Incidental Mutation 'R2196:Vmn2r93'
ID |
238384 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r93
|
Ensembl Gene |
ENSMUSG00000079698 |
Gene Name |
vomeronasal 2, receptor 93 |
Synonyms |
EG627132 |
MMRRC Submission |
040198-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.084)
|
Stock # |
R2196 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
18518543-18546703 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 18525428 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 362
(S362L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156230
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079206]
[ENSMUST00000231879]
[ENSMUST00000231938]
|
AlphaFold |
L7N1Z9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000079206
AA Change: S362L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000078200 Gene: ENSMUSG00000079698 AA Change: S362L
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 damaging
Transcript: ENSMUST00000231879
AA Change: S362L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231938
AA Change: S362L
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn2 |
T |
A |
13: 12,290,065 (GRCm39) |
T734S |
probably damaging |
Het |
Acvr2a |
A |
T |
2: 48,760,324 (GRCm39) |
T27S |
possibly damaging |
Het |
Ankhd1 |
T |
A |
18: 36,781,432 (GRCm39) |
N2161K |
probably damaging |
Het |
Apba3 |
A |
G |
10: 81,107,542 (GRCm39) |
Y350C |
probably damaging |
Het |
Bnipl |
T |
A |
3: 95,157,181 (GRCm39) |
R47S |
possibly damaging |
Het |
Cacna1b |
C |
T |
2: 24,651,800 (GRCm39) |
M126I |
probably damaging |
Het |
Cep112 |
G |
A |
11: 108,461,187 (GRCm39) |
E329K |
probably damaging |
Het |
Cep55 |
T |
A |
19: 38,057,558 (GRCm39) |
Y187N |
probably damaging |
Het |
Cngb3 |
T |
C |
4: 19,415,690 (GRCm39) |
I400T |
possibly damaging |
Het |
Csad |
T |
C |
15: 102,096,028 (GRCm39) |
N142D |
probably benign |
Het |
Dars1 |
A |
T |
1: 128,306,595 (GRCm39) |
I195N |
probably damaging |
Het |
Dmxl1 |
T |
A |
18: 50,050,698 (GRCm39) |
L2454Q |
probably benign |
Het |
Emc1 |
A |
T |
4: 139,093,841 (GRCm39) |
E650D |
probably benign |
Het |
Enam |
A |
G |
5: 88,650,603 (GRCm39) |
D704G |
probably damaging |
Het |
Fat1 |
T |
A |
8: 45,477,683 (GRCm39) |
I2220N |
probably damaging |
Het |
Fat4 |
T |
C |
3: 39,035,566 (GRCm39) |
S3073P |
probably benign |
Het |
Fbxl4 |
T |
C |
4: 22,403,624 (GRCm39) |
M399T |
probably benign |
Het |
Gcsh |
G |
A |
8: 117,715,909 (GRCm39) |
T58M |
possibly damaging |
Het |
Ghrhr |
T |
C |
6: 55,356,726 (GRCm39) |
Y108H |
probably damaging |
Het |
Gm5431 |
A |
T |
11: 48,780,058 (GRCm39) |
I566N |
probably damaging |
Het |
Gnb5 |
A |
T |
9: 75,234,511 (GRCm39) |
D70V |
probably damaging |
Het |
Grin2c |
G |
T |
11: 115,141,492 (GRCm39) |
S875R |
probably benign |
Het |
Itch |
A |
C |
2: 155,044,141 (GRCm39) |
Q482P |
probably benign |
Het |
Krt87 |
T |
C |
15: 101,336,314 (GRCm39) |
E113G |
probably damaging |
Het |
Map4 |
A |
G |
9: 109,900,116 (GRCm39) |
E934G |
probably damaging |
Het |
Mkx |
A |
G |
18: 7,000,675 (GRCm39) |
L89P |
probably damaging |
Het |
Myo15a |
T |
A |
11: 60,400,847 (GRCm39) |
Y2982* |
probably null |
Het |
Nedd4 |
C |
T |
9: 72,632,356 (GRCm39) |
L397F |
possibly damaging |
Het |
Nom1 |
A |
G |
5: 29,641,019 (GRCm39) |
D353G |
probably benign |
Het |
Notch1 |
A |
T |
2: 26,353,816 (GRCm39) |
L1937* |
probably null |
Het |
Nrxn2 |
A |
T |
19: 6,540,139 (GRCm39) |
D820V |
probably damaging |
Het |
Nup210 |
A |
T |
6: 91,032,226 (GRCm39) |
N47K |
probably benign |
Het |
Or1j12 |
T |
A |
2: 36,342,600 (GRCm39) |
M1K |
probably null |
Het |
Or4p21 |
G |
A |
2: 88,277,054 (GRCm39) |
T76I |
probably benign |
Het |
Or6d14 |
A |
T |
6: 116,533,578 (GRCm39) |
Q64L |
probably damaging |
Het |
Pcolce2 |
A |
T |
9: 95,576,742 (GRCm39) |
I338F |
probably damaging |
Het |
Pkd1 |
T |
C |
17: 24,799,046 (GRCm39) |
M2755T |
possibly damaging |
Het |
Plekhg4 |
TAGTCGATGCCCGAGTC |
TAGTC |
8: 106,103,084 (GRCm39) |
|
probably benign |
Het |
Rab3a |
T |
C |
8: 71,209,872 (GRCm39) |
S51P |
probably benign |
Het |
Scn10a |
G |
A |
9: 119,438,070 (GRCm39) |
A1933V |
probably benign |
Het |
Serpina1c |
T |
A |
12: 103,862,370 (GRCm39) |
Y315F |
probably damaging |
Het |
Slc29a4 |
A |
C |
5: 142,698,650 (GRCm39) |
I104L |
possibly damaging |
Het |
Spag16 |
G |
A |
1: 69,897,681 (GRCm39) |
V144I |
possibly damaging |
Het |
Spata22 |
A |
G |
11: 73,236,660 (GRCm39) |
K322R |
probably benign |
Het |
Sult2a8 |
T |
A |
7: 14,161,778 (GRCm39) |
I23L |
probably benign |
Het |
Thoc1 |
T |
A |
18: 9,986,300 (GRCm39) |
V344D |
probably damaging |
Het |
Tnn |
G |
C |
1: 159,924,798 (GRCm39) |
Y1185* |
probably null |
Het |
Trpc4 |
A |
G |
3: 54,209,614 (GRCm39) |
I660V |
probably benign |
Het |
Urb1 |
A |
G |
16: 90,571,144 (GRCm39) |
Y1222H |
probably benign |
Het |
Usp4 |
A |
G |
9: 108,250,885 (GRCm39) |
E531G |
probably benign |
Het |
Zfhx3 |
G |
T |
8: 109,526,885 (GRCm39) |
E927D |
probably damaging |
Het |
Zfp644 |
A |
T |
5: 106,786,469 (GRCm39) |
M1K |
probably null |
Het |
Zp2 |
T |
C |
7: 119,737,529 (GRCm39) |
H252R |
probably benign |
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 |
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 |
R7246:Vmn2r93
|
UTSW |
17 |
18,546,012 (GRCm39) |
missense |
possibly damaging |
0.89 |
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'- GGTCATGAACACTGAACACCATG -3'
(R):5'- TGTACCTGCCATGGAAAGAAC -3'
Sequencing Primer
(F):5'- AAGCACCATTACAGGGAG -3'
(R):5'- CAAATGGTTGTACTTGAAGTTGC -3'
|
Posted On |
2014-10-02 |