Incidental Mutation 'R0091:Vmn2r104'
ID |
20244 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r104
|
Ensembl Gene |
ENSMUSG00000090315 |
Gene Name |
vomeronasal 2, receptor 104 |
Synonyms |
V2r7 |
MMRRC Submission |
038378-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R0091 (G1)
|
Quality Score |
175 |
Status
|
Validated
(trace)
|
Chromosome |
17 |
Chromosomal Location |
20249687-20268467 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 20262075 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 352
(I352F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129895
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168050]
|
AlphaFold |
E9Q2J5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168050
AA Change: I352F
PolyPhen 2
Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000129895 Gene: ENSMUSG00000090315 AA Change: I352F
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 |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.9%
- 10x: 94.4%
- 20x: 84.5%
|
Validation Efficiency |
98% (86/88) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
C |
3: 121,932,179 (GRCm39) |
S278P |
possibly damaging |
Het |
Adam11 |
A |
G |
11: 102,663,665 (GRCm39) |
Y281C |
probably damaging |
Het |
Adam6a |
G |
T |
12: 113,507,849 (GRCm39) |
R74L |
possibly damaging |
Het |
Adcy5 |
T |
C |
16: 35,091,368 (GRCm39) |
|
probably null |
Het |
Adrb2 |
A |
G |
18: 62,312,090 (GRCm39) |
L245P |
probably benign |
Het |
Aebp2 |
T |
C |
6: 140,589,800 (GRCm39) |
|
probably null |
Het |
Arhgap23 |
A |
G |
11: 97,343,070 (GRCm39) |
T240A |
probably benign |
Het |
Atp10a |
T |
C |
7: 58,423,794 (GRCm39) |
|
probably benign |
Het |
Atp13a4 |
T |
A |
16: 29,274,213 (GRCm39) |
Y416F |
probably damaging |
Het |
Atp5mc2 |
A |
C |
15: 102,571,492 (GRCm39) |
L133R |
probably damaging |
Het |
Bicral |
A |
T |
17: 47,136,233 (GRCm39) |
Y326N |
probably damaging |
Het |
Chst4 |
T |
C |
8: 110,757,297 (GRCm39) |
S189G |
probably damaging |
Het |
Cnot1 |
A |
T |
8: 96,489,772 (GRCm39) |
I477N |
probably damaging |
Het |
Col7a1 |
G |
T |
9: 108,796,574 (GRCm39) |
|
probably benign |
Het |
Dchs1 |
A |
G |
7: 105,415,301 (GRCm39) |
|
probably benign |
Het |
Dcn |
A |
G |
10: 97,342,551 (GRCm39) |
N169S |
probably benign |
Het |
Dnajc6 |
T |
C |
4: 101,473,974 (GRCm39) |
|
probably benign |
Het |
Egln3 |
A |
G |
12: 54,228,432 (GRCm39) |
F225L |
probably benign |
Het |
Erap1 |
G |
A |
13: 74,816,171 (GRCm39) |
R100Q |
possibly damaging |
Het |
Erc2 |
A |
T |
14: 27,498,781 (GRCm39) |
|
probably null |
Het |
Fto |
G |
A |
8: 92,168,435 (GRCm39) |
|
probably null |
Het |
Gdap1l1 |
C |
T |
2: 163,288,011 (GRCm39) |
P80S |
probably damaging |
Het |
Gm1123 |
T |
C |
9: 98,905,405 (GRCm39) |
E35G |
possibly damaging |
Het |
Hhipl1 |
A |
G |
12: 108,288,156 (GRCm39) |
|
probably benign |
Het |
Ift80 |
A |
T |
3: 68,822,008 (GRCm39) |
L679Q |
probably damaging |
Het |
Il18 |
A |
G |
9: 50,488,013 (GRCm39) |
|
probably benign |
Het |
Inhbb |
T |
C |
1: 119,345,125 (GRCm39) |
Y388C |
probably damaging |
Het |
Kmt2d |
G |
T |
15: 98,742,360 (GRCm39) |
|
probably benign |
Het |
Krt20 |
A |
G |
11: 99,328,640 (GRCm39) |
V95A |
probably damaging |
Het |
Lck |
A |
T |
4: 129,449,474 (GRCm39) |
S274R |
possibly damaging |
Het |
Lrp1 |
T |
A |
10: 127,376,848 (GRCm39) |
N4243I |
probably damaging |
Het |
Lrrfip2 |
G |
A |
9: 111,043,311 (GRCm39) |
V506I |
probably damaging |
Het |
Ltbp2 |
A |
G |
12: 84,840,507 (GRCm39) |
C1000R |
probably damaging |
Het |
Matn3 |
G |
A |
12: 9,002,105 (GRCm39) |
D106N |
probably damaging |
Het |
Mical2 |
A |
G |
7: 111,980,503 (GRCm39) |
E49G |
probably benign |
Het |
Mmadhc |
A |
G |
2: 50,182,869 (GRCm39) |
S36P |
probably damaging |
Het |
Morn1 |
T |
C |
4: 155,229,629 (GRCm39) |
Y433H |
probably damaging |
Het |
Mpo |
A |
G |
11: 87,692,436 (GRCm39) |
M525V |
probably benign |
Het |
Myo5a |
C |
T |
9: 75,068,774 (GRCm39) |
R659C |
probably damaging |
Het |
Obox6 |
T |
C |
7: 15,568,364 (GRCm39) |
S171G |
probably benign |
Het |
Or1j18 |
A |
G |
2: 36,624,917 (GRCm39) |
N195D |
probably damaging |
Het |
Or4k36 |
T |
A |
2: 111,146,518 (GRCm39) |
D231E |
probably benign |
Het |
Or5g29 |
A |
T |
2: 85,421,696 (GRCm39) |
N271Y |
probably benign |
Het |
P2ry14 |
A |
G |
3: 59,023,314 (GRCm39) |
Y49H |
probably benign |
Het |
Papss2 |
C |
T |
19: 32,611,302 (GRCm39) |
T17I |
possibly damaging |
Het |
Pcid2 |
T |
C |
8: 13,135,392 (GRCm39) |
T206A |
probably benign |
Het |
Pex6 |
A |
G |
17: 47,022,844 (GRCm39) |
E140G |
probably damaging |
Het |
Ppp1r3b |
A |
G |
8: 35,851,821 (GRCm39) |
Y220C |
probably damaging |
Het |
Prdx2 |
T |
G |
8: 85,698,330 (GRCm39) |
|
probably benign |
Het |
Ptbp2 |
A |
T |
3: 119,514,310 (GRCm39) |
L471Q |
probably damaging |
Het |
Rbm33 |
T |
A |
5: 28,557,604 (GRCm39) |
D232E |
possibly damaging |
Het |
Rnf214 |
T |
A |
9: 45,809,791 (GRCm39) |
|
probably null |
Het |
Rora |
G |
A |
9: 69,281,330 (GRCm39) |
R314H |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,168,095 (GRCm39) |
|
probably benign |
Het |
Sag |
T |
C |
1: 87,742,402 (GRCm39) |
V58A |
probably damaging |
Het |
Serpina3i |
C |
T |
12: 104,231,423 (GRCm39) |
T20M |
probably damaging |
Het |
Slc4a5 |
A |
G |
6: 83,254,537 (GRCm39) |
N578S |
probably benign |
Het |
Soat2 |
A |
G |
15: 102,066,574 (GRCm39) |
Y285C |
probably damaging |
Het |
Syk |
A |
G |
13: 52,794,769 (GRCm39) |
Y478C |
probably damaging |
Het |
Syne4 |
G |
A |
7: 30,018,344 (GRCm39) |
G362E |
probably damaging |
Het |
Tas2r126 |
A |
T |
6: 42,412,036 (GRCm39) |
M190L |
probably benign |
Het |
Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
Ttc19 |
A |
G |
11: 62,199,910 (GRCm39) |
D218G |
probably damaging |
Het |
Tut1 |
T |
C |
19: 8,942,800 (GRCm39) |
V629A |
probably damaging |
Het |
Txndc11 |
T |
C |
16: 10,905,968 (GRCm39) |
N521D |
probably benign |
Het |
Ushbp1 |
T |
C |
8: 71,841,614 (GRCm39) |
E405G |
possibly damaging |
Het |
Usp46 |
C |
T |
5: 74,163,918 (GRCm39) |
R246Q |
probably benign |
Het |
Utrn |
T |
C |
10: 12,610,948 (GRCm39) |
D469G |
probably damaging |
Het |
Wdr4 |
G |
A |
17: 31,715,890 (GRCm39) |
T398I |
probably benign |
Het |
Ythdc1 |
T |
A |
5: 86,968,560 (GRCm39) |
|
probably benign |
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 |
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 |
20,250,372 (GRCm39) |
missense |
probably benign |
0.02 |
R5795:Vmn2r104
|
UTSW |
17 |
20,250,544 (GRCm39) |
missense |
possibly damaging |
0.89 |
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 |
R5992:Vmn2r104
|
UTSW |
17 |
20,249,747 (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'- GCTGTGAGCCAGAGCATATACACC -3'
(R):5'- GATTGGCCTCATCATCCCCGATAAC -3'
Sequencing Primer
(F):5'- GTGCTCTCTTCACTCATGACA -3'
(R):5'- AGCCACATGGACCTCATATTTTAC -3'
|
Posted On |
2013-04-11 |