Incidental Mutation 'R9414:Vmn2r104'
ID |
711971 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r104
|
Ensembl Gene |
ENSMUSG00000090315 |
Gene Name |
vomeronasal 2, receptor 104 |
Synonyms |
V2r7 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R9414 (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 A
at 20250250 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 674
(I674F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129895
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168050]
|
AlphaFold |
E9Q2J5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168050
AA Change: I674F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000129895 Gene: ENSMUSG00000090315 AA Change: I674F
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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.7%
|
Validation Efficiency |
98% (59/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
A |
T |
11: 110,035,100 (GRCm39) |
I689K |
probably damaging |
Het |
Agtpbp1 |
G |
T |
13: 59,609,902 (GRCm39) |
T1076K |
probably damaging |
Het |
Ammecr1l |
A |
G |
18: 31,904,962 (GRCm39) |
T68A |
probably benign |
Het |
Arvcf |
A |
G |
16: 18,215,580 (GRCm39) |
E264G |
probably damaging |
Het |
Cacna1b |
C |
T |
2: 24,538,514 (GRCm39) |
D1542N |
probably damaging |
Het |
Cacna2d2 |
A |
G |
9: 107,392,395 (GRCm39) |
T512A |
probably damaging |
Het |
Crebbp |
A |
G |
16: 3,925,356 (GRCm39) |
C1213R |
probably damaging |
Het |
Cybrd1 |
G |
T |
2: 70,948,567 (GRCm39) |
R35L |
probably damaging |
Het |
Dcaf1 |
G |
A |
9: 106,757,158 (GRCm39) |
W1412* |
probably null |
Het |
Eif4e |
T |
A |
3: 138,253,495 (GRCm39) |
D67E |
probably benign |
Het |
Epb41 |
G |
A |
4: 131,702,162 (GRCm39) |
T491I |
probably damaging |
Het |
Fez1 |
G |
A |
9: 36,779,247 (GRCm39) |
S308N |
probably benign |
Het |
Fgfr3 |
A |
G |
5: 33,887,298 (GRCm39) |
S206G |
possibly damaging |
Het |
Flcn |
A |
T |
11: 59,684,998 (GRCm39) |
N484K |
possibly damaging |
Het |
Gdap2 |
T |
C |
3: 100,090,071 (GRCm39) |
|
probably null |
Het |
Gfpt1 |
T |
A |
6: 87,062,265 (GRCm39) |
D541E |
probably benign |
Het |
Gm5089 |
A |
G |
14: 122,673,604 (GRCm39) |
F39S |
unknown |
Het |
Gm7694 |
C |
T |
1: 170,130,173 (GRCm39) |
G75D |
probably benign |
Het |
Gpr15 |
A |
G |
16: 58,538,516 (GRCm39) |
L191S |
probably benign |
Het |
Hmcn1 |
T |
G |
1: 150,545,187 (GRCm39) |
T2807P |
probably damaging |
Het |
Iqgap2 |
T |
C |
13: 95,783,349 (GRCm39) |
T1276A |
|
Het |
Itgae |
G |
T |
11: 73,002,629 (GRCm39) |
A129S |
possibly damaging |
Het |
Kcns1 |
T |
C |
2: 164,010,378 (GRCm39) |
E127G |
probably damaging |
Het |
Kmt2b |
T |
C |
7: 30,282,307 (GRCm39) |
E1118G |
probably damaging |
Het |
Lair1 |
T |
C |
7: 4,013,819 (GRCm39) |
I143V |
probably benign |
Het |
Lcmt2 |
T |
C |
2: 120,970,621 (GRCm39) |
D154G |
possibly damaging |
Het |
Ly9 |
T |
C |
1: 171,427,275 (GRCm39) |
T427A |
probably damaging |
Het |
Man2c1 |
A |
G |
9: 57,044,030 (GRCm39) |
T281A |
possibly damaging |
Het |
Map4k2 |
T |
C |
19: 6,394,515 (GRCm39) |
F332L |
probably benign |
Het |
Meak7 |
A |
T |
8: 120,495,081 (GRCm39) |
S226T |
probably benign |
Het |
Mmp10 |
A |
T |
9: 7,502,489 (GRCm39) |
D32V |
probably benign |
Het |
Mroh2a |
C |
T |
1: 88,179,096 (GRCm39) |
R1110W |
probably benign |
Het |
Naip2 |
T |
A |
13: 100,298,243 (GRCm39) |
S598C |
probably damaging |
Het |
Npnt |
T |
C |
3: 132,612,116 (GRCm39) |
N300S |
probably benign |
Het |
Or13a20 |
C |
A |
7: 140,232,263 (GRCm39) |
R124S |
probably damaging |
Het |
Or5b95 |
T |
C |
19: 12,657,712 (GRCm39) |
V80A |
probably benign |
Het |
Or5k15 |
G |
A |
16: 58,710,565 (GRCm39) |
T6I |
probably benign |
Het |
Pacsin1 |
T |
C |
17: 27,926,985 (GRCm39) |
V387A |
probably damaging |
Het |
Pald1 |
G |
T |
10: 61,178,932 (GRCm39) |
A489E |
probably benign |
Het |
Pcnx1 |
G |
T |
12: 81,964,978 (GRCm39) |
G382W |
probably damaging |
Het |
Pde6b |
T |
A |
5: 108,567,592 (GRCm39) |
M294K |
possibly damaging |
Het |
Phf20 |
T |
C |
2: 156,136,167 (GRCm39) |
V662A |
probably benign |
Het |
Plcg1 |
T |
C |
2: 160,603,276 (GRCm39) |
I1149T |
possibly damaging |
Het |
Prdx2 |
T |
C |
8: 85,697,196 (GRCm39) |
S79P |
probably damaging |
Het |
Rab19 |
T |
C |
6: 39,360,855 (GRCm39) |
M1T |
probably null |
Het |
Retn |
T |
G |
8: 3,706,908 (GRCm39) |
F44C |
probably damaging |
Het |
Rp1 |
A |
T |
1: 4,313,841 (GRCm39) |
W507R |
unknown |
Het |
Rsf1 |
A |
C |
7: 97,313,765 (GRCm39) |
|
probably null |
Het |
Ryr3 |
C |
T |
2: 112,501,011 (GRCm39) |
E3561K |
possibly damaging |
Het |
Scaf1 |
T |
A |
7: 44,652,716 (GRCm39) |
Y1220F |
unknown |
Het |
Sowahc |
A |
G |
10: 59,058,491 (GRCm39) |
K209R |
probably benign |
Het |
Supt20 |
T |
A |
3: 54,610,504 (GRCm39) |
I103N |
probably damaging |
Het |
Tenm4 |
A |
G |
7: 96,545,367 (GRCm39) |
E2498G |
probably benign |
Het |
Tet1 |
T |
C |
10: 62,674,935 (GRCm39) |
N1047S |
probably benign |
Het |
Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
Tub |
T |
A |
7: 108,626,265 (GRCm39) |
I267N |
probably damaging |
Het |
Uggt1 |
T |
C |
1: 36,223,507 (GRCm39) |
E594G |
probably benign |
Het |
Zbed6 |
T |
C |
1: 133,585,015 (GRCm39) |
D774G |
probably damaging |
Het |
Zcchc4 |
T |
C |
5: 52,953,964 (GRCm39) |
S215P |
probably benign |
Het |
Zfc3h1 |
T |
G |
10: 115,249,916 (GRCm39) |
S1177A |
possibly damaging |
Het |
Zfp646 |
G |
A |
7: 127,481,050 (GRCm39) |
A1076T |
probably damaging |
Het |
Zfp735 |
T |
A |
11: 73,602,023 (GRCm39) |
Y322* |
probably null |
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 |
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 |
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'- AACAGCTGAGCCCTTGTTGC -3'
(R):5'- AGACACTCCTATTGTCAAGGCC -3'
Sequencing Primer
(F):5'- CTGAGCCCTTGTTGCACAAAAGG -3'
(R):5'- CTCCTATTGTCAAGGCCAATAATCGG -3'
|
Posted On |
2022-05-16 |