Incidental Mutation 'R0313:Vmn2r5'
| ID |
25321 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r5
|
| Ensembl Gene |
ENSMUSG00000068999 |
| Gene Name |
vomeronasal 2, receptor 5 |
| Synonyms |
EG667060 |
| MMRRC Submission |
038523-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
R0313 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
64490821-64509735 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 64503827 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 440
(H440L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135592
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170270]
[ENSMUST00000177184]
|
| AlphaFold |
K7N788 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170270
AA Change: H353L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000131925
Gene: ENSMUSG00000068999
AA Change: H353L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
1 |
416 |
9.9e-78 |
PFAM |
|
Pfam:NCD3G
|
458 |
511 |
8.5e-18 |
PFAM |
|
Pfam:7tm_3
|
542 |
779 |
2.3e-74 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177184
AA Change: H440L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135592
Gene: ENSMUSG00000068999
AA Change: H440L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
86 |
503 |
1.8e-80 |
PFAM |
|
Pfam:NCD3G
|
545 |
598 |
1e-14 |
PFAM |
|
Pfam:7tm_3
|
631 |
865 |
1.4e-45 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.9%
- 20x: 88.5%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg2 |
A |
G |
6: 58,672,097 (GRCm38) |
E309G |
probably benign |
Het |
| Ankmy1 |
C |
T |
1: 92,886,221 (GRCm38) |
G412D |
probably damaging |
Het |
| Cc2d1a |
G |
A |
8: 84,136,969 (GRCm38) |
T542I |
probably benign |
Het |
| Cldn18 |
T |
C |
9: 99,698,914 (GRCm38) |
I94V |
probably benign |
Het |
| Cobll1 |
G |
A |
2: 65,095,744 (GRCm38) |
R1195* |
probably null |
Het |
| Dnah7b |
A |
G |
1: 46,207,643 (GRCm38) |
T1660A |
probably damaging |
Het |
| Dzip3 |
G |
T |
16: 48,937,061 (GRCm38) |
Q870K |
probably damaging |
Het |
| Ebf4 |
T |
C |
2: 130,306,787 (GRCm38) |
|
probably benign |
Het |
| Ecpas |
A |
G |
4: 58,811,892 (GRCm38) |
I1411T |
probably benign |
Het |
| Esyt2 |
T |
C |
12: 116,347,808 (GRCm38) |
L439P |
probably damaging |
Het |
| Fbxl17 |
G |
A |
17: 63,356,851 (GRCm38) |
R67C |
probably damaging |
Het |
| Haspin |
A |
G |
11: 73,136,298 (GRCm38) |
V655A |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,344,930 (GRCm38) |
E1351G |
probably damaging |
Het |
| Lama2 |
C |
A |
10: 26,993,398 (GRCm38) |
|
probably null |
Het |
| Lcp1 |
A |
G |
14: 75,199,433 (GRCm38) |
E73G |
probably damaging |
Het |
| Ltv1 |
C |
T |
10: 13,182,860 (GRCm38) |
|
probably null |
Het |
| Mcmdc2 |
A |
G |
1: 9,932,141 (GRCm38) |
Y529C |
probably damaging |
Het |
| Myo3b |
T |
A |
2: 70,348,959 (GRCm38) |
Y1172* |
probably null |
Het |
| Ncf1 |
T |
C |
5: 134,229,567 (GRCm38) |
M1V |
probably null |
Het |
| Or4k47 |
C |
T |
2: 111,621,600 (GRCm38) |
S158N |
possibly damaging |
Het |
| Or6c8b |
A |
G |
10: 129,046,826 (GRCm38) |
V79A |
possibly damaging |
Het |
| Or8c10 |
T |
C |
9: 38,368,304 (GRCm38) |
S243P |
probably damaging |
Het |
| Pcif1 |
A |
T |
2: 164,884,419 (GRCm38) |
H80L |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,678,873 (GRCm38) |
|
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,735,080 (GRCm38) |
Y1710C |
unknown |
Het |
| Ppp1r37 |
G |
A |
7: 19,533,998 (GRCm38) |
T324I |
probably damaging |
Het |
| Prmt1 |
T |
C |
7: 44,978,748 (GRCm38) |
D176G |
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,534,571 (GRCm38) |
D501G |
probably damaging |
Het |
| Ska2 |
A |
G |
11: 87,117,814 (GRCm38) |
I89M |
possibly damaging |
Het |
| Slc39a7 |
G |
A |
17: 34,029,544 (GRCm38) |
A375V |
probably damaging |
Het |
| Ssrp1 |
T |
A |
2: 85,041,554 (GRCm38) |
I374N |
probably damaging |
Het |
| Stox2 |
C |
T |
8: 47,192,134 (GRCm38) |
G828R |
probably damaging |
Het |
| Tcam1 |
G |
A |
11: 106,284,078 (GRCm38) |
E120K |
probably benign |
Het |
| Uqcrc1 |
C |
A |
9: 108,948,574 (GRCm38) |
R114S |
possibly damaging |
Het |
| Usp38 |
A |
T |
8: 80,984,442 (GRCm38) |
L988* |
probably null |
Het |
| Wdr12 |
A |
T |
1: 60,082,579 (GRCm38) |
I271N |
possibly damaging |
Het |
| Xylt2 |
C |
T |
11: 94,669,894 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Vmn2r5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00742:Vmn2r5
|
APN |
3 |
64,491,413 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
IGL01139:Vmn2r5
|
APN |
3 |
64,491,405 (GRCm38) |
missense |
probably benign |
0.28 |
|
IGL03293:Vmn2r5
|
APN |
3 |
64,491,326 (GRCm38) |
missense |
probably benign |
0.01 |
|
PIT4581001:Vmn2r5
|
UTSW |
3 |
64,503,927 (GRCm38) |
nonsense |
probably null |
|
|
R0063:Vmn2r5
|
UTSW |
3 |
64,503,800 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0142:Vmn2r5
|
UTSW |
3 |
64,492,588 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0193:Vmn2r5
|
UTSW |
3 |
64,491,530 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R0219:Vmn2r5
|
UTSW |
3 |
64,504,313 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0620:Vmn2r5
|
UTSW |
3 |
64,503,814 (GRCm38) |
nonsense |
probably null |
|
|
R0726:Vmn2r5
|
UTSW |
3 |
64,503,765 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1073:Vmn2r5
|
UTSW |
3 |
64,491,305 (GRCm38) |
nonsense |
probably null |
|
|
R1549:Vmn2r5
|
UTSW |
3 |
64,504,000 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1581:Vmn2r5
|
UTSW |
3 |
64,491,219 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1624:Vmn2r5
|
UTSW |
3 |
64,509,695 (GRCm38) |
missense |
probably benign |
0.19 |
|
R1973:Vmn2r5
|
UTSW |
3 |
64,504,221 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1974:Vmn2r5
|
UTSW |
3 |
64,504,221 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1975:Vmn2r5
|
UTSW |
3 |
64,504,221 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1977:Vmn2r5
|
UTSW |
3 |
64,504,221 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2189:Vmn2r5
|
UTSW |
3 |
64,509,593 (GRCm38) |
missense |
probably benign |
0.27 |
|
R2484:Vmn2r5
|
UTSW |
3 |
64,503,971 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4573:Vmn2r5
|
UTSW |
3 |
64,503,918 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5243:Vmn2r5
|
UTSW |
3 |
64,504,076 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5384:Vmn2r5
|
UTSW |
3 |
64,509,510 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5385:Vmn2r5
|
UTSW |
3 |
64,509,510 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5587:Vmn2r5
|
UTSW |
3 |
64,504,076 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5588:Vmn2r5
|
UTSW |
3 |
64,504,076 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5589:Vmn2r5
|
UTSW |
3 |
64,504,076 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5590:Vmn2r5
|
UTSW |
3 |
64,504,076 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5739:Vmn2r5
|
UTSW |
3 |
64,504,076 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6113:Vmn2r5
|
UTSW |
3 |
64,491,399 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6739:Vmn2r5
|
UTSW |
3 |
64,491,216 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7106:Vmn2r5
|
UTSW |
3 |
64,491,683 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7304:Vmn2r5
|
UTSW |
3 |
64,504,250 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7402:Vmn2r5
|
UTSW |
3 |
64,495,755 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7477:Vmn2r5
|
UTSW |
3 |
64,491,639 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7571:Vmn2r5
|
UTSW |
3 |
64,504,404 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7678:Vmn2r5
|
UTSW |
3 |
64,509,522 (GRCm38) |
missense |
probably benign |
|
|
R7874:Vmn2r5
|
UTSW |
3 |
64,491,032 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8110:Vmn2r5
|
UTSW |
3 |
64,491,288 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8223:Vmn2r5
|
UTSW |
3 |
64,491,305 (GRCm38) |
nonsense |
probably null |
|
|
R8767:Vmn2r5
|
UTSW |
3 |
64,507,682 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R8896:Vmn2r5
|
UTSW |
3 |
64,503,782 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8948:Vmn2r5
|
UTSW |
3 |
64,491,101 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8950:Vmn2r5
|
UTSW |
3 |
64,491,101 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8962:Vmn2r5
|
UTSW |
3 |
64,491,143 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9012:Vmn2r5
|
UTSW |
3 |
64,504,494 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9109:Vmn2r5
|
UTSW |
3 |
64,503,990 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R9126:Vmn2r5
|
UTSW |
3 |
64,491,738 (GRCm38) |
missense |
probably benign |
0.13 |
|
R9192:Vmn2r5
|
UTSW |
3 |
64,491,517 (GRCm38) |
nonsense |
probably null |
|
|
R9221:Vmn2r5
|
UTSW |
3 |
64,504,300 (GRCm38) |
nonsense |
probably null |
|
|
R9375:Vmn2r5
|
UTSW |
3 |
64,503,895 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9529:Vmn2r5
|
UTSW |
3 |
64,492,597 (GRCm38) |
missense |
probably benign |
0.06 |
|
Z1088:Vmn2r5
|
UTSW |
3 |
64,509,542 (GRCm38) |
missense |
probably benign |
0.02 |
|
Z1177:Vmn2r5
|
UTSW |
3 |
64,491,051 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGACTTATCCTAAGCTGGAGGGAC -3'
(R):5'- ACAACAGTGTGCCTTACAATGTGGAC -3'
Sequencing Primer
(F):5'- CCTAAGCTGGAGGGACTTACAAATC -3'
(R):5'- TGCCTTACAATGTGGACCACAG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation