Incidental Mutation 'R4720:Vmn2r88'
| ID |
354403 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r88
|
| Ensembl Gene |
ENSMUSG00000000606 |
| Gene Name |
vomeronasal 2, receptor 88 |
| Synonyms |
V2r3, V2r13 |
| MMRRC Submission |
041958-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.163)
|
| Stock # |
R4720 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
51410819-51419527 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 51413245 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 138
(D138E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022438]
[ENSMUST00000159674]
[ENSMUST00000162998]
[ENSMUST00000228139]
|
| AlphaFold |
L7N1W8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022438
AA Change: D138E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000022438
Gene: ENSMUSG00000000606
AA Change: D138E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
76 |
457 |
8.3e-27 |
PFAM |
|
Pfam:NCD3G
|
516 |
570 |
1.2e-18 |
PFAM |
|
Pfam:7tm_3
|
603 |
838 |
1.9e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159674
AA Change: D138E
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000125126
Gene: ENSMUSG00000000606
AA Change: D138E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
30 |
408 |
3.2e-30 |
PFAM |
|
Pfam:NCD3G
|
463 |
516 |
1.2e-19 |
PFAM |
|
Pfam:7tm_3
|
546 |
785 |
3.7e-81 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161565
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162998
|
| SMART Domains |
Protein: ENSMUSP00000125409
Gene: ENSMUSG00000068399
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
35 |
115 |
2.2e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163019
AA Change: D113E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124837
Gene: ENSMUSG00000000606
AA Change: D113E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
52 |
399 |
3.7e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228139
AA Change: D138E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 91 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 110,127,422 |
I1124T |
probably damaging |
Het |
| Acacb |
A |
G |
5: 114,229,914 |
T1658A |
possibly damaging |
Het |
| Acvrl1 |
C |
A |
15: 101,135,773 |
P112Q |
probably damaging |
Het |
| Als2cr12 |
T |
C |
1: 58,678,348 |
I135V |
possibly damaging |
Het |
| Ankar |
A |
T |
1: 72,699,011 |
I4K |
possibly damaging |
Het |
| Ankfn1 |
G |
C |
11: 89,441,426 |
D431E |
possibly damaging |
Het |
| Apobec4 |
T |
C |
1: 152,756,674 |
V151A |
possibly damaging |
Het |
| Atp10b |
A |
G |
11: 43,203,122 |
S498G |
probably benign |
Het |
| Azin1 |
A |
G |
15: 38,493,500 |
V293A |
probably benign |
Het |
| Ccdc88b |
T |
C |
19: 6,857,715 |
E46G |
probably damaging |
Het |
| Ccdc96 |
T |
C |
5: 36,484,875 |
|
probably benign |
Het |
| Ccnyl1 |
A |
G |
1: 64,713,131 |
D169G |
probably benign |
Het |
| Cdca3 |
T |
A |
6: 124,832,164 |
V89E |
probably damaging |
Het |
| Cdh19 |
A |
T |
1: 110,895,381 |
|
probably null |
Het |
| Chka |
G |
A |
19: 3,886,375 |
V238I |
probably damaging |
Het |
| Cntn3 |
T |
C |
6: 102,242,022 |
K546E |
possibly damaging |
Het |
| Crybg3 |
A |
G |
16: 59,539,817 |
V787A |
probably damaging |
Het |
| Dlgap3 |
T |
C |
4: 127,195,715 |
|
probably null |
Het |
| Dnah8 |
C |
T |
17: 30,683,634 |
L889F |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 66,076,358 |
E1658G |
probably damaging |
Het |
| Dnajc11 |
A |
G |
4: 151,968,539 |
D102G |
probably damaging |
Het |
| Dync1i2 |
T |
G |
2: 71,233,674 |
S121A |
probably damaging |
Het |
| Ece1 |
G |
A |
4: 137,957,175 |
E591K |
probably damaging |
Het |
| Enthd1 |
G |
A |
15: 80,560,309 |
S15L |
probably damaging |
Het |
| Epb41l2 |
T |
A |
10: 25,471,626 |
H372Q |
probably damaging |
Het |
| Errfi1 |
T |
A |
4: 150,866,747 |
Y211N |
probably damaging |
Het |
| Fam193b |
G |
A |
13: 55,543,437 |
T208M |
probably benign |
Het |
| Fmnl2 |
C |
T |
2: 53,107,540 |
T501M |
possibly damaging |
Het |
| Gkn3 |
C |
T |
6: 87,383,525 |
A163T |
probably damaging |
Het |
| Gm340 |
G |
C |
19: 41,585,895 |
A1030P |
probably benign |
Het |
| Gm4841 |
G |
T |
18: 60,270,063 |
D319E |
probably benign |
Het |
| Gm5724 |
C |
A |
6: 141,723,222 |
A495S |
probably damaging |
Het |
| Gucd1 |
A |
G |
10: 75,509,660 |
F187S |
probably damaging |
Het |
| Hcar2 |
GCGGATGCGCAC |
GC |
5: 123,864,689 |
|
probably null |
Het |
| Helz2 |
T |
C |
2: 181,238,417 |
D502G |
probably damaging |
Het |
| Hspa2 |
A |
G |
12: 76,404,865 |
E111G |
possibly damaging |
Het |
| Htr2a |
T |
A |
14: 74,645,059 |
S162T |
probably damaging |
Het |
| Ift80 |
A |
G |
3: 68,962,290 |
Y223H |
possibly damaging |
Het |
| Il1rl1 |
A |
G |
1: 40,446,678 |
K330E |
probably benign |
Het |
| Il23r |
A |
T |
6: 67,423,661 |
F562I |
probably damaging |
Het |
| Isx |
T |
C |
8: 74,873,859 |
|
probably null |
Het |
| Jcad |
G |
A |
18: 4,674,055 |
V606I |
probably benign |
Het |
| Kcnn2 |
A |
T |
18: 45,683,120 |
T333S |
possibly damaging |
Het |
| Kcnq5 |
C |
T |
1: 21,403,050 |
A630T |
probably damaging |
Het |
| Kif2c |
T |
C |
4: 117,171,749 |
M188V |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,765,023 |
V321A |
possibly damaging |
Het |
| Krtap4-8 |
A |
T |
11: 99,780,445 |
|
probably benign |
Het |
| Lgals3bp |
A |
C |
11: 118,398,469 |
L52R |
probably damaging |
Het |
| Lipk |
C |
A |
19: 34,021,699 |
H126Q |
probably damaging |
Het |
| Lpgat1 |
T |
C |
1: 191,763,667 |
Y323H |
probably damaging |
Het |
| Lrp2 |
T |
G |
2: 69,481,173 |
N2654H |
probably damaging |
Het |
| Lsm14b |
C |
T |
2: 180,027,981 |
Q6* |
probably null |
Het |
| Lysmd3 |
C |
T |
13: 81,669,465 |
A187V |
possibly damaging |
Het |
| Map2k5 |
A |
G |
9: 63,293,719 |
S211P |
probably damaging |
Het |
| Mlph |
A |
T |
1: 90,941,697 |
I474F |
probably damaging |
Het |
| Mpped2 |
T |
C |
2: 106,783,746 |
S142P |
probably damaging |
Het |
| Nemf |
A |
C |
12: 69,324,288 |
M678R |
probably benign |
Het |
| Nfe2l1 |
A |
T |
11: 96,827,689 |
Y7N |
probably damaging |
Het |
| Nfkbie |
T |
G |
17: 45,556,306 |
D122E |
probably benign |
Het |
| Noc3l |
C |
A |
19: 38,789,622 |
A783S |
probably benign |
Het |
| Nol8 |
T |
C |
13: 49,662,753 |
V761A |
probably damaging |
Het |
| Nvl |
A |
G |
1: 181,101,587 |
L743P |
probably damaging |
Het |
| Olfr3 |
T |
A |
2: 36,812,472 |
I207F |
probably benign |
Het |
| Plcb1 |
A |
G |
2: 135,251,747 |
K160R |
possibly damaging |
Het |
| Plekhg3 |
G |
T |
12: 76,578,322 |
G1313C |
possibly damaging |
Het |
| Plekhh1 |
GTCAAA |
G |
12: 79,075,420 |
|
probably null |
Het |
| Popdc3 |
G |
A |
10: 45,314,906 |
V38I |
probably benign |
Het |
| Prdx3 |
A |
T |
19: 60,870,113 |
V114D |
possibly damaging |
Het |
| Prkdc |
T |
A |
16: 15,667,715 |
S469T |
probably benign |
Het |
| Rbm22 |
G |
A |
18: 60,564,391 |
R56H |
probably damaging |
Het |
| Reln |
A |
T |
5: 22,286,896 |
F113I |
possibly damaging |
Het |
| Rims1 |
A |
G |
1: 22,427,481 |
Y808H |
probably damaging |
Het |
| Rsbn1 |
C |
A |
3: 103,929,020 |
T458N |
possibly damaging |
Het |
| Serpina3b |
A |
G |
12: 104,130,630 |
S57G |
possibly damaging |
Het |
| Skor2 |
G |
T |
18: 76,861,183 |
|
probably null |
Het |
| Slc22a4 |
A |
T |
11: 53,988,893 |
Y447N |
probably damaging |
Het |
| Stx19 |
G |
T |
16: 62,822,319 |
R166L |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,205,869 |
T170A |
possibly damaging |
Het |
| Sycp2 |
T |
G |
2: 178,374,432 |
S746R |
probably benign |
Het |
| Tchh |
G |
T |
3: 93,447,882 |
R1543L |
unknown |
Het |
| Tjp2 |
T |
C |
19: 24,100,805 |
D908G |
probably damaging |
Het |
| Ttc8 |
C |
A |
12: 98,979,809 |
A452E |
possibly damaging |
Het |
| Unc5a |
T |
A |
13: 55,003,883 |
W709R |
probably null |
Het |
| Unc80 |
T |
A |
1: 66,510,792 |
S736R |
possibly damaging |
Het |
| Vmn2r100 |
C |
A |
17: 19,522,526 |
H387Q |
probably benign |
Het |
| Vmn2r39 |
C |
T |
7: 9,023,470 |
|
probably null |
Het |
| Vwce |
T |
C |
19: 10,648,467 |
F448L |
possibly damaging |
Het |
| Wdr75 |
C |
T |
1: 45,822,485 |
S695F |
probably benign |
Het |
| Zfand4 |
T |
C |
6: 116,288,161 |
|
probably null |
Het |
| Zfp511 |
T |
A |
7: 140,037,511 |
|
probably null |
Het |
| Zfyve9 |
T |
C |
4: 108,644,368 |
K584E |
possibly damaging |
Het |
|
| Other mutations in Vmn2r88 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Vmn2r88
|
APN |
14 |
51,413,256 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00990:Vmn2r88
|
APN |
14 |
51,413,060 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00990:Vmn2r88
|
APN |
14 |
51,413,125 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00990:Vmn2r88
|
APN |
14 |
51,416,802 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
IGL02308:Vmn2r88
|
APN |
14 |
51,417,980 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
IGL02481:Vmn2r88
|
APN |
14 |
51,414,154 (GRCm38) |
missense |
probably benign |
|
|
IGL02483:Vmn2r88
|
APN |
14 |
51,414,154 (GRCm38) |
missense |
probably benign |
|
|
IGL03241:Vmn2r88
|
APN |
14 |
51,418,373 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0052:Vmn2r88
|
UTSW |
14 |
51,418,700 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R0070:Vmn2r88
|
UTSW |
14 |
51,414,140 (GRCm38) |
missense |
probably benign |
0.08 |
|
R0799:Vmn2r88
|
UTSW |
14 |
51,414,502 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R0906:Vmn2r88
|
UTSW |
14 |
51,418,209 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1322:Vmn2r88
|
UTSW |
14 |
51,414,108 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1352:Vmn2r88
|
UTSW |
14 |
51,418,550 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1639:Vmn2r88
|
UTSW |
14 |
51,416,787 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1780:Vmn2r88
|
UTSW |
14 |
51,418,572 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1834:Vmn2r88
|
UTSW |
14 |
51,413,030 (GRCm38) |
splice site |
probably benign |
|
|
R1911:Vmn2r88
|
UTSW |
14 |
51,418,214 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2113:Vmn2r88
|
UTSW |
14 |
51,418,194 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2120:Vmn2r88
|
UTSW |
14 |
51,413,208 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2126:Vmn2r88
|
UTSW |
14 |
51,413,807 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2348:Vmn2r88
|
UTSW |
14 |
51,414,004 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2881:Vmn2r88
|
UTSW |
14 |
51,418,689 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2884:Vmn2r88
|
UTSW |
14 |
51,413,934 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3081:Vmn2r88
|
UTSW |
14 |
51,418,632 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3933:Vmn2r88
|
UTSW |
14 |
51,413,978 (GRCm38) |
missense |
probably benign |
0.44 |
|
R3967:Vmn2r88
|
UTSW |
14 |
51,413,190 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4091:Vmn2r88
|
UTSW |
14 |
51,415,426 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4378:Vmn2r88
|
UTSW |
14 |
51,413,289 (GRCm38) |
nonsense |
probably null |
|
|
R4397:Vmn2r88
|
UTSW |
14 |
51,417,978 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4418:Vmn2r88
|
UTSW |
14 |
51,418,081 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4609:Vmn2r88
|
UTSW |
14 |
51,418,074 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4647:Vmn2r88
|
UTSW |
14 |
51,418,793 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4672:Vmn2r88
|
UTSW |
14 |
51,418,155 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4684:Vmn2r88
|
UTSW |
14 |
51,413,334 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4686:Vmn2r88
|
UTSW |
14 |
51,413,339 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5046:Vmn2r88
|
UTSW |
14 |
51,413,181 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5063:Vmn2r88
|
UTSW |
14 |
51,411,146 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5619:Vmn2r88
|
UTSW |
14 |
51,413,910 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5652:Vmn2r88
|
UTSW |
14 |
51,418,572 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6020:Vmn2r88
|
UTSW |
14 |
51,418,149 (GRCm38) |
nonsense |
probably null |
|
|
R6103:Vmn2r88
|
UTSW |
14 |
51,415,369 (GRCm38) |
missense |
probably benign |
0.17 |
|
R6674:Vmn2r88
|
UTSW |
14 |
51,414,338 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6799:Vmn2r88
|
UTSW |
14 |
51,413,969 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7089:Vmn2r88
|
UTSW |
14 |
51,418,643 (GRCm38) |
missense |
|
|
|
R7104:Vmn2r88
|
UTSW |
14 |
51,413,796 (GRCm38) |
missense |
|
|
|
R7265:Vmn2r88
|
UTSW |
14 |
51,418,319 (GRCm38) |
missense |
|
|
|
R7316:Vmn2r88
|
UTSW |
14 |
51,414,255 (GRCm38) |
missense |
|
|
|
R7552:Vmn2r88
|
UTSW |
14 |
51,410,858 (GRCm38) |
splice site |
probably null |
|
|
R7611:Vmn2r88
|
UTSW |
14 |
51,413,997 (GRCm38) |
missense |
|
|
|
R7667:Vmn2r88
|
UTSW |
14 |
51,417,989 (GRCm38) |
missense |
|
|
|
R7682:Vmn2r88
|
UTSW |
14 |
51,418,449 (GRCm38) |
missense |
|
|
|
R7755:Vmn2r88
|
UTSW |
14 |
51,413,046 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7811:Vmn2r88
|
UTSW |
14 |
51,418,703 (GRCm38) |
missense |
|
|
|
R7882:Vmn2r88
|
UTSW |
14 |
51,413,046 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7957:Vmn2r88
|
UTSW |
14 |
51,413,132 (GRCm38) |
missense |
|
|
|
R7998:Vmn2r88
|
UTSW |
14 |
51,414,108 (GRCm38) |
missense |
|
|
|
R8142:Vmn2r88
|
UTSW |
14 |
51,414,107 (GRCm38) |
missense |
|
|
|
R8186:Vmn2r88
|
UTSW |
14 |
51,418,700 (GRCm38) |
missense |
|
|
|
R8348:Vmn2r88
|
UTSW |
14 |
51,418,796 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8448:Vmn2r88
|
UTSW |
14 |
51,418,796 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8483:Vmn2r88
|
UTSW |
14 |
51,413,073 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R8783:Vmn2r88
|
UTSW |
14 |
51,414,066 (GRCm38) |
missense |
|
|
|
R8859:Vmn2r88
|
UTSW |
14 |
51,418,806 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8916:Vmn2r88
|
UTSW |
14 |
51,411,136 (GRCm38) |
missense |
|
|
|
R8936:Vmn2r88
|
UTSW |
14 |
51,418,526 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R9004:Vmn2r88
|
UTSW |
14 |
51,413,167 (GRCm38) |
missense |
|
|
|
R9038:Vmn2r88
|
UTSW |
14 |
51,414,033 (GRCm38) |
missense |
|
|
|
R9063:Vmn2r88
|
UTSW |
14 |
51,410,872 (GRCm38) |
start gained |
probably benign |
|
|
R9311:Vmn2r88
|
UTSW |
14 |
51,413,046 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9382:Vmn2r88
|
UTSW |
14 |
51,418,740 (GRCm38) |
missense |
|
|
|
R9483:Vmn2r88
|
UTSW |
14 |
51,411,184 (GRCm38) |
missense |
|
|
|
R9602:Vmn2r88
|
UTSW |
14 |
51,413,732 (GRCm38) |
missense |
|
|
|
V5622:Vmn2r88
|
UTSW |
14 |
51,413,127 (GRCm38) |
missense |
probably benign |
|
|
X0024:Vmn2r88
|
UTSW |
14 |
51,413,832 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
X0025:Vmn2r88
|
UTSW |
14 |
51,416,802 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
Z1177:Vmn2r88
|
UTSW |
14 |
51,418,187 (GRCm38) |
missense |
|
|
|
Z1177:Vmn2r88
|
UTSW |
14 |
51,418,046 (GRCm38) |
frame shift |
probably null |
|
|
Z1190:Vmn2r88
|
UTSW |
14 |
51,413,201 (GRCm38) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCAAGTGAATATGAGTTTCTTCTGG -3'
(R):5'- TTGCAGTGTACATCTACGAAGTG -3'
Sequencing Primer
(F):5'- CCATCATTGGTGGAAACTGT -3'
(R):5'- GTGTGTTTGTGTAGCAGCAC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation