Incidental Mutation 'PIT4581001:Vmn2r5'
| ID |
556489 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r5
|
| Ensembl Gene |
ENSMUSG00000068999 |
| Gene Name |
vomeronasal 2, receptor 5 |
| Synonyms |
EG667060 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
PIT4581001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
64398242-64417156 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 64411348 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 407
(K407*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135592
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170270]
[ENSMUST00000177184]
|
| AlphaFold |
K7N788 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000170270
AA Change: K320*
|
| SMART Domains |
Protein: ENSMUSP00000131925
Gene: ENSMUSG00000068999
AA Change: K320*
| 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 null
Transcript: ENSMUST00000177184
AA Change: K407*
|
| SMART Domains |
Protein: ENSMUSP00000135592
Gene: ENSMUSG00000068999
AA Change: K407*
| 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 |
- 1x: 92.9%
- 3x: 90.6%
- 10x: 84.5%
- 20x: 71.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam15 |
T |
C |
3: 89,251,139 (GRCm39) |
H522R |
probably benign |
Het |
| Adcy8 |
A |
T |
15: 64,626,666 (GRCm39) |
I724N |
probably damaging |
Het |
| Cdk2ap1rt |
A |
G |
11: 48,716,971 (GRCm39) |
I69T |
possibly damaging |
Het |
| Cstdc6 |
T |
C |
16: 36,143,294 (GRCm39) |
I52V |
probably benign |
Het |
| Ctsj |
A |
T |
13: 61,150,370 (GRCm39) |
C210S |
probably damaging |
Het |
| Cyp2d12 |
A |
G |
15: 82,442,652 (GRCm39) |
E365G |
probably damaging |
Het |
| Dbi |
A |
T |
1: 120,047,642 (GRCm39) |
V85E |
probably damaging |
Het |
| Dhrs7b |
A |
G |
11: 60,742,723 (GRCm39) |
I153M |
possibly damaging |
Het |
| Dock10 |
C |
A |
1: 80,483,163 (GRCm39) |
C2096F |
probably damaging |
Het |
| Eid3 |
T |
A |
10: 82,703,589 (GRCm39) |
I350K |
probably damaging |
Het |
| Fam83b |
A |
T |
9: 76,398,434 (GRCm39) |
F890I |
probably damaging |
Het |
| Fras1 |
G |
A |
5: 96,703,160 (GRCm39) |
D308N |
probably benign |
Het |
| Ftsj3 |
T |
C |
11: 106,140,302 (GRCm39) |
D822G |
unknown |
Het |
| Gabra5 |
T |
C |
7: 57,138,605 (GRCm39) |
T148A |
probably damaging |
Het |
| Gad1 |
A |
G |
2: 70,430,011 (GRCm39) |
D526G |
probably benign |
Het |
| Gm21698 |
T |
A |
5: 26,192,350 (GRCm39) |
T79S |
probably benign |
Het |
| Gon4l |
T |
G |
3: 88,802,821 (GRCm39) |
V1144G |
probably damaging |
Het |
| Ighv1-24 |
A |
T |
12: 114,736,803 (GRCm39) |
N32K |
probably benign |
Het |
| Islr |
T |
C |
9: 58,064,484 (GRCm39) |
N341S |
possibly damaging |
Het |
| Mybph |
A |
G |
1: 134,122,479 (GRCm39) |
T175A |
probably benign |
Het |
| Mycn |
T |
C |
12: 12,990,244 (GRCm39) |
K51E |
possibly damaging |
Het |
| Myh14 |
T |
C |
7: 44,262,906 (GRCm39) |
N1763D |
probably benign |
Het |
| Myrip |
T |
C |
9: 120,296,583 (GRCm39) |
S831P |
probably damaging |
Het |
| Neb |
G |
T |
2: 52,178,814 (GRCm39) |
A1314E |
probably damaging |
Het |
| Notch2 |
T |
C |
3: 98,011,778 (GRCm39) |
Y599H |
probably damaging |
Het |
| Npr1 |
C |
A |
3: 90,369,564 (GRCm39) |
G387V |
probably damaging |
Het |
| Or6e1 |
T |
A |
14: 54,519,995 (GRCm39) |
D119V |
probably damaging |
Het |
| Orai2 |
G |
A |
5: 136,179,364 (GRCm39) |
T223M |
probably damaging |
Het |
| Pcdhga5 |
A |
G |
18: 37,829,910 (GRCm39) |
E786G |
probably benign |
Het |
| Pde6b |
A |
G |
5: 108,576,374 (GRCm39) |
T749A |
probably benign |
Het |
| Pdzrn3 |
A |
G |
6: 101,128,464 (GRCm39) |
V734A |
probably benign |
Het |
| Pkd1l1 |
GCC |
GCCC |
11: 8,866,298 (GRCm39) |
|
probably null |
Het |
| Recql5 |
C |
A |
11: 115,823,682 (GRCm39) |
K21N |
possibly damaging |
Het |
| Rimbp3 |
G |
A |
16: 17,028,580 (GRCm39) |
S668N |
possibly damaging |
Het |
| Sdr42e1 |
A |
T |
8: 118,390,257 (GRCm39) |
I128N |
probably damaging |
Het |
| Shprh |
TAAAA |
T |
10: 11,068,238 (GRCm39) |
|
probably null |
Het |
| Slc15a2 |
A |
T |
16: 36,592,405 (GRCm39) |
C251S |
probably benign |
Het |
| Slc17a4 |
A |
T |
13: 24,086,001 (GRCm39) |
S329T |
probably damaging |
Het |
| Slc35a1 |
A |
G |
4: 34,669,501 (GRCm39) |
V246A |
possibly damaging |
Het |
| Slc37a2 |
A |
T |
9: 37,148,701 (GRCm39) |
S260R |
probably benign |
Het |
| Slco6d1 |
A |
T |
1: 98,351,050 (GRCm39) |
I177L |
possibly damaging |
Het |
| Tmcc1 |
A |
G |
6: 116,020,417 (GRCm39) |
V345A |
|
Het |
| Tmod2 |
T |
C |
9: 75,504,583 (GRCm39) |
Y12C |
probably damaging |
Het |
| Top2a |
A |
T |
11: 98,893,790 (GRCm39) |
W1035R |
probably damaging |
Het |
| Trpc1 |
A |
G |
9: 95,618,974 (GRCm39) |
S126P |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,564,305 (GRCm39) |
S28576P |
probably damaging |
Het |
| Vmn1r16 |
A |
T |
6: 57,299,858 (GRCm39) |
W255R |
probably benign |
Het |
| Vps13b |
G |
T |
15: 35,534,409 (GRCm39) |
W908C |
probably damaging |
Het |
| Ykt6 |
A |
G |
11: 5,912,747 (GRCm39) |
K150E |
possibly damaging |
Het |
| Zbtb2 |
A |
G |
10: 4,319,265 (GRCm39) |
Y254H |
possibly damaging |
Het |
| Zfp217 |
A |
G |
2: 169,956,503 (GRCm39) |
S832P |
probably benign |
Het |
| Zfp595 |
A |
G |
13: 67,465,949 (GRCm39) |
S108P |
probably benign |
Het |
| Zfp786 |
A |
T |
6: 47,796,756 (GRCm39) |
F727L |
probably damaging |
Het |
| Zzef1 |
G |
A |
11: 72,790,498 (GRCm39) |
V2151I |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGCTCAAAGTCAGGTATATGTG -3'
(R):5'- TTGGATTTGCAATACCGAGAAGTG -3'
Sequencing Primer
(F):5'- AGTCAGGTATATGTGAACATGCTG -3'
(R):5'- CCTTTATGATGTACACCCTAGCAAGG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation