Incidental Mutation 'R1385:Trpv6'
| ID |
163207 |
| 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 |
039447-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R1385 (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 C
at 41598063 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 748
(D748G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031902]
[ENSMUST00000114732]
[ENSMUST00000201471]
|
| AlphaFold |
Q91WD2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031902
AA Change: D748G
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000031902
Gene: ENSMUSG00000029868
AA Change: D748G
| 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: ENSMUST00000167082
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167497
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194405
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201471
AA Change: D748G
PolyPhen 2
Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000143854
Gene: ENSMUSG00000029868
AA Change: D748G
| 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: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.5%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh7a1 |
A |
G |
18: 56,675,357 (GRCm39) |
S269P |
probably damaging |
Het |
| Arf3 |
A |
G |
15: 98,640,494 (GRCm39) |
V43A |
probably damaging |
Het |
| Arhgap1 |
C |
A |
2: 91,501,176 (GRCm39) |
N457K |
probably damaging |
Het |
| Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
| Bltp3b |
A |
G |
10: 89,626,503 (GRCm39) |
N399S |
possibly damaging |
Het |
| Ccdc39 |
C |
T |
3: 33,875,561 (GRCm39) |
E544K |
probably damaging |
Het |
| Cfap44 |
A |
G |
16: 44,291,138 (GRCm39) |
E1546G |
probably damaging |
Het |
| Cntn6 |
A |
G |
6: 104,838,861 (GRCm39) |
I900V |
probably benign |
Het |
| Edem1 |
A |
G |
6: 108,823,645 (GRCm39) |
N347S |
probably damaging |
Het |
| Erich6 |
A |
G |
3: 58,544,251 (GRCm39) |
I112T |
probably benign |
Het |
| Gemin2 |
A |
G |
12: 59,064,932 (GRCm39) |
|
probably null |
Het |
| Hunk |
T |
A |
16: 90,269,374 (GRCm39) |
V306E |
possibly damaging |
Het |
| Hydin |
A |
G |
8: 111,249,836 (GRCm39) |
I2260V |
probably benign |
Het |
| Insyn1 |
AGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGG |
9: 58,406,715 (GRCm39) |
|
probably benign |
Het |
| Itgbl1 |
A |
G |
14: 123,898,923 (GRCm39) |
|
probably null |
Het |
| Iws1 |
T |
A |
18: 32,223,483 (GRCm39) |
N630K |
probably benign |
Het |
| Lama2 |
C |
A |
10: 27,100,039 (GRCm39) |
R822L |
probably benign |
Het |
| Lrrc56 |
A |
G |
7: 140,785,438 (GRCm39) |
D130G |
probably damaging |
Het |
| Mageb11 |
T |
A |
X: 89,935,874 (GRCm39) |
C43S |
probably benign |
Het |
| Malrd1 |
A |
T |
2: 16,047,039 (GRCm39) |
I1722F |
unknown |
Het |
| Mark4 |
G |
T |
7: 19,159,952 (GRCm39) |
|
probably null |
Het |
| Muc5b |
T |
C |
7: 141,415,874 (GRCm39) |
V2940A |
probably benign |
Het |
| Mxd1 |
T |
A |
6: 86,628,549 (GRCm39) |
Q62L |
probably damaging |
Het |
| Ncapd2 |
A |
T |
6: 125,150,078 (GRCm39) |
S917T |
probably benign |
Het |
| Nr2c2 |
T |
G |
6: 92,131,451 (GRCm39) |
F171C |
probably damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Nynrin |
A |
T |
14: 56,102,356 (GRCm39) |
Q675L |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Ocstamp |
T |
C |
2: 165,237,959 (GRCm39) |
D435G |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,411,108 (GRCm39) |
T553A |
probably benign |
Het |
| Pllp |
A |
G |
8: 95,405,996 (GRCm39) |
Y96H |
probably benign |
Het |
| Polg2 |
A |
G |
11: 106,659,149 (GRCm39) |
S455P |
probably damaging |
Het |
| Ppp1r9b |
A |
G |
11: 94,883,037 (GRCm39) |
T222A |
probably benign |
Het |
| Prkcd |
G |
A |
14: 30,329,362 (GRCm39) |
T26I |
probably damaging |
Het |
| Prkcq |
A |
G |
2: 11,261,097 (GRCm39) |
H383R |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,102,312 (GRCm39) |
I2490M |
possibly damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Scn9a |
G |
A |
2: 66,393,886 (GRCm39) |
P229L |
probably damaging |
Het |
| Serpinb5 |
A |
G |
1: 106,803,853 (GRCm39) |
T180A |
probably damaging |
Het |
| Slc5a2 |
G |
C |
7: 127,869,803 (GRCm39) |
R412P |
probably damaging |
Het |
| Sphk2 |
A |
G |
7: 45,361,715 (GRCm39) |
I82T |
probably damaging |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Treml1 |
T |
G |
17: 48,667,226 (GRCm39) |
V37G |
probably damaging |
Het |
| Trim33 |
A |
G |
3: 103,218,266 (GRCm39) |
K272E |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,129,923 (GRCm39) |
H681R |
probably benign |
Het |
| Vmn2r82 |
A |
T |
10: 79,232,325 (GRCm39) |
R775* |
probably null |
Het |
| Xpo1 |
T |
C |
11: 23,211,863 (GRCm39) |
L8S |
probably damaging |
Het |
| Zfand4 |
G |
A |
6: 116,250,599 (GRCm39) |
G10R |
probably damaging |
Het |
| Zfp119a |
T |
A |
17: 56,172,826 (GRCm39) |
H339L |
probably damaging |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
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 |
|
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 |
|
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'- TGGAGCCCTGGAGCATTTATTCCC -3'
(R):5'- ACTGGCTGCATAGAACCTTCAACAC -3'
Sequencing Primer
(F):5'- TTCTGATGCTTGGTGAGAGC -3'
(R):5'- TAGAACCTTCAACACTGGTAGG -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation