Mutagenetix > Incidental Mutation

Incidental Mutation 'R4649:Trpc7'

350625

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

041910-MU

Accession Numbers

Essential gene?

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

Stock #

R4649 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56920911-57043778 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 57035367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 189 (R189C)

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: R189C

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000022023
Gene: ENSMUSG00000021541
AA Change: R189C

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

probably benign
Transcript: ENSMUST00000109871
AA Change: R189C

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000105497
Gene: ENSMUSG00000021541
AA Change: R189C

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
AA Change: R189C

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000119809
Gene: ENSMUSG00000021541
AA Change: R189C

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

unknown
Transcript: ENSMUST00000173067
AA Change: R188C

SMART Domains

Protein: ENSMUSP00000134481
Gene: ENSMUSG00000021541
AA Change: R188C

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

unknown
Transcript: ENSMUST00000173466
AA Change: R188C

SMART Domains

Protein: ENSMUSP00000134285
Gene: ENSMUSG00000021541
AA Change: R188C

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

unknown
Transcript: ENSMUST00000173513
AA Change: R188C

SMART Domains

Protein: ENSMUSP00000134662
Gene: ENSMUSG00000021541
AA Change: R188C

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: R189C

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000133411
Gene: ENSMUSG00000021541
AA Change: R189C

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: R189C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000133305
Gene: ENSMUSG00000021541
AA Change: R189C

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
4933409G03Rik	G	A	2: 68,436,559 (GRCm39)	E168K	unknown	Het
Abca4	G	T	3: 121,963,542 (GRCm39)	V841F	probably damaging	Het
Adcy10	G	A	1: 165,331,618 (GRCm39)	E84K	probably damaging	Het
Adgrg6	C	A	10: 14,344,571 (GRCm39)	M127I	probably damaging	Het
Agpat5	A	G	8: 18,929,668 (GRCm39)	I266V	possibly damaging	Het
Agtpbp1	A	T	13: 59,676,213 (GRCm39)	Y186N	possibly damaging	Het
Alx1	A	T	10: 102,845,193 (GRCm39)	N279K	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Arsi	A	G	18: 61,050,170 (GRCm39)	Y351C	probably damaging	Het
B4galnt3	T	A	6: 120,201,581 (GRCm39)	R155W	probably damaging	Het
BC028528	T	C	3: 95,795,577 (GRCm39)	E75G	probably damaging	Het
Bmp2k	C	T	5: 97,200,970 (GRCm39)	P297S	possibly damaging	Het
Btnl4	A	G	17: 34,691,602 (GRCm39)	S296P	probably benign	Het
Bzw2	A	T	12: 36,173,980 (GRCm39)	V98E	probably null	Het
Cacna1d	C	T	14: 29,817,365 (GRCm39)	M1232I	probably benign	Het
Cast	A	G	13: 74,894,133 (GRCm39)	S171P	probably benign	Het
Catsperb	G	A	12: 101,507,771 (GRCm39)	A513T	probably benign	Het
Cd19	A	G	7: 126,013,664 (GRCm39)	S42P	probably benign	Het
Chml	A	G	1: 175,514,962 (GRCm39)	S138P	probably benign	Het
Clic6	T	G	16: 92,327,827 (GRCm39)		probably null	Het
Col12a1	A	T	9: 79,547,076 (GRCm39)	V2252E	probably damaging	Het
Cplx2	G	A	13: 54,527,361 (GRCm39)	E82K	probably benign	Het
Csmd2	G	A	4: 128,439,866 (GRCm39)	V3107M	probably benign	Het
Cspg4	T	A	9: 56,794,149 (GRCm39)	V628D	possibly damaging	Het
Dcaf13	G	A	15: 39,001,637 (GRCm39)	R315Q	possibly damaging	Het
Deaf1	A	G	7: 140,877,486 (GRCm39)	V547A	possibly damaging	Het
Dmxl1	C	T	18: 50,011,698 (GRCm39)	T1285I	probably damaging	Het
Dnah3	C	A	7: 119,646,921 (GRCm39)	W1036L	probably damaging	Het
Dnai3	A	G	3: 145,753,922 (GRCm39)	S713P	probably damaging	Het
Dpy19l1	A	C	9: 24,393,350 (GRCm39)	S140A	possibly damaging	Het
Dsg2	T	A	18: 20,735,302 (GRCm39)	D1093E	possibly damaging	Het
Edaradd	T	A	13: 12,523,304 (GRCm39)	H12L	probably damaging	Het
Enam	T	C	5: 88,640,827 (GRCm39)	M163T	probably benign	Het
Fbxo22	T	A	9: 55,128,333 (GRCm39)	V218E	probably damaging	Het
Fbxo34	A	T	14: 47,767,085 (GRCm39)	K148N	probably damaging	Het
Foxi3	A	G	6: 70,933,960 (GRCm39)	D149G	probably damaging	Het
Gbp8	C	T	5: 105,189,807 (GRCm39)	G75D	probably damaging	Het
Gm10784	C	T	13: 50,099,251 (GRCm39)		noncoding transcript	Het
Gm7247	G	A	14: 51,807,051 (GRCm39)		probably null	Het
Grik3	T	A	4: 125,544,278 (GRCm39)	V333E	probably damaging	Het
Gsap	A	T	5: 21,431,309 (GRCm39)	D211V	probably damaging	Het
H2-T15	T	C	17: 36,368,768 (GRCm39)	Y104C	possibly damaging	Het
Ino80	T	C	2: 119,261,489 (GRCm39)	N725S	probably damaging	Het
Itgad	A	G	7: 127,788,703 (GRCm39)	I443V	probably benign	Het
Itsn1	T	A	16: 91,638,476 (GRCm39)	I52N	probably damaging	Het
Kmt2b	TCTCCTCCTCCTCCTCCTCCTCCTCC	TCTCCTCCTCCTCCTCCTCCTCC	7: 30,285,783 (GRCm39)		probably benign	Het
Lamc1	T	G	1: 153,104,523 (GRCm39)	S59R	probably damaging	Het
Lrrk1	T	C	7: 65,922,801 (GRCm39)	I1366V	probably benign	Het
Lyn	C	A	4: 3,738,850 (GRCm39)	Q41K	probably benign	Het
Mapk13	C	T	17: 28,997,461 (GRCm39)	R360*	probably null	Het
Mapk8ip3	T	A	17: 25,123,726 (GRCm39)	I599F	probably damaging	Het
Me1	T	C	9: 86,561,905 (GRCm39)	K60R	probably benign	Het
Mga	T	A	2: 119,771,974 (GRCm39)	D1532E	possibly damaging	Het
Miga1	G	A	3: 151,984,642 (GRCm39)	S427L	probably benign	Het
Mknk2	A	T	10: 80,505,173 (GRCm39)	V186E	probably damaging	Het
Myo1a	C	A	10: 127,546,086 (GRCm39)	N236K	probably benign	Het
Myt1	A	G	2: 181,439,207 (GRCm39)	D243G	probably benign	Het
Ncf4	T	C	15: 78,140,189 (GRCm39)	V196A	possibly damaging	Het
Nlrp5	G	T	7: 23,117,603 (GRCm39)	L442F	probably damaging	Het
Olfm4	G	A	14: 80,258,747 (GRCm39)	D332N	probably benign	Het
Or4a81	C	A	2: 89,619,637 (GRCm39)	V20F	probably benign	Het
Or4b1d	T	A	2: 89,969,432 (GRCm39)	D17V	probably damaging	Het
Osbpl11	T	A	16: 33,016,452 (GRCm39)	M69K	probably benign	Het
Oxnad1	T	A	14: 31,824,366 (GRCm39)	*312K	probably null	Het
Plekhg1	A	G	10: 3,906,985 (GRCm39)	Q634R	probably benign	Het
Plekhh2	T	C	17: 84,882,691 (GRCm39)	Y733H	probably damaging	Het
Ppp1r21	A	G	17: 88,856,941 (GRCm39)	H132R	probably benign	Het
Prkcq	T	C	2: 11,284,333 (GRCm39)	V501A	possibly damaging	Het
Prpf38b	G	A	3: 108,811,408 (GRCm39)		probably benign	Het
Prpf4b	A	T	13: 35,083,954 (GRCm39)	M908L	probably benign	Het
Prps2	T	C	X: 166,135,288 (GRCm39)	D183G	probably damaging	Het
Pudp	T	C	18: 50,701,259 (GRCm39)	D158G	probably damaging	Het
R3hdm1	T	C	1: 128,112,181 (GRCm39)	S422P	probably damaging	Het
Ranbp3	T	A	17: 57,003,640 (GRCm39)		probably null	Het
Ranbp6	A	G	19: 29,787,721 (GRCm39)	V877A	probably benign	Het
Rgsl1	A	T	1: 153,693,328 (GRCm39)	S618T	probably benign	Het
Rhox2a	G	C	X: 36,508,962 (GRCm39)	R43P	probably benign	Het
Rhox2a	A	T	X: 36,509,015 (GRCm39)	I61L	probably benign	Het
Rnf207	A	C	4: 152,396,612 (GRCm39)	D466E	probably benign	Het
Rnf7	A	G	9: 96,353,883 (GRCm39)	I80T	probably benign	Het
Ros1	T	A	10: 52,005,764 (GRCm39)	I878F	possibly damaging	Het
Rsbn1	T	A	3: 103,861,096 (GRCm39)		probably null	Het
Sbk1	T	C	7: 125,890,301 (GRCm39)	S105P	probably damaging	Het
Sdk1	T	C	5: 141,992,380 (GRCm39)	Y790H	probably damaging	Het
Sec62	T	A	3: 30,864,683 (GRCm39)	N182K	unknown	Het
Slc15a1	T	C	14: 121,715,504 (GRCm39)	Y345C	probably damaging	Het
Slc27a1	G	A	8: 72,023,408 (GRCm39)	A15T	probably benign	Het
Slc35d1	A	G	4: 103,070,426 (GRCm39)	F110L	probably damaging	Het
Slc39a5	T	A	10: 128,233,136 (GRCm39)	S333C	probably benign	Het
Tarbp1	A	G	8: 127,173,934 (GRCm39)	S927P	probably damaging	Het
Tns1	A	G	1: 73,992,930 (GRCm39)	S583P	probably damaging	Het
Trim38	A	T	13: 23,966,952 (GRCm39)	D133V	probably damaging	Het
Trim40	T	C	17: 37,193,531 (GRCm39)		probably null	Het
Trim42	C	A	9: 97,244,998 (GRCm39)	V601L	probably benign	Het
Ttc29	A	T	8: 79,060,208 (GRCm39)	Y376F	probably benign	Het
Vmn2r63	A	G	7: 42,553,114 (GRCm39)	I714T	possibly damaging	Het
Vmn2r68	C	A	7: 84,870,743 (GRCm39)	A847S	probably benign	Het
Zbp1	G	A	2: 173,049,608 (GRCm39)	P385S	possibly damaging	Het
Zfat	A	G	15: 68,056,325 (GRCm39)	Y237H	probably damaging	Het
Zfp236	A	T	18: 82,615,784 (GRCm39)	W1840R	probably damaging	Het
Zfp426	G	T	9: 20,381,923 (GRCm39)	Q341K	possibly damaging	Het
Zfp462	T	A	4: 55,009,349 (GRCm39)	N438K	probably benign	Het
Zfp952	T	A	17: 33,221,899 (GRCm39)	V88E	probably damaging	Het
Znfx1	G	T	2: 166,898,276 (GRCm39)	A216D	probably benign	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
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
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'- ACTCGTTGCTTAGCTCCAGC -3'
(R):5'- TCACTGAACTGTTGCTGAAGAAAG -3'

Sequencing Primer
(F):5'- CGCAGTGAGGACAGGGTCTTC -3'
(R):5'- CGCATTGTGGAGGCCATC -3'

Posted On

2015-10-08