Incidental Mutation 'R7749:Vmn2r12'
| ID |
597086 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r12
|
| Ensembl Gene |
ENSMUSG00000090688 |
| Gene Name |
vomeronasal 2, receptor 12 |
| Synonyms |
Gm6769 |
| MMRRC Submission |
045805-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R7749 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
109233715-109245730 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 109233920 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 764
(N764S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093612
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095922]
|
| AlphaFold |
L7N217 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095922
AA Change: N764S
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000093612
Gene: ENSMUSG00000090688
AA Change: N764S
| 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 |
99% (66/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr1a |
A |
T |
19: 46,368,186 (GRCm39) |
S254T |
probably benign |
Het |
| Adam12 |
G |
A |
7: 133,826,542 (GRCm39) |
A22V |
unknown |
Het |
| Adarb2 |
A |
G |
13: 8,619,775 (GRCm39) |
D87G |
possibly damaging |
Het |
| Aldh6a1 |
A |
T |
12: 84,488,855 (GRCm39) |
I59N |
probably benign |
Het |
| Ankrd50 |
C |
T |
3: 38,536,870 (GRCm39) |
C161Y |
probably damaging |
Het |
| Ankrd7 |
A |
G |
6: 18,879,515 (GRCm39) |
|
probably null |
Het |
| Anks1 |
T |
A |
17: 28,257,115 (GRCm39) |
I707N |
probably damaging |
Het |
| Atoh1 |
A |
T |
6: 64,706,904 (GRCm39) |
M200L |
possibly damaging |
Het |
| Bmp1 |
C |
T |
14: 70,730,284 (GRCm39) |
R416H |
probably damaging |
Het |
| Caprin1 |
A |
G |
2: 103,602,099 (GRCm39) |
S548P |
probably benign |
Het |
| Ccdc167 |
T |
A |
17: 29,924,247 (GRCm39) |
Y63F |
possibly damaging |
Het |
| Cfap99 |
T |
A |
5: 34,465,284 (GRCm39) |
D174E |
probably benign |
Het |
| Chil3 |
T |
G |
3: 106,056,161 (GRCm39) |
N331T |
probably benign |
Het |
| Chmp5 |
T |
A |
4: 40,949,488 (GRCm39) |
I35N |
probably damaging |
Het |
| Cpt1c |
A |
T |
7: 44,611,689 (GRCm39) |
S537T |
probably benign |
Het |
| Dctn1 |
A |
T |
6: 83,163,123 (GRCm39) |
|
probably benign |
Het |
| Dhx57 |
T |
A |
17: 80,546,287 (GRCm39) |
M1366L |
probably benign |
Het |
| Dnah9 |
T |
A |
11: 65,802,656 (GRCm39) |
Y3478F |
probably damaging |
Het |
| Efna3 |
A |
G |
3: 89,223,947 (GRCm39) |
Y81H |
probably damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,192,608 (GRCm39) |
V812A |
probably damaging |
Het |
| Erg |
A |
T |
16: 95,178,216 (GRCm39) |
I237N |
probably benign |
Het |
| Fem1c |
G |
T |
18: 46,657,185 (GRCm39) |
N176K |
probably damaging |
Het |
| Fgd4 |
T |
C |
16: 16,293,018 (GRCm39) |
Y233C |
probably benign |
Het |
| Foxd2 |
G |
A |
4: 114,765,009 (GRCm39) |
A337V |
unknown |
Het |
| Gsdma2 |
T |
C |
11: 98,548,547 (GRCm39) |
L433P |
unknown |
Het |
| Hmcn2 |
C |
A |
2: 31,343,045 (GRCm39) |
|
probably null |
Het |
| Hnrnpul2 |
T |
C |
19: 8,797,788 (GRCm39) |
V48A |
probably benign |
Het |
| Hsf1 |
T |
A |
15: 76,383,387 (GRCm39) |
S396T |
probably benign |
Het |
| Htr5b |
G |
T |
1: 121,455,487 (GRCm39) |
N144K |
probably damaging |
Het |
| Igkv9-120 |
T |
C |
6: 68,027,172 (GRCm39) |
S29P |
probably damaging |
Het |
| Igsf10 |
T |
A |
3: 59,236,549 (GRCm39) |
N1211Y |
possibly damaging |
Het |
| Kcnh1 |
A |
C |
1: 191,959,447 (GRCm39) |
I334L |
probably benign |
Het |
| Laptm4b |
T |
C |
15: 34,276,346 (GRCm39) |
I158T |
probably benign |
Het |
| Mgat4f |
A |
T |
1: 134,318,250 (GRCm39) |
M341L |
probably benign |
Het |
| Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
| Nav3 |
T |
C |
10: 109,539,213 (GRCm39) |
T2063A |
probably damaging |
Het |
| Nceh1 |
T |
A |
3: 27,261,531 (GRCm39) |
D47E |
probably benign |
Het |
| Nckap5 |
A |
G |
1: 125,952,383 (GRCm39) |
S1390P |
probably damaging |
Het |
| Npepps |
T |
G |
11: 97,158,454 (GRCm39) |
I104L |
probably benign |
Het |
| Numb |
A |
G |
12: 83,848,051 (GRCm39) |
S229P |
not run |
Het |
| Opn1sw |
T |
A |
6: 29,380,168 (GRCm39) |
I83F |
probably benign |
Het |
| Or13p4 |
T |
C |
4: 118,547,425 (GRCm39) |
S75G |
probably damaging |
Het |
| Or5b95 |
A |
T |
19: 12,657,576 (GRCm39) |
I35F |
probably benign |
Het |
| Or5l13 |
G |
A |
2: 87,779,822 (GRCm39) |
H252Y |
probably damaging |
Het |
| Pigg |
T |
G |
5: 108,484,162 (GRCm39) |
C603G |
probably benign |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
C |
A |
15: 44,391,133 (GRCm39) |
H1504N |
probably benign |
Het |
| Plcd4 |
A |
G |
1: 74,604,292 (GRCm39) |
N757D |
possibly damaging |
Het |
| Ppia |
A |
G |
11: 6,369,569 (GRCm39) |
T152A |
probably benign |
Het |
| Psmd8 |
G |
A |
7: 28,878,346 (GRCm39) |
|
probably null |
Het |
| Pxn |
T |
A |
5: 115,686,575 (GRCm39) |
Y356N |
probably benign |
Het |
| Rhoa |
G |
C |
9: 108,213,914 (GRCm39) |
C159S |
probably damaging |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Rita1 |
C |
T |
5: 120,749,506 (GRCm39) |
C69Y |
probably benign |
Het |
| Satb1 |
A |
G |
17: 52,074,961 (GRCm39) |
S512P |
possibly damaging |
Het |
| Sectm1b |
A |
G |
11: 120,945,768 (GRCm39) |
I191T |
possibly damaging |
Het |
| Slc22a6 |
A |
G |
19: 8,599,260 (GRCm39) |
K297R |
possibly damaging |
Het |
| Snrnp48 |
T |
C |
13: 38,405,263 (GRCm39) |
Y287H |
probably benign |
Het |
| Sntg2 |
A |
T |
12: 30,276,910 (GRCm39) |
C381S |
probably benign |
Het |
| Syngap1 |
T |
A |
17: 27,178,938 (GRCm39) |
M649K |
probably damaging |
Het |
| Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
| Thap2 |
T |
C |
10: 115,212,289 (GRCm39) |
I79V |
probably damaging |
Het |
| Thap7 |
T |
C |
16: 17,346,467 (GRCm39) |
N172S |
probably benign |
Het |
| Ticrr |
A |
G |
7: 79,328,844 (GRCm39) |
Y661C |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,606,659 (GRCm39) |
N18084D |
probably damaging |
Het |
| Usp48 |
A |
T |
4: 137,377,728 (GRCm39) |
K1020M |
probably damaging |
Het |
| Vmn2r91 |
A |
G |
17: 18,356,540 (GRCm39) |
I736V |
possibly damaging |
Het |
| Wfdc6b |
T |
A |
2: 164,459,339 (GRCm39) |
C134S |
probably damaging |
Het |
| Zcchc2 |
A |
T |
1: 105,946,003 (GRCm39) |
D481V |
probably damaging |
Het |
| Zfp949 |
G |
A |
9: 88,451,923 (GRCm39) |
G498R |
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 |
|
R7740:Vmn2r12
|
UTSW |
5 |
109,239,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TTGGGAGAAAGATGCACCC -3'
(R):5'- GGCACCTAACTTGGTCATTCCC -3'
Sequencing Primer
(F):5'- TGCACCCTAGCAAGCCTG -3'
(R):5'- AATCCAACTTGTCCTCTGTGG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation