Incidental Mutation 'IGL02451:Trpc7'
ID 293667
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 # IGL02451
Quality Score
Status
Chromosome 13
Chromosomal Location 56920911-57043778 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56970274 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 382 (S382P)
Ref Sequence ENSEMBL: ENSMUSP00000133305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022023] [ENSMUST00000109871] [ENSMUST00000151918] [ENSMUST00000174457] [ENSMUST00000173817]
AlphaFold Q9WVC5
Predicted Effect probably damaging
Transcript: ENSMUST00000022023
AA Change: S437P

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000022023
Gene: ENSMUSG00000021541
AA Change: S437P

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: S437P

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105497
Gene: ENSMUSG00000021541
AA Change: S437P

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 unknown
Transcript: ENSMUST00000173513
AA Change: S320P
SMART Domains Protein: ENSMUSP00000134662
Gene: ENSMUSG00000021541
AA Change: S320P

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 damaging
Transcript: ENSMUST00000174457
AA Change: S382P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000133305
Gene: ENSMUSG00000021541
AA Change: S382P

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 benign
Transcript: ENSMUST00000173817
AA Change: S376P

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000133411
Gene: ENSMUSG00000021541
AA Change: S376P

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
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T G 5: 138,561,809 (GRCm39) T126P probably damaging Het
Asic2 T C 11: 80,782,563 (GRCm39) probably benign Het
B430305J03Rik A G 3: 61,271,562 (GRCm39) probably benign Het
Bbs7 A G 3: 36,664,741 (GRCm39) F47L possibly damaging Het
Bcl2l14 G T 6: 134,400,804 (GRCm39) G75V probably benign Het
Btnl4 T C 17: 34,694,901 (GRCm39) H4R probably benign Het
Champ1 C A 8: 13,928,739 (GRCm39) P299Q probably damaging Het
Cimap3 T A 3: 105,921,820 (GRCm39) E34D probably benign Het
Cldnd2 A G 7: 43,091,082 (GRCm39) K5E probably benign Het
Ctr9 T A 7: 110,642,631 (GRCm39) L401* probably null Het
Cyp2c29 G A 19: 39,279,291 (GRCm39) G96D possibly damaging Het
Enpp4 A T 17: 44,412,315 (GRCm39) L298H probably damaging Het
Git1 T C 11: 77,391,513 (GRCm39) C222R possibly damaging Het
Gpam T C 19: 55,076,635 (GRCm39) T189A probably damaging Het
Hgfac T G 5: 35,201,158 (GRCm39) probably null Het
Hivep3 T A 4: 119,991,162 (GRCm39) S2221T probably damaging Het
Ifi47 T C 11: 48,986,604 (GRCm39) Y124H probably damaging Het
Il1a T C 2: 129,148,575 (GRCm39) E45G probably damaging Het
Itga11 T A 9: 62,642,635 (GRCm39) I186N probably damaging Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Mapk13 A G 17: 28,995,387 (GRCm39) T203A probably damaging Het
Mrpl37 T A 4: 106,923,839 (GRCm39) I52F probably damaging Het
Mtrex C T 13: 113,027,881 (GRCm39) V660M probably damaging Het
Nr1i2 A G 16: 38,069,654 (GRCm39) F417L probably benign Het
Or10ag59 T A 2: 87,405,576 (GRCm39) S49R probably benign Het
Or6c215 G A 10: 129,637,702 (GRCm39) Q231* probably null Het
Osbpl1a T C 18: 13,047,550 (GRCm39) probably benign Het
Parg C T 14: 31,964,186 (GRCm39) T112M probably damaging Het
Pou6f1 T C 15: 100,477,821 (GRCm39) T166A possibly damaging Het
Prtg A G 9: 72,764,281 (GRCm39) I585V possibly damaging Het
Ptpru T G 4: 131,504,086 (GRCm39) probably benign Het
Rab6a T C 7: 100,285,970 (GRCm39) probably null Het
Rnf207 C T 4: 152,396,869 (GRCm39) R425H probably benign Het
Rusf1 A G 7: 127,875,582 (GRCm39) L257P probably damaging Het
Slc27a2 A G 2: 126,420,912 (GRCm39) M468V probably benign Het
Slc30a1 A G 1: 191,639,441 (GRCm39) H108R possibly damaging Het
Sned1 A G 1: 93,163,930 (GRCm39) probably benign Het
Sptbn4 A T 7: 27,065,014 (GRCm39) F2095Y probably null Het
Sspo A T 6: 48,437,237 (GRCm39) probably benign Het
Tbx19 A G 1: 164,967,740 (GRCm39) S336P probably benign Het
Tmem101 T A 11: 102,044,119 (GRCm39) D256V probably damaging Het
Trbv20 T G 6: 41,165,210 (GRCm39) L2V unknown Het
Tut4 C A 4: 108,386,473 (GRCm39) Y1114* probably null Het
Uhmk1 T C 1: 170,040,095 (GRCm39) T91A possibly damaging Het
Vmn2r10 T A 5: 109,143,788 (GRCm39) R721* probably null Het
Vmn2r94 T A 17: 18,478,453 (GRCm39) Y98F possibly damaging Het
Zfp532 A G 18: 65,756,672 (GRCm39) R202G probably damaging Het
Zfp827 T C 8: 79,787,601 (GRCm39) S256P probably damaging Het
Zzef1 T C 11: 72,792,214 (GRCm39) I2266T 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
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 2015-04-16