Incidental Mutation 'R7652:Trpc3'
| ID |
590893 |
| 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 |
045729-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7652 (G1)
|
| Quality Score |
189.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
36674626-36744276 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 36692677 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 772
(V772F)
|
| 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: V772F
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000029271
Gene: ENSMUSG00000027716
AA Change: V772F
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (66/66) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
A |
G |
4: 156,253,675 (GRCm39) |
|
probably null |
Het |
| Alb |
G |
C |
5: 90,615,214 (GRCm39) |
R242P |
probably damaging |
Het |
| Anxa2r2 |
A |
T |
13: 120,488,529 (GRCm39) |
S7T |
possibly damaging |
Het |
| Aph1b |
T |
C |
9: 66,691,823 (GRCm39) |
T195A |
probably benign |
Het |
| Apoe |
G |
T |
7: 19,430,535 (GRCm39) |
R236S |
possibly damaging |
Het |
| Arap3 |
G |
T |
18: 38,111,505 (GRCm39) |
T1137K |
probably damaging |
Het |
| Arhgap45 |
C |
T |
10: 79,864,672 (GRCm39) |
A908V |
probably benign |
Het |
| Atp13a1 |
T |
C |
8: 70,258,209 (GRCm39) |
C965R |
probably damaging |
Het |
| C7 |
A |
G |
15: 5,041,587 (GRCm39) |
Y440H |
probably damaging |
Het |
| Cacna2d2 |
T |
C |
9: 107,401,397 (GRCm39) |
|
probably null |
Het |
| Ddah2 |
C |
A |
17: 35,280,026 (GRCm39) |
R173S |
possibly damaging |
Het |
| Dnajc11 |
T |
C |
4: 152,058,682 (GRCm39) |
Y337H |
probably damaging |
Het |
| Dnajc25 |
A |
G |
4: 59,020,483 (GRCm39) |
K302R |
probably benign |
Het |
| Dnajc6 |
A |
T |
4: 101,463,874 (GRCm39) |
Q209L |
probably damaging |
Het |
| Drosha |
G |
A |
15: 12,859,522 (GRCm39) |
V577I |
probably benign |
Het |
| Ebf2 |
G |
T |
14: 67,628,016 (GRCm39) |
|
probably null |
Het |
| Epx |
A |
G |
11: 87,766,160 (GRCm39) |
|
probably null |
Het |
| Eqtn |
T |
C |
4: 94,816,574 (GRCm39) |
Y73C |
probably damaging |
Het |
| Fam107b |
A |
G |
2: 3,773,884 (GRCm39) |
N21S |
probably benign |
Het |
| Fasn |
G |
A |
11: 120,707,154 (GRCm39) |
S857F |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,406,336 (GRCm39) |
N1029S |
probably damaging |
Het |
| Gas8 |
A |
G |
8: 124,253,275 (GRCm39) |
I208V |
probably benign |
Het |
| Gm3269 |
T |
C |
14: 16,026,209 (GRCm39) |
I88T |
probably benign |
Het |
| Gm8005 |
C |
A |
14: 42,258,919 (GRCm39) |
L136F |
|
Het |
| Grid2ip |
C |
A |
5: 143,368,393 (GRCm39) |
P743Q |
probably damaging |
Het |
| H2-T15 |
A |
T |
17: 36,367,675 (GRCm39) |
V221D |
probably damaging |
Het |
| Hbs1l |
C |
T |
10: 21,240,659 (GRCm39) |
T626I |
probably benign |
Het |
| Hdac3 |
T |
A |
18: 38,087,972 (GRCm39) |
|
probably benign |
Het |
| Hnrnpab |
T |
C |
11: 51,496,400 (GRCm39) |
Y94C |
probably damaging |
Het |
| Homer2 |
T |
C |
7: 81,299,414 (GRCm39) |
D17G |
probably damaging |
Het |
| Ikbke |
C |
T |
1: 131,199,569 (GRCm39) |
R308Q |
probably damaging |
Het |
| Ints10 |
A |
G |
8: 69,277,771 (GRCm39) |
T682A |
possibly damaging |
Het |
| Klhl3 |
G |
A |
13: 58,261,146 (GRCm39) |
|
probably benign |
Het |
| Klk1b9 |
A |
T |
7: 43,445,514 (GRCm39) |
T235S |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,520,717 (GRCm39) |
T1798A |
probably benign |
Het |
| Kri1 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTCCTCCTCCTC |
9: 21,192,352 (GRCm39) |
|
probably benign |
Het |
| Krtap4-6 |
T |
C |
11: 99,556,440 (GRCm39) |
I96V |
unknown |
Het |
| Lef1 |
A |
C |
3: 130,994,003 (GRCm39) |
R354S |
probably damaging |
Het |
| Lrp6 |
A |
T |
6: 134,488,208 (GRCm39) |
L296* |
probably null |
Het |
| Maml2 |
T |
C |
9: 13,532,945 (GRCm39) |
Y720H |
|
Het |
| Mmrn1 |
A |
G |
6: 60,954,490 (GRCm39) |
N924D |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,474,156 (GRCm39) |
K1624E |
probably damaging |
Het |
| Nos3 |
T |
A |
5: 24,588,610 (GRCm39) |
V1112D |
probably damaging |
Het |
| Or2y14 |
T |
C |
11: 49,404,512 (GRCm39) |
F16L |
probably damaging |
Het |
| Or4c111 |
C |
T |
2: 88,843,893 (GRCm39) |
V172I |
probably benign |
Het |
| Or5an1b |
C |
A |
19: 12,299,651 (GRCm39) |
C180F |
probably damaging |
Het |
| Or5w13 |
A |
G |
2: 87,523,704 (GRCm39) |
I174T |
probably damaging |
Het |
| Or6c70 |
A |
T |
10: 129,710,346 (GRCm39) |
N93K |
probably damaging |
Het |
| Phospho1 |
T |
C |
11: 95,721,645 (GRCm39) |
L105S |
probably damaging |
Het |
| Prss35 |
T |
A |
9: 86,638,023 (GRCm39) |
N264K |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,677,578 (GRCm39) |
D732G |
probably benign |
Het |
| Rab18 |
A |
T |
18: 6,783,123 (GRCm39) |
T64S |
possibly damaging |
Het |
| Rft1 |
A |
G |
14: 30,399,773 (GRCm39) |
Q319R |
probably benign |
Het |
| Rgs7 |
T |
A |
1: 174,921,396 (GRCm39) |
M220L |
probably benign |
Het |
| Rnf13 |
A |
G |
3: 57,671,772 (GRCm39) |
N28S |
probably benign |
Het |
| Setd3 |
A |
T |
12: 108,078,548 (GRCm39) |
I311N |
probably damaging |
Het |
| Setd5 |
G |
A |
6: 113,098,725 (GRCm39) |
R786H |
probably damaging |
Het |
| Slc26a6 |
T |
C |
9: 108,733,143 (GRCm39) |
|
probably null |
Het |
| Slc26a9 |
A |
T |
1: 131,691,634 (GRCm39) |
T626S |
probably benign |
Het |
| Stambp |
A |
T |
6: 83,540,910 (GRCm39) |
|
probably null |
Het |
| Stom |
A |
T |
2: 35,206,041 (GRCm39) |
N229K |
probably benign |
Het |
| Tlr1 |
A |
T |
5: 65,084,130 (GRCm39) |
L149* |
probably null |
Het |
| Ube3a |
A |
G |
7: 58,893,102 (GRCm39) |
|
probably benign |
Het |
| Ugt2b35 |
T |
A |
5: 87,149,369 (GRCm39) |
F207I |
probably damaging |
Het |
| Usp53 |
A |
T |
3: 122,746,884 (GRCm39) |
D360E |
possibly damaging |
Het |
| Vmn2r96 |
T |
G |
17: 18,793,832 (GRCm39) |
S59A |
probably benign |
Het |
| Wdr70 |
A |
G |
15: 8,108,700 (GRCm39) |
C149R |
probably benign |
Het |
| Wnt3 |
A |
G |
11: 103,703,290 (GRCm39) |
T258A |
possibly damaging |
Het |
| Zfp729b |
T |
C |
13: 67,739,371 (GRCm39) |
T965A |
probably benign |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
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 |
|
R5098:Trpc3
|
UTSW |
3 |
36,717,047 (GRCm39) |
missense |
probably benign |
0.07 |
|
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 |
|
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'- TCTCTTCTAAGTTCACACACGG -3'
(R):5'- ACATCAGGTCTGGAGTGTCTTG -3'
Sequencing Primer
(F):5'- GTTCACACACGGAAATTAATGAAC -3'
(R):5'- GGAAGTTTGCTCGTTCCA -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation