Incidental Mutation 'R0611:Trpc7'
ID 54751
Institutional Source Beutler Lab
Gene Symbol Trpc7
Ensembl Gene ENSMUSG00000021541
Gene Name transient receptor potential cation channel, subfamily C, member 7
Synonyms TRP7, Trrp8
MMRRC Submission 038800-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R0611 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 56920911-57043778 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 57035636 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 99 (K99M)
Ref Sequence ENSEMBL: ENSMUSP00000133305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022023] [ENSMUST00000109871] [ENSMUST00000151918] [ENSMUST00000173817] [ENSMUST00000174457]
AlphaFold Q9WVC5
Predicted Effect possibly damaging
Transcript: ENSMUST00000022023
AA Change: K99M

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022023
Gene: ENSMUSG00000021541
AA Change: K99M

DomainStartEndE-ValueType
ANK 42 71 1.53e3 SMART
ANK 77 105 1.97e1 SMART
ANK 163 192 1.32e0 SMART
Pfam:TRP_2 198 260 6e-28 PFAM
transmembrane domain 352 374 N/A INTRINSIC
Pfam:Ion_trans 387 684 2.4e-34 PFAM
Pfam:PKD_channel 427 679 5.5e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109871
AA Change: K99M

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105497
Gene: ENSMUSG00000021541
AA Change: K99M

DomainStartEndE-ValueType
ANK 42 71 1.53e3 SMART
ANK 77 105 1.97e1 SMART
ANK 163 192 1.32e0 SMART
Pfam:TRP_2 198 260 1.1e-31 PFAM
transmembrane domain 352 374 N/A INTRINSIC
transmembrane domain 389 406 N/A INTRINSIC
Pfam:PKD_channel 427 679 1.6e-13 PFAM
Pfam:Ion_trans 441 672 7e-36 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000151918
AA Change: K99M

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000119809
Gene: ENSMUSG00000021541
AA Change: K99M

DomainStartEndE-ValueType
ANK 42 71 1.53e3 SMART
ANK 77 105 1.97e1 SMART
ANK 163 192 1.32e0 SMART
Pfam:TRP_2 198 260 4.6e-32 PFAM
transmembrane domain 352 374 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000173067
AA Change: K98M
SMART Domains Protein: ENSMUSP00000134481
Gene: ENSMUSG00000021541
AA Change: K98M

DomainStartEndE-ValueType
ANK 42 71 1.53e3 SMART
ANK 77 105 1.97e1 SMART
ANK 163 192 1.32e0 SMART
Pfam:TRP_2 198 260 5.1e-32 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000173466
AA Change: K98M
SMART Domains Protein: ENSMUSP00000134285
Gene: ENSMUSG00000021541
AA Change: K98M

DomainStartEndE-ValueType
ANK 42 71 1.53e3 SMART
ANK 77 105 1.97e1 SMART
ANK 163 192 1.32e0 SMART
Pfam:TRP_2 198 260 9.5e-32 PFAM
transmembrane domain 352 374 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000173513
AA Change: K98M
SMART Domains Protein: ENSMUSP00000134662
Gene: ENSMUSG00000021541
AA Change: K98M

DomainStartEndE-ValueType
ANK 42 71 1.53e3 SMART
ANK 77 105 1.97e1 SMART
ANK 163 192 1.32e0 SMART
Pfam:TRP_2 198 260 2.5e-31 PFAM
Pfam:PKD_channel 311 563 2.6e-13 PFAM
Pfam:Ion_trans 325 556 1.1e-35 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000173817
AA Change: K99M

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133411
Gene: ENSMUSG00000021541
AA Change: K99M

DomainStartEndE-ValueType
ANK 42 71 1.53e3 SMART
ANK 77 105 1.97e1 SMART
ANK 163 192 1.32e0 SMART
Pfam:TRP_2 198 260 2.7e-31 PFAM
transmembrane domain 291 313 N/A INTRINSIC
transmembrane domain 328 345 N/A INTRINSIC
Pfam:PKD_channel 366 618 3.7e-13 PFAM
Pfam:Ion_trans 380 611 1.2e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000174457
AA Change: K99M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133305
Gene: ENSMUSG00000021541
AA Change: K99M

DomainStartEndE-ValueType
ANK 42 71 1.53e3 SMART
ANK 77 105 1.97e1 SMART
ANK 163 192 1.32e0 SMART
Pfam:TRP_2 198 260 2.7e-31 PFAM
Pfam:PKD_channel 372 624 3.8e-13 PFAM
Pfam:Ion_trans 386 617 1.3e-35 PFAM
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a member of the transient receptor potential channel family of proteins, which form six-transmembrane cation-permeable channels that are calcium permeant. Knock out mice are viable but display a reduction in the gamma wave activity that precedes seizure induction in response to a muscrarinic agonist, suggesting a functional role for this protein in initiation of seizures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal eye physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T A 7: 119,851,479 (GRCm39) M819K possibly damaging Het
Adamtsl3 T G 7: 82,178,120 (GRCm39) C528G probably damaging Het
Akap9 A G 5: 4,004,870 (GRCm39) K148E probably benign Het
Akr1b1 A T 6: 34,286,577 (GRCm39) D225E probably benign Het
Alms1 C A 6: 85,655,653 (GRCm39) Q2931K possibly damaging Het
Ano3 T C 2: 110,715,346 (GRCm39) K31E possibly damaging Het
Cdc37 A G 9: 21,053,537 (GRCm39) I242T probably damaging Het
Celsr1 T A 15: 85,816,524 (GRCm39) K1806N possibly damaging Het
Clpb T A 7: 101,436,956 (GRCm39) I707N possibly damaging Het
Cntnap2 A T 6: 47,072,483 (GRCm39) Y1017F possibly damaging Het
Creb3l2 A T 6: 37,311,416 (GRCm39) S458T probably benign Het
Ctnnd2 C A 15: 31,009,230 (GRCm39) T1109K possibly damaging Het
Dcaf10 T A 4: 45,373,011 (GRCm39) L425Q probably damaging Het
Dlec1 A G 9: 118,941,167 (GRCm39) E239G probably benign Het
Dnah2 T C 11: 69,390,020 (GRCm39) K742E probably damaging Het
Dsp A T 13: 38,371,717 (GRCm39) R889S probably damaging Het
Dync1h1 T A 12: 110,599,222 (GRCm39) M1859K probably damaging Het
Efcab7 T A 4: 99,758,886 (GRCm39) N361K probably damaging Het
Eps8l2 T C 7: 140,935,646 (GRCm39) V139A probably damaging Het
Fads3 T G 19: 10,019,200 (GRCm39) H35Q probably damaging Het
Fam163b C A 2: 27,003,583 (GRCm39) V24F probably damaging Het
Gm14496 A T 2: 181,636,904 (GRCm39) T121S probably benign Het
Gm4799 C T 10: 82,790,563 (GRCm39) noncoding transcript Het
Gm7168 A T 17: 14,169,797 (GRCm39) D388V probably benign Het
Gmeb1 A T 4: 131,953,386 (GRCm39) L460* probably null Het
Gpc6 T G 14: 118,212,430 (GRCm39) F534V probably null Het
Hectd3 A G 4: 116,853,241 (GRCm39) D156G possibly damaging Het
Itga6 T C 2: 71,650,404 (GRCm39) I150T possibly damaging Het
Kansl1 A G 11: 104,229,012 (GRCm39) M863T probably benign Het
Kcnb2 A T 1: 15,780,664 (GRCm39) Y512F probably benign Het
Klhdc2 A T 12: 69,347,053 (GRCm39) M73L probably benign Het
Ktn1 A G 14: 47,932,073 (GRCm39) T667A probably benign Het
Lgsn A C 1: 31,242,736 (GRCm39) I273L probably benign Het
Lilra5 A G 7: 4,245,232 (GRCm39) D292G probably benign Het
Mrps27 C T 13: 99,541,582 (GRCm39) R229C probably damaging Het
Muc5b T G 7: 141,416,173 (GRCm39) S3040A probably benign Het
Nat14 T C 7: 4,926,275 (GRCm39) S7P probably damaging Het
Nfia A G 4: 97,671,694 (GRCm39) I135V possibly damaging Het
Nkd1 G A 8: 89,248,944 (GRCm39) A30T probably damaging Het
Nup205 A G 6: 35,202,903 (GRCm39) D1370G probably null Het
Or1j15 C G 2: 36,459,568 (GRCm39) probably null Het
Or4k15c G A 14: 50,321,310 (GRCm39) T276I probably damaging Het
Or51k2 T C 7: 103,596,400 (GRCm39) L209P probably damaging Het
Or5p79 T A 7: 108,221,494 (GRCm39) N158K possibly damaging Het
Or8s10 T C 15: 98,336,168 (GRCm39) S273P possibly damaging Het
Orc1 C T 4: 108,459,229 (GRCm39) A466V probably benign Het
Otud7a T A 7: 63,385,638 (GRCm39) D367E possibly damaging Het
Pcdhb4 A G 18: 37,441,263 (GRCm39) Y191C probably damaging Het
Pclo T C 5: 14,762,828 (GRCm39) V3767A unknown Het
Pclo T C 5: 14,728,789 (GRCm39) probably benign Het
Prmt1 A T 7: 44,628,225 (GRCm39) probably null Het
Ralgapa1 A G 12: 55,842,483 (GRCm39) F62S probably damaging Het
Rangrf T C 11: 68,863,518 (GRCm39) S163G probably benign Het
Rgs12 C A 5: 35,176,804 (GRCm39) A65E probably damaging Het
Rrbp1 T C 2: 143,830,436 (GRCm39) N577S probably damaging Het
Septin11 A G 5: 93,315,393 (GRCm39) H374R probably damaging Het
Serpina5 T G 12: 104,070,046 (GRCm39) N314K probably benign Het
Sgce T C 6: 4,689,621 (GRCm39) D395G probably damaging Het
Slc26a9 A T 1: 131,690,499 (GRCm39) N501I probably damaging Het
Slc9c1 A G 16: 45,401,965 (GRCm39) D784G possibly damaging Het
Snapc2 A G 8: 4,305,676 (GRCm39) D207G probably benign Het
Stard9 G T 2: 120,529,738 (GRCm39) M1998I probably benign Het
Stk38 A C 17: 29,194,907 (GRCm39) F280V possibly damaging Het
Tas2r126 A G 6: 42,412,025 (GRCm39) K186R probably damaging Het
Tdp1 A C 12: 99,875,970 (GRCm39) D307A probably benign Het
Tead2 A G 7: 44,866,674 (GRCm39) D11G probably damaging Het
Tmco4 C A 4: 138,747,383 (GRCm39) L211I probably damaging Het
Tmem183a A G 1: 134,280,115 (GRCm39) F255S probably damaging Het
Tmem87a C T 2: 120,205,929 (GRCm39) G349S possibly damaging Het
Tpte G A 8: 22,826,549 (GRCm39) E377K possibly damaging Het
Trim32 T C 4: 65,531,893 (GRCm39) F150S possibly damaging Het
Ttc22 A G 4: 106,491,381 (GRCm39) K195E probably damaging Het
Txn2 G A 15: 77,811,917 (GRCm39) P7S probably damaging Het
Ubxn2a G A 12: 4,930,700 (GRCm39) T220I probably damaging Het
Ufd1 A G 16: 18,633,626 (GRCm39) N17S possibly damaging Het
Unc13a A G 8: 72,102,509 (GRCm39) S958P probably damaging Het
Vmn1r202 T A 13: 22,685,824 (GRCm39) M198L probably damaging Het
Vmn2r84 G A 10: 130,221,991 (GRCm39) A743V probably damaging Het
Washc5 A G 15: 59,213,007 (GRCm39) F891S probably damaging Het
Zfp708 T C 13: 67,218,375 (GRCm39) T495A probably benign Het
Zfp81 A G 17: 33,553,593 (GRCm39) I407T probably benign Het
Zswim5 T C 4: 116,843,874 (GRCm39) probably null Het
Other mutations in Trpc7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00538:Trpc7 APN 13 56,921,622 (GRCm39) missense possibly damaging 0.64
IGL00809:Trpc7 APN 13 56,970,301 (GRCm39) missense probably benign 0.00
IGL01011:Trpc7 APN 13 56,952,353 (GRCm39) missense probably damaging 1.00
IGL01517:Trpc7 APN 13 57,008,878 (GRCm39) missense probably damaging 1.00
IGL01824:Trpc7 APN 13 56,937,535 (GRCm39) nonsense probably null
IGL02055:Trpc7 APN 13 57,035,357 (GRCm39) missense probably benign 0.13
IGL02267:Trpc7 APN 13 57,008,743 (GRCm39) missense probably damaging 1.00
IGL02323:Trpc7 APN 13 56,931,564 (GRCm39) missense possibly damaging 0.91
IGL02451:Trpc7 APN 13 56,970,274 (GRCm39) missense probably damaging 0.98
IGL02635:Trpc7 APN 13 56,923,981 (GRCm39) missense probably damaging 1.00
IGL03335:Trpc7 APN 13 57,035,504 (GRCm39) missense probably damaging 1.00
PIT4305001:Trpc7 UTSW 13 57,035,321 (GRCm39) missense probably benign 0.00
R0217:Trpc7 UTSW 13 56,937,581 (GRCm39) nonsense probably null
R0919:Trpc7 UTSW 13 56,970,462 (GRCm39) splice site probably benign
R1235:Trpc7 UTSW 13 57,035,352 (GRCm39) missense probably damaging 1.00
R1751:Trpc7 UTSW 13 56,923,956 (GRCm39) missense probably damaging 1.00
R4324:Trpc7 UTSW 13 57,035,169 (GRCm39) missense probably damaging 0.99
R4649:Trpc7 UTSW 13 57,035,367 (GRCm39) missense probably damaging 1.00
R4731:Trpc7 UTSW 13 56,952,366 (GRCm39) missense probably damaging 1.00
R5379:Trpc7 UTSW 13 56,952,363 (GRCm39) missense probably damaging 1.00
R5834:Trpc7 UTSW 13 56,923,971 (GRCm39) missense probably damaging 1.00
R5985:Trpc7 UTSW 13 56,958,358 (GRCm39) missense probably damaging 0.96
R6244:Trpc7 UTSW 13 56,921,705 (GRCm39) missense probably damaging 1.00
R6599:Trpc7 UTSW 13 56,958,193 (GRCm39) splice site probably null
R6778:Trpc7 UTSW 13 56,952,500 (GRCm39) missense probably damaging 1.00
R7140:Trpc7 UTSW 13 56,937,487 (GRCm39) nonsense probably null
R7150:Trpc7 UTSW 13 56,931,509 (GRCm39) missense probably benign 0.00
R7156:Trpc7 UTSW 13 56,937,579 (GRCm39) missense possibly damaging 0.61
R7238:Trpc7 UTSW 13 56,974,710 (GRCm39) missense probably benign 0.17
R7716:Trpc7 UTSW 13 56,937,573 (GRCm39) missense probably damaging 1.00
R7739:Trpc7 UTSW 13 56,921,579 (GRCm39) makesense probably null
R8114:Trpc7 UTSW 13 56,952,411 (GRCm39) missense probably benign 0.14
R8143:Trpc7 UTSW 13 56,930,362 (GRCm39) missense probably benign 0.01
R8179:Trpc7 UTSW 13 57,035,693 (GRCm39) missense probably damaging 1.00
R8204:Trpc7 UTSW 13 56,931,609 (GRCm39) missense probably benign 0.06
R8262:Trpc7 UTSW 13 56,937,602 (GRCm39) missense probably benign 0.32
R8325:Trpc7 UTSW 13 56,952,524 (GRCm39) missense probably damaging 1.00
R8353:Trpc7 UTSW 13 56,970,372 (GRCm39) missense probably benign 0.04
R8414:Trpc7 UTSW 13 56,970,282 (GRCm39) missense probably benign 0.01
R8453:Trpc7 UTSW 13 56,970,372 (GRCm39) missense probably benign 0.04
R8815:Trpc7 UTSW 13 56,970,312 (GRCm39) missense possibly damaging 0.73
R8867:Trpc7 UTSW 13 57,008,746 (GRCm39) missense probably benign 0.00
R8990:Trpc7 UTSW 13 56,952,485 (GRCm39) missense possibly damaging 0.91
R9038:Trpc7 UTSW 13 57,035,886 (GRCm39) missense probably benign 0.00
R9444:Trpc7 UTSW 13 56,923,968 (GRCm39) missense possibly damaging 0.79
Z1177:Trpc7 UTSW 13 56,970,245 (GRCm39) missense probably damaging 0.99
Z1177:Trpc7 UTSW 13 56,958,257 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACCCTTGAGCAGCAAGATATGCAC -3'
(R):5'- GGCTGAGTATGGCAACATACCAGTG -3'

Sequencing Primer
(F):5'- AATCTCATACTCCTGGCAGTGG -3'
(R):5'- TATGGCAACATACCAGTGGTCAG -3'
Posted On 2013-07-11