Incidental Mutation 'R0217:Trpc7'
ID 33634
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 038466-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R0217 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 13
Chromosomal Location 56920911-57043778 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 56937581 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 570 (W570*)
Ref Sequence ENSEMBL: ENSMUSP00000133305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022023] [ENSMUST00000109871] [ENSMUST00000151918] [ENSMUST00000174457] [ENSMUST00000173817]
AlphaFold Q9WVC5
Predicted Effect probably null
Transcript: ENSMUST00000022023
AA Change: W625*
SMART Domains Protein: ENSMUSP00000022023
Gene: ENSMUSG00000021541
AA Change: W625*

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 null
Transcript: ENSMUST00000109871
AA Change: W625*
SMART Domains Protein: ENSMUSP00000105497
Gene: ENSMUSG00000021541
AA Change: W625*

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 probably benign
Transcript: ENSMUST00000151918
SMART Domains Protein: ENSMUSP00000119809
Gene: ENSMUSG00000021541

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 probably benign
Transcript: ENSMUST00000173067
SMART Domains Protein: ENSMUSP00000134481
Gene: ENSMUSG00000021541

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 probably benign
Transcript: ENSMUST00000173466
SMART Domains Protein: ENSMUSP00000134285
Gene: ENSMUSG00000021541

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 probably null
Transcript: ENSMUST00000173513
AA Change: W508*
SMART Domains Protein: ENSMUSP00000134662
Gene: ENSMUSG00000021541
AA Change: W508*

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 probably null
Transcript: ENSMUST00000174457
AA Change: W570*
SMART Domains Protein: ENSMUSP00000133305
Gene: ENSMUSG00000021541
AA Change: W570*

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
Predicted Effect probably null
Transcript: ENSMUST00000173817
AA Change: W564*
SMART Domains Protein: ENSMUSP00000133411
Gene: ENSMUSG00000021541
AA Change: W564*

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
Meta Mutation Damage Score 0.9717 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 100% (62/62)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acte1 T C 7: 143,447,956 (GRCm39) probably benign Het
Actr3 A G 1: 125,335,150 (GRCm39) probably benign Het
Adamts13 A G 2: 26,886,933 (GRCm39) probably benign Het
Afap1l1 A G 18: 61,879,940 (GRCm39) V310A probably damaging Het
Alms1 T A 6: 85,599,912 (GRCm39) S2048R probably damaging Het
Aspm T A 1: 139,385,618 (GRCm39) S421T possibly damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Ccdc150 T G 1: 54,339,589 (GRCm39) S478A possibly damaging Het
Ccnyl1 T A 1: 64,752,257 (GRCm39) probably benign Het
Cdc23 T C 18: 34,784,718 (GRCm39) T15A unknown Het
Cdk19 C T 10: 40,352,254 (GRCm39) probably benign Het
Comp A C 8: 70,831,558 (GRCm39) D420A probably damaging Het
Ctnnal1 T C 4: 56,813,230 (GRCm39) H667R probably benign Het
Cyp20a1 C A 1: 60,382,625 (GRCm39) probably benign Het
Eci3 A C 13: 35,132,072 (GRCm39) S259A probably benign Het
Fcnb T C 2: 27,969,689 (GRCm39) D126G probably benign Het
Foxk1 T C 5: 142,387,649 (GRCm39) M124T possibly damaging Het
Gm12790 T C 4: 101,825,231 (GRCm39) Y61C probably damaging Het
Hmgcr A C 13: 96,788,488 (GRCm39) I777S probably damaging Het
Hsdl2 A G 4: 59,597,311 (GRCm39) E100G probably damaging Het
Itgb2 G T 10: 77,384,370 (GRCm39) probably benign Het
Jak2 T A 19: 29,274,050 (GRCm39) probably null Het
Lrba T C 3: 86,550,029 (GRCm39) S2333P probably damaging Het
Man1a2 A G 3: 100,524,353 (GRCm39) L365P possibly damaging Het
Map2k5 A T 9: 63,164,257 (GRCm39) probably null Het
Mcc C G 18: 44,652,583 (GRCm39) probably benign Het
Megf8 T A 7: 25,063,504 (GRCm39) L2620Q probably damaging Het
Nf1 A T 11: 79,319,400 (GRCm39) probably benign Het
Or11h7 A G 14: 50,891,552 (GRCm39) N286S probably damaging Het
Or1e30 T A 11: 73,678,214 (GRCm39) V150E possibly damaging Het
Or5p1 C A 7: 107,916,505 (GRCm39) H135N probably benign Het
Pank3 T A 11: 35,668,555 (GRCm39) D181E probably benign Het
Pip5k1a A G 3: 94,981,302 (GRCm39) probably null Het
Plag1 A C 4: 3,904,379 (GRCm39) S271A probably benign Het
Plxna2 T A 1: 194,326,906 (GRCm39) I280N probably damaging Het
Polr1a T C 6: 71,940,687 (GRCm39) V1007A probably benign Het
Ppm1h T A 10: 122,756,640 (GRCm39) D428E probably damaging Het
Prelid2 A T 18: 42,068,317 (GRCm39) probably benign Het
Ptk2b T C 14: 66,393,830 (GRCm39) Y881C probably damaging Het
Rptor T C 11: 119,785,738 (GRCm39) probably benign Het
Sbno1 T C 5: 124,542,387 (GRCm39) probably null Het
Scaf4 T C 16: 90,039,570 (GRCm39) D843G probably damaging Het
Serpina3b C T 12: 104,096,986 (GRCm39) A89V probably damaging Het
Serpinb9d C A 13: 33,382,005 (GRCm39) T158N possibly damaging Het
Slc39a10 C T 1: 46,874,700 (GRCm39) V201I probably benign Het
Slc6a13 T A 6: 121,301,279 (GRCm39) N189K probably damaging Het
Smco1 G T 16: 32,092,599 (GRCm39) R90L possibly damaging Het
Stim1 T A 7: 102,085,007 (GRCm39) M653K probably benign Het
Stxbp1 T C 2: 32,691,882 (GRCm39) S437G possibly damaging Het
Stxbp3-ps T G 19: 9,536,496 (GRCm39) noncoding transcript Het
Tgtp1 A C 11: 48,878,146 (GRCm39) S186R probably benign Het
Trpv4 C A 5: 114,772,722 (GRCm39) R289L possibly damaging Het
Vmn2r82 A G 10: 79,214,634 (GRCm39) M206V possibly damaging Het
Wdr47 T A 3: 108,544,336 (GRCm39) V653E probably damaging Het
Zfp113 T C 5: 138,148,953 (GRCm39) R64G probably benign Het
Zfp661 C T 2: 127,419,211 (GRCm39) E310K probably damaging Het
Zfp735 T A 11: 73,602,112 (GRCm39) I352N possibly damaging Het
Zswim4 A G 8: 84,939,293 (GRCm39) L863P probably damaging Het
Zzef1 T A 11: 72,779,894 (GRCm39) I1889N probably damaging 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
R0611:Trpc7 UTSW 13 57,035,636 (GRCm39) missense probably damaging 1.00
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'- ATGGCAGAAAACGTGCTCCAGG -3'
(R):5'- ATTTCAGAGTGTAGGCAGTCGCAG -3'

Sequencing Primer
(F):5'- CTCCAGGGAGAATGTCTGTTAC -3'
(R):5'- GAGAGGGCAGCTTTCATGTT -3'
Posted On 2013-05-09