Incidental Mutation 'R8889:Vmn2r112'
ID |
677592 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r112
|
Ensembl Gene |
ENSMUSG00000094921 |
Gene Name |
vomeronasal 2, receptor 112 |
Synonyms |
EG628185 |
MMRRC Submission |
068693-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R8889 (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 22837612 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 691
(Y691C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000094994
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097381]
|
AlphaFold |
L7N221 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097381
AA Change: Y691C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000094994 Gene: ENSMUSG00000094921 AA Change: Y691C
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 |
0.6329 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (78/78) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
T |
A |
7: 119,815,606 (GRCm39) |
L285I |
probably damaging |
Het |
Abcc2 |
T |
G |
19: 43,795,571 (GRCm39) |
S442R |
possibly damaging |
Het |
Adgrl3 |
A |
T |
5: 81,874,516 (GRCm39) |
I938F |
probably damaging |
Het |
Ank1 |
T |
C |
8: 23,606,990 (GRCm39) |
L1297P |
probably damaging |
Het |
Ap3b1 |
G |
A |
13: 94,679,348 (GRCm39) |
V997M |
unknown |
Het |
Ash2l |
T |
C |
8: 26,313,247 (GRCm39) |
K413R |
probably benign |
Het |
Cacnb1 |
A |
T |
11: 97,901,192 (GRCm39) |
V220E |
probably damaging |
Het |
Cacul1 |
A |
T |
19: 60,568,960 (GRCm39) |
L66Q |
probably damaging |
Het |
Camkv |
C |
T |
9: 107,823,333 (GRCm39) |
R120* |
probably null |
Het |
Ccny |
T |
G |
18: 9,345,235 (GRCm39) |
S180R |
probably damaging |
Het |
Cdh23 |
G |
T |
10: 60,143,284 (GRCm39) |
H3012Q |
probably damaging |
Het |
Clasp2 |
T |
A |
9: 113,709,251 (GRCm39) |
L680Q |
probably damaging |
Het |
Clip1 |
A |
T |
5: 123,717,565 (GRCm39) |
S1241R |
probably benign |
Het |
Cthrc1 |
T |
A |
15: 38,940,445 (GRCm39) |
L16H |
probably damaging |
Het |
Ctnna1 |
G |
A |
18: 35,372,586 (GRCm39) |
V514I |
possibly damaging |
Het |
Ddr1 |
A |
C |
17: 35,993,556 (GRCm39) |
I852S |
probably benign |
Het |
Echs1 |
A |
C |
7: 139,688,031 (GRCm39) |
L258R |
probably damaging |
Het |
Epha8 |
G |
T |
4: 136,661,850 (GRCm39) |
H582N |
probably benign |
Het |
Exph5 |
G |
T |
9: 53,287,955 (GRCm39) |
G1679W |
probably damaging |
Het |
Fhod3 |
G |
A |
18: 25,189,452 (GRCm39) |
|
probably null |
Het |
Gm10803 |
G |
A |
2: 93,394,281 (GRCm39) |
D18N |
unknown |
Het |
Gpr152 |
T |
A |
19: 4,192,723 (GRCm39) |
I88N |
probably damaging |
Het |
Gpr179 |
T |
C |
11: 97,226,590 (GRCm39) |
D1855G |
possibly damaging |
Het |
H2al2a |
T |
A |
2: 18,001,599 (GRCm39) |
D29V |
probably damaging |
Het |
Hnrnpf |
T |
G |
6: 117,901,753 (GRCm39) |
S346A |
probably benign |
Het |
Hsd11b2 |
C |
T |
8: 106,249,263 (GRCm39) |
R213C |
probably damaging |
Het |
Il17rd |
A |
G |
14: 26,821,930 (GRCm39) |
D552G |
possibly damaging |
Het |
Ipo9 |
T |
C |
1: 135,314,544 (GRCm39) |
N904S |
possibly damaging |
Het |
Klhl14 |
T |
G |
18: 21,691,220 (GRCm39) |
T437P |
possibly damaging |
Het |
Krt5 |
T |
C |
15: 101,619,185 (GRCm39) |
M268V |
probably benign |
Het |
Lhx4 |
T |
C |
1: 155,581,013 (GRCm39) |
T171A |
possibly damaging |
Het |
Ltn1 |
A |
T |
16: 87,229,230 (GRCm39) |
|
probably benign |
Het |
Macf1 |
A |
G |
4: 123,249,036 (GRCm39) |
L7165P |
probably damaging |
Het |
Micall2 |
T |
A |
5: 139,703,254 (GRCm39) |
H194L |
probably damaging |
Het |
Mmp16 |
T |
A |
4: 18,051,820 (GRCm39) |
Y270N |
probably damaging |
Het |
Nme6 |
T |
G |
9: 109,668,706 (GRCm39) |
F41V |
probably damaging |
Het |
Npffr1 |
A |
G |
10: 61,449,939 (GRCm39) |
N71S |
possibly damaging |
Het |
Or1p4-ps1 |
T |
C |
11: 74,207,949 (GRCm39) |
W33R |
probably damaging |
Het |
Or4k41 |
A |
G |
2: 111,279,967 (GRCm39) |
I161V |
probably benign |
Het |
Pard3b |
T |
A |
1: 62,677,026 (GRCm39) |
Y1186N |
probably damaging |
Het |
Pate5 |
T |
A |
9: 35,750,682 (GRCm39) |
T47S |
probably damaging |
Het |
Pcca |
A |
G |
14: 122,795,123 (GRCm39) |
|
probably benign |
Het |
Plekha8 |
A |
G |
6: 54,592,540 (GRCm39) |
|
probably benign |
Het |
Ptpn14 |
T |
A |
1: 189,554,872 (GRCm39) |
L144* |
probably null |
Het |
Rad52 |
C |
T |
6: 119,890,041 (GRCm39) |
R56C |
probably damaging |
Het |
Rdx |
C |
T |
9: 51,997,753 (GRCm39) |
R576C |
probably damaging |
Het |
Rnf135 |
C |
T |
11: 80,074,957 (GRCm39) |
T72I |
probably benign |
Het |
Robo4 |
G |
T |
9: 37,314,601 (GRCm39) |
R196L |
probably benign |
Het |
Rsf1 |
G |
GACGTCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
A |
T |
7: 97,328,171 (GRCm39) |
I1058F |
|
Het |
Ryr2 |
A |
T |
13: 11,799,990 (GRCm39) |
V919E |
probably damaging |
Het |
Slc39a6 |
A |
T |
18: 24,729,386 (GRCm39) |
Y442* |
probably null |
Het |
Slc4a11 |
T |
G |
2: 130,529,140 (GRCm39) |
S437R |
probably damaging |
Het |
Slc7a6 |
T |
A |
8: 106,922,534 (GRCm39) |
V440E |
probably damaging |
Het |
Sox2 |
A |
T |
3: 34,705,129 (GRCm39) |
N189Y |
possibly damaging |
Het |
Spata13 |
A |
T |
14: 60,994,030 (GRCm39) |
M1161L |
probably benign |
Het |
Spock3 |
T |
A |
8: 63,404,986 (GRCm39) |
Y51* |
probably null |
Het |
Sptbn1 |
A |
G |
11: 30,067,800 (GRCm39) |
Y1805H |
probably benign |
Het |
Tcerg1l |
C |
T |
7: 137,999,260 (GRCm39) |
W41* |
probably null |
Het |
Tdrd9 |
A |
G |
12: 111,979,718 (GRCm39) |
Y401C |
probably benign |
Het |
Tex47 |
A |
T |
5: 7,355,115 (GRCm39) |
I99F |
probably damaging |
Het |
Tlr9 |
G |
A |
9: 106,099,834 (GRCm39) |
|
probably benign |
Het |
Tmem209 |
T |
A |
6: 30,497,942 (GRCm39) |
S276C |
possibly damaging |
Het |
Tmprss11f |
A |
C |
5: 86,687,618 (GRCm39) |
S97A |
possibly damaging |
Het |
Tnfaip8 |
ACACACTC |
AC |
18: 50,179,908 (GRCm39) |
|
probably benign |
Het |
Ttc7 |
T |
A |
17: 87,637,520 (GRCm39) |
M425K |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,739,466 (GRCm39) |
G3737D |
unknown |
Het |
Unc13b |
A |
T |
4: 43,176,484 (GRCm39) |
R2437S |
unknown |
Het |
Uqcrc1 |
C |
T |
9: 108,766,186 (GRCm39) |
R58C |
probably damaging |
Het |
Vmn1r128 |
A |
G |
7: 21,083,740 (GRCm39) |
Y148C |
possibly damaging |
Het |
Vmn1r193 |
T |
C |
13: 22,403,839 (GRCm39) |
Y51C |
probably benign |
Het |
Vmn2r25 |
T |
A |
6: 123,800,569 (GRCm39) |
D591V |
probably damaging |
Het |
Vmn2r94 |
A |
G |
17: 18,464,335 (GRCm39) |
S652P |
possibly damaging |
Het |
Vps50 |
T |
A |
6: 3,536,967 (GRCm39) |
C313S |
probably damaging |
Het |
Vwa5b1 |
A |
G |
4: 138,338,041 (GRCm39) |
V93A |
probably benign |
Het |
Xrcc5 |
T |
G |
1: 72,382,190 (GRCm39) |
D455E |
possibly damaging |
Het |
Zdhhc6 |
T |
A |
19: 55,290,987 (GRCm39) |
|
probably benign |
Het |
Zfp964 |
G |
A |
8: 70,116,405 (GRCm39) |
G335D |
probably damaging |
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 |
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 |
R9288:Vmn2r112
|
UTSW |
17 |
22,822,323 (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'- AGGACTCTCACCTACATCTTGC -3'
(R):5'- ACAGGAGAGCCAAGTATCCCAG -3'
Sequencing Primer
(F):5'- GGACTCTCACCTACATCTTGCTAATC -3'
(R):5'- CCCAGAATAGAGTAAAATGCATTGAC -3'
|
Posted On |
2021-08-02 |