Incidental Mutation 'IGL02177:Trpc5'
ID283148
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 #IGL02177
Quality Score
Status
ChromosomeX
Chromosomal Location144381671-144688180 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 144481238 bp
ZygosityHeterozygous
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]
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: 53,216,892 Y24* probably null Het
Catsperb A G 12: 101,541,462 Y496C probably damaging Het
Ccdc183 C T 2: 25,612,083 E260K probably benign Het
Ccdc81 A C 7: 89,875,780 M531R possibly damaging Het
Cyp3a16 T A 5: 145,450,154 N342I probably benign Het
Defb43 T C 14: 63,011,817 V3A probably benign Het
Dpyd T A 3: 119,064,910 I591N possibly damaging Het
Dpysl5 T G 5: 30,745,278 V18G probably damaging Het
Erc2 A T 14: 27,898,623 M69L probably benign Het
Fam184b G T 5: 45,532,815 Y817* probably null Het
Fyb G T 15: 6,658,566 probably null Het
Gpr33 G T 12: 52,024,080 Q59K probably benign Het
Heatr3 T G 8: 88,156,723 F278V probably benign Het
Hectd1 A T 12: 51,772,320 D1292E probably damaging Het
Herc1 A T 9: 66,434,511 M1861L probably benign Het
Hspg2 T A 4: 137,515,316 L614Q probably damaging Het
Itpr3 A G 17: 27,099,614 R915G possibly damaging Het
Jhy T C 9: 40,898,257 D646G probably damaging Het
Lrig1 T A 6: 94,663,996 N76I possibly damaging Het
Macc1 A G 12: 119,465,557 D814G probably damaging Het
Mapk8ip1 T C 2: 92,386,747 D401G probably damaging Het
Nedd4 T A 9: 72,747,157 S865T probably damaging Het
Olfr1412 G A 1: 92,588,757 M142I possibly damaging Het
Pi4ka A T 16: 17,318,282 D937E probably benign Het
Prkcd T A 14: 30,605,887 I81F probably damaging Het
Ranbp9 A T 13: 43,419,717 C280S probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Scn1b T C 7: 31,117,230 *219W probably null Het
Slain2 T C 5: 72,914,665 V14A probably benign Het
Soat1 A T 1: 156,440,503 probably benign Het
Tbc1d4 T A 14: 101,454,939 M1030L possibly damaging Het
Tenm4 T C 7: 96,895,662 V2295A probably benign Het
Tmem135 A G 7: 89,338,453 Y46H probably damaging Het
Tnfsf18 A T 1: 161,503,785 D168V probably damaging Het
Trdn T C 10: 33,139,173 V41A probably damaging Het
Vmn1r50 T C 6: 90,108,157 Y295H probably benign Het
Vmn2r18 T G 5: 151,586,809 H33P possibly damaging Het
Vmn2r84 T C 10: 130,392,012 I118M probably benign Het
Other mutations in Trpc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02429:Trpc5 APN X 144411799 missense probably damaging 0.98
IGL03195:Trpc5 APN X 144382728 missense probably benign
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 On2015-04-16