Incidental Mutation 'R8323:Vmn2r96'
| ID |
643950 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r96
|
| Ensembl Gene |
ENSMUSG00000091679 |
| Gene Name |
vomeronasal 2, receptor 96 |
| Synonyms |
EG433070 |
| MMRRC Submission |
067724-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.157)
|
| Stock # |
R8323 (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 T
at 18803023 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 311
(Y311F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135095
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165692]
[ENSMUST00000177244]
[ENSMUST00000231261]
[ENSMUST00000231286]
|
| AlphaFold |
E9PZU5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165692
AA Change: Y119F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131564
Gene: ENSMUSG00000091679
AA Change: Y119F
| 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 damaging
Transcript: ENSMUST00000177244
AA Change: Y311F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135095
Gene: ENSMUSG00000091679
AA Change: Y311F
| 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 damaging
Transcript: ENSMUST00000231286
AA Change: Y311F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
T |
C |
4: 128,649,351 (GRCm39) |
F6S |
probably benign |
Het |
| Braf |
T |
C |
6: 39,620,058 (GRCm39) |
T507A |
possibly damaging |
Het |
| Catsperb |
A |
C |
12: 101,375,658 (GRCm39) |
H24P |
probably benign |
Het |
| Ccdc57 |
G |
T |
11: 120,788,750 (GRCm39) |
Q366K |
possibly damaging |
Het |
| Cep295 |
G |
T |
9: 15,249,529 (GRCm39) |
T462K |
possibly damaging |
Het |
| Cep295 |
T |
A |
9: 15,264,357 (GRCm39) |
R96S |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,719,647 (GRCm39) |
E256K |
probably benign |
Het |
| Cfap251 |
A |
G |
5: 123,435,588 (GRCm39) |
N1016S |
probably benign |
Het |
| Cldn13 |
A |
G |
5: 134,943,828 (GRCm39) |
V119A |
probably benign |
Het |
| Csmd1 |
G |
T |
8: 17,266,751 (GRCm39) |
C58* |
probably null |
Het |
| Csmd3 |
T |
C |
15: 47,561,547 (GRCm39) |
Y1343C |
|
Het |
| Dcbld2 |
T |
A |
16: 58,283,473 (GRCm39) |
|
probably null |
Het |
| Dnah14 |
A |
G |
1: 181,532,109 (GRCm39) |
I2299V |
probably benign |
Het |
| Dsp |
C |
T |
13: 38,356,806 (GRCm39) |
H229Y |
possibly damaging |
Het |
| Fam193b |
A |
T |
13: 55,702,223 (GRCm39) |
C51* |
probably null |
Het |
| Fbxw10 |
G |
A |
11: 62,767,506 (GRCm39) |
V781I |
probably benign |
Het |
| Fdps |
G |
T |
3: 89,002,696 (GRCm39) |
P151T |
possibly damaging |
Het |
| Galk2 |
C |
T |
2: 125,708,298 (GRCm39) |
H16Y |
probably benign |
Het |
| Gm1110 |
A |
G |
9: 26,813,719 (GRCm39) |
|
probably null |
Het |
| Gm3727 |
C |
T |
14: 7,261,693 (GRCm38) |
V204I |
probably benign |
Het |
| Gtf2h3 |
A |
G |
5: 124,720,534 (GRCm39) |
I13V |
probably benign |
Het |
| H2-T24 |
T |
A |
17: 36,328,431 (GRCm39) |
|
probably null |
Het |
| Heatr5a |
C |
T |
12: 52,002,289 (GRCm39) |
V216M |
probably benign |
Het |
| Hspg2 |
C |
G |
4: 137,246,290 (GRCm39) |
P1023A |
possibly damaging |
Het |
| Igfbp2 |
C |
T |
1: 72,888,780 (GRCm39) |
P224S |
probably damaging |
Het |
| Igkv17-127 |
A |
G |
6: 67,838,498 (GRCm39) |
I70V |
possibly damaging |
Het |
| Kif11 |
T |
A |
19: 37,372,692 (GRCm39) |
F27I |
possibly damaging |
Het |
| Lcor |
T |
C |
19: 41,572,036 (GRCm39) |
S264P |
probably benign |
Het |
| Lrrc28 |
G |
T |
7: 67,245,455 (GRCm39) |
T137K |
unknown |
Het |
| Lyg1 |
T |
A |
1: 37,989,018 (GRCm39) |
R67S |
probably damaging |
Het |
| Ms4a10 |
G |
A |
19: 10,940,363 (GRCm39) |
Q255* |
probably null |
Het |
| Myo1h |
A |
G |
5: 114,480,200 (GRCm39) |
R512G |
|
Het |
| Nmnat3 |
T |
C |
9: 98,292,276 (GRCm39) |
Y174H |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,378,255 (GRCm39) |
I19V |
probably benign |
Het |
| Nsf |
C |
A |
11: 103,819,665 (GRCm39) |
V35L |
probably benign |
Het |
| Or1e30 |
A |
T |
11: 73,677,766 (GRCm39) |
M1L |
probably damaging |
Het |
| Or2w6 |
T |
A |
13: 21,843,302 (GRCm39) |
M64L |
possibly damaging |
Het |
| Osbpl9 |
A |
G |
4: 108,965,119 (GRCm39) |
S116P |
probably benign |
Het |
| Pcdhb15 |
A |
C |
18: 37,608,715 (GRCm39) |
E649A |
probably benign |
Het |
| Pcdhb8 |
T |
A |
18: 37,488,476 (GRCm39) |
D51E |
probably benign |
Het |
| Plcl1 |
T |
A |
1: 55,736,895 (GRCm39) |
D745E |
possibly damaging |
Het |
| Prss3 |
A |
G |
6: 41,351,258 (GRCm39) |
L165P |
probably damaging |
Het |
| Psme4 |
T |
A |
11: 30,793,532 (GRCm39) |
I1211N |
probably damaging |
Het |
| Rb1 |
A |
G |
14: 73,503,023 (GRCm39) |
V416A |
probably benign |
Het |
| Rnf111 |
T |
A |
9: 70,383,204 (GRCm39) |
Q243L |
probably benign |
Het |
| Sacm1l |
T |
C |
9: 123,377,987 (GRCm39) |
V89A |
probably benign |
Het |
| Sardh |
C |
T |
2: 27,125,576 (GRCm39) |
D313N |
probably damaging |
Het |
| Scin |
T |
C |
12: 40,129,681 (GRCm39) |
I371V |
probably benign |
Het |
| Scn10a |
C |
A |
9: 119,438,462 (GRCm39) |
L1801F |
possibly damaging |
Het |
| Sele |
G |
A |
1: 163,879,207 (GRCm39) |
V281M |
possibly damaging |
Het |
| Slc17a1 |
C |
A |
13: 24,071,982 (GRCm39) |
T400K |
probably damaging |
Het |
| Slc22a28 |
T |
A |
19: 8,108,788 (GRCm39) |
D118V |
probably damaging |
Het |
| Slc2a10 |
T |
A |
2: 165,356,671 (GRCm39) |
F110L |
probably benign |
Het |
| Slc51a |
A |
G |
16: 32,295,197 (GRCm39) |
S294P |
probably damaging |
Het |
| Snapc4 |
T |
C |
2: 26,254,711 (GRCm39) |
E1271G |
probably benign |
Het |
| Spata31 |
C |
A |
13: 65,070,065 (GRCm39) |
Q738K |
possibly damaging |
Het |
| Spdya |
A |
G |
17: 71,895,587 (GRCm39) |
D284G |
probably benign |
Het |
| Tdrd5 |
T |
C |
1: 156,094,832 (GRCm39) |
D757G |
possibly damaging |
Het |
| Tmem104 |
T |
C |
11: 115,134,199 (GRCm39) |
F245S |
probably damaging |
Het |
| Tmem170 |
A |
T |
8: 112,603,153 (GRCm39) |
S39T |
probably benign |
Het |
| Trim24 |
G |
T |
6: 37,892,233 (GRCm39) |
|
probably null |
Het |
| Uap1 |
A |
G |
1: 169,978,635 (GRCm39) |
V302A |
probably damaging |
Het |
| Wdhd1 |
A |
T |
14: 47,512,252 (GRCm39) |
D46E |
possibly damaging |
Het |
| Zdbf2 |
G |
A |
1: 63,342,073 (GRCm39) |
V151I |
possibly damaging |
Het |
| Zfp747l1 |
A |
T |
7: 126,983,621 (GRCm39) |
C494S |
possibly damaging |
Het |
| Zfp943 |
A |
G |
17: 22,211,763 (GRCm39) |
Q283R |
possibly damaging |
Het |
| Zfp944 |
A |
T |
17: 22,558,235 (GRCm39) |
D337E |
probably benign |
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 |
|
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 |
|
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'- TGGTTTGACAGTTTTCCAACACATG -3'
Sequencing Primer
(F):5'- GCCTAGCTTTTGTAAAAATGACCCC -3'
(R):5'- GTTTTCCAACACATGACAATTAGTG -3'
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| Posted On |
2020-09-02 |
Incidental Mutation