Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02451:Trpc7'

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

Trrp8, TRP7

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

IGL02451

Quality Score

Status

Chromosome

Chromosomal Location

56773113-56895993 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56822461 bp

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] [ENSMUST00000173817] [ENSMUST00000174457]

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

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 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

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

unknown
Transcript: ENSMUST00000173513
AA Change: S320P

SMART Domains

Protein: ENSMUSP00000134662
Gene: ENSMUSG00000021541
AA Change: S320P

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: S376P

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000133411
Gene: ENSMUSG00000021541
AA Change: S376P

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: S382P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133305
Gene: ENSMUSG00000021541
AA Change: S382P

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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	G	5: 138,563,547	T126P	probably damaging	Het
Asic2	T	C	11: 80,891,737		probably benign	Het
B430305J03Rik	A	G	3: 61,364,141		probably benign	Het
Bbs7	A	G	3: 36,610,592	F47L	possibly damaging	Het
BC017158	A	G	7: 128,276,410	L257P	probably damaging	Het
Bcl2l14	G	T	6: 134,423,841	G75V	probably benign	Het
Btnl4	T	C	17: 34,475,927	H4R	probably benign	Het
Champ1	C	A	8: 13,878,739	P299Q	probably damaging	Het
Cldnd2	A	G	7: 43,441,658	K5E	probably benign	Het
Ctr9	T	A	7: 111,043,424	L401*	probably null	Het
Cyp2c29	G	A	19: 39,290,847	G96D	possibly damaging	Het
Enpp4	A	T	17: 44,101,424	L298H	probably damaging	Het
Git1	T	C	11: 77,500,687	C222R	possibly damaging	Het
Gpam	T	C	19: 55,088,203	T189A	probably damaging	Het
Hgfac	T	G	5: 35,043,814		probably null	Het
Hivep3	T	A	4: 120,133,965	S2221T	probably damaging	Het
Ifi47	T	C	11: 49,095,777	Y124H	probably damaging	Het
Il1a	T	C	2: 129,306,655	E45G	probably damaging	Het
Itga11	T	A	9: 62,735,353	I186N	probably damaging	Het
Krt16	A	T	11: 100,246,336		probably benign	Het
Mapk13	A	G	17: 28,776,413	T203A	probably damaging	Het
Mrpl37	T	A	4: 107,066,642	I52F	probably damaging	Het
Nr1i2	A	G	16: 38,249,292	F417L	probably benign	Het
Olfr1129	T	A	2: 87,575,232	S49R	probably benign	Het
Olfr811	G	A	10: 129,801,833	Q231*	probably null	Het
Osbpl1a	T	C	18: 12,914,493		probably benign	Het
Parg	C	T	14: 32,242,229	T112M	probably damaging	Het
Pifo	T	A	3: 106,014,504	E34D	probably benign	Het
Pou6f1	T	C	15: 100,579,940	T166A	possibly damaging	Het
Prtg	A	G	9: 72,856,999	I585V	possibly damaging	Het
Ptpru	T	G	4: 131,776,775		probably benign	Het
Rab6a	T	C	7: 100,636,763		probably null	Het
Rnf207	C	T	4: 152,312,412	R425H	probably benign	Het
Skiv2l2	C	T	13: 112,891,347	V660M	probably damaging	Het
Slc27a2	A	G	2: 126,578,992	M468V	probably benign	Het
Slc30a1	A	G	1: 191,907,329	H108R	possibly damaging	Het
Sned1	A	G	1: 93,236,208		probably benign	Het
Sptbn4	A	T	7: 27,365,589	F2095Y	probably null	Het
Sspo	A	T	6: 48,460,303		probably benign	Het
Tbx19	A	G	1: 165,140,171	S336P	probably benign	Het
Tmem101	T	A	11: 102,153,293	D256V	probably damaging	Het
Trbv20	T	G	6: 41,188,276	L2V	unknown	Het
Uhmk1	T	C	1: 170,212,526	T91A	possibly damaging	Het
Vmn2r10	T	A	5: 108,995,922	R721*	probably null	Het
Vmn2r94	T	A	17: 18,258,191	Y98F	possibly damaging	Het
Zcchc11	C	A	4: 108,529,276	Y1114*	probably null	Het
Zfp532	A	G	18: 65,623,601	R202G	probably damaging	Het
Zfp827	T	C	8: 79,060,972	S256P	probably damaging	Het
Zzef1	T	C	11: 72,901,388	I2266T	probably damaging	Het

Other mutations in Trpc7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00538:Trpc7	APN	13	56773809	missense	possibly damaging	0.64
IGL00809:Trpc7	APN	13	56822488	missense	probably benign	0.00
IGL01011:Trpc7	APN	13	56804540	missense	probably damaging	1.00
IGL01517:Trpc7	APN	13	56861065	missense	probably damaging	1.00
IGL01824:Trpc7	APN	13	56789722	nonsense	probably null
IGL02055:Trpc7	APN	13	56887544	missense	probably benign	0.13
IGL02267:Trpc7	APN	13	56860930	missense	probably damaging	1.00
IGL02323:Trpc7	APN	13	56783751	missense	possibly damaging	0.91
IGL02635:Trpc7	APN	13	56776168	missense	probably damaging	1.00
IGL03335:Trpc7	APN	13	56887691	missense	probably damaging	1.00
PIT4305001:Trpc7	UTSW	13	56887508	missense	probably benign	0.00
R0217:Trpc7	UTSW	13	56789768	nonsense	probably null
R0611:Trpc7	UTSW	13	56887823	missense	probably damaging	1.00
R0919:Trpc7	UTSW	13	56822649	splice site	probably benign
R1235:Trpc7	UTSW	13	56887539	missense	probably damaging	1.00
R1751:Trpc7	UTSW	13	56776143	missense	probably damaging	1.00
R4324:Trpc7	UTSW	13	56887356	missense	probably damaging	0.99
R4649:Trpc7	UTSW	13	56887554	missense	probably damaging	1.00
R4731:Trpc7	UTSW	13	56804553	missense	probably damaging	1.00
R5379:Trpc7	UTSW	13	56804550	missense	probably damaging	1.00
R5834:Trpc7	UTSW	13	56776158	missense	probably damaging	1.00
R5985:Trpc7	UTSW	13	56810545	missense	probably damaging	0.96
R6244:Trpc7	UTSW	13	56773892	missense	probably damaging	1.00
R6599:Trpc7	UTSW	13	56810380	splice site	probably null
R6778:Trpc7	UTSW	13	56804687	missense	probably damaging	1.00
R7140:Trpc7	UTSW	13	56789674	nonsense	probably null
R7150:Trpc7	UTSW	13	56783696	missense	probably benign	0.00
R7156:Trpc7	UTSW	13	56789766	missense	possibly damaging	0.61
R7238:Trpc7	UTSW	13	56826897	missense	probably benign	0.17
R7716:Trpc7	UTSW	13	56789760	missense	probably damaging	1.00
R7739:Trpc7	UTSW	13	56773766	makesense	probably null
R8114:Trpc7	UTSW	13	56804598	missense	probably benign	0.14
R8143:Trpc7	UTSW	13	56782549	missense	probably benign	0.01
R8179:Trpc7	UTSW	13	56887880	missense	probably damaging	1.00
R8204:Trpc7	UTSW	13	56783796	missense	probably benign	0.06
R8262:Trpc7	UTSW	13	56789789	missense	probably benign	0.32
R8325:Trpc7	UTSW	13	56804711	missense	probably damaging	1.00
R8353:Trpc7	UTSW	13	56822559	missense	probably benign	0.04
R8414:Trpc7	UTSW	13	56822469	missense	probably benign	0.01
R8453:Trpc7	UTSW	13	56822559	missense	probably benign	0.04
Z1177:Trpc7	UTSW	13	56810444	missense	probably benign	0.00
Z1177:Trpc7	UTSW	13	56822432	missense	probably damaging	0.99

Posted On

2015-04-16