Incidental Mutation 'R5992:Vmn2r104'
| ID |
480919 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r104
|
| Ensembl Gene |
ENSMUSG00000090315 |
| Gene Name |
vomeronasal 2, receptor 104 |
| Synonyms |
V2r7 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R5992 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
20029425-20048205 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 20029485 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 841
(N841K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168050]
|
| AlphaFold |
E9Q2J5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168050
AA Change: N841K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129895
Gene: ENSMUSG00000090315
AA Change: N841K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
85 |
457 |
4e-38 |
PFAM |
|
Pfam:NCD3G
|
512 |
565 |
2.1e-20 |
PFAM |
|
Pfam:7tm_3
|
598 |
833 |
1.7e-52 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
T |
A |
17: 45,508,623 (GRCm38) |
L188* |
probably null |
Het |
| Acod1 |
C |
T |
14: 103,055,035 (GRCm38) |
R332C |
probably damaging |
Het |
| Adamts3 |
T |
A |
5: 89,691,335 (GRCm38) |
K852M |
probably damaging |
Het |
| Adm |
A |
T |
7: 110,627,696 (GRCm38) |
|
probably benign |
Het |
| Aff4 |
A |
G |
11: 53,373,010 (GRCm38) |
S286G |
probably damaging |
Het |
| Ank2 |
A |
G |
3: 126,959,651 (GRCm38) |
|
probably null |
Het |
| Aqr |
A |
T |
2: 114,143,049 (GRCm38) |
Y427* |
probably null |
Het |
| Arid1b |
C |
A |
17: 4,994,956 (GRCm38) |
|
probably benign |
Het |
| Arpp21 |
T |
A |
9: 112,143,485 (GRCm38) |
R259* |
probably null |
Het |
| Cep290 |
C |
T |
10: 100,543,321 (GRCm38) |
A55V |
possibly damaging |
Het |
| Chsy3 |
GT |
G |
18: 59,176,166 (GRCm38) |
163 |
probably null |
Het |
| Clcn2 |
T |
C |
16: 20,713,654 (GRCm38) |
E68G |
possibly damaging |
Het |
| Corin |
T |
A |
5: 72,316,389 (GRCm38) |
H699L |
probably benign |
Het |
| Cyld |
T |
C |
8: 88,733,053 (GRCm38) |
Y446H |
probably damaging |
Het |
| Dcst1 |
T |
A |
3: 89,352,576 (GRCm38) |
E613V |
probably damaging |
Het |
| Dlk1 |
T |
C |
12: 109,455,581 (GRCm38) |
C74R |
probably damaging |
Het |
| Dnah12 |
A |
C |
14: 26,697,341 (GRCm38) |
K128T |
probably benign |
Het |
| Dspp |
T |
A |
5: 104,178,451 (GRCm38) |
S893R |
unknown |
Het |
| Dtl |
A |
T |
1: 191,568,572 (GRCm38) |
|
probably null |
Het |
| F2rl1 |
T |
A |
13: 95,514,270 (GRCm38) |
S35C |
probably benign |
Het |
| Fcgbp |
A |
T |
7: 28,120,534 (GRCm38) |
Y2562F |
probably benign |
Het |
| Fgf10 |
A |
T |
13: 118,715,508 (GRCm38) |
D42V |
probably benign |
Het |
| Gm10271 |
A |
T |
10: 116,972,592 (GRCm38) |
F6L |
probably damaging |
Het |
| Gm21190 |
T |
A |
5: 15,524,851 (GRCm38) |
E256D |
probably damaging |
Het |
| Gm5157 |
A |
G |
7: 21,185,421 (GRCm38) |
S66P |
probably damaging |
Het |
| Gm884 |
A |
T |
11: 103,613,792 (GRCm38) |
M2450K |
possibly damaging |
Het |
| Hal |
T |
G |
10: 93,490,916 (GRCm38) |
L138R |
probably damaging |
Het |
| Hsd17b3 |
T |
C |
13: 64,059,470 (GRCm38) |
|
probably null |
Het |
| Lrsam1 |
T |
C |
2: 32,955,222 (GRCm38) |
T94A |
probably benign |
Het |
| Macc1 |
T |
C |
12: 119,447,585 (GRCm38) |
V696A |
probably damaging |
Het |
| Magi2 |
G |
A |
5: 19,227,291 (GRCm38) |
M1I |
probably null |
Het |
| March7 |
C |
A |
2: 60,245,220 (GRCm38) |
N674K |
probably benign |
Het |
| Mfap1b |
A |
G |
2: 121,470,295 (GRCm38) |
V34A |
probably benign |
Het |
| Mob3b |
G |
A |
4: 35,084,069 (GRCm38) |
S40L |
probably benign |
Het |
| Ndufs2 |
A |
T |
1: 171,236,418 (GRCm38) |
V386E |
probably damaging |
Het |
| Nfic |
C |
T |
10: 81,420,747 (GRCm38) |
A19T |
probably damaging |
Het |
| Nfs1 |
G |
A |
2: 156,134,453 (GRCm38) |
R174W |
probably damaging |
Het |
| Nin |
G |
T |
12: 70,045,524 (GRCm38) |
S670R |
possibly damaging |
Het |
| Nrxn1 |
T |
C |
17: 90,623,507 (GRCm38) |
I754V |
probably benign |
Het |
| Nwd1 |
T |
C |
8: 72,653,573 (GRCm38) |
|
probably null |
Het |
| Olfr1231 |
T |
A |
2: 89,303,359 (GRCm38) |
T78S |
possibly damaging |
Het |
| Olfr1238 |
T |
A |
2: 89,406,879 (GRCm38) |
M67L |
probably benign |
Het |
| Olfr575 |
G |
T |
7: 102,955,009 (GRCm38) |
N197K |
probably benign |
Het |
| Pcdhgb8 |
A |
G |
18: 37,763,449 (GRCm38) |
E524G |
probably damaging |
Het |
| Phlpp1 |
A |
T |
1: 106,318,993 (GRCm38) |
R638* |
probably null |
Het |
| Pkmyt1 |
G |
C |
17: 23,735,326 (GRCm38) |
W360S |
probably benign |
Het |
| Plxnd1 |
C |
A |
6: 115,967,787 (GRCm38) |
|
probably null |
Het |
| Poldip3 |
A |
T |
15: 83,129,229 (GRCm38) |
N322K |
probably damaging |
Het |
| Prmt3 |
A |
T |
7: 49,828,947 (GRCm38) |
I419L |
probably benign |
Het |
| Prss36 |
A |
T |
7: 127,944,830 (GRCm38) |
V123E |
probably damaging |
Het |
| Prss58 |
A |
G |
6: 40,897,769 (GRCm38) |
I46T |
probably damaging |
Het |
| Rac1 |
T |
C |
5: 143,506,998 (GRCm38) |
|
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,233,996 (GRCm38) |
Y36C |
probably damaging |
Het |
| Rif1 |
C |
G |
2: 52,095,844 (GRCm38) |
L614V |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,468,999 (GRCm38) |
L57F |
probably damaging |
Het |
| Rp1 |
A |
T |
1: 4,148,703 (GRCm38) |
F951L |
unknown |
Het |
| Rps6ka5 |
G |
T |
12: 100,575,250 (GRCm38) |
P417T |
possibly damaging |
Het |
| Ryr1 |
A |
G |
7: 29,067,637 (GRCm38) |
W2967R |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,205,543 (GRCm38) |
S1679R |
probably damaging |
Het |
| Scn1a |
A |
C |
2: 66,335,456 (GRCm38) |
W153G |
probably damaging |
Het |
| Serpinb7 |
A |
G |
1: 107,445,996 (GRCm38) |
Y114C |
probably damaging |
Het |
| Son |
T |
C |
16: 91,658,904 (GRCm38) |
M1513T |
probably benign |
Het |
| Spag8 |
C |
T |
4: 43,651,534 (GRCm38) |
V447M |
probably benign |
Het |
| St3gal2 |
T |
A |
8: 110,969,553 (GRCm38) |
Y257N |
probably damaging |
Het |
| Tars |
A |
T |
15: 11,397,196 (GRCm38) |
D40E |
probably damaging |
Het |
| Tlr3 |
T |
C |
8: 45,397,814 (GRCm38) |
H158R |
probably benign |
Het |
| Tppp2 |
G |
T |
14: 51,918,935 (GRCm38) |
V50L |
probably benign |
Het |
| Trrap |
T |
C |
5: 144,810,184 (GRCm38) |
S1503P |
probably benign |
Het |
| Ttll4 |
T |
G |
1: 74,685,391 (GRCm38) |
S573R |
probably damaging |
Het |
| Vmn2r3 |
A |
T |
3: 64,259,647 (GRCm38) |
C688S |
probably damaging |
Het |
| Vps16 |
T |
C |
2: 130,424,449 (GRCm38) |
|
probably null |
Het |
| Zfp608 |
G |
A |
18: 54,899,248 (GRCm38) |
T540I |
probably benign |
Het |
| Zfp775 |
G |
A |
6: 48,619,816 (GRCm38) |
R208Q |
probably damaging |
Het |
|
| Other mutations in Vmn2r104 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00427:Vmn2r104
|
APN |
17 |
20,038,239 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01098:Vmn2r104
|
APN |
17 |
20,048,096 (GRCm38) |
missense |
probably benign |
0.27 |
|
IGL01333:Vmn2r104
|
APN |
17 |
20,042,793 (GRCm38) |
missense |
probably benign |
0.17 |
|
IGL01527:Vmn2r104
|
APN |
17 |
20,042,896 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
IGL01773:Vmn2r104
|
APN |
17 |
20,040,668 (GRCm38) |
missense |
probably benign |
0.10 |
|
IGL01939:Vmn2r104
|
APN |
17 |
20,029,925 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02121:Vmn2r104
|
APN |
17 |
20,041,794 (GRCm38) |
nonsense |
probably null |
|
|
IGL02305:Vmn2r104
|
APN |
17 |
20,042,856 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL02374:Vmn2r104
|
APN |
17 |
20,042,786 (GRCm38) |
missense |
probably benign |
0.34 |
|
IGL03260:Vmn2r104
|
APN |
17 |
20,042,821 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL03366:Vmn2r104
|
APN |
17 |
20,029,604 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0091:Vmn2r104
|
UTSW |
17 |
20,041,813 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R0125:Vmn2r104
|
UTSW |
17 |
20,029,807 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0257:Vmn2r104
|
UTSW |
17 |
20,029,627 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0381:Vmn2r104
|
UTSW |
17 |
20,048,002 (GRCm38) |
nonsense |
probably null |
|
|
R0709:Vmn2r104
|
UTSW |
17 |
20,042,904 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0786:Vmn2r104
|
UTSW |
17 |
20,042,725 (GRCm38) |
missense |
probably benign |
|
|
R1575:Vmn2r104
|
UTSW |
17 |
20,042,215 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1827:Vmn2r104
|
UTSW |
17 |
20,042,235 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1932:Vmn2r104
|
UTSW |
17 |
20,040,769 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1956:Vmn2r104
|
UTSW |
17 |
20,042,051 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2203:Vmn2r104
|
UTSW |
17 |
20,029,821 (GRCm38) |
missense |
probably benign |
0.05 |
|
R2205:Vmn2r104
|
UTSW |
17 |
20,029,821 (GRCm38) |
missense |
probably benign |
0.05 |
|
R2859:Vmn2r104
|
UTSW |
17 |
20,048,193 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R3701:Vmn2r104
|
UTSW |
17 |
20,029,556 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3834:Vmn2r104
|
UTSW |
17 |
20,029,921 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4151:Vmn2r104
|
UTSW |
17 |
20,029,885 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4470:Vmn2r104
|
UTSW |
17 |
20,042,241 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4625:Vmn2r104
|
UTSW |
17 |
20,048,181 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4754:Vmn2r104
|
UTSW |
17 |
20,040,768 (GRCm38) |
nonsense |
probably null |
|
|
R4911:Vmn2r104
|
UTSW |
17 |
20,030,026 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5270:Vmn2r104
|
UTSW |
17 |
20,038,266 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5279:Vmn2r104
|
UTSW |
17 |
20,041,884 (GRCm38) |
missense |
probably benign |
0.07 |
|
R5311:Vmn2r104
|
UTSW |
17 |
20,029,901 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5370:Vmn2r104
|
UTSW |
17 |
20,030,188 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5461:Vmn2r104
|
UTSW |
17 |
20,030,081 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5683:Vmn2r104
|
UTSW |
17 |
20,040,719 (GRCm38) |
nonsense |
probably null |
|
|
R5795:Vmn2r104
|
UTSW |
17 |
20,030,282 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R5795:Vmn2r104
|
UTSW |
17 |
20,030,110 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5970:Vmn2r104
|
UTSW |
17 |
20,029,471 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5983:Vmn2r104
|
UTSW |
17 |
20,041,708 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6066:Vmn2r104
|
UTSW |
17 |
20,038,311 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R6156:Vmn2r104
|
UTSW |
17 |
20,041,647 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6182:Vmn2r104
|
UTSW |
17 |
20,030,245 (GRCm38) |
missense |
probably benign |
0.16 |
|
R6245:Vmn2r104
|
UTSW |
17 |
20,041,567 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R6333:Vmn2r104
|
UTSW |
17 |
20,029,586 (GRCm38) |
missense |
probably benign |
0.30 |
|
R6573:Vmn2r104
|
UTSW |
17 |
20,042,225 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7101:Vmn2r104
|
UTSW |
17 |
20,030,096 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R7123:Vmn2r104
|
UTSW |
17 |
20,040,826 (GRCm38) |
missense |
probably benign |
0.12 |
|
R7485:Vmn2r104
|
UTSW |
17 |
20,029,475 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7514:Vmn2r104
|
UTSW |
17 |
20,029,529 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7634:Vmn2r104
|
UTSW |
17 |
20,041,709 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R7958:Vmn2r104
|
UTSW |
17 |
20,042,726 (GRCm38) |
missense |
probably benign |
|
|
R8031:Vmn2r104
|
UTSW |
17 |
20,042,786 (GRCm38) |
missense |
probably benign |
0.34 |
|
R8094:Vmn2r104
|
UTSW |
17 |
20,030,221 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R8191:Vmn2r104
|
UTSW |
17 |
20,030,203 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R8308:Vmn2r104
|
UTSW |
17 |
20,040,778 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R8691:Vmn2r104
|
UTSW |
17 |
20,041,848 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8795:Vmn2r104
|
UTSW |
17 |
20,042,726 (GRCm38) |
missense |
probably benign |
|
|
R8900:Vmn2r104
|
UTSW |
17 |
20,041,662 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8913:Vmn2r104
|
UTSW |
17 |
20,029,706 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9180:Vmn2r104
|
UTSW |
17 |
20,042,825 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9199:Vmn2r104
|
UTSW |
17 |
20,041,835 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9282:Vmn2r104
|
UTSW |
17 |
20,040,836 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9303:Vmn2r104
|
UTSW |
17 |
20,048,177 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R9305:Vmn2r104
|
UTSW |
17 |
20,048,177 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R9322:Vmn2r104
|
UTSW |
17 |
20,042,825 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9325:Vmn2r104
|
UTSW |
17 |
20,048,171 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9414:Vmn2r104
|
UTSW |
17 |
20,029,988 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9785:Vmn2r104
|
UTSW |
17 |
20,048,147 (GRCm38) |
missense |
probably benign |
|
|
RF007:Vmn2r104
|
UTSW |
17 |
20,048,040 (GRCm38) |
missense |
probably benign |
0.36 |
|
Z1177:Vmn2r104
|
UTSW |
17 |
20,029,789 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCATCAGGTCTTCAACTCAGAG -3'
(R):5'- CCTTGGGAGTTATACCATGGCC -3'
Sequencing Primer
(F):5'- TCAGGTCTTCAACTCAGAGATATTG -3'
(R):5'- GGAGTTATACCATGGCCTTCTTGTC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation