Incidental Mutation 'R7265:Trpc1'
ID 564879
Institutional Source Beutler Lab
Gene Symbol Trpc1
Ensembl Gene ENSMUSG00000032839
Gene Name transient receptor potential cation channel, subfamily C, member 1
Synonyms Mtrp1, Trp1, Trrp1
MMRRC Submission 045355-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R7265 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 95587135-95632428 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95590328 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 710 (M710V)
Ref Sequence ENSEMBL: ENSMUSP00000139672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053785] [ENSMUST00000189137] [ENSMUST00000190497] [ENSMUST00000190604]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000053785
AA Change: M676V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000057640
Gene: ENSMUSG00000032839
AA Change: M676V

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
low complexity region 31 44 N/A INTRINSIC
ANK 62 93 1.41e2 SMART
ANK 99 129 2.11e1 SMART
ANK 174 203 1.33e2 SMART
Pfam:TRP_2 209 271 2.6e-27 PFAM
transmembrane domain 367 386 N/A INTRINSIC
Pfam:Ion_trans 407 673 5.9e-17 PFAM
coiled coil region 770 794 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000189137
AA Change: M710V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139672
Gene: ENSMUSG00000032839
AA Change: M710V

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
low complexity region 31 44 N/A INTRINSIC
ANK 62 93 1.41e2 SMART
ANK 99 129 2.11e1 SMART
ANK 174 203 1.33e2 SMART
Pfam:TRP_2 209 271 1.8e-29 PFAM
transmembrane domain 367 386 N/A INTRINSIC
transmembrane domain 407 424 N/A INTRINSIC
Pfam:Ion_trans 441 661 1.2e-21 PFAM
coiled coil region 770 794 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000190497
SMART Domains Protein: ENSMUSP00000140550
Gene: ENSMUSG00000032839

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
low complexity region 31 44 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000190604
SMART Domains Protein: ENSMUSP00000139577
Gene: ENSMUSG00000032839

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
low complexity region 31 44 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: Mice homozygous for a knock-out allele exhibit increased body weight and a severe loss of salivary gland fluid secretion due to attenuation of store-operated Ca2+ currents. Surprisingly, no abnormalities are seen in store-operated or mechanosensitive cation channels in vascular smooth muscle cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb3 A G 11: 30,948,495 (GRCm39) E57G probably benign Het
B3glct A G 5: 149,632,785 (GRCm39) D45G probably benign Het
BC034090 C A 1: 155,101,073 (GRCm39) C397F probably damaging Het
Bicd1 A G 6: 149,415,374 (GRCm39) K696E probably damaging Het
Btnl4 C T 17: 34,694,868 (GRCm39) C15Y probably benign Het
Cabin1 T C 10: 75,557,257 (GRCm39) N300S Het
Chia1 T A 3: 106,036,239 (GRCm39) L273Q probably damaging Het
Coq2 A G 5: 100,808,136 (GRCm39) S222P possibly damaging Het
Dgkb T C 12: 38,234,931 (GRCm39) V432A possibly damaging Het
Dpp3 A G 19: 4,973,797 (GRCm39) F92S probably damaging Het
Elapor2 T C 5: 9,496,975 (GRCm39) V813A possibly damaging Het
Emcn T C 3: 137,122,839 (GRCm39) S183P probably damaging Het
Emcn T A 3: 137,124,837 (GRCm39) W217R probably damaging Het
Enpp2 A C 15: 54,773,429 (GRCm39) probably null Het
Epb41 T C 4: 131,695,145 (GRCm39) E14G unknown Het
Fhip1b G T 7: 105,033,432 (GRCm39) R609S probably benign Het
Grk4 A G 5: 34,873,608 (GRCm39) R225G probably damaging Het
Insl6 A T 19: 29,298,945 (GRCm39) W156R possibly damaging Het
Ints3 A T 3: 90,311,290 (GRCm39) probably null Het
Jarid2 G A 13: 45,055,748 (GRCm39) G318D probably benign Het
Kif16b A T 2: 142,556,650 (GRCm39) L596H probably damaging Het
Lctl T A 9: 64,034,203 (GRCm39) Y281N probably damaging Het
Letm1 A T 5: 33,935,992 (GRCm39) C34S possibly damaging Het
Lrrc32 T C 7: 98,148,644 (GRCm39) S475P probably damaging Het
Lrrc37a T A 11: 103,389,767 (GRCm39) D1886V probably benign Het
Macf1 A T 4: 123,301,670 (GRCm39) I944K probably benign Het
Mark4 T C 7: 19,185,650 (GRCm39) D28G probably benign Het
Mecom C A 3: 30,034,282 (GRCm39) A465S possibly damaging Het
Muc16 A G 9: 18,567,768 (GRCm39) S1584P unknown Het
Mycbp2 A G 14: 103,434,679 (GRCm39) probably null Het
Myo18b G A 5: 112,959,938 (GRCm39) R1372W probably damaging Het
Myo1c T C 11: 75,560,616 (GRCm39) I706T possibly damaging Het
Myo1g T C 11: 6,460,933 (GRCm39) T704A possibly damaging Het
Nwd1 A G 8: 73,419,556 (GRCm39) K914E probably benign Het
Or5ac20 T A 16: 59,104,287 (GRCm39) D191V probably damaging Het
Or8b101 A T 9: 38,020,227 (GRCm39) I77L possibly damaging Het
Or8k23 C T 2: 86,186,088 (GRCm39) V213I probably benign Het
Otub2 C T 12: 103,366,480 (GRCm39) S99L probably damaging Het
Pak5 G A 2: 135,943,105 (GRCm39) S345L probably benign Het
Pcdhb20 A T 18: 37,638,616 (GRCm39) I381F possibly damaging Het
Pcdhga7 A G 18: 37,849,969 (GRCm39) T659A probably damaging Het
Phf8-ps G A 17: 33,285,971 (GRCm39) T277I probably damaging Het
Pik3c2a T A 7: 115,987,321 (GRCm39) K533N probably damaging Het
Pkd1l1 T A 11: 8,879,402 (GRCm39) Q933L Het
Ppp4r3a A T 12: 101,019,770 (GRCm39) M395K possibly damaging Het
Pramel11 C A 4: 143,621,991 (GRCm39) V455L probably benign Het
Ptpn20 A G 14: 33,336,481 (GRCm39) T107A probably benign Het
Scaf8 T A 17: 3,227,900 (GRCm39) D376E unknown Het
Scn11a C A 9: 119,644,331 (GRCm39) C143F probably damaging Het
Sctr G A 1: 119,949,955 (GRCm39) R48Q probably benign Het
Sec13 A T 6: 113,712,097 (GRCm39) Y79* probably null Het
Sez6 T A 11: 77,853,691 (GRCm39) I287N probably damaging Het
Slc52a3 T A 2: 151,846,336 (GRCm39) I99K possibly damaging Het
Slco4c1 T G 1: 96,799,518 (GRCm39) H106P probably damaging Het
Tada2b A G 5: 36,633,952 (GRCm39) Y209H probably damaging Het
Tas1r2 T A 4: 139,396,963 (GRCm39) D796E probably benign Het
Tdrd12 A T 7: 35,187,147 (GRCm39) M581K Het
Thnsl1 A G 2: 21,217,269 (GRCm39) E341G probably damaging Het
Tlk2 C T 11: 105,075,070 (GRCm39) R11* probably null Het
Tmco6 T C 18: 36,872,396 (GRCm39) probably null Het
Trmt44 A T 5: 35,721,647 (GRCm39) H505Q probably benign Het
Ttc21b T C 2: 66,040,517 (GRCm39) E858G possibly damaging Het
Twsg1 C T 17: 66,236,782 (GRCm39) D83N possibly damaging Het
Umod G T 7: 119,065,296 (GRCm39) Q578K probably benign Het
Vmn2r6 T C 3: 64,464,195 (GRCm39) N213S probably benign Het
Vmn2r88 G A 14: 51,655,776 (GRCm39) V662I Het
Zfp414 C A 17: 33,850,253 (GRCm39) D217E probably benign Het
Other mutations in Trpc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01068:Trpc1 APN 9 95,608,547 (GRCm39) missense probably damaging 1.00
IGL02094:Trpc1 APN 9 95,625,334 (GRCm39) missense probably damaging 1.00
IGL02412:Trpc1 APN 9 95,618,914 (GRCm39) missense probably damaging 1.00
IGL02494:Trpc1 APN 9 95,590,360 (GRCm39) missense probably damaging 1.00
IGL02943:Trpc1 APN 9 95,590,906 (GRCm39) splice site probably benign
IGL03025:Trpc1 APN 9 95,592,313 (GRCm39) missense probably damaging 1.00
IGL03221:Trpc1 APN 9 95,588,953 (GRCm39) missense probably damaging 1.00
Enlarged UTSW 9 95,603,524 (GRCm39) critical splice acceptor site probably null
luxus UTSW 9 95,603,185 (GRCm39) critical splice donor site probably null
Magnified UTSW 9 95,608,490 (GRCm39) missense probably damaging 1.00
PIT4581001:Trpc1 UTSW 9 95,618,974 (GRCm39) missense probably benign 0.21
R0034:Trpc1 UTSW 9 95,631,814 (GRCm39) missense probably damaging 0.98
R1973:Trpc1 UTSW 9 95,605,308 (GRCm39) missense probably benign
R2033:Trpc1 UTSW 9 95,588,896 (GRCm39) missense probably damaging 0.99
R2117:Trpc1 UTSW 9 95,599,637 (GRCm39) missense probably damaging 1.00
R2262:Trpc1 UTSW 9 95,588,986 (GRCm39) missense probably damaging 1.00
R2910:Trpc1 UTSW 9 95,631,895 (GRCm39) missense probably benign 0.00
R2918:Trpc1 UTSW 9 95,605,182 (GRCm39) missense probably damaging 1.00
R3156:Trpc1 UTSW 9 95,603,185 (GRCm39) critical splice donor site probably null
R3427:Trpc1 UTSW 9 95,614,249 (GRCm39) missense probably benign 0.12
R4093:Trpc1 UTSW 9 95,588,918 (GRCm39) missense probably benign 0.12
R4384:Trpc1 UTSW 9 95,614,161 (GRCm39) missense probably benign 0.13
R4787:Trpc1 UTSW 9 95,603,468 (GRCm39) missense probably benign 0.02
R5327:Trpc1 UTSW 9 95,603,524 (GRCm39) critical splice acceptor site probably null
R5576:Trpc1 UTSW 9 95,603,377 (GRCm39) missense probably damaging 0.97
R6320:Trpc1 UTSW 9 95,603,303 (GRCm39) missense probably damaging 1.00
R6499:Trpc1 UTSW 9 95,608,490 (GRCm39) missense probably damaging 1.00
R6714:Trpc1 UTSW 9 95,605,326 (GRCm39) missense probably damaging 1.00
R7179:Trpc1 UTSW 9 95,603,197 (GRCm39) missense possibly damaging 0.82
R8169:Trpc1 UTSW 9 95,592,323 (GRCm39) nonsense probably null
R8288:Trpc1 UTSW 9 95,603,434 (GRCm39) missense probably damaging 1.00
R8342:Trpc1 UTSW 9 95,608,601 (GRCm39) missense probably damaging 1.00
R9276:Trpc1 UTSW 9 95,590,288 (GRCm39) missense probably benign 0.13
R9317:Trpc1 UTSW 9 95,603,275 (GRCm39) missense probably damaging 1.00
R9509:Trpc1 UTSW 9 95,625,249 (GRCm39) critical splice donor site probably null
R9529:Trpc1 UTSW 9 95,592,250 (GRCm39) missense probably damaging 1.00
R9784:Trpc1 UTSW 9 95,599,646 (GRCm39) missense possibly damaging 0.92
R9800:Trpc1 UTSW 9 95,625,303 (GRCm39) missense probably damaging 1.00
X0026:Trpc1 UTSW 9 95,614,097 (GRCm39) missense probably benign 0.36
Z1176:Trpc1 UTSW 9 95,605,269 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGTGAAGCATCTGAGCTGGG -3'
(R):5'- ATGCATTCAGCTTGTGTCCG -3'

Sequencing Primer
(F):5'- GTTCCATGCCAGCTACATAGTAAG -3'
(R):5'- AGCTTGTGTCCGTTCTTATTTTATC -3'
Posted On 2019-06-26