Incidental Mutation 'R5588:Vmn2r5'
ID |
458034 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r5
|
Ensembl Gene |
ENSMUSG00000068999 |
Gene Name |
vomeronasal 2, receptor 5 |
Synonyms |
EG667060 |
MMRRC Submission |
043268-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.120)
|
Stock # |
R5588 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
64398242-64417156 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 64411497 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 357
(D357G)
|
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: D270G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000131925 Gene: ENSMUSG00000068999 AA Change: D270G
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: D357G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000135592 Gene: ENSMUSG00000068999 AA Change: D357G
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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
C |
A |
15: 81,949,417 (GRCm39) |
Q1105K |
possibly damaging |
Het |
Afg3l2 |
A |
T |
18: 67,573,277 (GRCm39) |
V175D |
possibly damaging |
Het |
Aldh1a2 |
G |
A |
9: 71,190,732 (GRCm39) |
R325H |
probably damaging |
Het |
Arhgef18 |
T |
A |
8: 3,438,878 (GRCm39) |
|
probably benign |
Het |
Atp8a1 |
A |
G |
5: 67,972,027 (GRCm39) |
L43P |
probably damaging |
Het |
Bdh1 |
T |
C |
16: 31,256,937 (GRCm39) |
|
probably null |
Het |
Ccdc85c |
T |
C |
12: 108,177,793 (GRCm39) |
Y320C |
probably damaging |
Het |
Cobl |
A |
T |
11: 12,293,886 (GRCm39) |
L290* |
probably null |
Het |
Cyp2c66 |
A |
G |
19: 39,151,858 (GRCm39) |
D191G |
possibly damaging |
Het |
Dhx34 |
T |
C |
7: 15,932,825 (GRCm39) |
H1038R |
probably damaging |
Het |
Eea1 |
T |
C |
10: 95,859,772 (GRCm39) |
V686A |
probably benign |
Het |
Eif2b4 |
A |
T |
5: 31,349,517 (GRCm39) |
C101* |
probably null |
Het |
Eif4a3 |
A |
C |
11: 119,186,952 (GRCm39) |
S84A |
probably benign |
Het |
Elfn2 |
T |
C |
15: 78,558,076 (GRCm39) |
D157G |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,173,103 (GRCm39) |
I2537F |
probably damaging |
Het |
Fbxo38 |
A |
G |
18: 62,659,248 (GRCm39) |
F350L |
probably damaging |
Het |
Fgd3 |
A |
T |
13: 49,440,786 (GRCm39) |
L215Q |
probably damaging |
Het |
Fhdc1 |
A |
G |
3: 84,372,783 (GRCm39) |
V73A |
possibly damaging |
Het |
Gapvd1 |
T |
A |
2: 34,599,166 (GRCm39) |
T690S |
probably damaging |
Het |
Gask1a |
C |
T |
9: 121,794,247 (GRCm39) |
Q134* |
probably null |
Het |
Gm14418 |
A |
T |
2: 177,079,065 (GRCm39) |
I310K |
probably benign |
Het |
Gm5141 |
A |
T |
13: 62,921,584 (GRCm39) |
N528K |
probably benign |
Het |
Gsap |
A |
C |
5: 21,456,147 (GRCm39) |
E417A |
probably damaging |
Het |
Kcnab1 |
A |
C |
3: 65,283,976 (GRCm39) |
D398A |
possibly damaging |
Het |
Kif5b |
T |
G |
18: 6,225,787 (GRCm39) |
N160T |
probably benign |
Het |
Lilrb4b |
G |
A |
10: 51,357,422 (GRCm39) |
R86Q |
probably benign |
Het |
Lmo7 |
T |
C |
14: 102,134,026 (GRCm39) |
|
probably null |
Het |
Mlph |
T |
C |
1: 90,859,321 (GRCm39) |
S219P |
possibly damaging |
Het |
Ncapg2 |
T |
C |
12: 116,376,697 (GRCm39) |
I95T |
possibly damaging |
Het |
Nedd9 |
A |
T |
13: 41,469,437 (GRCm39) |
I572N |
possibly damaging |
Het |
Nup155 |
G |
A |
15: 8,148,737 (GRCm39) |
|
probably null |
Het |
Olfml2a |
T |
C |
2: 38,850,047 (GRCm39) |
S588P |
probably damaging |
Het |
Or4a68 |
T |
C |
2: 89,269,760 (GRCm39) |
R288G |
probably damaging |
Het |
Or4c12 |
T |
A |
2: 89,774,136 (GRCm39) |
T108S |
probably benign |
Het |
Or6c1 |
T |
G |
10: 129,517,705 (GRCm39) |
N301T |
possibly damaging |
Het |
Parva |
C |
A |
7: 112,159,269 (GRCm39) |
N142K |
possibly damaging |
Het |
Pclo |
T |
A |
5: 14,838,412 (GRCm39) |
S4678R |
unknown |
Het |
Pcnt |
T |
C |
10: 76,278,445 (GRCm39) |
D3G |
possibly damaging |
Het |
Pdzd2 |
A |
C |
15: 12,374,367 (GRCm39) |
S1923A |
possibly damaging |
Het |
Per1 |
G |
A |
11: 68,998,453 (GRCm39) |
G1055D |
probably damaging |
Het |
Phf8-ps |
G |
A |
17: 33,285,249 (GRCm39) |
Q518* |
probably null |
Het |
Plb1 |
G |
A |
5: 32,487,293 (GRCm39) |
|
probably null |
Het |
Ppp1r14a |
C |
T |
7: 28,992,709 (GRCm39) |
P137L |
probably damaging |
Het |
Rfx2 |
A |
T |
17: 57,086,890 (GRCm39) |
S612T |
possibly damaging |
Het |
Rtel1 |
T |
C |
2: 180,993,893 (GRCm39) |
F642L |
probably benign |
Het |
Sec14l3 |
T |
C |
11: 4,016,138 (GRCm39) |
F19S |
probably damaging |
Het |
Skint8 |
A |
T |
4: 111,794,089 (GRCm39) |
M160L |
probably benign |
Het |
Slc19a3 |
G |
T |
1: 83,000,776 (GRCm39) |
Y80* |
probably null |
Het |
Slc37a1 |
T |
A |
17: 31,565,431 (GRCm39) |
W489R |
probably damaging |
Het |
Smc4 |
A |
G |
3: 68,933,190 (GRCm39) |
I604V |
probably benign |
Het |
Srprb |
G |
T |
9: 103,076,048 (GRCm39) |
Y796* |
probably null |
Het |
Tdrd7 |
T |
A |
4: 45,992,225 (GRCm39) |
S220T |
probably benign |
Het |
Tex15 |
T |
C |
8: 34,067,215 (GRCm39) |
F2215S |
probably damaging |
Het |
Ticrr |
C |
T |
7: 79,328,853 (GRCm39) |
A664V |
probably damaging |
Het |
Tnc |
T |
G |
4: 63,924,659 (GRCm39) |
D1013A |
possibly damaging |
Het |
Tpte |
T |
A |
8: 22,774,983 (GRCm39) |
Y18N |
possibly damaging |
Het |
Ubqlnl |
T |
A |
7: 103,798,339 (GRCm39) |
Q386L |
probably damaging |
Het |
Vmn1r194 |
T |
C |
13: 22,428,512 (GRCm39) |
V43A |
possibly damaging |
Het |
Vmn2r130 |
A |
T |
17: 23,282,803 (GRCm39) |
Q161L |
probably benign |
Het |
Zfhx4 |
T |
G |
3: 5,468,198 (GRCm39) |
D2785E |
probably damaging |
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 |
R0142:Vmn2r5
|
UTSW |
3 |
64,400,009 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Posted On |
2017-02-16 |