Incidental Mutation 'IGL02055:Trpc7'
ID 185204
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trpc7
Ensembl Gene ENSMUSG00000021541
Gene Name transient receptor potential cation channel, subfamily C, member 7
Synonyms TRP7, Trrp8
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # IGL02055
Quality Score
Status
Chromosome 13
Chromosomal Location 56920911-57043778 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 57035357 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 192 (R192Q)
Ref Sequence ENSEMBL: ENSMUSP00000133411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022023] [ENSMUST00000109871] [ENSMUST00000151918] [ENSMUST00000173817] [ENSMUST00000174457]
AlphaFold Q9WVC5
Predicted Effect probably benign
Transcript: ENSMUST00000022023
AA Change: R192Q

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000022023
Gene: ENSMUSG00000021541
AA Change: R192Q

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 benign
Transcript: ENSMUST00000109871
AA Change: R192Q

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000105497
Gene: ENSMUSG00000021541
AA Change: R192Q

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
AA Change: R192Q

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000119809
Gene: ENSMUSG00000021541
AA Change: R192Q

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: R191Q
SMART Domains Protein: ENSMUSP00000134481
Gene: ENSMUSG00000021541
AA Change: R191Q

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: R191Q
SMART Domains Protein: ENSMUSP00000134285
Gene: ENSMUSG00000021541
AA Change: R191Q

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: R191Q
SMART Domains Protein: ENSMUSP00000134662
Gene: ENSMUSG00000021541
AA Change: R191Q

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 benign
Transcript: ENSMUST00000173817
AA Change: R192Q

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000133411
Gene: ENSMUSG00000021541
AA Change: R192Q

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 benign
Transcript: ENSMUST00000174457
AA Change: R192Q

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000133305
Gene: ENSMUSG00000021541
AA Change: R192Q

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
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap1b1 T A 11: 4,974,452 (GRCm39) C353* probably null Het
Asl C T 5: 130,041,891 (GRCm39) G309R possibly damaging Het
B4galnt4 T C 7: 140,650,731 (GRCm39) F835S probably damaging Het
Bltp2 A G 11: 78,177,457 (GRCm39) T1921A probably damaging Het
Carmil2 A G 8: 106,423,539 (GRCm39) probably benign Het
Ccnt2 C A 1: 127,719,447 (GRCm39) P116T possibly damaging Het
Clcn1 T G 6: 42,284,489 (GRCm39) M609R probably damaging Het
Csmd1 A G 8: 16,119,015 (GRCm39) I1858T probably damaging Het
Eefsec T C 6: 88,353,385 (GRCm39) I95V probably damaging Het
Galk2 A G 2: 125,773,324 (GRCm39) K252R probably benign Het
Gbp2 A T 3: 142,337,991 (GRCm39) N369I probably benign Het
Glis2 G T 16: 4,431,972 (GRCm39) probably benign Het
Igdcc3 T C 9: 65,088,562 (GRCm39) V388A possibly damaging Het
Klhl1 A G 14: 96,517,539 (GRCm39) F379S possibly damaging Het
Or5b12 T A 19: 12,896,930 (GRCm39) I248F possibly damaging Het
Pigm C T 1: 172,204,732 (GRCm39) S156L probably benign Het
Pikfyve T C 1: 65,277,703 (GRCm39) probably null Het
Ppp6r3 A G 19: 3,571,781 (GRCm39) F123L probably benign Het
Pum1 C A 4: 130,481,365 (GRCm39) S637R probably benign Het
Rp1 A G 1: 4,422,745 (GRCm39) S112P probably damaging Het
Serpina3k A T 12: 104,307,295 (GRCm39) K176* probably null Het
Smad4 A G 18: 73,774,999 (GRCm39) probably benign Het
Tas2r140 T A 6: 40,468,493 (GRCm39) F108I probably damaging Het
Tbc1d20 G A 2: 152,149,978 (GRCm39) R73H probably damaging Het
Tmem131l T C 3: 83,817,673 (GRCm39) probably null Het
Tmem86b A C 7: 4,631,762 (GRCm39) probably benign Het
Trav6-4 G A 14: 53,692,237 (GRCm39) V115I probably benign Het
Trim37 T G 11: 87,057,475 (GRCm39) V303G probably benign Het
Ush1g T C 11: 115,208,925 (GRCm39) D423G possibly damaging Het
Veph1 T A 3: 66,113,048 (GRCm39) D252V possibly damaging Het
Vmn1r181 T G 7: 23,683,978 (GRCm39) L148V probably damaging Het
Vmn1r42 T C 6: 89,822,571 (GRCm39) probably benign Het
Vmn2r77 T A 7: 86,450,763 (GRCm39) H216Q probably benign Het
Zfp39 A G 11: 58,782,156 (GRCm39) V202A probably benign 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
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
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
Posted On 2014-05-07