Incidental Mutation 'R1514:Vmn2r112'
| ID |
168648 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r112
|
| Ensembl Gene |
ENSMUSG00000094921 |
| Gene Name |
vomeronasal 2, receptor 112 |
| Synonyms |
EG628185 |
| MMRRC Submission |
039561-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R1514 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
22601148-22619133 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 22602844 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 168
(T168S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094994
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097381]
|
| AlphaFold |
L7N221 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097381
AA Change: T168S
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000094994
Gene: ENSMUSG00000094921
AA Change: T168S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
73 |
471 |
2.8e-32 |
PFAM |
|
Pfam:NCD3G
|
512 |
565 |
5.8e-21 |
PFAM |
|
Pfam:7tm_3
|
598 |
833 |
6.5e-54 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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 |
|---|
| 1700017N19Rik |
T |
A |
10: 100,612,867 (GRCm38) |
L147Q |
probably damaging |
Het |
| Abcb1a |
A |
G |
5: 8,674,791 (GRCm38) |
T75A |
possibly damaging |
Het |
| Acvr1 |
A |
T |
2: 58,447,585 (GRCm38) |
L495* |
probably null |
Het |
| Add1 |
T |
C |
5: 34,610,617 (GRCm38) |
I240T |
probably benign |
Het |
| Adgra2 |
C |
A |
8: 27,121,278 (GRCm38) |
S870* |
probably null |
Het |
| Amer3 |
G |
A |
1: 34,579,327 (GRCm38) |
|
probably benign |
Het |
| Baz2b |
A |
T |
2: 59,962,326 (GRCm38) |
V486D |
probably benign |
Het |
| Bcorl1 |
T |
A |
X: 48,405,944 (GRCm38) |
D1697E |
probably damaging |
Het |
| Cenpf |
T |
C |
1: 189,679,141 (GRCm38) |
D282G |
possibly damaging |
Het |
| Cep112 |
A |
G |
11: 108,472,054 (GRCm38) |
D200G |
probably damaging |
Het |
| Clec4a4 |
C |
T |
6: 122,990,442 (GRCm38) |
P26S |
probably benign |
Het |
| Crygf |
A |
C |
1: 65,928,038 (GRCm38) |
R102S |
possibly damaging |
Het |
| Cyp2b19 |
A |
T |
7: 26,767,160 (GRCm38) |
E404D |
probably benign |
Het |
| Dcdc2a |
A |
G |
13: 25,061,254 (GRCm38) |
I105V |
probably benign |
Het |
| Dus4l |
T |
C |
12: 31,640,939 (GRCm38) |
M238V |
probably damaging |
Het |
| Eprs |
G |
A |
1: 185,381,834 (GRCm38) |
M326I |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,223,835 (GRCm38) |
T1010A |
probably benign |
Het |
| Fam124b |
T |
C |
1: 80,200,431 (GRCm38) |
T284A |
possibly damaging |
Het |
| Fam84a |
C |
T |
12: 14,149,863 (GRCm38) |
V288M |
probably damaging |
Het |
| Glb1l2 |
A |
G |
9: 26,769,124 (GRCm38) |
|
probably benign |
Het |
| Gm15922 |
G |
A |
7: 3,739,640 (GRCm38) |
T23I |
possibly damaging |
Het |
| Gm16223 |
T |
A |
5: 42,067,955 (GRCm38) |
|
probably null |
Het |
| Gm438 |
T |
C |
4: 144,777,759 (GRCm38) |
N274S |
probably damaging |
Het |
| Gm4952 |
T |
A |
19: 12,626,914 (GRCm38) |
M230K |
probably damaging |
Het |
| Gm5828 |
C |
A |
1: 16,769,359 (GRCm38) |
|
noncoding transcript |
Het |
| Gm597 |
T |
A |
1: 28,778,748 (GRCm38) |
T68S |
possibly damaging |
Het |
| Hsh2d |
G |
A |
8: 72,200,460 (GRCm38) |
D229N |
probably benign |
Het |
| Ifna16 |
T |
A |
4: 88,676,742 (GRCm38) |
T39S |
possibly damaging |
Het |
| Kcnc3 |
G |
A |
7: 44,595,603 (GRCm38) |
G439D |
probably damaging |
Het |
| Kif1c |
T |
C |
11: 70,705,729 (GRCm38) |
S257P |
probably damaging |
Het |
| Kng1 |
A |
G |
16: 23,079,760 (GRCm38) |
K456E |
probably damaging |
Het |
| Lpxn |
T |
C |
19: 12,824,050 (GRCm38) |
L142P |
probably damaging |
Het |
| Med23 |
A |
G |
10: 24,892,667 (GRCm38) |
|
probably benign |
Het |
| Mgea5 |
A |
G |
19: 45,776,931 (GRCm38) |
S146P |
probably damaging |
Het |
| Mks1 |
A |
T |
11: 87,861,111 (GRCm38) |
D369V |
probably benign |
Het |
| Myo1d |
A |
T |
11: 80,685,908 (GRCm38) |
Y114N |
probably damaging |
Het |
| Npas2 |
A |
G |
1: 39,311,854 (GRCm38) |
D126G |
possibly damaging |
Het |
| Olfr1314 |
T |
C |
2: 112,092,036 (GRCm38) |
I222V |
probably benign |
Het |
| Olfr1420 |
A |
G |
19: 11,896,614 (GRCm38) |
T198A |
probably benign |
Het |
| Olfr148 |
T |
C |
9: 39,613,696 (GRCm38) |
I43T |
probably damaging |
Het |
| Onecut2 |
T |
C |
18: 64,341,580 (GRCm38) |
F401L |
possibly damaging |
Het |
| Parp11 |
T |
A |
6: 127,474,293 (GRCm38) |
F102Y |
possibly damaging |
Het |
| Pcnx |
C |
T |
12: 81,918,798 (GRCm38) |
H580Y |
probably damaging |
Het |
| Pde3b |
A |
G |
7: 114,530,766 (GRCm38) |
H852R |
probably damaging |
Het |
| Pou2af1 |
A |
G |
9: 51,233,208 (GRCm38) |
T141A |
probably benign |
Het |
| Rgs22 |
A |
C |
15: 36,013,100 (GRCm38) |
V1190G |
probably benign |
Het |
| Rnf112 |
T |
C |
11: 61,450,410 (GRCm38) |
S450G |
probably benign |
Het |
| Rpgrip1l |
A |
T |
8: 91,260,750 (GRCm38) |
I893N |
probably damaging |
Het |
| Rps3a1 |
A |
G |
3: 86,138,527 (GRCm38) |
V210A |
probably benign |
Het |
| Runx2 |
C |
T |
17: 44,735,337 (GRCm38) |
A114T |
possibly damaging |
Het |
| Sardh |
A |
G |
2: 27,197,690 (GRCm38) |
V723A |
possibly damaging |
Het |
| Sdk2 |
C |
T |
11: 113,838,646 (GRCm38) |
|
silent |
Het |
| Secisbp2 |
A |
G |
13: 51,682,095 (GRCm38) |
S742G |
possibly damaging |
Het |
| Selenow |
G |
T |
7: 15,920,298 (GRCm38) |
|
probably benign |
Het |
| Slc30a4 |
A |
G |
2: 122,689,414 (GRCm38) |
V226A |
probably damaging |
Het |
| Sntb2 |
A |
G |
8: 106,991,532 (GRCm38) |
N291D |
probably damaging |
Het |
| Sorbs2 |
A |
G |
8: 45,769,829 (GRCm38) |
T190A |
probably damaging |
Het |
| Specc1 |
T |
A |
11: 62,156,532 (GRCm38) |
L909H |
probably damaging |
Het |
| Sprr1b |
T |
C |
3: 92,437,107 (GRCm38) |
*154W |
probably null |
Het |
| Taar4 |
T |
A |
10: 23,960,612 (GRCm38) |
M40K |
possibly damaging |
Het |
| Ubr2 |
A |
T |
17: 47,000,823 (GRCm38) |
L34H |
probably damaging |
Het |
| Ubxn6 |
T |
C |
17: 56,069,003 (GRCm38) |
K386R |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,514,323 (GRCm38) |
R2303* |
probably null |
Het |
| Zbtb14 |
C |
A |
17: 69,388,502 (GRCm38) |
F398L |
probably damaging |
Het |
| Zfp13 |
G |
T |
17: 23,576,412 (GRCm38) |
T395K |
probably damaging |
Het |
| Zfp281 |
A |
G |
1: 136,626,697 (GRCm38) |
N471S |
probably benign |
Het |
|
| Other mutations in Vmn2r112 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00341:Vmn2r112
|
APN |
17 |
22,618,936 (GRCm38) |
missense |
probably benign |
0.13 |
|
IGL01021:Vmn2r112
|
APN |
17 |
22,618,904 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01122:Vmn2r112
|
APN |
17 |
22,603,007 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01360:Vmn2r112
|
APN |
17 |
22,618,622 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL01536:Vmn2r112
|
APN |
17 |
22,605,155 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02148:Vmn2r112
|
APN |
17 |
22,619,032 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02465:Vmn2r112
|
APN |
17 |
22,614,994 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4576001:Vmn2r112
|
UTSW |
17 |
22,614,931 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0278:Vmn2r112
|
UTSW |
17 |
22,603,006 (GRCm38) |
missense |
probably benign |
0.44 |
|
R0328:Vmn2r112
|
UTSW |
17 |
22,605,270 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0583:Vmn2r112
|
UTSW |
17 |
22,618,949 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0831:Vmn2r112
|
UTSW |
17 |
22,614,999 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1080:Vmn2r112
|
UTSW |
17 |
22,618,999 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1245:Vmn2r112
|
UTSW |
17 |
22,603,247 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1321:Vmn2r112
|
UTSW |
17 |
22,618,519 (GRCm38) |
nonsense |
probably null |
|
|
R1381:Vmn2r112
|
UTSW |
17 |
22,618,486 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1519:Vmn2r112
|
UTSW |
17 |
22,618,903 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R1572:Vmn2r112
|
UTSW |
17 |
22,603,144 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R1590:Vmn2r112
|
UTSW |
17 |
22,615,008 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1640:Vmn2r112
|
UTSW |
17 |
22,605,116 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2221:Vmn2r112
|
UTSW |
17 |
22,601,233 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R2223:Vmn2r112
|
UTSW |
17 |
22,601,233 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R2310:Vmn2r112
|
UTSW |
17 |
22,603,115 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2312:Vmn2r112
|
UTSW |
17 |
22,603,115 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2337:Vmn2r112
|
UTSW |
17 |
22,603,115 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2339:Vmn2r112
|
UTSW |
17 |
22,603,115 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2340:Vmn2r112
|
UTSW |
17 |
22,603,115 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2341:Vmn2r112
|
UTSW |
17 |
22,603,115 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2342:Vmn2r112
|
UTSW |
17 |
22,603,115 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2401:Vmn2r112
|
UTSW |
17 |
22,603,115 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2860:Vmn2r112
|
UTSW |
17 |
22,603,115 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2861:Vmn2r112
|
UTSW |
17 |
22,603,115 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2926:Vmn2r112
|
UTSW |
17 |
22,615,003 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R3236:Vmn2r112
|
UTSW |
17 |
22,603,115 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3237:Vmn2r112
|
UTSW |
17 |
22,603,115 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3977:Vmn2r112
|
UTSW |
17 |
22,603,115 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3979:Vmn2r112
|
UTSW |
17 |
22,603,115 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4168:Vmn2r112
|
UTSW |
17 |
22,603,088 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4256:Vmn2r112
|
UTSW |
17 |
22,618,412 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4386:Vmn2r112
|
UTSW |
17 |
22,601,322 (GRCm38) |
missense |
probably benign |
0.36 |
|
R4912:Vmn2r112
|
UTSW |
17 |
22,603,382 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4947:Vmn2r112
|
UTSW |
17 |
22,602,879 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5446:Vmn2r112
|
UTSW |
17 |
22,618,250 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5870:Vmn2r112
|
UTSW |
17 |
22,619,023 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6351:Vmn2r112
|
UTSW |
17 |
22,601,278 (GRCm38) |
missense |
probably benign |
|
|
R6384:Vmn2r112
|
UTSW |
17 |
22,605,155 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6390:Vmn2r112
|
UTSW |
17 |
22,605,249 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6401:Vmn2r112
|
UTSW |
17 |
22,603,551 (GRCm38) |
nonsense |
probably null |
|
|
R6405:Vmn2r112
|
UTSW |
17 |
22,618,235 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6620:Vmn2r112
|
UTSW |
17 |
22,603,101 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6648:Vmn2r112
|
UTSW |
17 |
22,618,486 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6649:Vmn2r112
|
UTSW |
17 |
22,601,179 (GRCm38) |
missense |
probably null |
1.00 |
|
R6653:Vmn2r112
|
UTSW |
17 |
22,601,179 (GRCm38) |
missense |
probably null |
1.00 |
|
R6654:Vmn2r112
|
UTSW |
17 |
22,603,469 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6700:Vmn2r112
|
UTSW |
17 |
22,603,481 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R6993:Vmn2r112
|
UTSW |
17 |
22,603,214 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7052:Vmn2r112
|
UTSW |
17 |
22,602,526 (GRCm38) |
missense |
probably benign |
|
|
R7454:Vmn2r112
|
UTSW |
17 |
22,603,307 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7763:Vmn2r112
|
UTSW |
17 |
22,603,118 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8032:Vmn2r112
|
UTSW |
17 |
22,603,394 (GRCm38) |
missense |
probably benign |
0.21 |
|
R8177:Vmn2r112
|
UTSW |
17 |
22,603,613 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R8263:Vmn2r112
|
UTSW |
17 |
22,605,159 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8395:Vmn2r112
|
UTSW |
17 |
22,618,606 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8492:Vmn2r112
|
UTSW |
17 |
22,602,489 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8889:Vmn2r112
|
UTSW |
17 |
22,618,631 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8892:Vmn2r112
|
UTSW |
17 |
22,618,631 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9246:Vmn2r112
|
UTSW |
17 |
22,605,107 (GRCm38) |
missense |
probably benign |
0.21 |
|
R9269:Vmn2r112
|
UTSW |
17 |
22,601,232 (GRCm38) |
missense |
probably benign |
|
|
R9273:Vmn2r112
|
UTSW |
17 |
22,618,740 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9288:Vmn2r112
|
UTSW |
17 |
22,603,342 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9352:Vmn2r112
|
UTSW |
17 |
22,603,498 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9406:Vmn2r112
|
UTSW |
17 |
22,605,242 (GRCm38) |
nonsense |
probably null |
|
|
R9432:Vmn2r112
|
UTSW |
17 |
22,602,252 (GRCm38) |
missense |
|
|
|
R9728:Vmn2r112
|
UTSW |
17 |
22,605,127 (GRCm38) |
missense |
probably damaging |
0.96 |
|
Z1088:Vmn2r112
|
UTSW |
17 |
22,605,078 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGCAAATATGCTCTGGCTTTGGC -3'
(R):5'- TGTCTGAGATGACCAACCCTACCC -3'
Sequencing Primer
(F):5'- GTGTAATGGCCCTTACAAGC -3'
(R):5'- CCAGTTCCAACCAAAATGAATTATG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation