Incidental Mutation 'R6813:Vmn2r96'
ID |
533982 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r96
|
Ensembl Gene |
ENSMUSG00000091679 |
Gene Name |
vomeronasal 2, receptor 96 |
Synonyms |
EG433070 |
MMRRC Submission |
044925-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.157)
|
Stock # |
R6813 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
18793282-18818419 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 18802116 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 119
(H119R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156012
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165692]
[ENSMUST00000177244]
[ENSMUST00000231261]
[ENSMUST00000231286]
|
AlphaFold |
E9PZU5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000165692
|
SMART Domains |
Protein: ENSMUSP00000131564 Gene: ENSMUSG00000091679
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: H119R
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000135095 Gene: ENSMUSG00000091679 AA Change: H119R
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: H119R
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 96.9%
|
Validation Efficiency |
100% (61/61) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb2 |
C |
A |
4: 129,903,284 (GRCm39) |
Q603K |
probably damaging |
Het |
Adgrf3 |
A |
G |
5: 30,402,519 (GRCm39) |
F503S |
probably damaging |
Het |
Arfgap3 |
A |
T |
15: 83,214,794 (GRCm39) |
M164K |
probably benign |
Het |
Asb13 |
G |
T |
13: 3,695,029 (GRCm39) |
V166F |
probably damaging |
Het |
Atm |
T |
G |
9: 53,408,535 (GRCm39) |
R1103S |
probably benign |
Het |
Atxn7l1 |
T |
C |
12: 33,417,123 (GRCm39) |
I626T |
probably damaging |
Het |
Brsk2 |
A |
G |
7: 141,556,214 (GRCm39) |
I649V |
probably benign |
Het |
Ccdc25 |
T |
A |
14: 66,093,882 (GRCm39) |
M85K |
probably benign |
Het |
Cdc42bpb |
A |
G |
12: 111,294,049 (GRCm39) |
V231A |
probably damaging |
Het |
Clstn3 |
T |
A |
6: 124,413,894 (GRCm39) |
M767L |
probably benign |
Het |
Col6a6 |
C |
T |
9: 105,661,140 (GRCm39) |
R323K |
probably benign |
Het |
Cplane1 |
T |
A |
15: 8,258,766 (GRCm39) |
N2337K |
probably benign |
Het |
Creld1 |
A |
G |
6: 113,466,530 (GRCm39) |
Y199C |
probably damaging |
Het |
Csf1r |
T |
A |
18: 61,245,806 (GRCm39) |
D254E |
probably benign |
Het |
Dab2ip |
C |
T |
2: 35,620,485 (GRCm39) |
Q1118* |
probably null |
Het |
Dcun1d4 |
C |
A |
5: 73,678,300 (GRCm39) |
S98R |
possibly damaging |
Het |
Disp3 |
G |
A |
4: 148,344,387 (GRCm39) |
P505L |
probably benign |
Het |
Dlec1 |
A |
T |
9: 118,941,170 (GRCm39) |
Q240L |
probably benign |
Het |
Dnai4 |
T |
C |
4: 102,905,523 (GRCm39) |
K753E |
probably benign |
Het |
Edil3 |
T |
A |
13: 89,437,575 (GRCm39) |
I392N |
probably damaging |
Het |
Epha10 |
T |
A |
4: 124,796,486 (GRCm39) |
S398R |
|
Het |
Ephb1 |
A |
G |
9: 101,887,247 (GRCm39) |
I464T |
possibly damaging |
Het |
Eps15 |
T |
A |
4: 109,137,599 (GRCm39) |
|
probably null |
Het |
Fam111a |
T |
A |
19: 12,564,706 (GRCm39) |
C152S |
probably damaging |
Het |
Flt3 |
T |
C |
5: 147,291,653 (GRCm39) |
E599G |
probably damaging |
Het |
Frmd3 |
T |
C |
4: 74,077,482 (GRCm39) |
S259P |
probably benign |
Het |
Hsfy2 |
A |
G |
1: 56,675,461 (GRCm39) |
Y359H |
possibly damaging |
Het |
Ifih1 |
C |
T |
2: 62,476,037 (GRCm39) |
V80M |
possibly damaging |
Het |
Il12rb2 |
A |
C |
6: 67,269,358 (GRCm39) |
D818E |
probably damaging |
Het |
Il4i1 |
A |
G |
7: 44,489,236 (GRCm39) |
T334A |
probably benign |
Het |
Irs2 |
G |
A |
8: 11,054,659 (GRCm39) |
Q1258* |
probably null |
Het |
Lsm1 |
T |
G |
8: 26,283,721 (GRCm39) |
H44Q |
probably benign |
Het |
Mgam |
A |
T |
6: 40,727,099 (GRCm39) |
M1257L |
probably damaging |
Het |
Myc |
T |
C |
15: 61,860,001 (GRCm39) |
S225P |
probably damaging |
Het |
Myh1 |
T |
C |
11: 67,111,286 (GRCm39) |
V1575A |
probably benign |
Het |
Myo9b |
A |
G |
8: 71,775,949 (GRCm39) |
D380G |
probably damaging |
Het |
Ncoa7 |
T |
A |
10: 30,572,188 (GRCm39) |
D157V |
probably damaging |
Het |
Or10g9b |
T |
A |
9: 39,917,753 (GRCm39) |
H164L |
probably benign |
Het |
Or2t44 |
G |
T |
11: 58,677,472 (GRCm39) |
Q137H |
probably benign |
Het |
Or7g16 |
G |
A |
9: 18,727,188 (GRCm39) |
T134M |
probably benign |
Het |
Or8b36 |
T |
C |
9: 37,937,129 (GRCm39) |
V9A |
probably damaging |
Het |
Or8b9 |
A |
C |
9: 37,766,810 (GRCm39) |
E232A |
possibly damaging |
Het |
Pccb |
A |
G |
9: 100,905,268 (GRCm39) |
V117A |
probably damaging |
Het |
Pdp2 |
C |
T |
8: 105,321,131 (GRCm39) |
H327Y |
probably damaging |
Het |
Pdzph1 |
G |
T |
17: 59,281,431 (GRCm39) |
Q284K |
probably benign |
Het |
Phka2 |
G |
A |
X: 159,316,044 (GRCm39) |
V230I |
probably damaging |
Het |
Phldb1 |
A |
T |
9: 44,610,865 (GRCm39) |
S751R |
probably damaging |
Het |
Pira1 |
T |
C |
7: 3,739,002 (GRCm39) |
H535R |
probably benign |
Het |
Ppp1r1b |
T |
A |
11: 98,240,002 (GRCm39) |
|
probably null |
Het |
Ppp1r3a |
A |
G |
6: 14,719,570 (GRCm39) |
V448A |
probably benign |
Het |
Pvrig-ps |
A |
T |
5: 138,340,312 (GRCm39) |
T28S |
probably benign |
Het |
Rasgrf1 |
G |
A |
9: 89,892,537 (GRCm39) |
|
probably null |
Het |
Scnn1g |
T |
C |
7: 121,339,576 (GRCm39) |
L125S |
probably damaging |
Het |
Slc30a7 |
A |
T |
3: 115,775,460 (GRCm39) |
D221E |
probably benign |
Het |
Spata31e1 |
T |
A |
13: 49,940,872 (GRCm39) |
R279S |
probably benign |
Het |
Tmem30c |
A |
G |
16: 57,101,622 (GRCm39) |
|
probably null |
Het |
Tmem33 |
T |
C |
5: 67,421,802 (GRCm39) |
|
probably null |
Het |
Ttc29 |
A |
T |
8: 79,060,249 (GRCm39) |
T390S |
probably benign |
Het |
Vamp5 |
G |
A |
6: 72,357,424 (GRCm39) |
|
probably benign |
Het |
Vmn2r81 |
T |
A |
10: 79,104,439 (GRCm39) |
F354Y |
probably benign |
Het |
Wdr3 |
G |
A |
3: 100,046,041 (GRCm39) |
R931* |
probably null |
Het |
Wtap |
A |
T |
17: 13,186,397 (GRCm39) |
N383K |
probably damaging |
Het |
Zfp808 |
T |
C |
13: 62,320,849 (GRCm39) |
Y693H |
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 |
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'- TCCAGTTCATCTGTTCATGATAAGG -3'
(R):5'- CAAATCCAAATTTTCTCACCTGTGG -3'
Sequencing Primer
(F):5'- CAATTTGCCATTGAGGAGA -3'
(R):5'- CCTGTGGAAATTTAAAGAGTTGAAGC -3'
|
Posted On |
2018-09-12 |