Incidental Mutation 'R6993:Vmn2r112'
| ID |
543999 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r112
|
| Ensembl Gene |
ENSMUSG00000094921 |
| Gene Name |
vomeronasal 2, receptor 112 |
| Synonyms |
EG628185 |
| MMRRC Submission |
045099-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R6993 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
22820129-22838114 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22822195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 291
(L291P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094994
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097381]
|
| AlphaFold |
L7N221 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097381
AA Change: L291P
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000094994
Gene: ENSMUSG00000094921
AA Change: L291P
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
99% (66/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
T |
C |
8: 79,975,053 (GRCm39) |
E10G |
possibly damaging |
Het |
| Akap9 |
A |
G |
5: 4,115,866 (GRCm39) |
I3429V |
possibly damaging |
Het |
| Braf |
T |
A |
6: 39,620,097 (GRCm39) |
I441F |
probably damaging |
Het |
| C5ar1 |
A |
T |
7: 15,982,837 (GRCm39) |
V61E |
probably damaging |
Het |
| Camk2a |
C |
A |
18: 61,076,247 (GRCm39) |
|
probably benign |
Het |
| Cd163 |
A |
G |
6: 124,294,673 (GRCm39) |
Y579C |
probably damaging |
Het |
| Celf1 |
T |
C |
2: 90,840,821 (GRCm39) |
Y363H |
probably damaging |
Het |
| Cntn3 |
T |
C |
6: 102,255,365 (GRCm39) |
T178A |
probably damaging |
Het |
| Cryab |
C |
T |
9: 50,664,748 (GRCm39) |
P58S |
probably benign |
Het |
| Ctsf |
G |
T |
19: 4,908,511 (GRCm39) |
R290L |
probably benign |
Het |
| Ctsw |
T |
A |
19: 5,515,865 (GRCm39) |
I258F |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,234,299 (GRCm39) |
|
probably null |
Het |
| Drg1 |
TCATCTTCCA |
TCA |
11: 3,200,294 (GRCm39) |
|
probably null |
Het |
| Etfb |
A |
G |
7: 43,105,978 (GRCm39) |
T172A |
possibly damaging |
Het |
| Etfdh |
A |
G |
3: 79,519,338 (GRCm39) |
Y272H |
probably benign |
Het |
| Ewsr1 |
C |
T |
11: 5,021,573 (GRCm39) |
R454Q |
probably benign |
Het |
| F2rl2 |
T |
A |
13: 95,837,642 (GRCm39) |
I229N |
probably damaging |
Het |
| Fam162a |
A |
T |
16: 35,870,215 (GRCm39) |
I88N |
probably damaging |
Het |
| Fastkd5 |
A |
G |
2: 130,458,459 (GRCm39) |
S44P |
probably benign |
Het |
| Fat3 |
T |
G |
9: 15,830,517 (GRCm39) |
S4326R |
probably damaging |
Het |
| Fbf1 |
T |
C |
11: 116,043,610 (GRCm39) |
K400E |
probably benign |
Het |
| Fndc7 |
A |
G |
3: 108,783,907 (GRCm39) |
V234A |
probably benign |
Het |
| Gfi1 |
T |
A |
5: 107,865,634 (GRCm39) |
H481L |
probably damaging |
Het |
| Gm5591 |
T |
A |
7: 38,218,647 (GRCm39) |
H742L |
probably benign |
Het |
| Golm1 |
ACTTCTTCT |
ACTTCT |
13: 59,797,390 (GRCm39) |
|
probably benign |
Het |
| H2-DMb1 |
A |
C |
17: 34,376,324 (GRCm39) |
T148P |
possibly damaging |
Het |
| H2-T3 |
A |
G |
17: 36,497,962 (GRCm39) |
L317P |
probably damaging |
Het |
| Hes3 |
T |
C |
4: 152,371,380 (GRCm39) |
T190A |
probably benign |
Het |
| Hivep1 |
C |
T |
13: 42,312,190 (GRCm39) |
L1477F |
possibly damaging |
Het |
| Insr |
C |
T |
8: 3,308,752 (GRCm39) |
G95S |
probably damaging |
Het |
| Irf9 |
A |
G |
14: 55,846,414 (GRCm39) |
I394V |
probably benign |
Het |
| Kat2b |
T |
C |
17: 53,945,550 (GRCm39) |
L323P |
probably damaging |
Het |
| Kdr |
T |
C |
5: 76,133,071 (GRCm39) |
D69G |
probably benign |
Het |
| Krt1c |
C |
T |
15: 101,724,395 (GRCm39) |
E290K |
probably damaging |
Het |
| Krtap4-6 |
G |
T |
11: 99,556,545 (GRCm39) |
R61S |
unknown |
Het |
| Ldc1 |
A |
G |
4: 130,112,106 (GRCm39) |
L192P |
probably damaging |
Het |
| Lrrc27 |
A |
T |
7: 138,822,540 (GRCm39) |
K477M |
probably damaging |
Het |
| Lvrn |
T |
C |
18: 47,015,365 (GRCm39) |
V579A |
probably benign |
Het |
| Malrd1 |
A |
T |
2: 16,155,602 (GRCm39) |
I2004L |
unknown |
Het |
| Mast4 |
A |
T |
13: 102,872,482 (GRCm39) |
N2103K |
probably benign |
Het |
| Mast4 |
C |
T |
13: 102,941,155 (GRCm39) |
V301I |
probably damaging |
Het |
| Myo18a |
T |
A |
11: 77,749,900 (GRCm39) |
|
probably benign |
Het |
| Or10d5 |
T |
A |
9: 39,861,933 (GRCm39) |
M45L |
probably benign |
Het |
| Or52ab2 |
G |
T |
7: 102,969,998 (GRCm39) |
|
probably benign |
Het |
| Pcdhga10 |
A |
G |
18: 37,882,309 (GRCm39) |
Y690C |
probably damaging |
Het |
| Pdcd2 |
A |
G |
17: 15,747,343 (GRCm39) |
Y65H |
probably damaging |
Het |
| Ppp1r12a |
A |
G |
10: 108,076,698 (GRCm39) |
E309G |
probably benign |
Het |
| Psmb8 |
A |
G |
17: 34,418,617 (GRCm39) |
D123G |
probably damaging |
Het |
| Ptcd3 |
A |
T |
6: 71,862,299 (GRCm39) |
W513R |
probably damaging |
Het |
| Ptx4 |
G |
A |
17: 25,343,898 (GRCm39) |
V383I |
possibly damaging |
Het |
| Ric1 |
T |
C |
19: 29,564,013 (GRCm39) |
L589S |
probably damaging |
Het |
| Rmnd5b |
A |
G |
11: 51,515,427 (GRCm39) |
|
probably benign |
Het |
| Sec16a |
A |
T |
2: 26,313,586 (GRCm39) |
S1925T |
probably damaging |
Het |
| Slc16a11 |
T |
A |
11: 70,106,842 (GRCm39) |
M360K |
possibly damaging |
Het |
| Slc19a2 |
T |
A |
1: 164,088,391 (GRCm39) |
F79I |
probably benign |
Het |
| Slc2a6 |
G |
T |
2: 26,917,255 (GRCm39) |
S45R |
probably damaging |
Het |
| Slco1a7 |
G |
A |
6: 141,711,468 (GRCm39) |
T81I |
possibly damaging |
Het |
| Sppl3 |
T |
A |
5: 115,220,349 (GRCm39) |
M87K |
probably damaging |
Het |
| Tbcel |
A |
T |
9: 42,327,413 (GRCm39) |
L330* |
probably null |
Het |
| Tbx5 |
A |
T |
5: 120,009,454 (GRCm39) |
Y321F |
possibly damaging |
Het |
| Tenm3 |
C |
T |
8: 48,689,474 (GRCm39) |
D2038N |
probably damaging |
Het |
| Tesk1 |
A |
G |
4: 43,447,006 (GRCm39) |
T465A |
probably benign |
Het |
| Unc45a |
A |
T |
7: 79,975,403 (GRCm39) |
Y934N |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,588,952 (GRCm39) |
Q1039L |
possibly damaging |
Het |
| Wwc2 |
A |
T |
8: 48,300,500 (GRCm39) |
F988I |
unknown |
Het |
| Zfp947 |
G |
A |
17: 22,364,961 (GRCm39) |
P238S |
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 |
|
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 |
|
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'- TGGTCATCTCAGACAGTGATCAAG -3'
(R):5'- CATCTGGGCATTTGACTGAGTTC -3'
Sequencing Primer
(F):5'- TCTCAGACAGTGATCAAGGTATCC -3'
(R):5'- GACTGAGTTCAATGTCTGCAC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation