Incidental Mutation 'R5321:Vmn1r20'
| ID |
406106 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r20
|
| Ensembl Gene |
ENSMUSG00000115253 |
| Gene Name |
vomeronasal 1 receptor 20 |
| Synonyms |
Gm5569 |
| MMRRC Submission |
042904-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.416)
|
| Stock # |
R5321 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
57408676-57409587 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 57409427 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 251
(S251L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000176085]
[ENSMUST00000226808]
[ENSMUST00000227909]
|
| AlphaFold |
K7N778 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176085
AA Change: S251L
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000134973
Gene: ENSMUSG00000093679
AA Change: S251L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
28 |
293 |
2.3e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226808
AA Change: S251L
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227909
AA Change: S251L
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
G |
11: 110,218,651 (GRCm39) |
F72L |
probably benign |
Het |
| Btrc |
G |
A |
19: 45,496,197 (GRCm39) |
V211M |
probably damaging |
Het |
| Col6a5 |
A |
T |
9: 105,805,664 (GRCm39) |
Y1081N |
unknown |
Het |
| Cryzl1 |
T |
C |
16: 91,504,118 (GRCm39) |
Y109C |
probably benign |
Het |
| Dlec1 |
T |
A |
9: 118,941,669 (GRCm39) |
S352T |
probably benign |
Het |
| Dzip3 |
T |
G |
16: 48,778,038 (GRCm39) |
T349P |
possibly damaging |
Het |
| Endou |
A |
G |
15: 97,618,913 (GRCm39) |
V37A |
probably damaging |
Het |
| Exosc1 |
A |
T |
19: 41,912,499 (GRCm39) |
C129* |
probably null |
Het |
| Flywch1 |
C |
G |
17: 23,975,625 (GRCm39) |
R539P |
probably damaging |
Het |
| Gm14410 |
G |
A |
2: 176,885,298 (GRCm39) |
T322I |
probably damaging |
Het |
| Lcor |
G |
T |
19: 41,573,643 (GRCm39) |
W799C |
probably damaging |
Het |
| Lpin2 |
G |
A |
17: 71,553,853 (GRCm39) |
V857M |
probably damaging |
Het |
| Or52ae9 |
T |
C |
7: 103,389,862 (GRCm39) |
N195S |
probably damaging |
Het |
| Patl1 |
A |
G |
19: 11,898,785 (GRCm39) |
Q160R |
probably damaging |
Het |
| Phtf1 |
C |
T |
3: 103,910,827 (GRCm39) |
T606I |
probably benign |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Scrt1 |
T |
C |
15: 76,403,370 (GRCm39) |
S207G |
unknown |
Het |
| Slc15a5 |
G |
T |
6: 137,964,436 (GRCm39) |
N496K |
probably benign |
Het |
| Slc34a1 |
A |
T |
13: 23,996,614 (GRCm39) |
I40F |
possibly damaging |
Het |
| Tdrd12 |
A |
C |
7: 35,177,519 (GRCm39) |
V945G |
probably damaging |
Het |
| Tdrkh |
C |
A |
3: 94,332,965 (GRCm39) |
L169I |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,865 (GRCm39) |
C35R |
probably damaging |
Het |
| Tpte |
A |
T |
8: 22,787,219 (GRCm39) |
R33* |
probably null |
Het |
| Trpv2 |
T |
A |
11: 62,475,397 (GRCm39) |
L270H |
probably damaging |
Het |
| Utp18 |
A |
G |
11: 93,757,260 (GRCm39) |
L468P |
probably damaging |
Het |
| Uxs1 |
A |
G |
1: 43,844,805 (GRCm39) |
I51T |
probably damaging |
Het |
| Vmn1r24 |
A |
T |
6: 57,933,182 (GRCm39) |
L112* |
probably null |
Het |
| Vmn1r5 |
T |
C |
6: 56,962,592 (GRCm39) |
L89P |
probably damaging |
Het |
| Vmn2r10 |
G |
T |
5: 109,143,505 (GRCm39) |
A815E |
probably damaging |
Het |
| Zfp119a |
A |
T |
17: 56,172,595 (GRCm39) |
L416H |
probably damaging |
Het |
|
| Other mutations in Vmn1r20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01761:Vmn1r20
|
APN |
6 |
57,408,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02622:Vmn1r20
|
APN |
6 |
57,409,583 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02636:Vmn1r20
|
APN |
6 |
57,408,746 (GRCm39) |
missense |
probably benign |
|
|
R0006:Vmn1r20
|
UTSW |
6 |
57,409,290 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0079:Vmn1r20
|
UTSW |
6 |
57,408,777 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0200:Vmn1r20
|
UTSW |
6 |
57,409,084 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1675:Vmn1r20
|
UTSW |
6 |
57,408,937 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1734:Vmn1r20
|
UTSW |
6 |
57,409,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1883:Vmn1r20
|
UTSW |
6 |
57,409,306 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2049:Vmn1r20
|
UTSW |
6 |
57,408,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2307:Vmn1r20
|
UTSW |
6 |
57,409,121 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2346:Vmn1r20
|
UTSW |
6 |
57,408,931 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4405:Vmn1r20
|
UTSW |
6 |
57,409,042 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4946:Vmn1r20
|
UTSW |
6 |
57,409,159 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5259:Vmn1r20
|
UTSW |
6 |
57,409,050 (GRCm39) |
nonsense |
probably null |
|
|
R5911:Vmn1r20
|
UTSW |
6 |
57,408,774 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6042:Vmn1r20
|
UTSW |
6 |
57,409,391 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6298:Vmn1r20
|
UTSW |
6 |
57,409,112 (GRCm39) |
missense |
probably benign |
|
|
R6314:Vmn1r20
|
UTSW |
6 |
57,409,042 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6331:Vmn1r20
|
UTSW |
6 |
57,408,655 (GRCm39) |
splice site |
probably null |
|
|
R6482:Vmn1r20
|
UTSW |
6 |
57,409,093 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9161:Vmn1r20
|
UTSW |
6 |
57,408,759 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9165:Vmn1r20
|
UTSW |
6 |
57,409,246 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTAACCACAAGTACATACATGG -3'
(R):5'- TTGGTGCTGAACAGAATGATTC -3'
Sequencing Primer
(F):5'- CCACAAGTACATACATGGTGATTATC -3'
(R):5'- ACGTATAGATACATGCTGGCAC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation