Incidental Mutation 'IGL01139:Vmn2r5'
ID |
50789 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Vmn2r5
|
Ensembl Gene |
ENSMUSG00000068999 |
Gene Name |
vomeronasal 2, receptor 5 |
Synonyms |
EG667060 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.120)
|
Stock # |
IGL01139
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
64398242-64417156 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 64398826 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 718
(S718P)
|
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: S631P
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000131925 Gene: ENSMUSG00000068999 AA Change: S631P
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: S718P
PolyPhen 2
Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000135592 Gene: ENSMUSG00000068999 AA Change: S718P
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm5 |
A |
T |
4: 144,504,259 (GRCm39) |
Y297* |
probably null |
Het |
Actr3 |
A |
T |
1: 125,333,622 (GRCm39) |
I215N |
probably damaging |
Het |
Ambn |
C |
T |
5: 88,612,376 (GRCm39) |
|
probably benign |
Het |
Arhgef1 |
T |
A |
7: 24,625,376 (GRCm39) |
|
probably benign |
Het |
Arid1a |
A |
C |
4: 133,421,308 (GRCm39) |
S832R |
unknown |
Het |
Clca4a |
A |
T |
3: 144,672,030 (GRCm39) |
I304N |
probably damaging |
Het |
Dmxl2 |
G |
A |
9: 54,366,248 (GRCm39) |
P274S |
probably damaging |
Het |
Eif4enif1 |
T |
A |
11: 3,171,143 (GRCm39) |
D211E |
probably damaging |
Het |
Eri2 |
A |
G |
7: 119,385,960 (GRCm39) |
|
probably null |
Het |
Fhod3 |
C |
T |
18: 25,199,401 (GRCm39) |
P691S |
probably benign |
Het |
Flnb |
A |
G |
14: 7,945,989 (GRCm38) |
S2465G |
probably damaging |
Het |
Ftsj1 |
G |
A |
X: 8,112,831 (GRCm39) |
R171C |
probably damaging |
Het |
Glb1l3 |
G |
A |
9: 26,729,523 (GRCm39) |
T648I |
probably benign |
Het |
Gm4222 |
T |
A |
2: 89,978,889 (GRCm39) |
|
probably benign |
Het |
Gm5475 |
G |
A |
15: 100,322,096 (GRCm39) |
|
probably benign |
Het |
Jaml |
C |
A |
9: 45,012,317 (GRCm39) |
T268N |
possibly damaging |
Het |
Kank3 |
G |
A |
17: 34,036,375 (GRCm39) |
G81E |
probably damaging |
Het |
Lrba |
A |
G |
3: 86,549,969 (GRCm39) |
T217A |
possibly damaging |
Het |
Ltn1 |
A |
G |
16: 87,212,897 (GRCm39) |
S555P |
probably benign |
Het |
Map3k15 |
T |
A |
X: 158,855,875 (GRCm39) |
M350K |
probably damaging |
Het |
Mipol1 |
C |
A |
12: 57,352,821 (GRCm39) |
Y53* |
probably null |
Het |
Mn1 |
A |
G |
5: 111,569,315 (GRCm39) |
D1095G |
probably damaging |
Het |
Myh14 |
T |
C |
7: 44,255,716 (GRCm39) |
|
probably benign |
Het |
Nrn1 |
A |
G |
13: 36,914,190 (GRCm39) |
C31R |
probably damaging |
Het |
Nup210 |
A |
T |
6: 91,007,079 (GRCm39) |
L579H |
possibly damaging |
Het |
Nxf2 |
T |
C |
X: 133,851,145 (GRCm39) |
I578V |
probably benign |
Het |
Obscn |
G |
A |
11: 58,969,178 (GRCm39) |
A172V |
probably damaging |
Het |
Or10h1b |
T |
A |
17: 33,395,756 (GRCm39) |
Y123N |
probably damaging |
Het |
Or9g4 |
T |
G |
2: 85,504,841 (GRCm39) |
Y218S |
probably damaging |
Het |
Phtf1 |
A |
G |
3: 103,912,918 (GRCm39) |
D748G |
probably damaging |
Het |
Psd3 |
A |
T |
8: 68,361,187 (GRCm39) |
Y863N |
probably damaging |
Het |
Psmc6 |
C |
T |
14: 45,581,167 (GRCm39) |
T321I |
probably benign |
Het |
Rassf6 |
T |
C |
5: 90,756,825 (GRCm39) |
*31W |
probably null |
Het |
Rictor |
A |
C |
15: 6,807,749 (GRCm39) |
K791Q |
probably damaging |
Het |
Slc12a9 |
C |
T |
5: 137,321,104 (GRCm39) |
M470I |
probably damaging |
Het |
Tex28 |
A |
T |
X: 73,194,830 (GRCm39) |
M367K |
possibly damaging |
Het |
Thnsl2 |
A |
T |
6: 71,115,718 (GRCm39) |
V163D |
probably damaging |
Het |
Tmco3 |
G |
A |
8: 13,369,887 (GRCm39) |
R633Q |
possibly damaging |
Het |
Trf |
A |
T |
9: 103,100,803 (GRCm39) |
V224D |
probably damaging |
Het |
Ttc8 |
C |
T |
12: 98,930,804 (GRCm39) |
Q273* |
probably null |
Het |
Usp9x |
A |
G |
X: 12,970,815 (GRCm39) |
|
probably benign |
Het |
Vmn2r117 |
A |
G |
17: 23,696,778 (GRCm39) |
W210R |
probably damaging |
Het |
Vps13a |
T |
C |
19: 16,617,989 (GRCm39) |
D2932G |
probably damaging |
Het |
Whamm |
T |
C |
7: 81,245,662 (GRCm39) |
L706P |
probably damaging |
Het |
Yeats2 |
G |
A |
16: 20,033,143 (GRCm39) |
V45I |
probably damaging |
Het |
Yipf3 |
G |
A |
17: 46,561,383 (GRCm39) |
|
probably null |
Het |
Zeb1 |
T |
C |
18: 5,705,061 (GRCm39) |
V26A |
possibly 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 |
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 |
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 |
|
Posted On |
2013-06-21 |