Incidental Mutation 'IGL02177:Trpc5'
ID 283148
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trpc5
Ensembl Gene ENSMUSG00000041710
Gene Name transient receptor potential cation channel, subfamily C, member 5
Synonyms TRP5, Trrp5, CCE2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02177
Quality Score
Status
Chromosome X
Chromosomal Location 143164667-143471176 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 143264234 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 208 (L208I)
Ref Sequence ENSEMBL: ENSMUSP00000049063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040184] [ENSMUST00000155206] [ENSMUST00000178233]
AlphaFold Q9QX29
Predicted Effect probably damaging
Transcript: ENSMUST00000040184
AA Change: L208I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049063
Gene: ENSMUSG00000041710
AA Change: L208I

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148240
Predicted Effect probably benign
Transcript: ENSMUST00000155206
Predicted Effect probably benign
Transcript: ENSMUST00000178233
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add3 T G 19: 53,205,323 (GRCm39) Y24* probably null Het
Catsperb A G 12: 101,507,721 (GRCm39) Y496C probably damaging Het
Ccdc183 C T 2: 25,502,095 (GRCm39) E260K probably benign Het
Ccdc81 A C 7: 89,524,988 (GRCm39) M531R possibly damaging Het
Cyp3a16 T A 5: 145,386,964 (GRCm39) N342I probably benign Het
Defb43 T C 14: 63,249,266 (GRCm39) V3A probably benign Het
Dpyd T A 3: 118,858,559 (GRCm39) I591N possibly damaging Het
Dpysl5 T G 5: 30,902,622 (GRCm39) V18G probably damaging Het
Erc2 A T 14: 27,620,580 (GRCm39) M69L probably benign Het
Fam184b G T 5: 45,690,157 (GRCm39) Y817* probably null Het
Fyb1 G T 15: 6,688,047 (GRCm39) probably null Het
Gpr33 G T 12: 52,070,863 (GRCm39) Q59K probably benign Het
Heatr3 T G 8: 88,883,351 (GRCm39) F278V probably benign Het
Hectd1 A T 12: 51,819,103 (GRCm39) D1292E probably damaging Het
Herc1 A T 9: 66,341,793 (GRCm39) M1861L probably benign Het
Hspg2 T A 4: 137,242,627 (GRCm39) L614Q probably damaging Het
Itpr3 A G 17: 27,318,588 (GRCm39) R915G possibly damaging Het
Jhy T C 9: 40,809,553 (GRCm39) D646G probably damaging Het
Lrig1 T A 6: 94,640,977 (GRCm39) N76I possibly damaging Het
Macc1 A G 12: 119,429,292 (GRCm39) D814G probably damaging Het
Mapk8ip1 T C 2: 92,217,092 (GRCm39) D401G probably damaging Het
Nedd4 T A 9: 72,654,439 (GRCm39) S865T probably damaging Het
Or9s27 G A 1: 92,516,479 (GRCm39) M142I possibly damaging Het
Pi4ka A T 16: 17,136,146 (GRCm39) D937E probably benign Het
Prkcd T A 14: 30,327,844 (GRCm39) I81F probably damaging Het
Ranbp9 A T 13: 43,573,193 (GRCm39) C280S probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Scn1b T C 7: 30,816,655 (GRCm39) *219W probably null Het
Slain2 T C 5: 73,072,008 (GRCm39) V14A probably benign Het
Soat1 A T 1: 156,268,073 (GRCm39) probably benign Het
Tbc1d4 T A 14: 101,692,375 (GRCm39) M1030L possibly damaging Het
Tenm4 T C 7: 96,544,869 (GRCm39) V2295A probably benign Het
Tmem135 A G 7: 88,987,661 (GRCm39) Y46H probably damaging Het
Tnfsf18 A T 1: 161,331,354 (GRCm39) D168V probably damaging Het
Trdn T C 10: 33,015,169 (GRCm39) V41A probably damaging Het
Vmn1r50 T C 6: 90,085,139 (GRCm39) Y295H probably benign Het
Vmn2r18 T G 5: 151,510,274 (GRCm39) H33P possibly damaging Het
Vmn2r84 T C 10: 130,227,881 (GRCm39) I118M probably benign Het
Other mutations in Trpc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02429:Trpc5 APN X 143,194,795 (GRCm39) missense probably damaging 0.98
IGL03195:Trpc5 APN X 143,165,724 (GRCm39) missense probably benign
R0494:Trpc5 UTSW X 143,264,392 (GRCm39) missense probably damaging 1.00
R0702:Trpc5 UTSW X 143,194,735 (GRCm39) missense probably damaging 1.00
R1756:Trpc5 UTSW X 143,264,222 (GRCm39) missense probably damaging 1.00
R4065:Trpc5 UTSW X 143,202,594 (GRCm39) nonsense probably null
R4066:Trpc5 UTSW X 143,202,594 (GRCm39) nonsense probably null
R4067:Trpc5 UTSW X 143,202,594 (GRCm39) nonsense probably null
X0013:Trpc5 UTSW X 143,210,580 (GRCm39) missense probably benign 0.05
Z1176:Trpc5 UTSW X 143,210,742 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16