Incidental Mutation 'R4067:Trpc5'
ID 316197
Institutional Source Beutler Lab
Gene Symbol Trpc5
Ensembl Gene ENSMUSG00000041710
Gene Name transient receptor potential cation channel, subfamily C, member 5
Synonyms TRP5, Trrp5, CCE2
MMRRC Submission 040853-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4067 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 143164667-143471176 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 143202594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 545 (R545*)
Ref Sequence ENSEMBL: ENSMUSP00000049063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040184]
AlphaFold Q9QX29
Predicted Effect probably null
Transcript: ENSMUST00000040184
AA Change: R545*
SMART Domains Protein: ENSMUSP00000049063
Gene: ENSMUSG00000041710
AA Change: R545*

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
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency 98% (61/62)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025G04Rik T A 1: 151,769,150 (GRCm39) T121S possibly damaging Het
4930503E14Rik T C 14: 44,406,641 (GRCm39) E136G probably damaging Het
Adgrg4 A G X: 56,005,320 (GRCm39) N2527S probably damaging Het
Ak1 G A 2: 32,519,593 (GRCm39) S7N probably benign Het
Aktip A C 8: 91,852,466 (GRCm39) I230R possibly damaging Het
Alms1 A G 6: 85,598,271 (GRCm39) I1032M probably damaging Het
Asb4 T A 6: 5,423,651 (GRCm39) V266E probably damaging Het
Bace1 G A 9: 45,765,962 (GRCm39) V130M probably damaging Het
Bglap A T 3: 88,291,744 (GRCm39) probably benign Het
Brpf3 T C 17: 29,040,233 (GRCm39) S885P probably benign Het
Chd9 A T 8: 91,750,202 (GRCm39) I1742F possibly damaging Het
Col9a2 T A 4: 120,909,586 (GRCm39) I415N probably damaging Het
Cybc1 A T 11: 121,115,528 (GRCm39) probably null Het
Dnajc7 T C 11: 100,492,607 (GRCm39) Y38C probably benign Het
Dync2i2 A G 2: 29,922,820 (GRCm39) L309P probably benign Het
Enam A G 5: 88,651,236 (GRCm39) Y840C probably damaging Het
Etnppl T A 3: 130,425,442 (GRCm39) C416S probably damaging Het
Fgf20 A T 8: 40,732,896 (GRCm39) S181T probably benign Het
Fut8 T A 12: 77,510,835 (GRCm39) Y421N probably damaging Het
Gcn1 T G 5: 115,737,147 (GRCm39) L1295R probably damaging Het
Gm11437 A G 11: 84,055,337 (GRCm39) V93A probably benign Het
Gm9989 T C 3: 81,829,549 (GRCm39) noncoding transcript Het
Gsdmc4 A T 15: 63,765,736 (GRCm39) probably null Het
Gvin3 T A 7: 106,198,772 (GRCm39) noncoding transcript Het
Ighv10-1 A T 12: 114,442,643 (GRCm39) M114K probably benign Het
Il22b T C 10: 118,126,115 (GRCm39) I161V probably damaging Het
Itfg2 T A 6: 128,387,413 (GRCm39) probably benign Het
Kirrel1 G A 3: 86,995,774 (GRCm39) Q387* probably null Het
Klk1 C T 7: 43,876,968 (GRCm39) R24* probably null Het
Klra7 T C 6: 130,208,612 (GRCm39) probably null Het
Ltn1 T C 16: 87,213,118 (GRCm39) Y481C possibly damaging Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mrps2 A G 2: 28,359,782 (GRCm39) N213S probably benign Het
Muc4 A T 16: 32,569,869 (GRCm39) I310F possibly damaging Het
Ntrk3 T A 7: 78,167,185 (GRCm39) Y102F probably damaging Het
Or8k24 A T 2: 86,216,431 (GRCm39) C110* probably null Het
Otof C T 5: 30,556,635 (GRCm39) G282D probably damaging Het
Pcdhb2 A T 18: 37,430,367 (GRCm39) probably null Het
Pign A T 1: 105,515,703 (GRCm39) probably null Het
Plekha6 G A 1: 133,222,416 (GRCm39) E1001K probably benign Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Ppm1d A G 11: 85,236,678 (GRCm39) T486A probably benign Het
Pudp A G 18: 50,701,329 (GRCm39) F135L probably benign Het
Rd3l T G 12: 111,945,945 (GRCm39) N178T probably benign Het
Rel A C 11: 23,703,215 (GRCm39) probably null Het
Sf3a1 T A 11: 4,117,824 (GRCm39) F195L probably damaging Het
Slc30a1 G C 1: 191,639,401 (GRCm39) A95P probably damaging Het
Slc47a2 T C 11: 61,194,773 (GRCm39) T469A probably benign Het
Slc4a10 A T 2: 61,876,989 (GRCm39) M1L probably benign Het
Slc8a1 T A 17: 81,955,703 (GRCm39) D445V probably damaging Het
Slc9a7 C T X: 20,071,793 (GRCm39) G113R probably damaging Het
Spata31e5 T A 1: 28,816,712 (GRCm39) D440V probably damaging Het
Spic T C 10: 88,511,545 (GRCm39) H237R possibly damaging Het
Stk26 A G X: 49,977,910 (GRCm39) E317G probably benign Het
Tex10 A T 4: 48,459,355 (GRCm39) Y506* probably null Het
Trhde T A 10: 114,280,585 (GRCm39) R848* probably null Het
Usp24 C T 4: 106,216,286 (GRCm39) T379M possibly damaging Het
Zfp783 A T 6: 47,922,499 (GRCm39) noncoding transcript Het
Other mutations in Trpc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02177:Trpc5 APN X 143,264,234 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GGGTAGATCTGCAGATAGCTC -3'
(R):5'- GAATGGGAAATGTGGCACCC -3'

Sequencing Primer
(F):5'- CAGATAGCTCTGTTCTCTCATGAAG -3'
(R):5'- ATGTGGCACCCGACTCTGATTG -3'
Posted On 2015-05-15