |
possibly damaging |
Het |
Esyt2 |
T |
C |
12: 116,329,496 (GRCm39) |
S685P |
probably damaging |
Het |
Fam110d |
A |
C |
4: 133,979,424 (GRCm39) |
V18G |
probably damaging |
Het |
Gcfc2 |
T |
C |
6: 81,930,256 (GRCm39) |
L641P |
probably damaging |
Het |
Gcnt4 |
T |
A |
13: 97,083,678 (GRCm39) |
F325I |
probably benign |
Het |
Glg1 |
T |
G |
8: 111,985,675 (GRCm39) |
S52R |
probably benign |
Het |
Gm10577 |
G |
A |
4: 100,877,848 (GRCm39) |
L16F |
unknown |
Het |
Gm14326 |
C |
T |
2: 177,587,493 (GRCm39) |
G501D |
probably benign |
Het |
Gm1587 |
G |
A |
14: 78,034,464 (GRCm39) |
P35S |
unknown |
Het |
Gpd1 |
G |
A |
15: 99,619,967 (GRCm39) |
S255N |
probably damaging |
Het |
Helb |
T |
A |
10: 119,925,719 (GRCm39) |
H886L |
probably damaging |
Het |
Hgsnat |
A |
G |
8: 26,445,754 (GRCm39) |
V380A |
probably damaging |
Het |
Hmbs |
T |
A |
9: 44,248,208 (GRCm39) |
R125S |
|
Het |
Hsd17b4 |
A |
T |
18: 50,297,749 (GRCm39) |
Y346F |
probably damaging |
Het |
Inpp4a |
T |
C |
1: 37,426,911 (GRCm39) |
L624P |
probably damaging |
Het |
Irak2 |
AC |
ACC |
6: 113,667,859 (GRCm39) |
|
probably null |
Het |
Itga11 |
C |
T |
9: 62,689,222 (GRCm39) |
T1129I |
probably benign |
Het |
Itih4 |
G |
A |
14: 30,617,404 (GRCm39) |
V575I |
probably benign |
Het |
Kcnn2 |
A |
G |
18: 45,816,187 (GRCm39) |
T473A |
probably benign |
Het |
Kidins220 |
T |
C |
12: 25,032,360 (GRCm39) |
V31A |
probably damaging |
Het |
Lrch1 |
G |
A |
14: 75,185,048 (GRCm39) |
T18I |
probably benign |
Het |
Ly6e |
T |
C |
15: 74,830,135 (GRCm39) |
F30L |
probably damaging |
Het |
Med13l |
A |
G |
5: 118,886,995 (GRCm39) |
D1632G |
probably damaging |
Het |
Mei4 |
T |
A |
9: 81,907,630 (GRCm39) |
L320Q |
probably damaging |
Het |
Mlip |
T |
G |
9: 77,088,678 (GRCm39) |
T197P |
probably damaging |
Het |
Mon2 |
G |
A |
10: 122,868,457 (GRCm39) |
A532V |
probably benign |
Het |
Myh1 |
C |
T |
11: 67,101,287 (GRCm39) |
P688S |
probably benign |
Het |
Ncapg |
G |
A |
5: 45,853,450 (GRCm39) |
D900N |
probably benign |
Het |
Neurl1b |
C |
G |
17: 26,657,720 (GRCm39) |
H219Q |
probably benign |
Het |
Ntn4 |
A |
G |
10: 93,546,430 (GRCm39) |
N361S |
probably benign |
Het |
Nudt16l1 |
T |
A |
16: 4,757,082 (GRCm39) |
H26Q |
probably damaging |
Het |
Obscn |
G |
A |
11: 58,942,455 (GRCm39) |
T4348I |
probably benign |
Het |
Or10d4b |
T |
A |
9: 39,534,623 (GRCm39) |
I66N |
probably damaging |
Het |
Or8c20 |
T |
A |
9: 38,260,868 (GRCm39) |
M157K |
probably benign |
Het |
Pcdh7 |
T |
A |
5: 57,877,529 (GRCm39) |
D361E |
probably damaging |
Het |
Pcdhb7 |
C |
A |
18: 37,475,074 (GRCm39) |
T70K |
possibly damaging |
Het |
Pcdhga3 |
T |
A |
18: 37,808,910 (GRCm39) |
Y454* |
probably null |
Het |
Pigc |
A |
T |
1: 161,798,545 (GRCm39) |
T176S |
probably benign |
Het |
Pola2 |
A |
T |
19: 6,011,194 (GRCm39) |
S43R |
probably benign |
Het |
Pole |
A |
T |
5: 110,478,571 (GRCm39) |
|
probably benign |
Het |
Polq |
C |
A |
16: 36,880,705 (GRCm39) |
D956E |
probably benign |
Het |
Polq |
T |
A |
16: 36,880,706 (GRCm39) |
C957S |
probably benign |
Het |
Ppp3cc |
G |
A |
14: 70,504,131 (GRCm39) |
T107I |
probably damaging |
Het |
Prss39 |
C |
A |
1: 34,539,280 (GRCm39) |
H173Q |
possibly damaging |
Het |
Reep4 |
A |
G |
14: 70,785,928 (GRCm39) |
D256G |
probably benign |
Het |
Rfc3 |
A |
G |
5: 151,570,975 (GRCm39) |
V107A |
probably damaging |
Het |
Slc19a3 |
A |
G |
1: 83,003,981 (GRCm39) |
L40P |
probably damaging |
Het |
Slc29a4 |
C |
T |
5: 142,704,261 (GRCm39) |
P305L |
probably benign |
Het |
Strada |
C |
A |
11: 106,077,920 (GRCm39) |
V15F |
unknown |
Het |
Suco |
A |
T |
1: 161,672,903 (GRCm39) |
S440T |
probably damaging |
Het |
Svep1 |
A |
T |
4: 58,090,683 (GRCm39) |
C1595S |
probably benign |
Het |
Synpo |
G |
T |
18: 60,736,566 (GRCm39) |
T460K |
probably damaging |
Het |
Tagap |
A |
T |
17: 8,147,568 (GRCm39) |
I93F |
probably damaging |
Het |
Tmtc3 |
A |
T |
10: 100,301,956 (GRCm39) |
F331Y |
probably damaging |
Het |
Tnpo1 |
A |
C |
13: 99,006,751 (GRCm39) |
I225M |
probably benign |
Het |
Tollip |
A |
T |
7: 141,445,878 (GRCm39) |
M70K |
probably benign |
Het |
Trpm7 |
A |
T |
2: 126,691,842 (GRCm39) |
I171N |
probably damaging |
Het |
Ttc41 |
G |
T |
10: 86,549,296 (GRCm39) |
E163D |
probably damaging |
Het |
Vmn2r17 |
A |
T |
5: 109,575,695 (GRCm39) |
T189S |
probably benign |
Het |
Vmn2r20 |
C |
T |
6: 123,362,382 (GRCm39) |
V801I |
probably benign |
Het |
Vmn2r82 |
G |
A |
10: 79,231,842 (GRCm39) |
V614I |
possibly damaging |
Het |
Vwf |
T |
C |
6: 125,619,132 (GRCm39) |
F1270S |
|
Het |
Wdr3 |
A |
T |
3: 100,058,503 (GRCm39) |
F367L |
probably benign |
Het |
Zfp592 |
A |
G |
7: 80,688,088 (GRCm39) |
S1005G |
probably 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 |
|
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 |
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'- TGGAGAGAAATGGCATCTGC -3'
(R):5'- GGTTTGACAGTTTTCCAACACATGAC -3'
Sequencing Primer
(F):5'- GCCTAGCTTTTGTAAAAATGACCCC -3'
(R):5'- GTTTTCCAACACATGACAATTAGTG -3'
|
Posted On |
2019-10-17 |