Incidental Mutation 'R7019:Vmn2r57'
| ID |
545504 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r57
|
| Ensembl Gene |
ENSMUSG00000066537 |
| Gene Name |
vomeronasal 2, receptor 57 |
| Synonyms |
EG269902 |
| MMRRC Submission |
045120-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R7019 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
41049156-41098065 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41078089 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 123
(L123P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125817
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094532]
[ENSMUST00000165029]
|
| AlphaFold |
L7N269 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094532
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165029
AA Change: L123P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125817
Gene: ENSMUSG00000066537
AA Change: L123P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
77 |
471 |
1.4e-44 |
PFAM |
|
Pfam:NCD3G
|
514 |
567 |
2.7e-23 |
PFAM |
|
Pfam:7tm_3
|
600 |
835 |
1.8e-52 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
A |
T |
16: 8,436,395 (GRCm39) |
K414* |
probably null |
Het |
| Aco1 |
T |
A |
4: 40,186,376 (GRCm39) |
I596N |
probably damaging |
Het |
| Adgre1 |
A |
C |
17: 57,717,945 (GRCm39) |
D319A |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,916,340 (GRCm39) |
V445A |
probably benign |
Het |
| Btd |
A |
C |
14: 31,389,062 (GRCm39) |
Q261P |
probably damaging |
Het |
| Btd |
G |
T |
14: 31,389,063 (GRCm39) |
Q261H |
possibly damaging |
Het |
| C7 |
T |
A |
15: 5,075,164 (GRCm39) |
Y176F |
probably benign |
Het |
| Ccdc102a |
T |
C |
8: 95,636,431 (GRCm39) |
S287G |
probably benign |
Het |
| Ccdc178 |
T |
A |
18: 22,283,495 (GRCm39) |
T12S |
probably benign |
Het |
| Cnga4 |
G |
T |
7: 105,055,036 (GRCm39) |
A104S |
probably benign |
Het |
| Col10a1 |
G |
T |
10: 34,270,947 (GRCm39) |
L306F |
probably damaging |
Het |
| Cpne5 |
T |
C |
17: 29,445,196 (GRCm39) |
D36G |
probably damaging |
Het |
| Csmd2 |
G |
A |
4: 128,262,856 (GRCm39) |
D681N |
|
Het |
| Cspg4b |
C |
T |
13: 113,488,284 (GRCm39) |
T102I |
probably benign |
Het |
| Cstl1 |
A |
G |
2: 148,597,223 (GRCm39) |
M75V |
probably benign |
Het |
| Cyp26a1 |
T |
C |
19: 37,687,260 (GRCm39) |
L149P |
probably damaging |
Het |
| D630045J12Rik |
T |
G |
6: 38,171,570 (GRCm39) |
E866A |
probably benign |
Het |
| Dlec1 |
C |
T |
9: 118,941,490 (GRCm39) |
P292L |
probably benign |
Het |
| Dpp3 |
T |
G |
19: 4,966,817 (GRCm39) |
E402A |
possibly damaging |
Het |
| Egf |
T |
C |
3: 129,511,713 (GRCm39) |
|
probably null |
Het |
| Epha5 |
T |
C |
5: 84,564,321 (GRCm39) |
Q15R |
possibly damaging |
Het |
| Esyt3 |
A |
G |
9: 99,197,338 (GRCm39) |
F831L |
probably benign |
Het |
| Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
| Fut7 |
A |
G |
2: 25,315,792 (GRCm39) |
D350G |
probably benign |
Het |
| Gab1 |
C |
A |
8: 81,511,446 (GRCm39) |
E466D |
probably damaging |
Het |
| Glrp1 |
A |
T |
1: 88,430,890 (GRCm39) |
M160K |
unknown |
Het |
| Gngt1 |
T |
C |
6: 3,994,088 (GRCm39) |
|
probably null |
Het |
| Gprc6a |
A |
T |
10: 51,507,508 (GRCm39) |
V7E |
possibly damaging |
Het |
| Idh3b |
A |
T |
2: 130,122,886 (GRCm39) |
V301D |
probably damaging |
Het |
| Ifi202b |
A |
C |
1: 173,791,524 (GRCm39) |
C385G |
probably benign |
Het |
| Ilvbl |
T |
A |
10: 78,414,920 (GRCm39) |
L261Q |
probably damaging |
Het |
| Irx6 |
T |
A |
8: 93,405,362 (GRCm39) |
L410Q |
probably damaging |
Het |
| Ism2 |
T |
C |
12: 87,346,437 (GRCm39) |
M15V |
unknown |
Het |
| Itih5 |
C |
A |
2: 10,195,138 (GRCm39) |
R177S |
probably damaging |
Het |
| Klra3 |
C |
T |
6: 130,304,087 (GRCm39) |
G202R |
probably damaging |
Het |
| Krt7 |
T |
C |
15: 101,311,851 (GRCm39) |
V103A |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,661,475 (GRCm39) |
S2145P |
probably damaging |
Het |
| Mlph |
A |
G |
1: 90,869,428 (GRCm39) |
R477G |
probably damaging |
Het |
| Mybpc1 |
T |
A |
10: 88,379,581 (GRCm39) |
L653F |
probably damaging |
Het |
| Myrfl |
A |
G |
10: 116,617,852 (GRCm39) |
|
probably null |
Het |
| Myrip |
T |
G |
9: 120,251,573 (GRCm39) |
L232R |
probably damaging |
Het |
| Nrdc |
A |
T |
4: 108,885,999 (GRCm39) |
H126L |
probably benign |
Het |
| Or4n5 |
A |
T |
14: 50,133,124 (GRCm39) |
I45N |
probably damaging |
Het |
| Or5p50 |
G |
T |
7: 107,422,365 (GRCm39) |
L104I |
probably benign |
Het |
| Or8c11 |
T |
A |
9: 38,290,098 (GRCm39) |
L307Q |
possibly damaging |
Het |
| Pcdhb10 |
T |
A |
18: 37,546,056 (GRCm39) |
N377K |
probably damaging |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Prkdc |
A |
C |
16: 15,587,830 (GRCm39) |
I2572L |
probably benign |
Het |
| Ptpro |
C |
A |
6: 137,357,476 (GRCm39) |
D322E |
probably benign |
Het |
| R3hcc1 |
A |
G |
14: 69,941,574 (GRCm39) |
I332T |
probably damaging |
Het |
| Rab8a |
T |
C |
8: 72,915,227 (GRCm39) |
F9L |
probably damaging |
Het |
| Ranbp3l |
A |
T |
15: 9,057,241 (GRCm39) |
K165N |
probably damaging |
Het |
| Rock2 |
T |
A |
12: 17,027,741 (GRCm39) |
C1353S |
probably damaging |
Het |
| Rsad2 |
T |
A |
12: 26,506,418 (GRCm39) |
M1L |
possibly damaging |
Het |
| Tymp |
A |
T |
15: 89,260,484 (GRCm39) |
|
probably null |
Het |
| Vmn1r104 |
A |
G |
7: 20,268,491 (GRCm39) |
M244V |
probably benign |
Het |
| Vmn1r232 |
G |
A |
17: 21,133,547 (GRCm39) |
T351M |
possibly damaging |
Het |
| Vmn2r50 |
A |
G |
7: 9,784,172 (GRCm39) |
Y101H |
probably benign |
Het |
| Wdr17 |
T |
C |
8: 55,134,488 (GRCm39) |
N331D |
probably damaging |
Het |
| Wdr47 |
C |
T |
3: 108,521,671 (GRCm39) |
Q89* |
probably null |
Het |
| Zcchc4 |
A |
T |
5: 52,941,375 (GRCm39) |
T57S |
probably benign |
Het |
|
| Other mutations in Vmn2r57 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00159:Vmn2r57
|
APN |
7 |
41,078,209 (GRCm39) |
missense |
probably benign |
|
|
IGL01108:Vmn2r57
|
APN |
7 |
41,077,008 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01112:Vmn2r57
|
APN |
7 |
41,074,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01516:Vmn2r57
|
APN |
7 |
41,049,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01880:Vmn2r57
|
APN |
7 |
41,049,619 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02117:Vmn2r57
|
APN |
7 |
41,049,874 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02500:Vmn2r57
|
APN |
7 |
41,077,650 (GRCm39) |
missense |
probably benign |
|
|
IGL02801:Vmn2r57
|
APN |
7 |
41,098,056 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02993:Vmn2r57
|
APN |
7 |
41,077,498 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02996:Vmn2r57
|
APN |
7 |
41,049,165 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0008:Vmn2r57
|
UTSW |
7 |
41,050,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0032:Vmn2r57
|
UTSW |
7 |
41,049,157 (GRCm39) |
splice site |
probably null |
|
|
R0305:Vmn2r57
|
UTSW |
7 |
41,076,967 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0469:Vmn2r57
|
UTSW |
7 |
41,077,216 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0510:Vmn2r57
|
UTSW |
7 |
41,077,216 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0847:Vmn2r57
|
UTSW |
7 |
41,078,225 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1025:Vmn2r57
|
UTSW |
7 |
41,077,228 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1081:Vmn2r57
|
UTSW |
7 |
41,077,635 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1479:Vmn2r57
|
UTSW |
7 |
41,077,254 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R1579:Vmn2r57
|
UTSW |
7 |
41,049,548 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1764:Vmn2r57
|
UTSW |
7 |
41,050,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1848:Vmn2r57
|
UTSW |
7 |
41,077,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2006:Vmn2r57
|
UTSW |
7 |
41,098,001 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2197:Vmn2r57
|
UTSW |
7 |
41,078,249 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2242:Vmn2r57
|
UTSW |
7 |
41,077,498 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2394:Vmn2r57
|
UTSW |
7 |
41,049,619 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R3937:Vmn2r57
|
UTSW |
7 |
41,077,554 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4193:Vmn2r57
|
UTSW |
7 |
41,077,663 (GRCm39) |
missense |
probably benign |
|
|
R4423:Vmn2r57
|
UTSW |
7 |
41,076,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4865:Vmn2r57
|
UTSW |
7 |
41,049,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4947:Vmn2r57
|
UTSW |
7 |
41,049,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5042:Vmn2r57
|
UTSW |
7 |
41,078,086 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5084:Vmn2r57
|
UTSW |
7 |
41,075,974 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5177:Vmn2r57
|
UTSW |
7 |
41,049,664 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5192:Vmn2r57
|
UTSW |
7 |
41,077,363 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5289:Vmn2r57
|
UTSW |
7 |
41,049,398 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5745:Vmn2r57
|
UTSW |
7 |
41,097,895 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6051:Vmn2r57
|
UTSW |
7 |
41,097,896 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6155:Vmn2r57
|
UTSW |
7 |
41,078,114 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6248:Vmn2r57
|
UTSW |
7 |
41,049,284 (GRCm39) |
missense |
probably benign |
|
|
R6381:Vmn2r57
|
UTSW |
7 |
41,078,242 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7126:Vmn2r57
|
UTSW |
7 |
41,049,218 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7146:Vmn2r57
|
UTSW |
7 |
41,097,895 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7215:Vmn2r57
|
UTSW |
7 |
41,049,710 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7432:Vmn2r57
|
UTSW |
7 |
41,076,148 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7633:Vmn2r57
|
UTSW |
7 |
41,074,513 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7811:Vmn2r57
|
UTSW |
7 |
41,074,439 (GRCm39) |
nonsense |
probably null |
|
|
R8025:Vmn2r57
|
UTSW |
7 |
41,076,183 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8332:Vmn2r57
|
UTSW |
7 |
41,049,677 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8345:Vmn2r57
|
UTSW |
7 |
41,076,968 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8360:Vmn2r57
|
UTSW |
7 |
41,049,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8738:Vmn2r57
|
UTSW |
7 |
41,077,020 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8758:Vmn2r57
|
UTSW |
7 |
41,078,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8955:Vmn2r57
|
UTSW |
7 |
41,049,571 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8985:Vmn2r57
|
UTSW |
7 |
41,049,259 (GRCm39) |
missense |
probably benign |
|
|
R9108:Vmn2r57
|
UTSW |
7 |
41,078,192 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9160:Vmn2r57
|
UTSW |
7 |
41,076,159 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9354:Vmn2r57
|
UTSW |
7 |
41,049,663 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9566:Vmn2r57
|
UTSW |
7 |
41,077,089 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9633:Vmn2r57
|
UTSW |
7 |
41,076,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0026:Vmn2r57
|
UTSW |
7 |
41,077,985 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
X0026:Vmn2r57
|
UTSW |
7 |
41,077,549 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0065:Vmn2r57
|
UTSW |
7 |
41,077,395 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1176:Vmn2r57
|
UTSW |
7 |
41,049,922 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATATATGACACCAGTTCCCAC -3'
(R):5'- CTGATAGGCCAAGATTCAAGGAC -3'
Sequencing Primer
(F):5'- ACATCCTACTGCTCACCTGTGG -3'
(R):5'- GGCCAAGATTCAAGGACTAAATATTC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation