Incidental Mutation 'R2298:Trpv6'
| ID |
245223 |
| 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 |
040297-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R2298 (G1)
|
| Quality Score |
223 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
41597558-41613339 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41613010 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 52
(I52T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031902]
[ENSMUST00000201471]
|
| AlphaFold |
Q91WD2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031902
AA Change: I52T
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000031902
Gene: ENSMUSG00000029868
AA Change: I52T
| 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 |
possibly damaging
Transcript: ENSMUST00000201471
AA Change: I52T
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000143854
Gene: ENSMUSG00000029868
AA Change: I52T
| 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: 95.0%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 73,209,247 (GRCm39) |
D459G |
probably benign |
Het |
| Abhd12 |
C |
A |
2: 150,743,414 (GRCm39) |
|
probably benign |
Het |
| Atcay |
A |
T |
10: 81,046,397 (GRCm39) |
I309N |
probably damaging |
Het |
| Capn8 |
T |
C |
1: 182,440,985 (GRCm39) |
V473A |
probably benign |
Het |
| Cramp1 |
T |
C |
17: 25,216,454 (GRCm39) |
I220V |
probably damaging |
Het |
| Creb3l1 |
G |
A |
2: 91,822,321 (GRCm39) |
P222S |
probably damaging |
Het |
| Crocc |
G |
A |
4: 140,752,770 (GRCm39) |
A1374V |
probably benign |
Het |
| Crybg1 |
A |
G |
10: 43,875,218 (GRCm39) |
L630S |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Erbb4 |
C |
T |
1: 68,081,690 (GRCm39) |
D1115N |
probably damaging |
Het |
| Fasn |
T |
A |
11: 120,704,642 (GRCm39) |
L1314F |
possibly damaging |
Het |
| Galm |
T |
A |
17: 80,489,126 (GRCm39) |
C84* |
probably null |
Het |
| H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
| Klf13 |
T |
C |
7: 63,541,504 (GRCm39) |
K208E |
probably damaging |
Het |
| Kremen1 |
AGGCGG |
AGGCGGCGG |
11: 5,151,788 (GRCm39) |
|
probably benign |
Het |
| Lgmn |
A |
G |
12: 102,361,937 (GRCm39) |
F388S |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Msh2 |
T |
A |
17: 88,015,930 (GRCm39) |
Y521N |
probably damaging |
Het |
| Myo5b |
G |
T |
18: 74,758,676 (GRCm39) |
R219L |
probably damaging |
Het |
| Myzap |
A |
T |
9: 71,456,039 (GRCm39) |
M327K |
probably damaging |
Het |
| Ngfr |
AAGCAGCAGCAGCAGCAGCAGCAG |
AAGCAGCAGCAGCAGCAGCAG |
11: 95,478,316 (GRCm39) |
|
probably benign |
Het |
| Phf8-ps |
T |
C |
17: 33,285,752 (GRCm39) |
E350G |
probably damaging |
Het |
| Rps6ka5 |
A |
G |
12: 100,517,713 (GRCm39) |
F796S |
probably damaging |
Het |
| Srl |
T |
C |
16: 4,300,762 (GRCm39) |
I332V |
probably damaging |
Het |
| Stab2 |
T |
A |
10: 86,790,338 (GRCm39) |
|
probably null |
Het |
| Tenm2 |
T |
C |
11: 35,937,604 (GRCm39) |
T1690A |
possibly damaging |
Het |
| Traf4 |
T |
A |
11: 78,051,677 (GRCm39) |
D241V |
probably benign |
Het |
| Zfp768 |
T |
A |
7: 126,943,361 (GRCm39) |
M256L |
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 |
|
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'- ACAAGGGGCACAAACTGTCC -3'
(R):5'- CTCCACAGGTGAAGTAGGAGAC -3'
Sequencing Primer
(F):5'- TGTCCAGACAGGGTGCTAAG -3'
(R):5'- CCACAGGTGAAGTAGGAGACAGAAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation