Incidental Mutation 'R7246:Vmn2r93'
ID |
563571 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r93
|
Ensembl Gene |
ENSMUSG00000079698 |
Gene Name |
vomeronasal 2, receptor 93 |
Synonyms |
EG627132 |
MMRRC Submission |
045309-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.084)
|
Stock # |
R7246 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
18518543-18546703 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 18546012 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 628
(T628I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078200
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079206]
[ENSMUST00000231879]
[ENSMUST00000231938]
|
AlphaFold |
L7N1Z9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079206
AA Change: T628I
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000078200 Gene: ENSMUSG00000079698 AA Change: T628I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
82 |
453 |
5.9e-40 |
PFAM |
Pfam:NCD3G
|
509 |
562 |
2.6e-21 |
PFAM |
Pfam:7tm_3
|
594 |
830 |
1.5e-50 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231879
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231938
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
97% (74/76) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921524L21Rik |
T |
A |
18: 6,635,902 (GRCm39) |
S318R |
probably damaging |
Het |
Abce1 |
A |
T |
8: 80,429,698 (GRCm39) |
N74K |
probably damaging |
Het |
Akr1b7 |
T |
A |
6: 34,392,404 (GRCm39) |
D72E |
probably benign |
Het |
Amer3 |
T |
A |
1: 34,625,809 (GRCm39) |
I16N |
possibly damaging |
Het |
Atp6v0d1 |
T |
C |
8: 106,257,606 (GRCm39) |
N108D |
probably damaging |
Het |
Avpr1b |
T |
C |
1: 131,528,008 (GRCm39) |
V177A |
probably damaging |
Het |
B020011L13Rik |
A |
T |
1: 117,728,969 (GRCm39) |
K159* |
probably null |
Het |
Bpifb1 |
T |
C |
2: 154,049,012 (GRCm39) |
L172P |
probably damaging |
Het |
Brca1 |
G |
A |
11: 101,414,204 (GRCm39) |
T1310I |
probably benign |
Het |
C130074G19Rik |
C |
A |
1: 184,615,166 (GRCm39) |
R8L |
probably damaging |
Het |
Ccdc178 |
T |
C |
18: 22,242,811 (GRCm39) |
H268R |
possibly damaging |
Het |
Cdc42ep5 |
A |
G |
7: 4,154,473 (GRCm39) |
V105A |
possibly damaging |
Het |
Cntn4 |
T |
C |
6: 106,483,180 (GRCm39) |
L245P |
probably damaging |
Het |
Crtac1 |
T |
C |
19: 42,276,365 (GRCm39) |
E521G |
probably benign |
Het |
Cts7 |
T |
A |
13: 61,503,394 (GRCm39) |
N190I |
probably damaging |
Het |
Cul7 |
A |
G |
17: 46,972,993 (GRCm39) |
E1368G |
probably benign |
Het |
Dhrs7l |
A |
T |
12: 72,666,266 (GRCm39) |
M89K |
possibly damaging |
Het |
Dpp10 |
G |
A |
1: 123,262,106 (GRCm39) |
P759S |
probably damaging |
Het |
Etf1 |
A |
G |
18: 35,064,964 (GRCm39) |
S11P |
unknown |
Het |
Exd2 |
G |
T |
12: 80,527,309 (GRCm39) |
L167F |
probably damaging |
Het |
Exoc8 |
T |
A |
8: 125,623,156 (GRCm39) |
R404* |
probably null |
Het |
Fat2 |
T |
C |
11: 55,187,208 (GRCm39) |
T1213A |
probably benign |
Het |
Fgfr2 |
T |
C |
7: 129,844,136 (GRCm39) |
|
|
Het |
Gtf3c1 |
T |
A |
7: 125,268,266 (GRCm39) |
|
|
Het |
Id2 |
T |
A |
12: 25,145,820 (GRCm39) |
I64F |
probably damaging |
Het |
Idh3a |
G |
T |
9: 54,499,756 (GRCm39) |
A75S |
probably damaging |
Het |
Ift70a2 |
A |
G |
2: 75,808,023 (GRCm39) |
L163P |
probably damaging |
Het |
Itgb8 |
C |
G |
12: 119,131,785 (GRCm39) |
G620A |
probably damaging |
Het |
Itih5 |
T |
A |
2: 10,191,873 (GRCm39) |
|
probably null |
Het |
Lamtor5 |
A |
T |
3: 107,189,336 (GRCm39) |
D124V |
probably damaging |
Het |
Mast4 |
T |
C |
13: 102,930,511 (GRCm39) |
E439G |
probably damaging |
Het |
Meltf |
T |
G |
16: 31,713,680 (GRCm39) |
L641R |
probably damaging |
Het |
Mesd |
G |
T |
7: 83,541,420 (GRCm39) |
|
probably benign |
Het |
Nfia |
C |
T |
4: 97,953,579 (GRCm39) |
P439L |
probably damaging |
Het |
Nptx1 |
A |
T |
11: 119,435,416 (GRCm39) |
|
probably null |
Het |
Or1o3 |
A |
T |
17: 37,573,905 (GRCm39) |
C217S |
probably benign |
Het |
Or2j6 |
T |
A |
7: 139,980,061 (GRCm39) |
R299S |
probably benign |
Het |
Or5t7 |
A |
G |
2: 86,507,633 (GRCm39) |
F15L |
probably benign |
Het |
Or7g29 |
G |
A |
9: 19,286,761 (GRCm39) |
Q139* |
probably null |
Het |
Pdss2 |
T |
A |
10: 43,248,172 (GRCm39) |
H225Q |
probably benign |
Het |
Pik3r5 |
C |
A |
11: 68,383,769 (GRCm39) |
S529R |
probably benign |
Het |
Plxna2 |
T |
C |
1: 194,326,590 (GRCm39) |
S175P |
possibly damaging |
Het |
Pom121l12 |
T |
A |
11: 14,549,551 (GRCm39) |
W86R |
probably benign |
Het |
Ppid |
C |
T |
3: 79,498,740 (GRCm39) |
|
probably benign |
Het |
Pramel7 |
T |
A |
2: 87,322,509 (GRCm39) |
D85V |
probably damaging |
Het |
Prune2 |
C |
T |
19: 17,098,732 (GRCm39) |
T1412I |
probably damaging |
Het |
Ptprd |
T |
C |
4: 76,046,913 (GRCm39) |
Y204C |
probably damaging |
Het |
Rasgrp1 |
G |
A |
2: 117,168,835 (GRCm39) |
R48* |
probably null |
Het |
Rbks |
A |
G |
5: 31,805,127 (GRCm39) |
S246P |
possibly damaging |
Het |
Rnf113a2 |
G |
T |
12: 84,464,451 (GRCm39) |
M114I |
possibly damaging |
Het |
Rsf1 |
GCGGCGGCG |
GCGGCGGCGCCGGCGGCG |
7: 97,229,129 (GRCm39) |
|
probably benign |
Het |
Scara3 |
A |
G |
14: 66,169,093 (GRCm39) |
S175P |
probably damaging |
Het |
Slc4a4 |
T |
A |
5: 89,270,262 (GRCm39) |
L261Q |
probably damaging |
Het |
Sparcl1 |
T |
C |
5: 104,233,023 (GRCm39) |
I593V |
probably benign |
Het |
Suclg1 |
C |
T |
6: 73,253,696 (GRCm39) |
H115Y |
unknown |
Het |
Syde2 |
T |
A |
3: 145,694,510 (GRCm39) |
C253S |
probably benign |
Het |
Tecrl |
A |
T |
5: 83,427,182 (GRCm39) |
I322N |
probably damaging |
Het |
Tesmin |
C |
T |
19: 3,456,965 (GRCm39) |
A428V |
probably damaging |
Het |
Thbd |
T |
A |
2: 148,248,405 (GRCm39) |
T488S |
probably benign |
Het |
Tln2 |
A |
T |
9: 67,170,261 (GRCm39) |
V876E |
probably damaging |
Het |
Ttll13 |
A |
C |
7: 79,903,911 (GRCm39) |
K280Q |
probably damaging |
Het |
Unc13b |
T |
A |
4: 43,172,910 (GRCm39) |
I1246K |
unknown |
Het |
Usp47 |
T |
A |
7: 111,715,116 (GRCm39) |
|
|
Het |
Vmn1r192 |
C |
T |
13: 22,371,944 (GRCm39) |
R92Q |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,767,695 (GRCm39) |
T601A |
probably damaging |
Het |
Vmn2r51 |
A |
G |
7: 9,836,428 (GRCm39) |
F118L |
probably benign |
Het |
Vmn2r74 |
T |
A |
7: 85,605,173 (GRCm39) |
I492L |
probably benign |
Het |
Vps13d |
C |
T |
4: 144,882,620 (GRCm39) |
R991K |
|
Het |
Wdr5b |
T |
C |
16: 35,862,306 (GRCm39) |
S142P |
probably damaging |
Het |
Zfp428 |
G |
T |
7: 24,215,069 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Vmn2r93 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00743:Vmn2r93
|
APN |
17 |
18,546,504 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01326:Vmn2r93
|
APN |
17 |
18,536,906 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL01328:Vmn2r93
|
APN |
17 |
18,545,819 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01360:Vmn2r93
|
APN |
17 |
18,525,510 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL01382:Vmn2r93
|
APN |
17 |
18,533,578 (GRCm39) |
nonsense |
probably null |
|
IGL01463:Vmn2r93
|
APN |
17 |
18,525,150 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02057:Vmn2r93
|
APN |
17 |
18,546,032 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02257:Vmn2r93
|
APN |
17 |
18,545,770 (GRCm39) |
unclassified |
probably benign |
|
IGL02686:Vmn2r93
|
APN |
17 |
18,533,526 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02720:Vmn2r93
|
APN |
17 |
18,525,296 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03328:Vmn2r93
|
APN |
17 |
18,525,220 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4576001:Vmn2r93
|
UTSW |
17 |
18,533,473 (GRCm39) |
missense |
probably benign |
|
R0067:Vmn2r93
|
UTSW |
17 |
18,546,672 (GRCm39) |
missense |
probably benign |
0.00 |
R0067:Vmn2r93
|
UTSW |
17 |
18,546,672 (GRCm39) |
missense |
probably benign |
0.00 |
R0240:Vmn2r93
|
UTSW |
17 |
18,525,061 (GRCm39) |
missense |
probably benign |
0.00 |
R0240:Vmn2r93
|
UTSW |
17 |
18,525,061 (GRCm39) |
missense |
probably benign |
0.00 |
R0488:Vmn2r93
|
UTSW |
17 |
18,546,311 (GRCm39) |
missense |
probably damaging |
1.00 |
R0667:Vmn2r93
|
UTSW |
17 |
18,546,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R0668:Vmn2r93
|
UTSW |
17 |
18,518,667 (GRCm39) |
missense |
probably benign |
0.00 |
R0850:Vmn2r93
|
UTSW |
17 |
18,525,279 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0924:Vmn2r93
|
UTSW |
17 |
18,524,443 (GRCm39) |
missense |
probably benign |
|
R0947:Vmn2r93
|
UTSW |
17 |
18,524,343 (GRCm39) |
missense |
probably benign |
0.06 |
R1124:Vmn2r93
|
UTSW |
17 |
18,518,710 (GRCm39) |
missense |
probably benign |
0.00 |
R1584:Vmn2r93
|
UTSW |
17 |
18,525,413 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1943:Vmn2r93
|
UTSW |
17 |
18,546,063 (GRCm39) |
missense |
probably benign |
0.04 |
R2012:Vmn2r93
|
UTSW |
17 |
18,536,840 (GRCm39) |
missense |
probably benign |
0.01 |
R2018:Vmn2r93
|
UTSW |
17 |
18,546,324 (GRCm39) |
missense |
probably damaging |
1.00 |
R2196:Vmn2r93
|
UTSW |
17 |
18,525,428 (GRCm39) |
missense |
probably damaging |
1.00 |
R2373:Vmn2r93
|
UTSW |
17 |
18,518,665 (GRCm39) |
missense |
probably benign |
|
R2864:Vmn2r93
|
UTSW |
17 |
18,546,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R4276:Vmn2r93
|
UTSW |
17 |
18,525,092 (GRCm39) |
missense |
possibly damaging |
0.47 |
R4446:Vmn2r93
|
UTSW |
17 |
18,524,312 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4537:Vmn2r93
|
UTSW |
17 |
18,525,194 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4674:Vmn2r93
|
UTSW |
17 |
18,525,255 (GRCm39) |
missense |
probably benign |
0.34 |
R4726:Vmn2r93
|
UTSW |
17 |
18,536,960 (GRCm39) |
missense |
probably damaging |
1.00 |
R4936:Vmn2r93
|
UTSW |
17 |
18,524,327 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4984:Vmn2r93
|
UTSW |
17 |
18,533,389 (GRCm39) |
splice site |
probably null |
|
R5111:Vmn2r93
|
UTSW |
17 |
18,546,326 (GRCm39) |
missense |
probably damaging |
0.99 |
R5749:Vmn2r93
|
UTSW |
17 |
18,518,546 (GRCm39) |
missense |
probably benign |
0.06 |
R5918:Vmn2r93
|
UTSW |
17 |
18,546,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R5921:Vmn2r93
|
UTSW |
17 |
18,546,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R6091:Vmn2r93
|
UTSW |
17 |
18,545,958 (GRCm39) |
missense |
probably benign |
0.06 |
R6283:Vmn2r93
|
UTSW |
17 |
18,524,366 (GRCm39) |
missense |
probably benign |
0.02 |
R6680:Vmn2r93
|
UTSW |
17 |
18,536,920 (GRCm39) |
nonsense |
probably null |
|
R6876:Vmn2r93
|
UTSW |
17 |
18,525,450 (GRCm39) |
missense |
probably benign |
0.00 |
R6963:Vmn2r93
|
UTSW |
17 |
18,536,849 (GRCm39) |
missense |
probably damaging |
1.00 |
R6996:Vmn2r93
|
UTSW |
17 |
18,524,903 (GRCm39) |
missense |
probably damaging |
1.00 |
R7027:Vmn2r93
|
UTSW |
17 |
18,533,548 (GRCm39) |
missense |
probably benign |
0.01 |
R7034:Vmn2r93
|
UTSW |
17 |
18,546,672 (GRCm39) |
missense |
probably benign |
0.00 |
R7036:Vmn2r93
|
UTSW |
17 |
18,546,672 (GRCm39) |
missense |
probably benign |
0.00 |
R7258:Vmn2r93
|
UTSW |
17 |
18,525,403 (GRCm39) |
missense |
probably benign |
0.32 |
R7323:Vmn2r93
|
UTSW |
17 |
18,533,497 (GRCm39) |
nonsense |
probably null |
|
R7325:Vmn2r93
|
UTSW |
17 |
18,524,249 (GRCm39) |
missense |
probably benign |
0.01 |
R7390:Vmn2r93
|
UTSW |
17 |
18,525,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R7427:Vmn2r93
|
UTSW |
17 |
18,546,672 (GRCm39) |
missense |
probably benign |
0.00 |
R7428:Vmn2r93
|
UTSW |
17 |
18,546,672 (GRCm39) |
missense |
probably benign |
0.00 |
R7448:Vmn2r93
|
UTSW |
17 |
18,546,248 (GRCm39) |
missense |
probably benign |
0.19 |
R7453:Vmn2r93
|
UTSW |
17 |
18,533,580 (GRCm39) |
missense |
probably benign |
0.10 |
R7562:Vmn2r93
|
UTSW |
17 |
18,518,731 (GRCm39) |
missense |
probably benign |
0.01 |
R7662:Vmn2r93
|
UTSW |
17 |
18,525,631 (GRCm39) |
missense |
probably benign |
0.00 |
R7682:Vmn2r93
|
UTSW |
17 |
18,525,583 (GRCm39) |
missense |
probably benign |
0.03 |
R7704:Vmn2r93
|
UTSW |
17 |
18,536,910 (GRCm39) |
missense |
probably benign |
0.01 |
R7772:Vmn2r93
|
UTSW |
17 |
18,533,482 (GRCm39) |
missense |
probably damaging |
0.99 |
R7957:Vmn2r93
|
UTSW |
17 |
18,545,954 (GRCm39) |
nonsense |
probably null |
|
R8276:Vmn2r93
|
UTSW |
17 |
18,525,649 (GRCm39) |
critical splice donor site |
probably null |
|
R8290:Vmn2r93
|
UTSW |
17 |
18,524,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R8362:Vmn2r93
|
UTSW |
17 |
18,546,353 (GRCm39) |
missense |
probably benign |
0.02 |
R8376:Vmn2r93
|
UTSW |
17 |
18,525,230 (GRCm39) |
missense |
probably damaging |
1.00 |
R8870:Vmn2r93
|
UTSW |
17 |
18,525,320 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8925:Vmn2r93
|
UTSW |
17 |
18,546,500 (GRCm39) |
missense |
probably damaging |
0.99 |
R8927:Vmn2r93
|
UTSW |
17 |
18,546,500 (GRCm39) |
missense |
probably damaging |
0.99 |
R8954:Vmn2r93
|
UTSW |
17 |
18,546,252 (GRCm39) |
missense |
probably damaging |
0.99 |
R9038:Vmn2r93
|
UTSW |
17 |
18,524,471 (GRCm39) |
missense |
probably benign |
|
R9131:Vmn2r93
|
UTSW |
17 |
18,546,143 (GRCm39) |
missense |
probably damaging |
0.99 |
R9205:Vmn2r93
|
UTSW |
17 |
18,524,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R9530:Vmn2r93
|
UTSW |
17 |
18,518,562 (GRCm39) |
missense |
probably damaging |
0.96 |
Z1088:Vmn2r93
|
UTSW |
17 |
18,546,665 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Vmn2r93
|
UTSW |
17 |
18,525,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTGTGTGAAGTGTCCAGAG -3'
(R):5'- ATTCTCCCTGGAAAACTGACC -3'
Sequencing Primer
(F):5'- AGTGTCCAGAGAGTCATTATGC -3'
(R):5'- TTCTCCCTGGAAAACTGACCTTAAAG -3'
|
Posted On |
2019-06-26 |