Incidental Mutation 'IGL03195:Trpc5'
ID412793
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trpc5
Ensembl Gene ENSMUSG00000041710
Gene Nametransient receptor potential cation channel, subfamily C, member 5
SynonymsTRP5, Trrp5, CCE2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03195
Quality Score
Status
ChromosomeX
Chromosomal Location144381671-144688180 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 144382728 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 900 (M900L)
Ref Sequence ENSEMBL: ENSMUSP00000049063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040184]
Predicted Effect probably benign
Transcript: ENSMUST00000040184
AA Change: M900L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000049063
Gene: ENSMUSG00000041710
AA Change: M900L

DomainStartEndE-ValueType
Blast:ANK 31 63 6e-12 BLAST
ANK 69 98 3.54e-1 SMART
ANK 141 170 6.71e-2 SMART
Pfam:TRP_2 176 238 1.1e-30 PFAM
transmembrane domain 328 350 N/A INTRINSIC
Pfam:Ion_trans 364 636 2e-32 PFAM
low complexity region 842 853 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the transient receptor family. It encodes one of the seven mammalian TRPC (transient receptor potential channel) proteins. The encoded protein is a multi-pass membrane protein and is thought to form a receptor-activated non-selective calcium permeant cation channel. The protein is active alone or as a heteromultimeric assembly with TRPC1, TRPC3, and TRPC4. It also interacts with multiple proteins including calmodulin, CABP1, enkurin, Na(+)-H+ exchange regulatory factor (NHERF ), interferon-induced GTP-binding protein (MX1), ring finger protein 24 (RNF24), and SEC14 domain and spectrin repeat-containing protein 1 (SESTD1). [provided by RefSeq, May 2010]
PHENOTYPE: Mice with homozygous null alleles of the gene exhibit diminished innate fear response with reduction in synaptic activation and strength in neurons of the amygdala. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A G 5: 8,853,607 D1086G possibly damaging Het
Ahcyl2 T C 6: 29,906,769 probably benign Het
Ankrd42 T A 7: 92,591,858 Q431L probably benign Het
Arhgap12 A T 18: 6,031,766 F592I probably damaging Het
Arhgef28 A G 13: 97,951,563 probably null Het
Boc A G 16: 44,492,821 F560S probably damaging Het
Ccdc81 A T 7: 89,896,708 V96E probably benign Het
Cep162 C T 9: 87,225,786 S517N probably benign Het
Cntnap5a A G 1: 116,157,448 N372S probably benign Het
Dnah7a G A 1: 53,419,607 R3791C probably damaging Het
Fdxr T C 11: 115,276,092 Q57R probably benign Het
G3bp2 A G 5: 92,068,508 probably benign Het
Gm595 T A X: 48,872,948 Q296L possibly damaging Het
Hmcn1 G A 1: 150,802,909 T487I probably benign Het
Kpna7 A T 5: 144,997,037 I282N probably damaging Het
Lif A T 11: 4,269,201 Y160F probably damaging Het
Lrp1b A T 2: 41,471,122 D556E possibly damaging Het
Myom2 G T 8: 15,111,844 E954* probably null Het
Nr6a1 A T 2: 38,742,936 I171N probably damaging Het
Nup210 C A 6: 91,015,850 R1059L probably benign Het
Olfr1109 A T 2: 87,092,569 V276E probably damaging Het
Olfr225 G A 11: 59,613,803 V280M probably damaging Het
Olfr698 A G 7: 106,752,773 I205T probably benign Het
Olfr743 A G 14: 50,533,420 T3A probably benign Het
Olfr987 A T 2: 85,331,520 I126N probably damaging Het
Ostm1 T C 10: 42,698,217 V302A probably damaging Het
Oxct1 A G 15: 4,101,189 M388V possibly damaging Het
Ppp6r2 G A 15: 89,268,555 V300I possibly damaging Het
Prmt1 T C 7: 44,977,571 Y205C probably damaging Het
Slc45a4 A C 15: 73,584,423 V636G possibly damaging Het
Spata18 T A 5: 73,671,248 L270Q probably damaging Het
Stard9 G A 2: 120,705,802 D4151N probably damaging Het
Thsd7b G A 1: 129,628,909 C334Y probably damaging Het
Tmtc3 C T 10: 100,459,034 V406M probably benign Het
Ttc9c T C 19: 8,815,980 K99E probably benign Het
Vmn1r73 A G 7: 11,757,080 E275G probably damaging Het
Other mutations in Trpc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02177:Trpc5 APN X 144481238 missense probably damaging 1.00
IGL02429:Trpc5 APN X 144411799 missense probably damaging 0.98
R0494:Trpc5 UTSW X 144481396 missense probably damaging 1.00
R0702:Trpc5 UTSW X 144411739 missense probably damaging 1.00
R1756:Trpc5 UTSW X 144481226 missense probably damaging 1.00
R4065:Trpc5 UTSW X 144419598 nonsense probably null
R4066:Trpc5 UTSW X 144419598 nonsense probably null
R4067:Trpc5 UTSW X 144419598 nonsense probably null
X0013:Trpc5 UTSW X 144427584 missense probably benign 0.05
Z1176:Trpc5 UTSW X 144427746 missense probably damaging 1.00
Posted On2016-08-02