Incidental Mutation 'R4568:Trpv6'
| ID |
341940 |
| 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 |
041792-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R4568 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
41597558-41613339 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 41603503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Histidine
at position 206
(P206H)
|
| 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: P206H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031902
Gene: ENSMUSG00000029868
AA Change: P206H
| 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: P206H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143854
Gene: ENSMUSG00000029868
AA Change: P206H
| 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 |
|
| Meta Mutation Damage Score |
0.2177 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (36/36) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
T |
A |
7: 119,162,740 (GRCm39) |
W5R |
probably benign |
Het |
| Bik |
T |
C |
15: 83,425,645 (GRCm39) |
|
probably null |
Het |
| Col6a1 |
A |
T |
10: 76,555,031 (GRCm39) |
|
probably benign |
Het |
| Crem |
A |
G |
18: 3,299,175 (GRCm39) |
I83T |
probably damaging |
Het |
| Csn1s1 |
G |
A |
5: 87,828,763 (GRCm39) |
V276I |
possibly damaging |
Het |
| Ctnna3 |
C |
T |
10: 63,688,588 (GRCm39) |
T344M |
possibly damaging |
Het |
| Dgcr8 |
G |
A |
16: 18,098,258 (GRCm39) |
P378S |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Gpr139 |
C |
T |
7: 118,744,028 (GRCm39) |
V186M |
probably damaging |
Het |
| Krba1 |
A |
G |
6: 48,386,657 (GRCm39) |
T422A |
probably damaging |
Het |
| Lgals8 |
T |
G |
13: 12,468,254 (GRCm39) |
Y125S |
probably damaging |
Het |
| Map4k1 |
G |
A |
7: 28,686,079 (GRCm39) |
G107D |
probably damaging |
Het |
| Mfsd6 |
A |
T |
1: 52,702,448 (GRCm39) |
Y599* |
probably null |
Het |
| Omt2b |
T |
A |
9: 78,235,529 (GRCm39) |
|
probably benign |
Het |
| Or1d2 |
A |
G |
11: 74,256,035 (GRCm39) |
E180G |
probably damaging |
Het |
| Or9s15 |
A |
T |
1: 92,525,113 (GRCm39) |
M291L |
probably benign |
Het |
| Pga5 |
A |
G |
19: 10,649,216 (GRCm39) |
Y235H |
probably damaging |
Het |
| Phldb2 |
T |
A |
16: 45,598,081 (GRCm39) |
K869* |
probably null |
Het |
| Pik3cb |
T |
C |
9: 98,972,355 (GRCm39) |
M268V |
probably benign |
Het |
| Pla2g4a |
T |
C |
1: 149,717,977 (GRCm39) |
D624G |
probably benign |
Het |
| Plxna4 |
T |
A |
6: 32,129,873 (GRCm39) |
I1817F |
probably damaging |
Het |
| Psmg3 |
A |
G |
5: 139,812,004 (GRCm39) |
I32T |
probably damaging |
Het |
| Ptpn4 |
T |
C |
1: 119,607,789 (GRCm39) |
E757G |
probably damaging |
Het |
| Rasl2-9 |
AGG |
A |
7: 5,128,374 (GRCm39) |
|
probably null |
Het |
| Ripply3 |
T |
A |
16: 94,136,688 (GRCm39) |
D116E |
probably damaging |
Het |
| Robo4 |
T |
C |
9: 37,316,118 (GRCm39) |
V263A |
possibly damaging |
Het |
| Slc5a9 |
C |
A |
4: 111,748,941 (GRCm39) |
|
probably null |
Het |
| Spef2 |
T |
C |
15: 9,647,303 (GRCm39) |
H1008R |
probably damaging |
Het |
| Stag1 |
T |
C |
9: 100,730,722 (GRCm39) |
V379A |
probably damaging |
Het |
| Tasor |
A |
T |
14: 27,198,658 (GRCm39) |
|
probably null |
Het |
| Tbc1d9 |
A |
G |
8: 83,997,806 (GRCm39) |
E1121G |
probably benign |
Het |
| Tpr |
T |
C |
1: 150,268,710 (GRCm39) |
|
probably benign |
Het |
| Vmn2r63 |
T |
C |
7: 42,583,250 (GRCm39) |
|
probably null |
Het |
| Vmn2r65 |
C |
T |
7: 84,596,677 (GRCm39) |
C126Y |
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 |
|
R2287:Trpv6
|
UTSW |
6 |
41,603,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- GGTTCCCTGGTGACTCATTC -3'
(R):5'- GTTCAAAACTTAGGGCCAGGGG -3'
Sequencing Primer
(F):5'- GGTGACTCATTCTCCATCAGAG -3'
(R):5'- CCAGGGGCCAGTTTCCC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation