Incidental Mutation 'R7740:Vmn2r12'
| ID |
596484 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r12
|
| Ensembl Gene |
ENSMUSG00000090688 |
| Gene Name |
vomeronasal 2, receptor 12 |
| Synonyms |
Gm6769 |
| MMRRC Submission |
045796-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R7740 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
109233715-109245730 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 109239615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 316
(V316D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093612
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095922]
|
| AlphaFold |
L7N217 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095922
AA Change: V316D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000093612
Gene: ENSMUSG00000090688
AA Change: V316D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
76 |
466 |
8.8e-30 |
PFAM |
|
Pfam:NCD3G
|
505 |
559 |
1.7e-18 |
PFAM |
|
Pfam:7tm_3
|
591 |
827 |
3.9e-54 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (65/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
G |
A |
5: 109,885,370 (GRCm39) |
Q163* |
probably null |
Het |
| Anxa6 |
T |
A |
11: 54,898,725 (GRCm39) |
T150S |
probably damaging |
Het |
| Bpifb6 |
T |
A |
2: 153,744,929 (GRCm39) |
L45Q |
probably damaging |
Het |
| Brwd1 |
T |
C |
16: 95,828,568 (GRCm39) |
D1121G |
probably damaging |
Het |
| C1ql3 |
A |
G |
2: 13,015,483 (GRCm39) |
I59T |
possibly damaging |
Het |
| Ccdc80 |
A |
G |
16: 44,924,888 (GRCm39) |
H674R |
possibly damaging |
Het |
| Cdhr1 |
T |
G |
14: 36,811,337 (GRCm39) |
E258A |
probably damaging |
Het |
| Ces2g |
T |
A |
8: 105,692,962 (GRCm39) |
F333L |
probably damaging |
Het |
| Chn2 |
C |
T |
6: 54,277,156 (GRCm39) |
T445I |
probably benign |
Het |
| Cpe |
T |
C |
8: 65,050,562 (GRCm39) |
D382G |
possibly damaging |
Het |
| Crb1 |
T |
A |
1: 139,165,428 (GRCm39) |
I960L |
probably benign |
Het |
| Cyp4a14 |
A |
T |
4: 115,350,806 (GRCm39) |
V156D |
probably damaging |
Het |
| Ddx23 |
A |
T |
15: 98,556,315 (GRCm39) |
M1K |
probably null |
Het |
| Dnajc7 |
T |
C |
11: 100,482,387 (GRCm39) |
I202V |
probably benign |
Het |
| Dsn1 |
T |
A |
2: 156,839,636 (GRCm39) |
D255V |
possibly damaging |
Het |
| Dvl3 |
A |
T |
16: 20,346,000 (GRCm39) |
|
probably null |
Het |
| Epm2a |
A |
G |
10: 11,266,684 (GRCm39) |
D143G |
possibly damaging |
Het |
| Erc1 |
T |
A |
6: 119,738,149 (GRCm39) |
M565L |
probably benign |
Het |
| Fancm |
T |
C |
12: 65,173,321 (GRCm39) |
C1878R |
possibly damaging |
Het |
| Gapvd1 |
T |
C |
2: 34,590,834 (GRCm39) |
E946G |
probably damaging |
Het |
| Gm9195 |
C |
T |
14: 72,678,113 (GRCm39) |
R2352K |
possibly damaging |
Het |
| Greb1 |
C |
A |
12: 16,790,122 (GRCm39) |
|
probably benign |
Het |
| Haus5 |
G |
A |
7: 30,362,678 (GRCm39) |
A44V |
possibly damaging |
Het |
| Herc4 |
A |
G |
10: 63,105,457 (GRCm39) |
Y146C |
probably benign |
Het |
| Herc6 |
T |
G |
6: 57,636,802 (GRCm39) |
|
probably null |
Het |
| Hivep2 |
G |
T |
10: 14,003,414 (GRCm39) |
G4V |
probably damaging |
Het |
| Hsdl2 |
G |
T |
4: 59,612,724 (GRCm39) |
G425V |
probably damaging |
Het |
| Igkv1-110 |
C |
T |
6: 68,247,974 (GRCm39) |
L28F |
probably benign |
Het |
| Il21r |
T |
A |
7: 125,231,727 (GRCm39) |
L385Q |
possibly damaging |
Het |
| Krtap5-1 |
ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG |
ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG |
7: 141,850,333 (GRCm39) |
|
probably benign |
Het |
| Krtap5-2 |
C |
T |
7: 141,728,699 (GRCm39) |
C149Y |
unknown |
Het |
| Lingo2 |
T |
A |
4: 35,709,248 (GRCm39) |
N244I |
probably damaging |
Het |
| Lrrk2 |
C |
T |
15: 91,651,527 (GRCm39) |
R1728C |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,578,096 (GRCm39) |
|
probably benign |
Het |
| Malrd1 |
G |
A |
2: 15,619,026 (GRCm39) |
V297I |
not run |
Het |
| Mars1 |
T |
A |
10: 127,136,444 (GRCm39) |
E460D |
probably benign |
Het |
| Nr1i3 |
A |
G |
1: 171,044,396 (GRCm39) |
I174V |
probably benign |
Het |
| Odf2 |
C |
T |
2: 29,820,636 (GRCm39) |
T814M |
probably damaging |
Het |
| Or10q1 |
T |
C |
19: 13,727,328 (GRCm39) |
V286A |
probably benign |
Het |
| Or4k1 |
T |
C |
14: 50,377,803 (GRCm39) |
M98V |
probably benign |
Het |
| Or4k52 |
A |
T |
2: 111,610,793 (GRCm39) |
I43F |
possibly damaging |
Het |
| Pcdhga8 |
T |
C |
18: 37,860,470 (GRCm39) |
S509P |
probably benign |
Het |
| Pdzd2 |
A |
G |
15: 12,374,102 (GRCm39) |
L2011S |
probably benign |
Het |
| Pole |
T |
A |
5: 110,478,907 (GRCm39) |
S1930T |
probably benign |
Het |
| Poteg |
T |
A |
8: 27,952,052 (GRCm39) |
|
probably null |
Het |
| Ptprk |
T |
A |
10: 28,372,920 (GRCm39) |
C724S |
probably damaging |
Het |
| Rabgap1l |
T |
C |
1: 160,509,673 (GRCm39) |
E468G |
probably benign |
Het |
| Rbm12b1 |
G |
T |
4: 12,145,954 (GRCm39) |
R642L |
probably benign |
Het |
| Relch |
T |
C |
1: 105,658,986 (GRCm39) |
V914A |
probably damaging |
Het |
| S1pr4 |
A |
T |
10: 81,334,855 (GRCm39) |
Y206* |
probably null |
Het |
| Sim2 |
A |
G |
16: 93,915,819 (GRCm39) |
I261V |
probably benign |
Het |
| Slc22a12 |
C |
A |
19: 6,587,199 (GRCm39) |
A448S |
probably benign |
Het |
| Slc4a2 |
A |
G |
5: 24,636,666 (GRCm39) |
|
probably null |
Het |
| Slc6a7 |
T |
C |
18: 61,133,495 (GRCm39) |
E567G |
possibly damaging |
Het |
| St6gal1 |
T |
C |
16: 23,139,785 (GRCm39) |
|
probably benign |
Het |
| Syne3 |
T |
C |
12: 104,920,546 (GRCm39) |
K550R |
probably benign |
Het |
| Tekt1 |
T |
A |
11: 72,250,544 (GRCm39) |
T51S |
probably benign |
Het |
| Tm9sf4 |
T |
A |
2: 153,050,663 (GRCm39) |
V640E |
probably damaging |
Het |
| Tnfsf8 |
G |
T |
4: 63,752,683 (GRCm39) |
H127Q |
possibly damaging |
Het |
| Tomm20 |
A |
G |
8: 127,666,633 (GRCm39) |
L80S |
probably damaging |
Het |
| Top2a |
T |
C |
11: 98,884,640 (GRCm39) |
D1526G |
probably benign |
Het |
| Trmt1l |
T |
C |
1: 151,316,639 (GRCm39) |
V200A |
possibly damaging |
Het |
| Trpa1 |
A |
G |
1: 14,982,625 (GRCm39) |
V77A |
possibly damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,368,324 (GRCm39) |
L223M |
probably benign |
Het |
| Zfp2 |
T |
C |
11: 50,791,605 (GRCm39) |
H146R |
probably damaging |
Het |
| Zfp52 |
T |
C |
17: 21,781,252 (GRCm39) |
S367P |
probably damaging |
Het |
|
| Other mutations in Vmn2r12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00948:Vmn2r12
|
APN |
5 |
109,245,541 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL01096:Vmn2r12
|
APN |
5 |
109,234,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01538:Vmn2r12
|
APN |
5 |
109,239,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01548:Vmn2r12
|
APN |
5 |
109,240,893 (GRCm39) |
nonsense |
probably null |
|
|
IGL01762:Vmn2r12
|
APN |
5 |
109,234,430 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01860:Vmn2r12
|
APN |
5 |
109,240,025 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02269:Vmn2r12
|
APN |
5 |
109,234,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02530:Vmn2r12
|
APN |
5 |
109,233,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02887:Vmn2r12
|
APN |
5 |
109,238,351 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03265:Vmn2r12
|
APN |
5 |
109,239,936 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0396:Vmn2r12
|
UTSW |
5 |
109,240,765 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0497:Vmn2r12
|
UTSW |
5 |
109,239,755 (GRCm39) |
nonsense |
probably null |
|
|
R0529:Vmn2r12
|
UTSW |
5 |
109,240,714 (GRCm39) |
missense |
probably benign |
|
|
R0715:Vmn2r12
|
UTSW |
5 |
109,238,373 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0742:Vmn2r12
|
UTSW |
5 |
109,234,281 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0894:Vmn2r12
|
UTSW |
5 |
109,235,716 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1173:Vmn2r12
|
UTSW |
5 |
109,240,720 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1174:Vmn2r12
|
UTSW |
5 |
109,240,720 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1259:Vmn2r12
|
UTSW |
5 |
109,239,763 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1349:Vmn2r12
|
UTSW |
5 |
109,234,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1388:Vmn2r12
|
UTSW |
5 |
109,240,840 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1549:Vmn2r12
|
UTSW |
5 |
109,240,696 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1766:Vmn2r12
|
UTSW |
5 |
109,239,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1781:Vmn2r12
|
UTSW |
5 |
109,239,594 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1885:Vmn2r12
|
UTSW |
5 |
109,239,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2159:Vmn2r12
|
UTSW |
5 |
109,239,340 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2420:Vmn2r12
|
UTSW |
5 |
109,234,398 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2421:Vmn2r12
|
UTSW |
5 |
109,234,398 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2422:Vmn2r12
|
UTSW |
5 |
109,234,398 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2937:Vmn2r12
|
UTSW |
5 |
109,239,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2938:Vmn2r12
|
UTSW |
5 |
109,239,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3898:Vmn2r12
|
UTSW |
5 |
109,238,370 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4061:Vmn2r12
|
UTSW |
5 |
109,240,058 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4063:Vmn2r12
|
UTSW |
5 |
109,240,058 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4090:Vmn2r12
|
UTSW |
5 |
109,239,412 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4297:Vmn2r12
|
UTSW |
5 |
109,239,830 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4298:Vmn2r12
|
UTSW |
5 |
109,239,830 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4299:Vmn2r12
|
UTSW |
5 |
109,239,830 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4304:Vmn2r12
|
UTSW |
5 |
109,233,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4306:Vmn2r12
|
UTSW |
5 |
109,233,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4307:Vmn2r12
|
UTSW |
5 |
109,233,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4308:Vmn2r12
|
UTSW |
5 |
109,233,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4594:Vmn2r12
|
UTSW |
5 |
109,234,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4783:Vmn2r12
|
UTSW |
5 |
109,234,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4900:Vmn2r12
|
UTSW |
5 |
109,240,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4929:Vmn2r12
|
UTSW |
5 |
109,239,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4974:Vmn2r12
|
UTSW |
5 |
109,239,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5389:Vmn2r12
|
UTSW |
5 |
109,238,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5431:Vmn2r12
|
UTSW |
5 |
109,239,684 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5527:Vmn2r12
|
UTSW |
5 |
109,234,483 (GRCm39) |
nonsense |
probably null |
|
|
R5639:Vmn2r12
|
UTSW |
5 |
109,240,666 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5753:Vmn2r12
|
UTSW |
5 |
109,239,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5797:Vmn2r12
|
UTSW |
5 |
109,233,736 (GRCm39) |
nonsense |
probably null |
|
|
R6142:Vmn2r12
|
UTSW |
5 |
109,240,763 (GRCm39) |
missense |
probably benign |
|
|
R6162:Vmn2r12
|
UTSW |
5 |
109,234,430 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6176:Vmn2r12
|
UTSW |
5 |
109,233,866 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6853:Vmn2r12
|
UTSW |
5 |
109,240,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7238:Vmn2r12
|
UTSW |
5 |
109,245,655 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7341:Vmn2r12
|
UTSW |
5 |
109,239,811 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7341:Vmn2r12
|
UTSW |
5 |
109,234,113 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7383:Vmn2r12
|
UTSW |
5 |
109,240,684 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7749:Vmn2r12
|
UTSW |
5 |
109,233,920 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7861:Vmn2r12
|
UTSW |
5 |
109,235,829 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7908:Vmn2r12
|
UTSW |
5 |
109,234,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8128:Vmn2r12
|
UTSW |
5 |
109,239,747 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8175:Vmn2r12
|
UTSW |
5 |
109,238,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8234:Vmn2r12
|
UTSW |
5 |
109,234,074 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8771:Vmn2r12
|
UTSW |
5 |
109,239,952 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8947:Vmn2r12
|
UTSW |
5 |
109,234,522 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8991:Vmn2r12
|
UTSW |
5 |
109,234,033 (GRCm39) |
nonsense |
probably null |
|
|
R9116:Vmn2r12
|
UTSW |
5 |
109,233,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9122:Vmn2r12
|
UTSW |
5 |
109,240,910 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9153:Vmn2r12
|
UTSW |
5 |
109,234,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9371:Vmn2r12
|
UTSW |
5 |
109,234,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9375:Vmn2r12
|
UTSW |
5 |
109,233,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9524:Vmn2r12
|
UTSW |
5 |
109,239,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9587:Vmn2r12
|
UTSW |
5 |
109,239,322 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Vmn2r12
|
UTSW |
5 |
109,240,646 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Vmn2r12
|
UTSW |
5 |
109,239,303 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCTGTCCATTCCAATGTG -3'
(R):5'- TGCAGTTATATATGACAAGGGCTGAG -3'
Sequencing Primer
(F):5'- CCATTCCAATGTGTTGTTGAATG -3'
(R):5'- TATGACAAGGGCTGAGATATATGAC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation