Incidental Mutation 'R0142:Vmn2r5'
| ID |
26560 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r5
|
| Ensembl Gene |
ENSMUSG00000068999 |
| Gene Name |
vomeronasal 2, receptor 5 |
| Synonyms |
EG667060 |
| MMRRC Submission |
038427-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
R0142 (G1)
|
| Quality Score |
31 |
|
Status
|
Validated
(trace)
|
| Chromosome |
3 |
| Chromosomal Location |
64398242-64417156 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 64400009 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 553
(C553S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135592
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170270]
[ENSMUST00000177184]
|
| AlphaFold |
K7N788 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170270
AA Change: C466S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131925
Gene: ENSMUSG00000068999
AA Change: C466S
| 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 damaging
Transcript: ENSMUST00000177184
AA Change: C553S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135592
Gene: ENSMUSG00000068999
AA Change: C553S
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 87.6%
|
| Validation Efficiency |
92% (61/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
G |
11: 110,079,467 (GRCm39) |
D1229A |
probably damaging |
Het |
| Abhd8 |
A |
C |
8: 71,914,506 (GRCm39) |
F41V |
probably damaging |
Het |
| Ago4 |
T |
G |
4: 126,410,725 (GRCm39) |
E222A |
probably benign |
Het |
| Ap3b2 |
T |
C |
7: 81,122,828 (GRCm39) |
I470V |
probably damaging |
Het |
| Bcl9l |
C |
T |
9: 44,418,409 (GRCm39) |
T749M |
probably benign |
Het |
| Bicc1 |
T |
C |
10: 70,761,200 (GRCm39) |
K937E |
probably damaging |
Het |
| Bmi1 |
G |
A |
2: 18,688,095 (GRCm39) |
|
probably null |
Het |
| Boc |
A |
C |
16: 44,310,604 (GRCm39) |
I772S |
probably damaging |
Het |
| Brd10 |
A |
G |
19: 29,695,654 (GRCm39) |
S1347P |
possibly damaging |
Het |
| C2 |
T |
A |
17: 35,092,504 (GRCm39) |
I178F |
possibly damaging |
Het |
| Cacna1c |
G |
T |
6: 118,580,843 (GRCm39) |
A1416E |
probably damaging |
Het |
| Chst10 |
A |
G |
1: 38,910,810 (GRCm39) |
L118P |
probably damaging |
Het |
| Crybg1 |
G |
A |
10: 43,875,059 (GRCm39) |
T683I |
possibly damaging |
Het |
| Cul5 |
C |
T |
9: 53,546,350 (GRCm39) |
V314I |
probably damaging |
Het |
| Dnajc17 |
C |
A |
2: 119,010,415 (GRCm39) |
R211I |
probably benign |
Het |
| Emilin1 |
A |
G |
5: 31,071,264 (GRCm39) |
T16A |
probably benign |
Het |
| Ercc6l2 |
A |
C |
13: 64,020,320 (GRCm39) |
|
probably benign |
Het |
| Fsd2 |
T |
A |
7: 81,209,683 (GRCm39) |
D53V |
probably damaging |
Het |
| Galnt13 |
A |
G |
2: 54,988,615 (GRCm39) |
D479G |
probably damaging |
Het |
| Grk3 |
A |
T |
5: 113,062,919 (GRCm39) |
W643R |
probably damaging |
Het |
| Hdgf |
G |
A |
3: 87,820,416 (GRCm39) |
A4T |
possibly damaging |
Het |
| Hnrnpr |
T |
A |
4: 136,054,593 (GRCm39) |
V182E |
probably damaging |
Het |
| Ipo13 |
A |
C |
4: 117,762,766 (GRCm39) |
L279R |
probably damaging |
Het |
| Itga9 |
C |
A |
9: 118,465,654 (GRCm39) |
N169K |
probably damaging |
Het |
| Jph3 |
A |
G |
8: 122,480,110 (GRCm39) |
T263A |
possibly damaging |
Het |
| Jph4 |
G |
T |
14: 55,345,783 (GRCm39) |
Q625K |
probably benign |
Het |
| Kctd3 |
A |
C |
1: 188,728,595 (GRCm39) |
|
probably null |
Het |
| Kif26b |
A |
T |
1: 178,742,954 (GRCm39) |
S570C |
probably damaging |
Het |
| Klhl5 |
G |
A |
5: 65,300,693 (GRCm39) |
W164* |
probably null |
Het |
| Lacc1 |
A |
T |
14: 77,268,239 (GRCm39) |
H357Q |
probably benign |
Het |
| Lama2 |
A |
G |
10: 27,063,841 (GRCm39) |
I1316T |
probably benign |
Het |
| Lcp2 |
C |
T |
11: 34,032,418 (GRCm39) |
P332L |
probably damaging |
Het |
| Map3k6 |
A |
T |
4: 132,978,257 (GRCm39) |
H1033L |
probably benign |
Het |
| Mfsd2b |
A |
G |
12: 4,916,234 (GRCm39) |
V252A |
probably benign |
Het |
| Myo16 |
T |
A |
8: 10,619,790 (GRCm39) |
I1447N |
probably benign |
Het |
| Myo19 |
G |
A |
11: 84,785,429 (GRCm39) |
R224H |
probably damaging |
Het |
| Myo5a |
C |
T |
9: 75,067,856 (GRCm39) |
H637Y |
probably benign |
Het |
| Nek10 |
C |
T |
14: 14,861,560 (GRCm38) |
R539C |
possibly damaging |
Het |
| Nfix |
A |
T |
8: 85,448,315 (GRCm39) |
V404E |
probably damaging |
Het |
| Nr1i2 |
T |
C |
16: 38,073,368 (GRCm39) |
R203G |
probably benign |
Het |
| Nup210l |
G |
A |
3: 90,079,420 (GRCm39) |
G968D |
probably damaging |
Het |
| Or10q1 |
A |
T |
19: 13,726,619 (GRCm39) |
I50F |
probably benign |
Het |
| Or2ag15 |
G |
T |
7: 106,340,972 (GRCm39) |
H56Q |
probably benign |
Het |
| Or8b37 |
A |
T |
9: 37,959,406 (GRCm39) |
H296L |
probably benign |
Het |
| Phlpp2 |
C |
T |
8: 110,634,145 (GRCm39) |
R242W |
probably damaging |
Het |
| Plcz1 |
A |
G |
6: 139,953,423 (GRCm39) |
F398S |
probably damaging |
Het |
| Ppfibp2 |
C |
A |
7: 107,343,384 (GRCm39) |
P808T |
probably damaging |
Het |
| Srpk2 |
T |
C |
5: 23,732,928 (GRCm39) |
K239E |
probably damaging |
Het |
| Svep1 |
A |
G |
4: 58,118,232 (GRCm39) |
V830A |
probably benign |
Het |
| Tesc |
A |
T |
5: 118,194,635 (GRCm39) |
I149F |
possibly damaging |
Het |
| Thsd7a |
A |
G |
6: 12,418,334 (GRCm39) |
W632R |
probably damaging |
Het |
| Tmprss9 |
A |
G |
10: 80,730,212 (GRCm39) |
D704G |
possibly damaging |
Het |
| Tob1 |
T |
C |
11: 94,105,423 (GRCm39) |
Y320H |
probably damaging |
Het |
| Trpm3 |
G |
T |
19: 22,965,280 (GRCm39) |
D1582Y |
probably damaging |
Het |
| Ttc28 |
A |
G |
5: 111,425,323 (GRCm39) |
K1716R |
probably benign |
Het |
| Uqcrfs1 |
A |
G |
13: 30,724,925 (GRCm39) |
V205A |
probably benign |
Het |
| Usp29 |
G |
A |
7: 6,965,334 (GRCm39) |
M392I |
probably benign |
Het |
| Uspl1 |
A |
T |
5: 149,125,159 (GRCm39) |
Y22F |
possibly damaging |
Het |
| Virma |
C |
A |
4: 11,548,783 (GRCm39) |
N1780K |
probably benign |
Het |
| Vmn1r56 |
C |
T |
7: 5,199,372 (GRCm39) |
A82T |
probably benign |
Het |
| Vwce |
A |
T |
19: 10,641,976 (GRCm39) |
R901W |
probably damaging |
Het |
| Wdpcp |
C |
A |
11: 21,807,444 (GRCm39) |
|
probably null |
Het |
| Zfp423 |
A |
T |
8: 88,506,968 (GRCm39) |
C1000* |
probably null |
Het |
| Zscan20 |
A |
G |
4: 128,479,630 (GRCm39) |
F954L |
probably benign |
Het |
|
| Other mutations in Vmn2r5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00742:Vmn2r5
|
APN |
3 |
64,398,834 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL01139:Vmn2r5
|
APN |
3 |
64,398,826 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL03293:Vmn2r5
|
APN |
3 |
64,398,747 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4581001:Vmn2r5
|
UTSW |
3 |
64,411,348 (GRCm39) |
nonsense |
probably null |
|
|
R0063:Vmn2r5
|
UTSW |
3 |
64,411,221 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0193:Vmn2r5
|
UTSW |
3 |
64,398,951 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0219:Vmn2r5
|
UTSW |
3 |
64,411,734 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0313:Vmn2r5
|
UTSW |
3 |
64,411,248 (GRCm39) |
missense |
probably benign |
|
|
R0620:Vmn2r5
|
UTSW |
3 |
64,411,235 (GRCm39) |
nonsense |
probably null |
|
|
R0726:Vmn2r5
|
UTSW |
3 |
64,411,186 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1073:Vmn2r5
|
UTSW |
3 |
64,398,726 (GRCm39) |
nonsense |
probably null |
|
|
R1549:Vmn2r5
|
UTSW |
3 |
64,411,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1581:Vmn2r5
|
UTSW |
3 |
64,398,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1624:Vmn2r5
|
UTSW |
3 |
64,417,116 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1973:Vmn2r5
|
UTSW |
3 |
64,411,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1974:Vmn2r5
|
UTSW |
3 |
64,411,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1975:Vmn2r5
|
UTSW |
3 |
64,411,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1977:Vmn2r5
|
UTSW |
3 |
64,411,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2189:Vmn2r5
|
UTSW |
3 |
64,417,014 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2484:Vmn2r5
|
UTSW |
3 |
64,411,392 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4573:Vmn2r5
|
UTSW |
3 |
64,411,339 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5243:Vmn2r5
|
UTSW |
3 |
64,411,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5384:Vmn2r5
|
UTSW |
3 |
64,416,931 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5385:Vmn2r5
|
UTSW |
3 |
64,416,931 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5587:Vmn2r5
|
UTSW |
3 |
64,411,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5588:Vmn2r5
|
UTSW |
3 |
64,411,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5589:Vmn2r5
|
UTSW |
3 |
64,411,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5590:Vmn2r5
|
UTSW |
3 |
64,411,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5739:Vmn2r5
|
UTSW |
3 |
64,411,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6113:Vmn2r5
|
UTSW |
3 |
64,398,820 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6739:Vmn2r5
|
UTSW |
3 |
64,398,637 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7106:Vmn2r5
|
UTSW |
3 |
64,399,104 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7304:Vmn2r5
|
UTSW |
3 |
64,411,671 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7402:Vmn2r5
|
UTSW |
3 |
64,403,176 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7477:Vmn2r5
|
UTSW |
3 |
64,399,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7571:Vmn2r5
|
UTSW |
3 |
64,411,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7678:Vmn2r5
|
UTSW |
3 |
64,416,943 (GRCm39) |
missense |
probably benign |
|
|
R7874:Vmn2r5
|
UTSW |
3 |
64,398,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8110:Vmn2r5
|
UTSW |
3 |
64,398,709 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8223:Vmn2r5
|
UTSW |
3 |
64,398,726 (GRCm39) |
nonsense |
probably null |
|
|
R8767:Vmn2r5
|
UTSW |
3 |
64,415,103 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8896:Vmn2r5
|
UTSW |
3 |
64,411,203 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8948:Vmn2r5
|
UTSW |
3 |
64,398,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8950:Vmn2r5
|
UTSW |
3 |
64,398,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8962:Vmn2r5
|
UTSW |
3 |
64,398,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9012:Vmn2r5
|
UTSW |
3 |
64,411,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9109:Vmn2r5
|
UTSW |
3 |
64,411,411 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9126:Vmn2r5
|
UTSW |
3 |
64,399,159 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9192:Vmn2r5
|
UTSW |
3 |
64,398,938 (GRCm39) |
nonsense |
probably null |
|
|
R9221:Vmn2r5
|
UTSW |
3 |
64,411,721 (GRCm39) |
nonsense |
probably null |
|
|
R9375:Vmn2r5
|
UTSW |
3 |
64,411,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9529:Vmn2r5
|
UTSW |
3 |
64,400,018 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1088:Vmn2r5
|
UTSW |
3 |
64,416,963 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Vmn2r5
|
UTSW |
3 |
64,398,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCAACTGAGCAGGCTCTCATAG -3'
(R):5'- TTAGAGTCACCACTGAAAAGCTGGATG -3'
Sequencing Primer
(F):5'- GGTGACTTTTCTCCAACTTCAATAGG -3'
(R):5'- tttctctgtgtagccctgcc -3'
|
| Posted On |
2013-04-17 |
Incidental Mutation