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: 0.108)
|
Stock # |
R5992 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
20249687-20268467 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 20249747 bp (GRCm39)
|
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: 45,819,549 (GRCm39) |
L188* |
probably null |
Het |
Acod1 |
C |
T |
14: 103,292,471 (GRCm39) |
R332C |
probably damaging |
Het |
Adamts3 |
T |
A |
5: 89,839,194 (GRCm39) |
K852M |
probably damaging |
Het |
Adm |
A |
T |
7: 110,226,903 (GRCm39) |
|
probably benign |
Het |
Aff4 |
A |
G |
11: 53,263,837 (GRCm39) |
S286G |
probably damaging |
Het |
Ank2 |
A |
G |
3: 126,753,300 (GRCm39) |
|
probably null |
Het |
Aqr |
A |
T |
2: 113,973,530 (GRCm39) |
Y427* |
probably null |
Het |
Arid1b |
C |
A |
17: 5,045,231 (GRCm39) |
|
probably benign |
Het |
Arpp21 |
T |
A |
9: 111,972,553 (GRCm39) |
R259* |
probably null |
Het |
Cep290 |
C |
T |
10: 100,379,183 (GRCm39) |
A55V |
possibly damaging |
Het |
Chsy3 |
GT |
G |
18: 59,309,238 (GRCm39) |
163 |
probably null |
Het |
Clcn2 |
T |
C |
16: 20,532,404 (GRCm39) |
E68G |
possibly damaging |
Het |
Corin |
T |
A |
5: 72,473,732 (GRCm39) |
H699L |
probably benign |
Het |
Cyld |
T |
C |
8: 89,459,681 (GRCm39) |
Y446H |
probably damaging |
Het |
Dcst1 |
T |
A |
3: 89,259,883 (GRCm39) |
E613V |
probably damaging |
Het |
Dlk1 |
T |
C |
12: 109,421,507 (GRCm39) |
C74R |
probably damaging |
Het |
Dnah12 |
A |
C |
14: 26,418,496 (GRCm39) |
K128T |
probably benign |
Het |
Dspp |
T |
A |
5: 104,326,317 (GRCm39) |
S893R |
unknown |
Het |
Dtl |
A |
T |
1: 191,300,684 (GRCm39) |
|
probably null |
Het |
F2rl1 |
T |
A |
13: 95,650,778 (GRCm39) |
S35C |
probably benign |
Het |
Fcgbp |
A |
T |
7: 27,819,959 (GRCm39) |
Y2562F |
probably benign |
Het |
Fgf10 |
A |
T |
13: 118,852,044 (GRCm39) |
D42V |
probably benign |
Het |
Gm10271 |
A |
T |
10: 116,808,497 (GRCm39) |
F6L |
probably damaging |
Het |
Gm21190 |
T |
A |
5: 15,729,849 (GRCm39) |
E256D |
probably damaging |
Het |
Gm5157 |
A |
G |
7: 20,919,346 (GRCm39) |
S66P |
probably damaging |
Het |
Hal |
T |
G |
10: 93,326,778 (GRCm39) |
L138R |
probably damaging |
Het |
Hsd17b3 |
T |
C |
13: 64,207,284 (GRCm39) |
|
probably null |
Het |
Lrrc37 |
A |
T |
11: 103,504,618 (GRCm39) |
M2450K |
possibly damaging |
Het |
Lrsam1 |
T |
C |
2: 32,845,234 (GRCm39) |
T94A |
probably benign |
Het |
Macc1 |
T |
C |
12: 119,411,320 (GRCm39) |
V696A |
probably damaging |
Het |
Magi2 |
G |
A |
5: 19,432,289 (GRCm39) |
M1I |
probably null |
Het |
Marchf7 |
C |
A |
2: 60,075,564 (GRCm39) |
N674K |
probably benign |
Het |
Mfap1b |
A |
G |
2: 121,300,776 (GRCm39) |
V34A |
probably benign |
Het |
Mob3b |
G |
A |
4: 35,084,069 (GRCm39) |
S40L |
probably benign |
Het |
Ndufs2 |
A |
T |
1: 171,063,987 (GRCm39) |
V386E |
probably damaging |
Het |
Nfic |
C |
T |
10: 81,256,581 (GRCm39) |
A19T |
probably damaging |
Het |
Nfs1 |
G |
A |
2: 155,976,373 (GRCm39) |
R174W |
probably damaging |
Het |
Nin |
G |
T |
12: 70,092,298 (GRCm39) |
S670R |
possibly damaging |
Het |
Nrxn1 |
T |
C |
17: 90,930,935 (GRCm39) |
I754V |
probably benign |
Het |
Nwd1 |
T |
C |
8: 73,380,201 (GRCm39) |
|
probably null |
Het |
Or4a39 |
T |
A |
2: 89,237,223 (GRCm39) |
M67L |
probably benign |
Het |
Or4c1 |
T |
A |
2: 89,133,703 (GRCm39) |
T78S |
possibly damaging |
Het |
Or51a6 |
G |
T |
7: 102,604,216 (GRCm39) |
N197K |
probably benign |
Het |
Pcdhgb8 |
A |
G |
18: 37,896,502 (GRCm39) |
E524G |
probably damaging |
Het |
Phlpp1 |
A |
T |
1: 106,246,723 (GRCm39) |
R638* |
probably null |
Het |
Pkmyt1 |
G |
C |
17: 23,954,300 (GRCm39) |
W360S |
probably benign |
Het |
Plxnd1 |
C |
A |
6: 115,944,748 (GRCm39) |
|
probably null |
Het |
Poldip3 |
A |
T |
15: 83,013,430 (GRCm39) |
N322K |
probably damaging |
Het |
Prmt3 |
A |
T |
7: 49,478,695 (GRCm39) |
I419L |
probably benign |
Het |
Prss36 |
A |
T |
7: 127,544,002 (GRCm39) |
V123E |
probably damaging |
Het |
Prss58 |
A |
G |
6: 40,874,703 (GRCm39) |
I46T |
probably damaging |
Het |
Rac1 |
T |
C |
5: 143,492,753 (GRCm39) |
|
probably benign |
Het |
Rb1cc1 |
A |
G |
1: 6,304,220 (GRCm39) |
Y36C |
probably damaging |
Het |
Rif1 |
C |
G |
2: 51,985,856 (GRCm39) |
L614V |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rp1 |
A |
T |
1: 4,218,926 (GRCm39) |
F951L |
unknown |
Het |
Rps6ka5 |
G |
T |
12: 100,541,509 (GRCm39) |
P417T |
possibly damaging |
Het |
Ryr1 |
A |
G |
7: 28,767,062 (GRCm39) |
W2967R |
probably damaging |
Het |
Sacs |
T |
A |
14: 61,442,992 (GRCm39) |
S1679R |
probably damaging |
Het |
Scn1a |
A |
C |
2: 66,165,800 (GRCm39) |
W153G |
probably damaging |
Het |
Serpinb7 |
A |
G |
1: 107,373,726 (GRCm39) |
Y114C |
probably damaging |
Het |
Son |
T |
C |
16: 91,455,792 (GRCm39) |
M1513T |
probably benign |
Het |
Spag8 |
C |
T |
4: 43,651,534 (GRCm39) |
V447M |
probably benign |
Het |
St3gal2 |
T |
A |
8: 111,696,185 (GRCm39) |
Y257N |
probably damaging |
Het |
Tars1 |
A |
T |
15: 11,397,282 (GRCm39) |
D40E |
probably damaging |
Het |
Tlr3 |
T |
C |
8: 45,850,851 (GRCm39) |
H158R |
probably benign |
Het |
Tppp2 |
G |
T |
14: 52,156,392 (GRCm39) |
V50L |
probably benign |
Het |
Trrap |
T |
C |
5: 144,746,994 (GRCm39) |
S1503P |
probably benign |
Het |
Ttll4 |
T |
G |
1: 74,724,550 (GRCm39) |
S573R |
probably damaging |
Het |
Vmn2r3 |
A |
T |
3: 64,167,068 (GRCm39) |
C688S |
probably damaging |
Het |
Vps16 |
T |
C |
2: 130,266,369 (GRCm39) |
|
probably null |
Het |
Zfp608 |
G |
A |
18: 55,032,320 (GRCm39) |
T540I |
probably benign |
Het |
Zfp775 |
G |
A |
6: 48,596,750 (GRCm39) |
R208Q |
probably damaging |
Het |
|
Other mutations in Vmn2r104 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00427:Vmn2r104
|
APN |
17 |
20,258,501 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01098:Vmn2r104
|
APN |
17 |
20,268,358 (GRCm39) |
missense |
probably benign |
0.27 |
IGL01333:Vmn2r104
|
APN |
17 |
20,263,055 (GRCm39) |
missense |
probably benign |
0.17 |
IGL01527:Vmn2r104
|
APN |
17 |
20,263,158 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL01773:Vmn2r104
|
APN |
17 |
20,260,930 (GRCm39) |
missense |
probably benign |
0.10 |
IGL01939:Vmn2r104
|
APN |
17 |
20,250,187 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02121:Vmn2r104
|
APN |
17 |
20,262,056 (GRCm39) |
nonsense |
probably null |
|
IGL02305:Vmn2r104
|
APN |
17 |
20,263,118 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02374:Vmn2r104
|
APN |
17 |
20,263,048 (GRCm39) |
missense |
probably benign |
0.34 |
IGL03260:Vmn2r104
|
APN |
17 |
20,263,083 (GRCm39) |
missense |
probably benign |
0.05 |
IGL03366:Vmn2r104
|
APN |
17 |
20,249,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R0091:Vmn2r104
|
UTSW |
17 |
20,262,075 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0125:Vmn2r104
|
UTSW |
17 |
20,250,069 (GRCm39) |
missense |
probably damaging |
0.98 |
R0257:Vmn2r104
|
UTSW |
17 |
20,249,889 (GRCm39) |
missense |
probably damaging |
1.00 |
R0381:Vmn2r104
|
UTSW |
17 |
20,268,264 (GRCm39) |
nonsense |
probably null |
|
R0709:Vmn2r104
|
UTSW |
17 |
20,263,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R0786:Vmn2r104
|
UTSW |
17 |
20,262,987 (GRCm39) |
missense |
probably benign |
|
R1575:Vmn2r104
|
UTSW |
17 |
20,262,477 (GRCm39) |
missense |
probably damaging |
1.00 |
R1827:Vmn2r104
|
UTSW |
17 |
20,262,497 (GRCm39) |
missense |
probably damaging |
0.97 |
R1932:Vmn2r104
|
UTSW |
17 |
20,261,031 (GRCm39) |
missense |
probably damaging |
1.00 |
R1956:Vmn2r104
|
UTSW |
17 |
20,262,313 (GRCm39) |
missense |
probably damaging |
0.98 |
R2203:Vmn2r104
|
UTSW |
17 |
20,250,083 (GRCm39) |
missense |
probably benign |
0.05 |
R2205:Vmn2r104
|
UTSW |
17 |
20,250,083 (GRCm39) |
missense |
probably benign |
0.05 |
R2859:Vmn2r104
|
UTSW |
17 |
20,268,455 (GRCm39) |
missense |
possibly damaging |
0.82 |
R3701:Vmn2r104
|
UTSW |
17 |
20,249,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R3834:Vmn2r104
|
UTSW |
17 |
20,250,183 (GRCm39) |
missense |
probably benign |
0.02 |
R4151:Vmn2r104
|
UTSW |
17 |
20,250,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R4470:Vmn2r104
|
UTSW |
17 |
20,262,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R4625:Vmn2r104
|
UTSW |
17 |
20,268,443 (GRCm39) |
missense |
probably benign |
0.00 |
R4754:Vmn2r104
|
UTSW |
17 |
20,261,030 (GRCm39) |
nonsense |
probably null |
|
R4911:Vmn2r104
|
UTSW |
17 |
20,250,288 (GRCm39) |
missense |
probably benign |
0.00 |
R5270:Vmn2r104
|
UTSW |
17 |
20,258,528 (GRCm39) |
missense |
probably damaging |
1.00 |
R5279:Vmn2r104
|
UTSW |
17 |
20,262,146 (GRCm39) |
missense |
probably benign |
0.07 |
R5311:Vmn2r104
|
UTSW |
17 |
20,250,163 (GRCm39) |
missense |
probably damaging |
1.00 |
R5370:Vmn2r104
|
UTSW |
17 |
20,250,450 (GRCm39) |
missense |
probably damaging |
0.97 |
R5461:Vmn2r104
|
UTSW |
17 |
20,250,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R5683:Vmn2r104
|
UTSW |
17 |
20,260,981 (GRCm39) |
nonsense |
probably null |
|
R5795:Vmn2r104
|
UTSW |
17 |
20,250,544 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5795:Vmn2r104
|
UTSW |
17 |
20,250,372 (GRCm39) |
missense |
probably benign |
0.02 |
R5970:Vmn2r104
|
UTSW |
17 |
20,249,733 (GRCm39) |
missense |
probably benign |
0.01 |
R5983:Vmn2r104
|
UTSW |
17 |
20,261,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R6066:Vmn2r104
|
UTSW |
17 |
20,258,573 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6156:Vmn2r104
|
UTSW |
17 |
20,261,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R6182:Vmn2r104
|
UTSW |
17 |
20,250,507 (GRCm39) |
missense |
probably benign |
0.16 |
R6245:Vmn2r104
|
UTSW |
17 |
20,261,829 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6333:Vmn2r104
|
UTSW |
17 |
20,249,848 (GRCm39) |
missense |
probably benign |
0.30 |
R6573:Vmn2r104
|
UTSW |
17 |
20,262,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R7101:Vmn2r104
|
UTSW |
17 |
20,250,358 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7123:Vmn2r104
|
UTSW |
17 |
20,261,088 (GRCm39) |
missense |
probably benign |
0.12 |
R7485:Vmn2r104
|
UTSW |
17 |
20,249,737 (GRCm39) |
missense |
probably benign |
0.01 |
R7514:Vmn2r104
|
UTSW |
17 |
20,249,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R7634:Vmn2r104
|
UTSW |
17 |
20,261,971 (GRCm39) |
missense |
possibly damaging |
0.48 |
R7958:Vmn2r104
|
UTSW |
17 |
20,262,988 (GRCm39) |
missense |
probably benign |
|
R8031:Vmn2r104
|
UTSW |
17 |
20,263,048 (GRCm39) |
missense |
probably benign |
0.34 |
R8094:Vmn2r104
|
UTSW |
17 |
20,250,483 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8191:Vmn2r104
|
UTSW |
17 |
20,250,465 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8308:Vmn2r104
|
UTSW |
17 |
20,261,040 (GRCm39) |
missense |
possibly damaging |
0.55 |
R8691:Vmn2r104
|
UTSW |
17 |
20,262,110 (GRCm39) |
missense |
probably damaging |
0.98 |
R8795:Vmn2r104
|
UTSW |
17 |
20,262,988 (GRCm39) |
missense |
probably benign |
|
R8900:Vmn2r104
|
UTSW |
17 |
20,261,924 (GRCm39) |
missense |
probably damaging |
0.99 |
R8913:Vmn2r104
|
UTSW |
17 |
20,249,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R9180:Vmn2r104
|
UTSW |
17 |
20,263,087 (GRCm39) |
missense |
probably benign |
0.00 |
R9199:Vmn2r104
|
UTSW |
17 |
20,262,097 (GRCm39) |
missense |
probably damaging |
0.99 |
R9282:Vmn2r104
|
UTSW |
17 |
20,261,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R9303:Vmn2r104
|
UTSW |
17 |
20,268,439 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9305:Vmn2r104
|
UTSW |
17 |
20,268,439 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9322:Vmn2r104
|
UTSW |
17 |
20,263,087 (GRCm39) |
missense |
probably benign |
0.00 |
R9325:Vmn2r104
|
UTSW |
17 |
20,268,433 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9414:Vmn2r104
|
UTSW |
17 |
20,250,250 (GRCm39) |
missense |
probably damaging |
0.99 |
R9785:Vmn2r104
|
UTSW |
17 |
20,268,409 (GRCm39) |
missense |
probably benign |
|
RF007:Vmn2r104
|
UTSW |
17 |
20,268,302 (GRCm39) |
missense |
probably benign |
0.36 |
Z1177:Vmn2r104
|
UTSW |
17 |
20,250,051 (GRCm39) |
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 |