Incidental Mutation 'R2189:Vmn2r5'
| ID |
237958 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r5
|
| Ensembl Gene |
ENSMUSG00000068999 |
| Gene Name |
vomeronasal 2, receptor 5 |
| Synonyms |
EG667060 |
| MMRRC Submission |
040191-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R2189 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
64398242-64417156 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 64417014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 48
(M48R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135592
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170270]
[ENSMUST00000177184]
|
| AlphaFold |
K7N788 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170270
|
| SMART Domains |
Protein: ENSMUSP00000131925
Gene: ENSMUSG00000068999
| 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: M48R
PolyPhen 2
Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000135592
Gene: ENSMUSG00000068999
AA Change: M48R
| 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: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
G |
C |
7: 78,747,839 (GRCm39) |
G870A |
probably damaging |
Het |
| Adamtsl2 |
T |
C |
2: 26,971,750 (GRCm39) |
W12R |
probably benign |
Het |
| Bsph1 |
G |
A |
7: 13,204,254 (GRCm39) |
|
probably null |
Het |
| Celsr1 |
G |
T |
15: 85,863,431 (GRCm39) |
H1200Q |
possibly damaging |
Het |
| Clptm1 |
A |
T |
7: 19,371,070 (GRCm39) |
Y355* |
probably null |
Het |
| Cry2 |
T |
C |
2: 92,242,037 (GRCm39) |
E572G |
possibly damaging |
Het |
| Dlk1 |
G |
A |
12: 109,420,975 (GRCm39) |
|
probably null |
Het |
| Eral1 |
A |
G |
11: 77,966,657 (GRCm39) |
V201A |
probably benign |
Het |
| Esrp1 |
A |
T |
4: 11,357,603 (GRCm39) |
M503K |
probably benign |
Het |
| Fam83e |
G |
T |
7: 45,371,607 (GRCm39) |
M1I |
probably null |
Het |
| Flt4 |
G |
A |
11: 49,526,525 (GRCm39) |
A835T |
probably benign |
Het |
| H2bc15 |
A |
G |
13: 21,938,447 (GRCm39) |
D52G |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,903,244 (GRCm39) |
S562G |
probably null |
Het |
| Icosl |
A |
G |
10: 77,909,759 (GRCm39) |
T235A |
possibly damaging |
Het |
| Itga6 |
A |
G |
2: 71,655,961 (GRCm39) |
D295G |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lipa |
A |
T |
19: 34,502,199 (GRCm39) |
L15Q |
probably benign |
Het |
| Mcc |
T |
C |
18: 44,667,297 (GRCm39) |
E218G |
possibly damaging |
Het |
| Mdga2 |
A |
G |
12: 66,519,970 (GRCm39) |
|
probably null |
Het |
| Mmadhc |
A |
C |
2: 50,178,958 (GRCm39) |
C153W |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,112,430 (GRCm39) |
D1799G |
probably damaging |
Het |
| Nlrp1b |
T |
A |
11: 71,060,621 (GRCm39) |
Q729L |
probably damaging |
Het |
| Ofcc1 |
T |
A |
13: 40,333,924 (GRCm39) |
Q389L |
probably benign |
Het |
| Or52b2 |
A |
G |
7: 104,986,809 (GRCm39) |
V38A |
probably benign |
Het |
| Or5m5 |
A |
G |
2: 85,814,412 (GRCm39) |
D76G |
probably damaging |
Het |
| Or5p4 |
A |
T |
7: 107,680,243 (GRCm39) |
M81L |
possibly damaging |
Het |
| Or5p50 |
T |
C |
7: 107,421,822 (GRCm39) |
I285V |
probably benign |
Het |
| Pml |
T |
C |
9: 58,142,157 (GRCm39) |
N225S |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,321,187 (GRCm39) |
E1215G |
probably benign |
Het |
| Scap |
T |
A |
9: 110,206,761 (GRCm39) |
I402N |
probably damaging |
Het |
| Sgsm2 |
A |
G |
11: 74,743,908 (GRCm39) |
L886P |
probably damaging |
Het |
| Sugct |
T |
C |
13: 17,836,851 (GRCm39) |
I104V |
probably benign |
Het |
| Tmem200c |
A |
G |
17: 69,147,681 (GRCm39) |
Q88R |
probably damaging |
Het |
| Tnfrsf1a |
T |
A |
6: 125,334,768 (GRCm39) |
L14Q |
probably benign |
Het |
| Tnk2 |
C |
T |
16: 32,490,239 (GRCm39) |
L381F |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 47,254,290 (GRCm39) |
V1454I |
probably benign |
Het |
| V1ra8 |
A |
C |
6: 90,179,944 (GRCm39) |
D49A |
probably damaging |
Het |
| Yars1 |
A |
G |
4: 129,099,982 (GRCm39) |
I227V |
probably damaging |
Het |
| Zfp850 |
C |
A |
7: 27,688,480 (GRCm39) |
R576L |
probably benign |
Het |
| Zfpm2 |
T |
A |
15: 40,964,579 (GRCm39) |
F223I |
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 |
|
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 |
|
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'- TGGAATACAGGTCCCATGATAACC -3'
(R):5'- CACTTCTACACTCCATCAAGGTG -3'
Sequencing Primer
(F):5'- ATGATAACCAGTCCTTTCAGGC -3'
(R):5'- AGGTGCTTCCTTCAAACCTGTG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation