Incidental Mutation 'R2287:Trpv6'
ID |
244151 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trpv6
|
Ensembl Gene |
ENSMUSG00000029868 |
Gene Name |
transient receptor potential cation channel, subfamily V, member 6 |
Synonyms |
Ecac2, CaT1, CAT, Cac |
MMRRC Submission |
040286-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.136)
|
Stock # |
R2287 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
41597558-41613339 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 41603045 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Histidine
at position 276
(N276H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143854
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031902]
[ENSMUST00000201471]
|
AlphaFold |
Q91WD2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031902
AA Change: N276H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031902 Gene: ENSMUSG00000029868 AA Change: N276H
Domain | Start | End | E-Value | Type |
ANK
|
44 |
74 |
2.39e2 |
SMART |
ANK
|
78 |
107 |
6.17e-1 |
SMART |
ANK
|
116 |
145 |
3.06e-5 |
SMART |
ANK
|
162 |
191 |
1.85e-4 |
SMART |
Blast:ANK
|
195 |
223 |
3e-10 |
BLAST |
ANK
|
238 |
267 |
2.47e2 |
SMART |
Pfam:Ion_trans
|
327 |
589 |
9.8e-18 |
PFAM |
low complexity region
|
680 |
695 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194405
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000201471
AA Change: N276H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143854 Gene: ENSMUSG00000029868 AA Change: N276H
Domain | Start | End | E-Value | Type |
ANK
|
44 |
74 |
2.39e2 |
SMART |
ANK
|
78 |
107 |
6.17e-1 |
SMART |
ANK
|
116 |
145 |
3.06e-5 |
SMART |
ANK
|
162 |
191 |
1.85e-4 |
SMART |
Blast:ANK
|
195 |
223 |
3e-10 |
BLAST |
ANK
|
238 |
267 |
2.47e2 |
SMART |
Pfam:Ion_trans
|
327 |
589 |
9.8e-18 |
PFAM |
low complexity region
|
680 |
695 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of multipass membrane proteins that functions as calcium channels. The encoded protein contains N-terminal ankyrin repeats, which are required for channel assembly and regulation. Translation initiation for this protein occurs at a non-AUG start codon that is decoded as methionine. This gene is situated next to a closely related gene for transient receptor potential cation channel subfamily V member 5 (TRPV5). This locus has experienced positive selection in non-African populations, resulting in several non-synonymous codon differences among individuals of different genetic backgrounds. [provided by RefSeq, Feb 2015] PHENOTYPE: Mice homozygous for a knock-in allele exhibit impaired sperm motility and decreased fertilization by sperm. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Clec4f |
CTT |
CT |
6: 83,630,247 (GRCm39) |
|
probably null |
Het |
Dis3l |
T |
A |
9: 64,214,779 (GRCm39) |
Q930L |
probably benign |
Het |
Edem2 |
T |
C |
2: 155,555,279 (GRCm39) |
K275E |
probably benign |
Het |
Ehf |
T |
C |
2: 103,097,469 (GRCm39) |
I193V |
possibly damaging |
Het |
Gsdma3 |
A |
G |
11: 98,528,830 (GRCm39) |
N428S |
possibly damaging |
Het |
Gtf2h4 |
C |
A |
17: 35,982,117 (GRCm39) |
|
probably null |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Naalad2 |
A |
T |
9: 18,246,317 (GRCm39) |
|
probably null |
Het |
Ndufa8 |
C |
T |
2: 35,926,554 (GRCm39) |
A161T |
probably benign |
Het |
Nlrp14 |
A |
T |
7: 106,781,869 (GRCm39) |
L355F |
probably damaging |
Het |
Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Pcnx4 |
T |
C |
12: 72,622,172 (GRCm39) |
I1047T |
probably benign |
Het |
Pcolce2 |
G |
A |
9: 95,560,458 (GRCm39) |
W169* |
probably null |
Het |
Plxdc2 |
A |
G |
2: 16,517,001 (GRCm39) |
D94G |
probably benign |
Het |
Rp1 |
A |
T |
1: 4,416,182 (GRCm39) |
Y1643* |
probably null |
Het |
Skint4 |
A |
G |
4: 111,975,402 (GRCm39) |
T121A |
possibly damaging |
Het |
Speg |
A |
G |
1: 75,407,109 (GRCm39) |
I3133V |
possibly damaging |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Trim34a |
T |
A |
7: 103,910,262 (GRCm39) |
S355T |
probably damaging |
Het |
Vps8 |
T |
C |
16: 21,387,163 (GRCm39) |
V1175A |
probably damaging |
Het |
|
Other mutations in Trpv6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01878:Trpv6
|
APN |
6 |
41,603,801 (GRCm39) |
splice site |
probably benign |
|
IGL02033:Trpv6
|
APN |
6 |
41,604,551 (GRCm39) |
splice site |
probably benign |
|
IGL02439:Trpv6
|
APN |
6 |
41,602,421 (GRCm39) |
missense |
probably damaging |
1.00 |
R0973:Trpv6
|
UTSW |
6 |
41,602,122 (GRCm39) |
missense |
probably benign |
0.01 |
R0973:Trpv6
|
UTSW |
6 |
41,602,122 (GRCm39) |
missense |
probably benign |
0.01 |
R0974:Trpv6
|
UTSW |
6 |
41,602,122 (GRCm39) |
missense |
probably benign |
0.01 |
R1385:Trpv6
|
UTSW |
6 |
41,598,063 (GRCm39) |
missense |
probably benign |
0.32 |
R1696:Trpv6
|
UTSW |
6 |
41,598,702 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2095:Trpv6
|
UTSW |
6 |
41,598,690 (GRCm39) |
missense |
probably damaging |
0.99 |
R2298:Trpv6
|
UTSW |
6 |
41,613,010 (GRCm39) |
missense |
possibly damaging |
0.62 |
R2519:Trpv6
|
UTSW |
6 |
41,601,550 (GRCm39) |
nonsense |
probably null |
|
R3522:Trpv6
|
UTSW |
6 |
41,604,339 (GRCm39) |
missense |
probably damaging |
0.99 |
R4172:Trpv6
|
UTSW |
6 |
41,602,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R4397:Trpv6
|
UTSW |
6 |
41,602,172 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4568:Trpv6
|
UTSW |
6 |
41,603,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R4571:Trpv6
|
UTSW |
6 |
41,598,678 (GRCm39) |
missense |
probably damaging |
1.00 |
R5547:Trpv6
|
UTSW |
6 |
41,613,088 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6344:Trpv6
|
UTSW |
6 |
41,602,356 (GRCm39) |
splice site |
probably null |
|
R6989:Trpv6
|
UTSW |
6 |
41,602,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R7427:Trpv6
|
UTSW |
6 |
41,602,087 (GRCm39) |
missense |
probably benign |
|
R7445:Trpv6
|
UTSW |
6 |
41,598,276 (GRCm39) |
missense |
probably damaging |
1.00 |
R7538:Trpv6
|
UTSW |
6 |
41,603,101 (GRCm39) |
missense |
probably benign |
0.01 |
R7960:Trpv6
|
UTSW |
6 |
41,604,612 (GRCm39) |
missense |
probably benign |
0.00 |
R8059:Trpv6
|
UTSW |
6 |
41,601,520 (GRCm39) |
missense |
probably benign |
0.00 |
R9159:Trpv6
|
UTSW |
6 |
41,603,074 (GRCm39) |
missense |
probably benign |
|
R9307:Trpv6
|
UTSW |
6 |
41,602,378 (GRCm39) |
missense |
probably benign |
0.31 |
R9635:Trpv6
|
UTSW |
6 |
41,599,901 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9732:Trpv6
|
UTSW |
6 |
41,603,862 (GRCm39) |
nonsense |
probably null |
|
R9745:Trpv6
|
UTSW |
6 |
41,600,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AATTGGCTTGGGCATTGCAG -3'
(R):5'- ACAGGAGAGCACCCTTTGTC -3'
Sequencing Primer
(F):5'- CTCAGCATGAGGTCTAGACTACATG -3'
(R):5'- AGAAAGTGCTGGATTCTCTCTC -3'
|
Posted On |
2014-10-30 |