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: 0.141)
|
Stock # |
R6813 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
18573151-18616003 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 18581854 bp (GRCm38)
|
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 |
2410089E03Rik |
T |
A |
15: 8,229,282 (GRCm38) |
N2337K |
probably benign |
Het |
Adgrb2 |
C |
A |
4: 130,009,491 (GRCm38) |
Q603K |
probably damaging |
Het |
Adgrf3 |
A |
G |
5: 30,197,521 (GRCm38) |
F503S |
probably damaging |
Het |
Arfgap3 |
A |
T |
15: 83,330,593 (GRCm38) |
M164K |
probably benign |
Het |
Asb13 |
G |
T |
13: 3,645,029 (GRCm38) |
V166F |
probably damaging |
Het |
Atm |
T |
G |
9: 53,497,235 (GRCm38) |
R1103S |
probably benign |
Het |
Atxn7l1 |
T |
C |
12: 33,367,124 (GRCm38) |
I626T |
probably damaging |
Het |
Brsk2 |
A |
G |
7: 142,002,477 (GRCm38) |
I649V |
probably benign |
Het |
Ccdc25 |
T |
A |
14: 65,856,433 (GRCm38) |
M85K |
probably benign |
Het |
Cdc42bpb |
A |
G |
12: 111,327,615 (GRCm38) |
V231A |
probably damaging |
Het |
Clstn3 |
T |
A |
6: 124,436,935 (GRCm38) |
M767L |
probably benign |
Het |
Col6a6 |
C |
T |
9: 105,783,941 (GRCm38) |
R323K |
probably benign |
Het |
Creld1 |
A |
G |
6: 113,489,569 (GRCm38) |
Y199C |
probably damaging |
Het |
Csf1r |
T |
A |
18: 61,112,734 (GRCm38) |
D254E |
probably benign |
Het |
Dab2ip |
C |
T |
2: 35,730,473 (GRCm38) |
Q1118* |
probably null |
Het |
Dcun1d4 |
C |
A |
5: 73,520,957 (GRCm38) |
S98R |
possibly damaging |
Het |
Disp3 |
G |
A |
4: 148,259,930 (GRCm38) |
P505L |
probably benign |
Het |
Dlec1 |
A |
T |
9: 119,112,102 (GRCm38) |
Q240L |
probably benign |
Het |
Edil3 |
T |
A |
13: 89,289,456 (GRCm38) |
I392N |
probably damaging |
Het |
Epha10 |
T |
A |
4: 124,902,693 (GRCm38) |
S398R |
|
Het |
Ephb1 |
A |
G |
9: 102,010,048 (GRCm38) |
I464T |
possibly damaging |
Het |
Eps15 |
T |
A |
4: 109,280,402 (GRCm38) |
|
probably null |
Het |
Fam111a |
T |
A |
19: 12,587,342 (GRCm38) |
C152S |
probably damaging |
Het |
Flt3 |
T |
C |
5: 147,354,843 (GRCm38) |
E599G |
probably damaging |
Het |
Frmd3 |
T |
C |
4: 74,159,245 (GRCm38) |
S259P |
probably benign |
Het |
Gm15922 |
T |
C |
7: 3,736,003 (GRCm38) |
H535R |
probably benign |
Het |
Gm30302 |
T |
A |
13: 49,787,396 (GRCm38) |
R279S |
probably benign |
Het |
Hsfy2 |
A |
G |
1: 56,636,302 (GRCm38) |
Y359H |
possibly damaging |
Het |
Ifih1 |
C |
T |
2: 62,645,693 (GRCm38) |
V80M |
possibly damaging |
Het |
Il12rb2 |
A |
C |
6: 67,292,374 (GRCm38) |
D818E |
probably damaging |
Het |
Il4i1 |
A |
G |
7: 44,839,812 (GRCm38) |
T334A |
probably benign |
Het |
Irs2 |
G |
A |
8: 11,004,659 (GRCm38) |
Q1258* |
probably null |
Het |
Lsm1 |
T |
G |
8: 25,793,693 (GRCm38) |
H44Q |
probably benign |
Het |
Mgam |
A |
T |
6: 40,750,165 (GRCm38) |
M1257L |
probably damaging |
Het |
Myc |
T |
C |
15: 61,988,152 (GRCm38) |
S225P |
probably damaging |
Het |
Myh1 |
T |
C |
11: 67,220,460 (GRCm38) |
V1575A |
probably benign |
Het |
Myo9b |
A |
G |
8: 71,323,305 (GRCm38) |
D380G |
probably damaging |
Het |
Ncoa7 |
T |
A |
10: 30,696,192 (GRCm38) |
D157V |
probably damaging |
Het |
Olfr314 |
G |
T |
11: 58,786,646 (GRCm38) |
Q137H |
probably benign |
Het |
Olfr828 |
G |
A |
9: 18,815,892 (GRCm38) |
T134M |
probably benign |
Het |
Olfr877 |
A |
C |
9: 37,855,514 (GRCm38) |
E232A |
possibly damaging |
Het |
Olfr883 |
T |
C |
9: 38,025,833 (GRCm38) |
V9A |
probably damaging |
Het |
Olfr980 |
T |
A |
9: 40,006,457 (GRCm38) |
H164L |
probably benign |
Het |
Pccb |
A |
G |
9: 101,023,215 (GRCm38) |
V117A |
probably damaging |
Het |
Pdp2 |
C |
T |
8: 104,594,499 (GRCm38) |
H327Y |
probably damaging |
Het |
Pdzph1 |
G |
T |
17: 58,974,436 (GRCm38) |
Q284K |
probably benign |
Het |
Phka2 |
G |
A |
X: 160,533,048 (GRCm38) |
V230I |
probably damaging |
Het |
Phldb1 |
A |
T |
9: 44,699,568 (GRCm38) |
S751R |
probably damaging |
Het |
Ppp1r1b |
T |
A |
11: 98,349,176 (GRCm38) |
|
probably null |
Het |
Ppp1r3a |
A |
G |
6: 14,719,571 (GRCm38) |
V448A |
probably benign |
Het |
Pvrig |
A |
T |
5: 138,342,050 (GRCm38) |
T28S |
probably benign |
Het |
Rasgrf1 |
G |
A |
9: 90,010,484 (GRCm38) |
|
probably null |
Het |
Scnn1g |
T |
C |
7: 121,740,353 (GRCm38) |
L125S |
probably damaging |
Het |
Slc30a7 |
A |
T |
3: 115,981,811 (GRCm38) |
D221E |
probably benign |
Het |
Tmem30c |
A |
G |
16: 57,281,259 (GRCm38) |
|
probably null |
Het |
Tmem33 |
T |
C |
5: 67,264,459 (GRCm38) |
|
probably null |
Het |
Ttc29 |
A |
T |
8: 78,333,620 (GRCm38) |
T390S |
probably benign |
Het |
Vamp5 |
G |
A |
6: 72,380,441 (GRCm38) |
|
probably benign |
Het |
Vmn2r81 |
T |
A |
10: 79,268,605 (GRCm38) |
F354Y |
probably benign |
Het |
Wdr3 |
G |
A |
3: 100,138,725 (GRCm38) |
R931* |
probably null |
Het |
Wdr78 |
T |
C |
4: 103,048,326 (GRCm38) |
K753E |
probably benign |
Het |
Wtap |
A |
T |
17: 12,967,510 (GRCm38) |
N383K |
probably damaging |
Het |
Zfp808 |
T |
C |
13: 62,173,035 (GRCm38) |
Y693H |
probably damaging |
Het |
|
Other mutations in Vmn2r96 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00562:Vmn2r96
|
APN |
17 |
18,583,815 (GRCm38) |
missense |
probably benign |
0.00 |
IGL00563:Vmn2r96
|
APN |
17 |
18,583,815 (GRCm38) |
missense |
probably benign |
0.00 |
IGL00769:Vmn2r96
|
APN |
17 |
18,583,819 (GRCm38) |
missense |
probably benign |
0.00 |
IGL01314:Vmn2r96
|
APN |
17 |
18,582,964 (GRCm38) |
missense |
probably benign |
0.00 |
IGL01983:Vmn2r96
|
APN |
17 |
18,597,265 (GRCm38) |
missense |
probably damaging |
0.99 |
IGL02314:Vmn2r96
|
APN |
17 |
18,583,959 (GRCm38) |
missense |
probably benign |
0.01 |
IGL02600:Vmn2r96
|
APN |
17 |
18,597,567 (GRCm38) |
missense |
probably benign |
|
IGL02672:Vmn2r96
|
APN |
17 |
18,598,114 (GRCm38) |
missense |
probably benign |
0.02 |
IGL02750:Vmn2r96
|
APN |
17 |
18,582,589 (GRCm38) |
missense |
probably benign |
0.01 |
IGL03068:Vmn2r96
|
APN |
17 |
18,582,875 (GRCm38) |
missense |
probably benign |
0.00 |
IGL03411:Vmn2r96
|
APN |
17 |
18,586,372 (GRCm38) |
missense |
possibly damaging |
0.88 |
R0316:Vmn2r96
|
UTSW |
17 |
18,582,565 (GRCm38) |
missense |
probably damaging |
1.00 |
R0502:Vmn2r96
|
UTSW |
17 |
18,584,000 (GRCm38) |
missense |
probably benign |
|
R0580:Vmn2r96
|
UTSW |
17 |
18,582,638 (GRCm38) |
missense |
probably damaging |
1.00 |
R0652:Vmn2r96
|
UTSW |
17 |
18,597,568 (GRCm38) |
missense |
probably benign |
0.05 |
R0789:Vmn2r96
|
UTSW |
17 |
18,582,476 (GRCm38) |
missense |
possibly damaging |
0.81 |
R1462:Vmn2r96
|
UTSW |
17 |
18,597,398 (GRCm38) |
missense |
possibly damaging |
0.94 |
R1462:Vmn2r96
|
UTSW |
17 |
18,597,398 (GRCm38) |
missense |
possibly damaging |
0.94 |
R1660:Vmn2r96
|
UTSW |
17 |
18,597,726 (GRCm38) |
missense |
probably benign |
0.00 |
R1755:Vmn2r96
|
UTSW |
17 |
18,582,653 (GRCm38) |
missense |
possibly damaging |
0.50 |
R1843:Vmn2r96
|
UTSW |
17 |
18,597,921 (GRCm38) |
missense |
probably benign |
0.14 |
R1943:Vmn2r96
|
UTSW |
17 |
18,586,402 (GRCm38) |
missense |
probably benign |
0.09 |
R1993:Vmn2r96
|
UTSW |
17 |
18,583,876 (GRCm38) |
missense |
probably damaging |
1.00 |
R2018:Vmn2r96
|
UTSW |
17 |
18,584,001 (GRCm38) |
missense |
probably benign |
|
R2405:Vmn2r96
|
UTSW |
17 |
18,597,840 (GRCm38) |
missense |
probably damaging |
0.96 |
R3977:Vmn2r96
|
UTSW |
17 |
18,597,679 (GRCm38) |
missense |
probably damaging |
1.00 |
R3979:Vmn2r96
|
UTSW |
17 |
18,597,679 (GRCm38) |
missense |
probably damaging |
1.00 |
R4059:Vmn2r96
|
UTSW |
17 |
18,598,077 (GRCm38) |
missense |
probably benign |
0.20 |
R4693:Vmn2r96
|
UTSW |
17 |
18,583,008 (GRCm38) |
missense |
probably benign |
0.03 |
R4709:Vmn2r96
|
UTSW |
17 |
18,582,826 (GRCm38) |
missense |
probably benign |
0.36 |
R4776:Vmn2r96
|
UTSW |
17 |
18,597,508 (GRCm38) |
missense |
probably damaging |
1.00 |
R4882:Vmn2r96
|
UTSW |
17 |
18,597,604 (GRCm38) |
missense |
probably damaging |
1.00 |
R4920:Vmn2r96
|
UTSW |
17 |
18,582,656 (GRCm38) |
missense |
probably benign |
0.07 |
R5143:Vmn2r96
|
UTSW |
17 |
18,583,858 (GRCm38) |
missense |
possibly damaging |
0.65 |
R5301:Vmn2r96
|
UTSW |
17 |
18,597,688 (GRCm38) |
missense |
probably damaging |
0.98 |
R5507:Vmn2r96
|
UTSW |
17 |
18,597,829 (GRCm38) |
missense |
probably damaging |
1.00 |
R6151:Vmn2r96
|
UTSW |
17 |
18,583,959 (GRCm38) |
missense |
probably benign |
0.01 |
R6181:Vmn2r96
|
UTSW |
17 |
18,583,864 (GRCm38) |
missense |
probably benign |
|
R6339:Vmn2r96
|
UTSW |
17 |
18,583,862 (GRCm38) |
missense |
possibly damaging |
0.84 |
R6404:Vmn2r96
|
UTSW |
17 |
18,597,531 (GRCm38) |
missense |
probably damaging |
1.00 |
R6452:Vmn2r96
|
UTSW |
17 |
18,583,855 (GRCm38) |
missense |
probably benign |
0.07 |
R6749:Vmn2r96
|
UTSW |
17 |
18,598,090 (GRCm38) |
missense |
probably damaging |
0.99 |
R6851:Vmn2r96
|
UTSW |
17 |
18,582,538 (GRCm38) |
missense |
possibly damaging |
0.95 |
R6944:Vmn2r96
|
UTSW |
17 |
18,597,629 (GRCm38) |
missense |
probably benign |
0.16 |
R6949:Vmn2r96
|
UTSW |
17 |
18,597,838 (GRCm38) |
missense |
probably damaging |
1.00 |
R6962:Vmn2r96
|
UTSW |
17 |
18,598,021 (GRCm38) |
missense |
probably damaging |
0.99 |
R6990:Vmn2r96
|
UTSW |
17 |
18,583,820 (GRCm38) |
missense |
probably benign |
|
R7149:Vmn2r96
|
UTSW |
17 |
18,597,727 (GRCm38) |
missense |
possibly damaging |
0.89 |
R7346:Vmn2r96
|
UTSW |
17 |
18,582,767 (GRCm38) |
missense |
probably benign |
0.15 |
R7385:Vmn2r96
|
UTSW |
17 |
18,583,040 (GRCm38) |
missense |
probably damaging |
1.00 |
R7442:Vmn2r96
|
UTSW |
17 |
18,573,400 (GRCm38) |
missense |
probably benign |
0.02 |
R7509:Vmn2r96
|
UTSW |
17 |
18,582,733 (GRCm38) |
missense |
probably benign |
0.02 |
R7652:Vmn2r96
|
UTSW |
17 |
18,573,570 (GRCm38) |
missense |
probably benign |
|
R7659:Vmn2r96
|
UTSW |
17 |
18,573,487 (GRCm38) |
missense |
probably benign |
0.00 |
R7753:Vmn2r96
|
UTSW |
17 |
18,586,401 (GRCm38) |
missense |
possibly damaging |
0.46 |
R7855:Vmn2r96
|
UTSW |
17 |
18,597,868 (GRCm38) |
missense |
possibly damaging |
0.59 |
R8166:Vmn2r96
|
UTSW |
17 |
18,582,482 (GRCm38) |
missense |
probably damaging |
1.00 |
R8260:Vmn2r96
|
UTSW |
17 |
18,583,981 (GRCm38) |
missense |
probably benign |
0.04 |
R8323:Vmn2r96
|
UTSW |
17 |
18,582,761 (GRCm38) |
missense |
probably damaging |
0.99 |
R8787:Vmn2r96
|
UTSW |
17 |
18,597,988 (GRCm38) |
missense |
probably damaging |
1.00 |
R8837:Vmn2r96
|
UTSW |
17 |
18,582,626 (GRCm38) |
missense |
probably benign |
|
R8933:Vmn2r96
|
UTSW |
17 |
18,583,979 (GRCm38) |
missense |
probably benign |
0.11 |
R9306:Vmn2r96
|
UTSW |
17 |
18,582,964 (GRCm38) |
missense |
probably benign |
0.00 |
R9481:Vmn2r96
|
UTSW |
17 |
18,573,359 (GRCm38) |
start gained |
probably benign |
|
R9626:Vmn2r96
|
UTSW |
17 |
18,573,496 (GRCm38) |
missense |
probably benign |
0.14 |
R9629:Vmn2r96
|
UTSW |
17 |
18,582,995 (GRCm38) |
missense |
probably benign |
0.15 |
Z1088:Vmn2r96
|
UTSW |
17 |
18,597,366 (GRCm38) |
missense |
possibly damaging |
0.86 |
Z1177:Vmn2r96
|
UTSW |
17 |
18,598,114 (GRCm38) |
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 |