Incidental Mutation 'R9288:Vmn2r112'
| ID |
704116 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r112
|
| Ensembl Gene |
ENSMUSG00000094921 |
| Gene Name |
vomeronasal 2, receptor 112 |
| Synonyms |
EG628185 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R9288 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
22820129-22838114 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 22822323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 334
(K334E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094994
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097381]
|
| AlphaFold |
L7N221 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097381
AA Change: K334E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000094994
Gene: ENSMUSG00000094921
AA Change: K334E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (60/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
T |
C |
11: 109,704,444 (GRCm39) |
D66G |
probably benign |
Het |
| Acot7 |
T |
A |
4: 152,291,263 (GRCm39) |
H76Q |
probably damaging |
Het |
| Acsf2 |
C |
T |
11: 94,464,044 (GRCm39) |
V47M |
probably benign |
Het |
| Agmat |
T |
C |
4: 141,474,391 (GRCm39) |
S91P |
probably damaging |
Het |
| Apba1 |
A |
G |
19: 23,923,145 (GRCm39) |
*843W |
probably null |
Het |
| Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
| Asz1 |
A |
G |
6: 18,051,368 (GRCm39) |
I437T |
possibly damaging |
Het |
| Bbs12 |
C |
T |
3: 37,374,712 (GRCm39) |
L387F |
probably damaging |
Het |
| BC028528 |
T |
C |
3: 95,799,227 (GRCm39) |
I6V |
probably benign |
Het |
| C6 |
A |
C |
15: 4,835,532 (GRCm39) |
K770T |
|
Het |
| Cacna1g |
T |
A |
11: 94,308,897 (GRCm39) |
K1669* |
probably null |
Het |
| Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
| Cit |
C |
T |
5: 116,123,512 (GRCm39) |
T1436I |
probably damaging |
Het |
| Col14a1 |
T |
A |
15: 55,286,918 (GRCm39) |
V913E |
unknown |
Het |
| Dlgap4 |
G |
T |
2: 156,546,514 (GRCm39) |
R394L |
possibly damaging |
Het |
| Eml6 |
T |
G |
11: 29,788,641 (GRCm39) |
|
probably null |
Het |
| Epb41l2 |
A |
G |
10: 25,355,653 (GRCm39) |
T486A |
possibly damaging |
Het |
| Fbln5 |
A |
T |
12: 101,734,728 (GRCm39) |
C181* |
probably null |
Het |
| Flnb |
A |
C |
14: 7,904,498 (GRCm38) |
D967A |
probably benign |
Het |
| Glyatl3 |
A |
G |
17: 41,221,016 (GRCm39) |
V117A |
probably benign |
Het |
| Gm4553 |
GCAGCCCCCACAGGAACTACAACCACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGA |
GCAGCCCCCACAGGA |
7: 141,719,025 (GRCm39) |
|
probably benign |
Het |
| Gpa33 |
G |
A |
1: 165,980,304 (GRCm39) |
M122I |
probably benign |
Het |
| Gtf2ird2 |
A |
G |
5: 134,221,571 (GRCm39) |
E58G |
possibly damaging |
Het |
| Hdlbp |
T |
C |
1: 93,336,773 (GRCm39) |
E1125G |
probably benign |
Het |
| Hook1 |
C |
T |
4: 95,901,505 (GRCm39) |
R488C |
probably damaging |
Het |
| Isx |
G |
T |
8: 75,619,439 (GRCm39) |
A197S |
probably benign |
Het |
| Klhl10 |
G |
T |
11: 100,347,719 (GRCm39) |
A592S |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,497,907 (GRCm39) |
D3949E |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,554,860 (GRCm39) |
I1258K |
probably benign |
Het |
| Lpin3 |
C |
A |
2: 160,745,552 (GRCm39) |
N618K |
probably damaging |
Het |
| Lrrc9 |
T |
A |
12: 72,522,858 (GRCm39) |
D701E |
probably benign |
Het |
| Mex3a |
T |
A |
3: 88,443,458 (GRCm39) |
M178K |
possibly damaging |
Het |
| Mex3b |
T |
C |
7: 82,518,159 (GRCm39) |
V158A |
probably benign |
Het |
| Myh7 |
A |
T |
14: 55,222,932 (GRCm39) |
F758I |
probably benign |
Het |
| Neb |
T |
G |
2: 52,051,403 (GRCm39) |
N6626H |
probably damaging |
Het |
| Nkd2 |
G |
T |
13: 73,995,177 (GRCm39) |
|
probably benign |
Het |
| Nsmaf |
T |
C |
4: 6,414,976 (GRCm39) |
K630R |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,976,049 (GRCm39) |
F2026Y |
probably benign |
Het |
| Olr1 |
T |
C |
6: 129,470,202 (GRCm39) |
|
probably benign |
Het |
| Osbpl1a |
A |
G |
18: 12,904,402 (GRCm39) |
L589P |
probably damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,814,345 (GRCm39) |
K58E |
probably benign |
Het |
| Poll |
T |
C |
19: 45,547,281 (GRCm39) |
I64V |
probably benign |
Het |
| Prdm10 |
A |
G |
9: 31,252,674 (GRCm39) |
E469G |
possibly damaging |
Het |
| Ptprb |
T |
A |
10: 116,155,353 (GRCm39) |
N415K |
probably benign |
Het |
| Qrich2 |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
11: 116,348,367 (GRCm39) |
|
probably benign |
Het |
| Rft1 |
A |
T |
14: 30,383,415 (GRCm39) |
K152* |
probably null |
Het |
| Rnf180 |
CGAGG |
CGAGGAGG |
13: 105,386,781 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,119 (GRCm39) |
|
probably benign |
Het |
| Sfpq |
T |
C |
4: 126,916,627 (GRCm39) |
S275P |
probably damaging |
Het |
| Slit1 |
A |
T |
19: 41,613,144 (GRCm39) |
|
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,952,927 (GRCm39) |
F705L |
probably damaging |
Het |
| Spata17 |
A |
G |
1: 186,844,756 (GRCm39) |
V281A |
possibly damaging |
Het |
| Sulf1 |
G |
A |
1: 12,856,827 (GRCm39) |
R26Q |
probably benign |
Het |
| Tbc1d4 |
T |
C |
14: 101,692,308 (GRCm39) |
Y1052C |
probably damaging |
Het |
| Tgfbr2 |
T |
C |
9: 115,939,149 (GRCm39) |
D251G |
probably benign |
Het |
| Tmem88b |
A |
T |
4: 155,868,733 (GRCm39) |
W172R |
probably damaging |
Het |
| Vdac2 |
C |
A |
14: 21,881,962 (GRCm39) |
P7T |
probably benign |
Het |
| Vmn2r8 |
A |
T |
5: 108,950,185 (GRCm39) |
S221T |
probably benign |
Het |
| Zfp608 |
G |
T |
18: 55,033,341 (GRCm39) |
N397K |
probably benign |
Het |
|
| Other mutations in Vmn2r112 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00341:Vmn2r112
|
APN |
17 |
22,837,917 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01021:Vmn2r112
|
APN |
17 |
22,837,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01122:Vmn2r112
|
APN |
17 |
22,821,988 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01360:Vmn2r112
|
APN |
17 |
22,837,603 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01536:Vmn2r112
|
APN |
17 |
22,824,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02148:Vmn2r112
|
APN |
17 |
22,838,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02465:Vmn2r112
|
APN |
17 |
22,833,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4576001:Vmn2r112
|
UTSW |
17 |
22,833,912 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0278:Vmn2r112
|
UTSW |
17 |
22,821,987 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0328:Vmn2r112
|
UTSW |
17 |
22,824,251 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0583:Vmn2r112
|
UTSW |
17 |
22,837,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0831:Vmn2r112
|
UTSW |
17 |
22,833,980 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1080:Vmn2r112
|
UTSW |
17 |
22,837,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1245:Vmn2r112
|
UTSW |
17 |
22,822,228 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1321:Vmn2r112
|
UTSW |
17 |
22,837,500 (GRCm39) |
nonsense |
probably null |
|
|
R1381:Vmn2r112
|
UTSW |
17 |
22,837,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1514:Vmn2r112
|
UTSW |
17 |
22,821,825 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1519:Vmn2r112
|
UTSW |
17 |
22,837,884 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1572:Vmn2r112
|
UTSW |
17 |
22,822,125 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1590:Vmn2r112
|
UTSW |
17 |
22,833,989 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1640:Vmn2r112
|
UTSW |
17 |
22,824,097 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2221:Vmn2r112
|
UTSW |
17 |
22,820,214 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2223:Vmn2r112
|
UTSW |
17 |
22,820,214 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2310:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2312:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2337:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2339:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2340:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2341:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2342:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2401:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2860:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2861:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2926:Vmn2r112
|
UTSW |
17 |
22,833,984 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3236:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3237:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3977:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3979:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4168:Vmn2r112
|
UTSW |
17 |
22,822,069 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4256:Vmn2r112
|
UTSW |
17 |
22,837,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4386:Vmn2r112
|
UTSW |
17 |
22,820,303 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4912:Vmn2r112
|
UTSW |
17 |
22,822,363 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4947:Vmn2r112
|
UTSW |
17 |
22,821,860 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5446:Vmn2r112
|
UTSW |
17 |
22,837,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5870:Vmn2r112
|
UTSW |
17 |
22,838,004 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6351:Vmn2r112
|
UTSW |
17 |
22,820,259 (GRCm39) |
missense |
probably benign |
|
|
R6384:Vmn2r112
|
UTSW |
17 |
22,824,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6390:Vmn2r112
|
UTSW |
17 |
22,824,230 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6401:Vmn2r112
|
UTSW |
17 |
22,822,532 (GRCm39) |
nonsense |
probably null |
|
|
R6405:Vmn2r112
|
UTSW |
17 |
22,837,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6620:Vmn2r112
|
UTSW |
17 |
22,822,082 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6648:Vmn2r112
|
UTSW |
17 |
22,837,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6649:Vmn2r112
|
UTSW |
17 |
22,820,160 (GRCm39) |
missense |
probably null |
1.00 |
|
R6653:Vmn2r112
|
UTSW |
17 |
22,820,160 (GRCm39) |
missense |
probably null |
1.00 |
|
R6654:Vmn2r112
|
UTSW |
17 |
22,822,450 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6700:Vmn2r112
|
UTSW |
17 |
22,822,462 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6993:Vmn2r112
|
UTSW |
17 |
22,822,195 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7052:Vmn2r112
|
UTSW |
17 |
22,821,507 (GRCm39) |
missense |
probably benign |
|
|
R7454:Vmn2r112
|
UTSW |
17 |
22,822,288 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7763:Vmn2r112
|
UTSW |
17 |
22,822,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8032:Vmn2r112
|
UTSW |
17 |
22,822,375 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8177:Vmn2r112
|
UTSW |
17 |
22,822,594 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8263:Vmn2r112
|
UTSW |
17 |
22,824,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8395:Vmn2r112
|
UTSW |
17 |
22,837,587 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8492:Vmn2r112
|
UTSW |
17 |
22,821,470 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8889:Vmn2r112
|
UTSW |
17 |
22,837,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8892:Vmn2r112
|
UTSW |
17 |
22,837,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9246:Vmn2r112
|
UTSW |
17 |
22,824,088 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9269:Vmn2r112
|
UTSW |
17 |
22,820,213 (GRCm39) |
missense |
probably benign |
|
|
R9273:Vmn2r112
|
UTSW |
17 |
22,837,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9352:Vmn2r112
|
UTSW |
17 |
22,822,479 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9406:Vmn2r112
|
UTSW |
17 |
22,824,223 (GRCm39) |
nonsense |
probably null |
|
|
R9432:Vmn2r112
|
UTSW |
17 |
22,821,233 (GRCm39) |
missense |
|
|
|
R9728:Vmn2r112
|
UTSW |
17 |
22,824,108 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1088:Vmn2r112
|
UTSW |
17 |
22,824,059 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGACACCGACAGTACATTAGC -3'
(R):5'- GCATGGGCAAAAGCATACAC -3'
Sequencing Primer
(F):5'- CCGACAGTACATTAGCTGTGAGC -3'
(R):5'- ACTCTTTTCAATAAACGCCATGTC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation