Incidental Mutation 'R5098:Trpc3'
| ID |
388117 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trpc3
|
| Ensembl Gene |
ENSMUSG00000027716 |
| Gene Name |
transient receptor potential cation channel, subfamily C, member 3 |
| Synonyms |
Trp3, Trcp3, Trrp3 |
| MMRRC Submission |
042687-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5098 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
36674626-36744276 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 36717047 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 330
(D330E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029271
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029271]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029271
AA Change: D330E
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000029271
Gene: ENSMUSG00000027716
AA Change: D330E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
47 |
68 |
N/A |
INTRINSIC |
|
ANK
|
100 |
129 |
2.47e2 |
SMART |
|
ANK
|
135 |
163 |
1.97e1 |
SMART |
|
ANK
|
221 |
250 |
1.13e1 |
SMART |
|
Pfam:TRP_2
|
256 |
318 |
3e-28 |
PFAM |
|
transmembrane domain
|
414 |
433 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
443 |
744 |
4.4e-34 |
PFAM |
|
Pfam:PKD_channel
|
486 |
739 |
1.4e-14 |
PFAM |
|
| Meta Mutation Damage Score |
0.0924 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
100% (54/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane protein that can form a non-selective channel permeable to calcium and other cations. The encoded protein appears to be induced to form channels by a receptor tyrosine kinase-activated phosphatidylinositol second messenger system and also by depletion of intracellular calcium stores. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous knockout mice or mice heterozygoous for a point mutation in exon 7 display an abnormal gait. Abnormal nervous system electrophysiology is also described. An A1903G point mutation in exon 7 results in homozygous lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
C |
11: 109,847,944 (GRCm39) |
I784V |
probably benign |
Het |
| Agxt |
A |
G |
1: 93,065,029 (GRCm39) |
H146R |
probably benign |
Het |
| Art5 |
A |
G |
7: 101,747,177 (GRCm39) |
F201L |
probably damaging |
Het |
| Bcl2a1b |
T |
A |
9: 89,081,432 (GRCm39) |
M7K |
probably benign |
Het |
| Card10 |
G |
A |
15: 78,660,917 (GRCm39) |
A1030V |
probably benign |
Het |
| Ccdc66 |
G |
A |
14: 27,220,750 (GRCm39) |
T58M |
probably damaging |
Het |
| Cd72 |
C |
T |
4: 43,452,610 (GRCm39) |
G74R |
probably damaging |
Het |
| Cdc27 |
T |
C |
11: 104,398,113 (GRCm39) |
K749R |
probably damaging |
Het |
| Commd3 |
A |
T |
2: 18,678,988 (GRCm39) |
T102S |
possibly damaging |
Het |
| Cyp2f2 |
A |
G |
7: 26,829,304 (GRCm39) |
T270A |
possibly damaging |
Het |
| Dclre1b |
A |
G |
3: 103,716,452 (GRCm39) |
|
probably benign |
Het |
| Dennd1b |
T |
A |
1: 139,061,459 (GRCm39) |
D380E |
probably damaging |
Het |
| Dhx58 |
T |
C |
11: 100,585,999 (GRCm39) |
E674G |
probably benign |
Het |
| Dnaaf9 |
A |
G |
2: 130,640,101 (GRCm39) |
S128P |
probably damaging |
Het |
| Ecpas |
T |
C |
4: 58,877,048 (GRCm39) |
D129G |
probably damaging |
Het |
| Exoc5 |
T |
C |
14: 49,286,304 (GRCm39) |
T108A |
possibly damaging |
Het |
| Fat4 |
T |
C |
3: 38,942,438 (GRCm39) |
S444P |
probably benign |
Het |
| Gm3327 |
A |
T |
14: 44,362,292 (GRCm39) |
I64F |
unknown |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gpr15 |
T |
A |
16: 58,538,890 (GRCm39) |
R66S |
probably damaging |
Het |
| Hmga1b |
T |
C |
11: 120,654,018 (GRCm39) |
S102P |
probably benign |
Het |
| Kat6b |
G |
A |
14: 21,669,083 (GRCm39) |
|
probably benign |
Het |
| Kdm1b |
A |
G |
13: 47,216,467 (GRCm39) |
Y279C |
probably damaging |
Het |
| Krtap9-3 |
C |
A |
11: 99,488,816 (GRCm39) |
C22F |
probably benign |
Het |
| Map3k14 |
T |
A |
11: 103,115,185 (GRCm39) |
D817V |
probably damaging |
Het |
| Mybpc1 |
T |
C |
10: 88,381,926 (GRCm39) |
D588G |
probably damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2t6 |
A |
G |
14: 14,175,683 (GRCm38) |
V133A |
probably benign |
Het |
| Or5g29 |
A |
G |
2: 85,420,976 (GRCm39) |
I31V |
probably benign |
Het |
| Pcdhb20 |
A |
G |
18: 37,637,858 (GRCm39) |
D128G |
probably damaging |
Het |
| Pgap6 |
A |
T |
17: 26,337,902 (GRCm39) |
N429Y |
probably damaging |
Het |
| Ppil6 |
A |
G |
10: 41,366,616 (GRCm39) |
E47G |
probably null |
Het |
| Rad17 |
A |
T |
13: 100,754,154 (GRCm39) |
*689K |
probably null |
Het |
| Scin |
A |
T |
12: 40,127,541 (GRCm39) |
Y416* |
probably null |
Het |
| Serf1 |
A |
G |
13: 100,245,575 (GRCm39) |
T18A |
probably benign |
Het |
| Sik2 |
T |
C |
9: 50,906,891 (GRCm39) |
|
probably benign |
Het |
| Slc39a8 |
C |
A |
3: 135,563,918 (GRCm39) |
N254K |
probably benign |
Het |
| Spint3 |
A |
G |
2: 164,411,821 (GRCm39) |
F63L |
probably damaging |
Het |
| Suox |
A |
T |
10: 128,507,027 (GRCm39) |
S334T |
probably damaging |
Het |
| Tas2r119 |
A |
G |
15: 32,178,228 (GRCm39) |
M265V |
probably benign |
Het |
| Tmem126b |
A |
G |
7: 90,118,850 (GRCm39) |
L146P |
probably damaging |
Het |
| Ugt2a2 |
T |
C |
5: 87,612,040 (GRCm39) |
E290G |
possibly damaging |
Het |
| Ugt2b37 |
T |
A |
5: 87,390,812 (GRCm39) |
T352S |
probably damaging |
Het |
| Vmn1r40 |
T |
C |
6: 89,691,930 (GRCm39) |
V249A |
probably damaging |
Het |
| Zc3h18 |
A |
G |
8: 123,113,608 (GRCm39) |
D200G |
probably damaging |
Het |
| Zfp652 |
T |
C |
11: 95,643,762 (GRCm39) |
V140A |
probably damaging |
Het |
|
| Other mutations in Trpc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00913:Trpc3
|
APN |
3 |
36,694,788 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01701:Trpc3
|
APN |
3 |
36,725,743 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02254:Trpc3
|
APN |
3 |
36,705,669 (GRCm39) |
missense |
probably null |
0.98 |
|
IGL02723:Trpc3
|
APN |
3 |
36,704,377 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02816:Trpc3
|
APN |
3 |
36,705,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02867:Trpc3
|
APN |
3 |
36,694,850 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02929:Trpc3
|
APN |
3 |
36,692,623 (GRCm39) |
nonsense |
probably null |
|
|
IGL03076:Trpc3
|
APN |
3 |
36,694,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0032:Trpc3
|
UTSW |
3 |
36,698,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0032:Trpc3
|
UTSW |
3 |
36,698,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0115:Trpc3
|
UTSW |
3 |
36,678,566 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0481:Trpc3
|
UTSW |
3 |
36,678,566 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0645:Trpc3
|
UTSW |
3 |
36,725,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0694:Trpc3
|
UTSW |
3 |
36,725,704 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1190:Trpc3
|
UTSW |
3 |
36,725,497 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1635:Trpc3
|
UTSW |
3 |
36,694,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1828:Trpc3
|
UTSW |
3 |
36,692,695 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2204:Trpc3
|
UTSW |
3 |
36,704,298 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2937:Trpc3
|
UTSW |
3 |
36,688,532 (GRCm39) |
nonsense |
probably null |
|
|
R3732:Trpc3
|
UTSW |
3 |
36,692,708 (GRCm39) |
missense |
probably benign |
|
|
R3732:Trpc3
|
UTSW |
3 |
36,692,708 (GRCm39) |
missense |
probably benign |
|
|
R3733:Trpc3
|
UTSW |
3 |
36,692,708 (GRCm39) |
missense |
probably benign |
|
|
R4063:Trpc3
|
UTSW |
3 |
36,725,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4270:Trpc3
|
UTSW |
3 |
36,717,074 (GRCm39) |
nonsense |
probably null |
|
|
R4807:Trpc3
|
UTSW |
3 |
36,688,531 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4996:Trpc3
|
UTSW |
3 |
36,716,967 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5139:Trpc3
|
UTSW |
3 |
36,725,706 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5251:Trpc3
|
UTSW |
3 |
36,725,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5337:Trpc3
|
UTSW |
3 |
36,692,519 (GRCm39) |
intron |
probably benign |
|
|
R5891:Trpc3
|
UTSW |
3 |
36,725,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6512:Trpc3
|
UTSW |
3 |
36,716,907 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6618:Trpc3
|
UTSW |
3 |
36,694,844 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6750:Trpc3
|
UTSW |
3 |
36,678,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6950:Trpc3
|
UTSW |
3 |
36,692,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6986:Trpc3
|
UTSW |
3 |
36,709,165 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7031:Trpc3
|
UTSW |
3 |
36,675,459 (GRCm39) |
missense |
probably benign |
|
|
R7100:Trpc3
|
UTSW |
3 |
36,704,216 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7182:Trpc3
|
UTSW |
3 |
36,709,258 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7211:Trpc3
|
UTSW |
3 |
36,694,882 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7214:Trpc3
|
UTSW |
3 |
36,704,286 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7284:Trpc3
|
UTSW |
3 |
36,678,562 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7468:Trpc3
|
UTSW |
3 |
36,678,565 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7652:Trpc3
|
UTSW |
3 |
36,692,677 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7815:Trpc3
|
UTSW |
3 |
36,709,294 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7833:Trpc3
|
UTSW |
3 |
36,694,821 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7977:Trpc3
|
UTSW |
3 |
36,698,318 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7987:Trpc3
|
UTSW |
3 |
36,698,318 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8778:Trpc3
|
UTSW |
3 |
36,725,070 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8959:Trpc3
|
UTSW |
3 |
36,709,258 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9072:Trpc3
|
UTSW |
3 |
36,694,831 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9175:Trpc3
|
UTSW |
3 |
36,709,279 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9401:Trpc3
|
UTSW |
3 |
36,675,503 (GRCm39) |
nonsense |
probably null |
|
|
R9429:Trpc3
|
UTSW |
3 |
36,705,777 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9563:Trpc3
|
UTSW |
3 |
36,705,683 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9571:Trpc3
|
UTSW |
3 |
36,694,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9711:Trpc3
|
UTSW |
3 |
36,692,713 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Z1177:Trpc3
|
UTSW |
3 |
36,675,428 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCTAGACCGTTTTCCAAGTG -3'
(R):5'- TAGCCTTGTATCCAGGAAAGGG -3'
Sequencing Primer
(F):5'- AGCTCATGTCTGCAGATGAC -3'
(R):5'- TATCCAGGAAAGGGCTGCATCTTTC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation