Mutagenetix > Incidental Mutation

Incidental Mutation 'R1751:Trpc7'

193541

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

039783-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R1751 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56920911-57043778 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56923956 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 743 (D743V)

Ref Sequence

ENSEMBL: ENSMUSP00000133305 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022023] [ENSMUST00000109871] [ENSMUST00000151918] [ENSMUST00000173817] [ENSMUST00000174457]

AlphaFold

Q9WVC5

Predicted Effect

probably benign
Transcript: ENSMUST00000022023
AA Change: D798V

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000022023
Gene: ENSMUSG00000021541
AA Change: D798V

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000109871
AA Change: D797V

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105497
Gene: ENSMUSG00000021541
AA Change: D797V

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000173513
AA Change: D681V

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000134662
Gene: ENSMUSG00000021541
AA Change: D681V

Domain	Start	End	E-Value	Type
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: D737V

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000133411
Gene: ENSMUSG00000021541
AA Change: D737V

Domain	Start	End	E-Value	Type
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: D743V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133305
Gene: ENSMUSG00000021541
AA Change: D743V

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.4216

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

99% (85/86)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	T	A	8: 43,972,948 (GRCm39)	I685F	probably benign	Het
Alcam	A	T	16: 52,091,077 (GRCm39)	N480K	probably damaging	Het
Arhgef2	A	G	3: 88,551,260 (GRCm39)	Q778R	probably damaging	Het
Ascc3	T	A	10: 50,594,472 (GRCm39)	I1189N	probably damaging	Het
AU040320	G	A	4: 126,734,517 (GRCm39)	G713D	probably damaging	Het
Bank1	G	T	3: 135,940,375 (GRCm39)	R203S	probably benign	Het
Bank1	A	G	3: 135,960,698 (GRCm39)	V53A	probably benign	Het
Cacna1g	T	C	11: 94,350,628 (GRCm39)	S406G	probably benign	Het
Ccdc198	G	A	14: 49,473,341 (GRCm39)	T128I	probably benign	Het
Ccdc40	T	A	11: 119,121,522 (GRCm39)		probably null	Het
Cdc5l	A	T	17: 45,718,731 (GRCm39)	D628E	probably benign	Het
Chd3	G	A	11: 69,244,727 (GRCm39)		probably benign	Het
Clstn3	A	T	6: 124,408,958 (GRCm39)	W860R	probably damaging	Het
Cntn4	G	A	6: 106,595,371 (GRCm39)		probably null	Het
Coq10b	A	G	1: 55,100,513 (GRCm39)	R66G	probably damaging	Het
Cpn2	A	T	16: 30,078,485 (GRCm39)	Y405*	probably null	Het
Cyp2b9	T	C	7: 25,886,100 (GRCm39)	V89A	probably benign	Het
Depdc1a	T	C	3: 159,228,924 (GRCm39)	C559R	probably damaging	Het
Ephx1	C	T	1: 180,822,242 (GRCm39)	G101S	probably damaging	Het
Fam20a	A	T	11: 109,568,664 (GRCm39)	N287K	probably damaging	Het
Flg	A	T	3: 93,187,220 (GRCm39)	Y224F	possibly damaging	Het
Fzd8	C	T	18: 9,213,643 (GRCm39)	R242C	probably damaging	Het
Gart	A	C	16: 91,439,837 (GRCm39)		probably benign	Het
Gm11116	T	C	5: 88,259,311 (GRCm39)		probably benign	Het
Gm5519	T	C	19: 33,802,391 (GRCm39)	Y145H	possibly damaging	Het
Gmeb1	G	A	4: 131,962,198 (GRCm39)	Q154*	probably null	Het
Gnas	T	A	2: 174,139,687 (GRCm39)		probably benign	Het
Greb1	A	G	12: 16,773,439 (GRCm39)		probably benign	Het
Grin3a	A	T	4: 49,844,423 (GRCm39)	V220E	probably damaging	Het
Gstt2	T	C	10: 75,670,098 (GRCm39)	D8G	probably damaging	Het
Gucy2c	A	T	6: 136,725,773 (GRCm39)		probably benign	Het
Igf2r	A	C	17: 12,916,328 (GRCm39)	S1677A	possibly damaging	Het
Jmjd1c	T	C	10: 67,061,469 (GRCm39)	L1274P	probably benign	Het
Krt13	A	C	11: 100,011,926 (GRCm39)	H132Q	possibly damaging	Het
L1td1	T	C	4: 98,625,686 (GRCm39)	V627A	probably benign	Het
Lrp6	A	G	6: 134,441,531 (GRCm39)	L1145S	probably damaging	Het
Lrrn4cl	A	G	19: 8,829,135 (GRCm39)	T38A	probably benign	Het
Ly96	A	G	1: 16,776,399 (GRCm39)	T112A	probably benign	Het
Meltf	G	T	16: 31,702,747 (GRCm39)	C158F	probably damaging	Het
Mycbp2	A	T	14: 103,485,841 (GRCm39)	H1040Q	probably damaging	Het
Nol8	A	T	13: 49,820,884 (GRCm39)	T914S	probably benign	Het
Npas4	G	A	19: 5,038,211 (GRCm39)	P199L	probably benign	Het
Or12d17	A	T	17: 37,777,792 (GRCm39)	M232L	probably benign	Het
Pcdh10	A	T	3: 45,338,612 (GRCm39)	H923L	probably damaging	Het
Pcp4	A	C	16: 96,326,689 (GRCm39)	Q290P	probably damaging	Het
Pdlim1	C	T	19: 40,240,348 (GRCm39)		probably benign	Het
Pias3	T	C	3: 96,608,719 (GRCm39)	S228P	probably damaging	Het
Pign	A	G	1: 105,580,917 (GRCm39)	V154A	probably benign	Het
Pik3c2a	A	C	7: 115,945,471 (GRCm39)	V1445G	probably damaging	Het
Plod3	T	A	5: 137,019,030 (GRCm39)	V305E	possibly damaging	Het
Plxnc1	A	G	10: 94,685,677 (GRCm39)		probably benign	Het
Prkra	G	T	2: 76,477,584 (GRCm39)	H40Q	possibly damaging	Het
Retnlg	A	T	16: 48,693,991 (GRCm39)	D49V	possibly damaging	Het
Rfx2	A	G	17: 57,091,754 (GRCm39)	V313A	probably benign	Het
Robo2	A	G	16: 73,831,912 (GRCm39)	V256A	probably damaging	Het
Rtp1	A	G	16: 23,250,124 (GRCm39)	E163G	probably damaging	Het
Sbpl	A	G	17: 24,173,777 (GRCm39)		probably null	Het
Scg3	G	A	9: 75,576,622 (GRCm39)	T251M	probably damaging	Het
Setbp1	T	C	18: 78,900,613 (GRCm39)	D1018G	probably damaging	Het
Slc38a11	T	A	2: 65,180,452 (GRCm39)	I182F	probably benign	Het
Slc6a20a	T	A	9: 123,466,165 (GRCm39)	I522F	probably damaging	Het
Smarca2	T	C	19: 26,617,780 (GRCm39)		probably benign	Het
Ssbp3	G	T	4: 106,904,612 (GRCm39)	D336Y	probably damaging	Het
Stox1	T	C	10: 62,495,445 (GRCm39)	T943A	probably damaging	Het
Sun2	A	G	15: 79,609,758 (GRCm39)	S694P	probably benign	Het
Tdp1	G	A	12: 99,857,602 (GRCm39)		probably null	Het
Tfap2a	A	T	13: 40,878,613 (GRCm39)	I204N	probably damaging	Het
Tfip11	T	A	5: 112,482,298 (GRCm39)	W519R	probably damaging	Het
Tie1	T	C	4: 118,333,373 (GRCm39)	E831G	possibly damaging	Het
Tln2	C	T	9: 67,193,796 (GRCm39)	A1773T	probably benign	Het
Tmem39b	A	C	4: 129,586,976 (GRCm39)	I78M	possibly damaging	Het
Trank1	T	C	9: 111,220,547 (GRCm39)	V2428A	probably benign	Het
Trim35	A	G	14: 66,541,617 (GRCm39)	E247G	probably damaging	Het
Trrap	T	C	5: 144,751,385 (GRCm39)		probably null	Het
Tsc1	A	G	2: 28,566,038 (GRCm39)	I485V	probably damaging	Het
Tsc22d1	T	C	14: 76,655,542 (GRCm39)	S674P	probably damaging	Het
Tsn	A	T	1: 118,228,618 (GRCm39)	D201E	probably damaging	Het
Tsr3	T	C	17: 25,461,613 (GRCm39)	I317T	possibly damaging	Het
Tubb1	A	G	2: 174,298,689 (GRCm39)	S124G	probably benign	Het
Vmn1r192	A	G	13: 22,371,441 (GRCm39)	S260P	probably benign	Het
Vmn2r108	A	T	17: 20,682,786 (GRCm39)	V806E	probably damaging	Het
Wnt10b	A	T	15: 98,670,556 (GRCm39)	L228Q	probably damaging	Het
Zfp108	C	A	7: 23,961,321 (GRCm39)	H637Q	probably damaging	Het

Other mutations in Trpc7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- CATGGGAATGCATCTGCTTGCAC -3'
(R):5'- ATTTGCCTGGCTGACCTGATAAGAC -3'

Sequencing Primer
(F):5'- GCATCTGCTTGCACTAAAGAG -3'
(R):5'- gggaggtggggaggtgg -3'

Posted On

2014-05-23