Incidental Mutation 'R6344:Trpv6'
ID |
514046 |
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 |
044498-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.126)
|
Stock # |
R6344 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
41597558-41613339 bp(-) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
T to C
at 41602356 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143854
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031902]
[ENSMUST00000114732]
[ENSMUST00000201471]
|
AlphaFold |
Q91WD2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000031902
|
SMART Domains |
Protein: ENSMUSP00000031902 Gene: ENSMUSG00000029868
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 |
probably benign
Transcript: ENSMUST00000114732
|
SMART Domains |
Protein: ENSMUSP00000110380 Gene: ENSMUSG00000029869
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
EPH_lbd
|
34 |
227 |
2.18e-100 |
SMART |
low complexity region
|
242 |
255 |
N/A |
INTRINSIC |
Pfam:GCC2_GCC3
|
299 |
341 |
1.9e-9 |
PFAM |
FN3
|
365 |
462 |
3.59e-3 |
SMART |
FN3
|
481 |
562 |
3.73e-10 |
SMART |
Pfam:EphA2_TM
|
589 |
660 |
3.4e-16 |
PFAM |
Pfam:Pkinase
|
663 |
908 |
1.4e-29 |
PFAM |
Pfam:Pkinase_Tyr
|
663 |
908 |
1.1e-67 |
PFAM |
SAM
|
938 |
1005 |
1e-17 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167497
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194405
|
Predicted Effect |
probably null
Transcript: ENSMUST00000201471
|
SMART Domains |
Protein: ENSMUSP00000143854 Gene: ENSMUSG00000029868
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: 100.0%
- 3x: 99.8%
- 10x: 98.3%
- 20x: 94.7%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
C |
T |
2: 25,327,706 (GRCm39) |
P707L |
probably damaging |
Het |
Bbip1 |
A |
G |
19: 53,919,912 (GRCm39) |
V23A |
probably benign |
Het |
Bdnf |
A |
T |
2: 109,554,022 (GRCm39) |
Y132F |
probably benign |
Het |
C4bp |
T |
C |
1: 130,583,752 (GRCm39) |
D72G |
probably benign |
Het |
Cdcp1 |
T |
A |
9: 123,011,447 (GRCm39) |
K343N |
possibly damaging |
Het |
Cep112 |
A |
T |
11: 108,410,000 (GRCm39) |
Y472F |
probably damaging |
Het |
Cops2 |
A |
T |
2: 125,700,899 (GRCm39) |
|
probably benign |
Het |
Cyp27a1 |
T |
C |
1: 74,776,008 (GRCm39) |
|
probably null |
Het |
Dnah7a |
T |
C |
1: 53,436,349 (GRCm39) |
I3998V |
probably benign |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Dnhd1 |
A |
G |
7: 105,343,817 (GRCm39) |
I1720M |
probably benign |
Het |
Fkbpl |
A |
G |
17: 34,864,544 (GRCm39) |
K104R |
probably damaging |
Het |
Helq |
G |
T |
5: 100,914,594 (GRCm39) |
A966E |
probably benign |
Het |
Iba57 |
G |
A |
11: 59,049,119 (GRCm39) |
P350L |
probably damaging |
Het |
Iqgap3 |
T |
C |
3: 87,989,401 (GRCm39) |
|
probably null |
Het |
Kcnj9 |
A |
G |
1: 172,153,713 (GRCm39) |
V137A |
probably benign |
Het |
Kif19a |
G |
A |
11: 114,672,777 (GRCm39) |
|
probably null |
Het |
Kmt2a |
A |
T |
9: 44,733,156 (GRCm39) |
|
probably benign |
Het |
Lilra5 |
T |
A |
7: 4,241,785 (GRCm39) |
F195I |
probably damaging |
Het |
Mcm9 |
A |
G |
10: 53,414,033 (GRCm39) |
I349T |
probably benign |
Het |
Mlst8 |
A |
G |
17: 24,696,300 (GRCm39) |
L143P |
probably damaging |
Het |
Mrc1 |
T |
C |
2: 14,248,985 (GRCm39) |
F174L |
probably damaging |
Het |
Muc5b |
T |
A |
7: 141,416,708 (GRCm39) |
L3218Q |
possibly damaging |
Het |
Myo1h |
A |
G |
5: 114,466,776 (GRCm39) |
S275G |
probably damaging |
Het |
Myo5a |
T |
A |
9: 75,067,791 (GRCm39) |
V615D |
probably benign |
Het |
Myo9b |
T |
C |
8: 71,780,558 (GRCm39) |
L485P |
probably damaging |
Het |
Nav1 |
A |
G |
1: 135,378,534 (GRCm39) |
Y1646H |
probably damaging |
Het |
Nsf |
A |
T |
11: 103,752,730 (GRCm39) |
V539D |
probably damaging |
Het |
Nutm1 |
A |
T |
2: 112,079,247 (GRCm39) |
N889K |
possibly damaging |
Het |
Or2n1b |
C |
T |
17: 38,459,611 (GRCm39) |
A44V |
probably benign |
Het |
Or55b3 |
A |
G |
7: 102,126,738 (GRCm39) |
L113P |
probably damaging |
Het |
Pcdhga2 |
T |
A |
18: 37,803,815 (GRCm39) |
V553E |
probably benign |
Het |
Pkmyt1 |
T |
C |
17: 23,951,730 (GRCm39) |
S95P |
possibly damaging |
Het |
Ranbp2 |
T |
A |
10: 58,319,708 (GRCm39) |
|
probably null |
Het |
Saxo2 |
T |
A |
7: 82,284,073 (GRCm39) |
I262F |
probably damaging |
Het |
Sco1 |
C |
T |
11: 66,946,571 (GRCm39) |
R115W |
probably damaging |
Het |
Slc27a3 |
G |
T |
3: 90,294,961 (GRCm39) |
Y330* |
probably null |
Het |
Slc6a4 |
C |
T |
11: 76,909,080 (GRCm39) |
T364I |
probably damaging |
Het |
Slit2 |
A |
G |
5: 48,377,023 (GRCm39) |
I388V |
probably benign |
Het |
Smc6 |
C |
A |
12: 11,347,107 (GRCm39) |
|
probably benign |
Het |
Snx25 |
C |
T |
8: 46,488,675 (GRCm39) |
W747* |
probably null |
Het |
Stard9 |
T |
A |
2: 120,534,801 (GRCm39) |
M3686K |
probably benign |
Het |
Syne1 |
T |
C |
10: 4,972,212 (GRCm39) |
D8732G |
probably benign |
Het |
Tcaf3 |
A |
G |
6: 42,574,105 (GRCm39) |
S36P |
possibly damaging |
Het |
Tspear |
T |
C |
10: 77,710,847 (GRCm39) |
F490L |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,552,196 (GRCm39) |
I31147T |
probably damaging |
Het |
Ugt3a1 |
A |
C |
15: 9,306,317 (GRCm39) |
E155D |
probably damaging |
Het |
Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
Washc2 |
G |
T |
6: 116,235,719 (GRCm39) |
Q977H |
probably benign |
Het |
Yars2 |
T |
A |
16: 16,120,899 (GRCm39) |
W18R |
probably benign |
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 |
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 |
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'- TAGACACAGCACATGGTAAAGC -3'
(R):5'- ATGCAGCTTTGAGTCCTGAC -3'
Sequencing Primer
(F):5'- TGTACAGCACATAGATGGCAC -3'
(R):5'- ATGCAGCTTTGAGTCCTGACTATCTC -3'
|
Posted On |
2018-04-27 |