Incidental Mutation 'R5243:Vmn2r5'
| ID |
400969 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r5
|
| Ensembl Gene |
ENSMUSG00000068999 |
| Gene Name |
vomeronasal 2, receptor 5 |
| Synonyms |
EG667060 |
| MMRRC Submission |
042814-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
R5243 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
64490821-64509735 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 64504076 bp (GRCm38)
|
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
95% (62/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
A |
T |
12: 72,909,769 (GRCm38) |
|
probably null |
Het |
| Aatk |
A |
G |
11: 120,016,768 (GRCm38) |
L78P |
probably damaging |
Het |
| Acadsb |
T |
A |
7: 131,444,243 (GRCm38) |
I412K |
probably damaging |
Het |
| Acer3 |
T |
C |
7: 98,218,070 (GRCm38) |
R246G |
possibly damaging |
Het |
| Atp1a3 |
T |
A |
7: 24,994,569 (GRCm38) |
I387F |
probably damaging |
Het |
| Atp6v1b2 |
A |
T |
8: 69,103,739 (GRCm38) |
M300L |
probably benign |
Het |
| Aurkb |
T |
A |
11: 69,045,926 (GRCm38) |
|
probably benign |
Het |
| Card10 |
C |
A |
15: 78,780,672 (GRCm38) |
G694V |
possibly damaging |
Het |
| Ccdc171 |
A |
G |
4: 83,604,107 (GRCm38) |
N336S |
probably damaging |
Het |
| Copg2 |
T |
C |
6: 30,750,627 (GRCm38) |
T720A |
probably benign |
Het |
| Coro2a |
A |
T |
4: 46,545,620 (GRCm38) |
W272R |
probably damaging |
Het |
| Cpne6 |
T |
A |
14: 55,512,747 (GRCm38) |
C112S |
probably damaging |
Het |
| Ddx21 |
A |
G |
10: 62,602,213 (GRCm38) |
M1T |
probably null |
Het |
| Dohh |
A |
G |
10: 81,387,369 (GRCm38) |
R161G |
probably benign |
Het |
| Dsc1 |
A |
C |
18: 20,099,159 (GRCm38) |
V264G |
probably damaging |
Het |
| E4f1 |
A |
T |
17: 24,447,318 (GRCm38) |
C198S |
probably damaging |
Het |
| Evpl |
T |
A |
11: 116,222,969 (GRCm38) |
E1298D |
probably damaging |
Het |
| Grid2ip |
A |
T |
5: 143,377,505 (GRCm38) |
I246F |
probably damaging |
Het |
| H2-M1 |
A |
G |
17: 36,671,301 (GRCm38) |
F136S |
possibly damaging |
Het |
| Hck |
T |
C |
2: 153,144,492 (GRCm38) |
V387A |
probably damaging |
Het |
| Hdac1 |
G |
A |
4: 129,516,853 (GRCm38) |
|
probably benign |
Het |
| Hydin |
A |
C |
8: 110,505,748 (GRCm38) |
Q1633P |
possibly damaging |
Het |
| Igkv12-41 |
A |
G |
6: 69,858,702 (GRCm38) |
I22T |
probably damaging |
Het |
| Ints3 |
CA |
CAA |
3: 90,401,144 (GRCm38) |
|
probably null |
Het |
| Itpr2 |
C |
G |
6: 146,187,546 (GRCm38) |
W2188C |
probably damaging |
Het |
| Kcnt1 |
A |
G |
2: 25,908,074 (GRCm38) |
E899G |
probably damaging |
Het |
| Lgals8 |
C |
A |
13: 12,454,764 (GRCm38) |
V12L |
probably benign |
Het |
| Lgr6 |
T |
C |
1: 135,109,272 (GRCm38) |
|
probably benign |
Het |
| Lrrc8b |
T |
G |
5: 105,480,946 (GRCm38) |
I386S |
probably damaging |
Het |
| Mks1 |
T |
C |
11: 87,856,678 (GRCm38) |
|
probably benign |
Het |
| Mon1b |
A |
G |
8: 113,637,921 (GRCm38) |
D110G |
possibly damaging |
Het |
| Mpdz |
G |
T |
4: 81,306,879 (GRCm38) |
A1437E |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,270,328 (GRCm38) |
N1753K |
probably damaging |
Het |
| Nceh1 |
T |
C |
3: 27,241,688 (GRCm38) |
V366A |
probably damaging |
Het |
| Ncor1 |
A |
T |
11: 62,338,962 (GRCm38) |
D893E |
probably damaging |
Het |
| Npc1 |
T |
A |
18: 12,198,631 (GRCm38) |
|
probably benign |
Het |
| Olfr1505 |
A |
G |
19: 13,919,661 (GRCm38) |
I214V |
probably damaging |
Het |
| Olfr344 |
T |
C |
2: 36,568,643 (GRCm38) |
L15P |
probably damaging |
Het |
| Podxl2 |
T |
C |
6: 88,849,374 (GRCm38) |
T317A |
probably benign |
Het |
| Prl8a9 |
T |
G |
13: 27,562,463 (GRCm38) |
Q54P |
probably damaging |
Het |
| Prpf31 |
C |
T |
7: 3,638,754 (GRCm38) |
R351* |
probably null |
Het |
| Pspc1 |
C |
T |
14: 56,764,191 (GRCm38) |
G242D |
probably damaging |
Het |
| Rbmxl2 |
G |
C |
7: 107,209,837 (GRCm38) |
G110R |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 52,111,824 (GRCm38) |
H1763Q |
possibly damaging |
Het |
| Rpusd3 |
T |
C |
6: 113,418,064 (GRCm38) |
T85A |
probably benign |
Het |
| Rttn |
A |
G |
18: 89,108,063 (GRCm38) |
I1853M |
possibly damaging |
Het |
| Sacs |
T |
A |
14: 61,205,957 (GRCm38) |
C1817* |
probably null |
Het |
| Scrib |
A |
T |
15: 76,065,252 (GRCm38) |
V335E |
probably benign |
Het |
| Sdk2 |
A |
G |
11: 113,825,086 (GRCm38) |
L1549P |
possibly damaging |
Het |
| Slc25a11 |
C |
T |
11: 70,646,098 (GRCm38) |
G44S |
probably damaging |
Het |
| Slc6a3 |
A |
G |
13: 73,571,451 (GRCm38) |
Y533C |
possibly damaging |
Het |
| Slc7a5 |
A |
G |
8: 121,896,535 (GRCm38) |
V191A |
probably damaging |
Het |
| Son |
A |
G |
16: 91,654,733 (GRCm38) |
K123E |
probably damaging |
Het |
| Tcstv3 |
T |
A |
13: 120,317,589 (GRCm38) |
M8K |
probably benign |
Het |
| Tie1 |
A |
G |
4: 118,482,351 (GRCm38) |
V411A |
probably damaging |
Het |
| Upk3bl |
C |
A |
5: 136,060,123 (GRCm38) |
D1E |
possibly damaging |
Het |
| Vmn2r75 |
T |
C |
7: 86,164,239 (GRCm38) |
N452D |
probably damaging |
Het |
| Wnk2 |
T |
A |
13: 49,072,578 (GRCm38) |
N1043I |
possibly damaging |
Het |
| Zfp407 |
A |
T |
18: 84,561,091 (GRCm38) |
H632Q |
probably damaging |
Het |
| Zfp423 |
T |
C |
8: 87,773,647 (GRCm38) |
K1174R |
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 |
|
R0313:Vmn2r5
|
UTSW |
3 |
64,503,827 (GRCm38) |
missense |
probably benign |
|
|
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 |
|
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'- AGATACACAGCTTGTCTGACATTG -3'
(R):5'- TAACTCACAGGACATGGATAGCC -3'
Sequencing Primer
(F):5'- CTTAGCTGAGATGTATCCAGATAGG -3'
(R):5'- GCTCTCATTGCAAAGCCT -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation