Incidental Mutation 'R7123:Vmn2r104'
ID |
552164 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r104
|
Ensembl Gene |
ENSMUSG00000090315 |
Gene Name |
vomeronasal 2, receptor 104 |
Synonyms |
V2r7 |
MMRRC Submission |
045211-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R7123 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
20249687-20268467 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 20261088 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 445
(D445G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129895
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168050]
|
AlphaFold |
E9Q2J5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000168050
AA Change: D445G
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000129895 Gene: ENSMUSG00000090315 AA Change: D445G
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 |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
98% (52/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
G |
17: 24,484,949 (GRCm39) |
I1521T |
probably damaging |
Het |
Adgrv1 |
A |
T |
13: 81,740,693 (GRCm39) |
I145N |
probably damaging |
Het |
Ago3 |
C |
A |
4: 126,248,798 (GRCm39) |
|
probably null |
Het |
Agrn |
A |
T |
4: 156,257,297 (GRCm39) |
W1178R |
probably benign |
Het |
Akap3 |
A |
T |
6: 126,843,267 (GRCm39) |
I629L |
probably benign |
Het |
Aknad1 |
T |
G |
3: 108,682,560 (GRCm39) |
Y545* |
probably null |
Het |
Anapc1 |
C |
A |
2: 128,454,930 (GRCm39) |
V1925F |
probably damaging |
Het |
Barhl1 |
C |
T |
2: 28,799,943 (GRCm39) |
|
probably null |
Het |
Cfap157 |
T |
C |
2: 32,669,413 (GRCm39) |
E294G |
probably damaging |
Het |
Cfd |
G |
A |
10: 79,728,331 (GRCm39) |
G231S |
probably damaging |
Het |
Csf2ra |
A |
G |
19: 61,215,300 (GRCm39) |
V105A |
probably damaging |
Het |
Dhtkd1 |
A |
T |
2: 5,922,591 (GRCm39) |
W523R |
probably damaging |
Het |
Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
Dnajc22 |
A |
C |
15: 98,999,085 (GRCm39) |
Y90S |
possibly damaging |
Het |
Ebna1bp2 |
A |
G |
4: 118,482,772 (GRCm39) |
K254E |
probably damaging |
Het |
Gfpt1 |
A |
T |
6: 87,033,168 (GRCm39) |
D131V |
probably damaging |
Het |
Gm5460 |
A |
G |
14: 33,763,982 (GRCm39) |
I21V |
unknown |
Het |
H2-T9 |
A |
G |
17: 36,438,686 (GRCm39) |
I235T |
possibly damaging |
Het |
Htr1d |
C |
T |
4: 136,169,664 (GRCm39) |
|
probably benign |
Het |
Kndc1 |
G |
A |
7: 139,516,749 (GRCm39) |
E1570K |
probably damaging |
Het |
Kntc1 |
T |
C |
5: 123,919,789 (GRCm39) |
Y887H |
probably damaging |
Het |
Kti12 |
T |
C |
4: 108,705,679 (GRCm39) |
S198P |
probably benign |
Het |
Mcmdc2 |
A |
T |
1: 10,010,643 (GRCm39) |
I604F |
unknown |
Het |
Mmp8 |
A |
T |
9: 7,563,196 (GRCm39) |
D253V |
probably damaging |
Het |
Muc4 |
T |
C |
16: 32,569,509 (GRCm39) |
S252P |
possibly damaging |
Het |
Myo5c |
A |
G |
9: 75,196,505 (GRCm39) |
K1317R |
probably benign |
Het |
Ncoa7 |
T |
C |
10: 30,530,435 (GRCm39) |
I749V |
probably benign |
Het |
Nfrkb |
A |
G |
9: 31,325,311 (GRCm39) |
|
probably null |
Het |
Obscn |
T |
C |
11: 58,904,477 (GRCm39) |
T7166A |
probably benign |
Het |
Obsl1 |
A |
G |
1: 75,466,313 (GRCm39) |
S1472P |
probably damaging |
Het |
Or14j7 |
T |
A |
17: 38,234,567 (GRCm39) |
L37M |
probably benign |
Het |
Or1e20-ps1 |
T |
A |
11: 73,324,536 (GRCm39) |
D172V |
unknown |
Het |
Orc1 |
A |
C |
4: 108,445,884 (GRCm39) |
M1L |
probably damaging |
Het |
Pkd1 |
T |
A |
17: 24,813,742 (GRCm39) |
S4069T |
possibly damaging |
Het |
Pus1 |
T |
C |
5: 110,921,798 (GRCm39) |
*442W |
probably null |
Het |
Rgma |
A |
C |
7: 73,059,139 (GRCm39) |
D97A |
probably damaging |
Het |
Ryr1 |
T |
C |
7: 28,746,279 (GRCm39) |
K3834E |
probably benign |
Het |
Sars2 |
T |
C |
7: 28,452,866 (GRCm39) |
V475A |
probably benign |
Het |
Scamp2 |
A |
T |
9: 57,494,385 (GRCm39) |
T253S |
probably benign |
Het |
Skint9 |
C |
T |
4: 112,248,174 (GRCm39) |
W190* |
probably null |
Het |
Spata31d1e |
G |
A |
13: 59,891,254 (GRCm39) |
Q189* |
probably null |
Het |
Sv2b |
C |
T |
7: 74,767,450 (GRCm39) |
V649I |
possibly damaging |
Het |
Synpo2 |
A |
G |
3: 122,906,835 (GRCm39) |
V827A |
probably benign |
Het |
Tiparp |
A |
T |
3: 65,460,948 (GRCm39) |
I646F |
probably damaging |
Het |
Topaz1 |
G |
A |
9: 122,577,480 (GRCm39) |
G130D |
probably damaging |
Het |
Trio |
TACCTTGTTACTGAGCCCTTCTCACCTTCACAGACACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC |
TACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC |
15: 27,742,399 (GRCm39) |
|
probably benign |
Het |
Ttll7 |
C |
T |
3: 146,619,051 (GRCm39) |
P319S |
possibly damaging |
Het |
Umodl1 |
T |
A |
17: 31,201,318 (GRCm39) |
F416I |
possibly damaging |
Het |
Wnk2 |
A |
G |
13: 49,235,462 (GRCm39) |
V651A |
possibly damaging |
Het |
Zbtb21 |
C |
T |
16: 97,751,112 (GRCm39) |
S1057N |
probably damaging |
Het |
Zfp451 |
A |
T |
1: 33,815,950 (GRCm39) |
C667S |
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 |
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 |
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'- CAAAAGCGAGTATACTAATGTTGCC -3'
(R):5'- TGAATACTCCGGTTTTCACTTAGTC -3'
Sequencing Primer
(F):5'- CTGGCCATTGAATTATCTGTTCAG -3'
(R):5'- CGGTTTTCACTTAGTCATCAATAATG -3'
|
Posted On |
2019-05-15 |