Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03064:Tpcn1'

409570

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tpcn1

Ensembl Gene

ENSMUSG00000032741

Gene Name

two pore channel 1

Synonyms

5730403B01Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03064

Quality Score

Status

Chromosome

Chromosomal Location

120534153-120588673 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120537566 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 778 (I778V)

Ref Sequence

ENSEMBL: ENSMUSP00000042188 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046426] [ENSMUST00000068326] [ENSMUST00000076051] [ENSMUST00000111889] [ENSMUST00000111890]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046426
AA Change: I778V

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000042188
Gene: ENSMUSG00000032741
AA Change: I778V

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	106	332	1.5e-30	PFAM
Pfam:Ion_trans	441	695	1.2e-31	PFAM
SCOP:d1fxkc_	713	795	2e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000068326

SMART Domains

Protein: ENSMUSP00000064714
Gene: ENSMUSG00000032754

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:Na_Ca_ex	103	246	5.7e-25	PFAM
low complexity region	262	275	N/A	INTRINSIC
low complexity region	337	351	N/A	INTRINSIC
transmembrane domain	360	382	N/A	INTRINSIC
transmembrane domain	387	409	N/A	INTRINSIC
Pfam:Na_Ca_ex	421	574	1.8e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000076051

SMART Domains

Protein: ENSMUSP00000075428
Gene: ENSMUSG00000032754

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:Na_Ca_ex	113	244	9.2e-19	PFAM
low complexity region	262	275	N/A	INTRINSIC
transmembrane domain	323	345	N/A	INTRINSIC
transmembrane domain	360	382	N/A	INTRINSIC
transmembrane domain	387	409	N/A	INTRINSIC
Pfam:Na_Ca_ex	431	477	2.3e-8	PFAM
low complexity region	507	519	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111889

SMART Domains

Protein: ENSMUSP00000107520
Gene: ENSMUSG00000032754

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:Na_Ca_ex	113	232	2.5e-16	PFAM
low complexity region	281	295	N/A	INTRINSIC
transmembrane domain	304	326	N/A	INTRINSIC
transmembrane domain	331	353	N/A	INTRINSIC
Pfam:Na_Ca_ex	375	516	1.7e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111890

SMART Domains

Protein: ENSMUSP00000107521
Gene: ENSMUSG00000032754

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:Na_Ca_ex	116	227	2.8e-12	PFAM
low complexity region	245	258	N/A	INTRINSIC
low complexity region	320	334	N/A	INTRINSIC
transmembrane domain	343	365	N/A	INTRINSIC
transmembrane domain	370	392	N/A	INTRINSIC
Pfam:Na_Ca_ex	414	555	3.2e-27	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated Ca(2+) and Na+ channels have 4 homologous domains, each containing 6 transmembrane segments, S1 to S6. TPCN1 is similar to these channels, but it has only 2 domains containing S1 to S6 (Ishibashi et al., 2000 [PubMed 10753632]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous inactivation of this gene results in no apparent phenotypic abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	A	G	7: 119,575,641	T210A	probably damaging	Het
Adgb	T	A	10: 10,400,572	T351S	probably benign	Het
Akap9	A	G	5: 3,968,755	H1112R	probably damaging	Het
Angptl6	A	T	9: 20,875,643	Y261*	probably null	Het
Arhgef10l	A	C	4: 140,579,279	F395V	probably damaging	Het
Bub1	T	C	2: 127,817,453	N328S	probably benign	Het
Cacna1s	A	G	1: 136,111,993	N1452D	probably damaging	Het
Cacna2d2	C	A	9: 107,509,275	F200L	probably damaging	Het
Calca	G	A	7: 114,633,684	S110L	probably benign	Het
Ccdc120	G	A	X: 7,735,362	P263S	probably benign	Het
Dgki	C	A	6: 37,149,664		probably benign	Het
Ear1	G	T	14: 43,819,045	S122*	probably null	Het
F5	A	T	1: 164,195,594	T1574S	probably benign	Het
Fam227b	T	C	2: 126,126,842		probably null	Het
Gm20521	T	A	14: 54,897,223	S301T	possibly damaging	Het
Hsd17b7	A	T	1: 169,959,718	I239N	probably benign	Het
Itih1	C	A	14: 30,941,557	E167D	probably benign	Het
Lama1	A	T	17: 67,779,104	Y1446F	probably benign	Het
Lama3	C	T	18: 12,439,349	T537M	possibly damaging	Het
Lars	G	T	18: 42,221,571	Y770*	probably null	Het
Lrp2	A	T	2: 69,483,133	V2418E	probably damaging	Het
Maip1	A	G	1: 57,407,200	E143G	probably damaging	Het
Mast4	G	T	13: 102,760,964	S907*	probably null	Het
Mctp1	C	T	13: 76,801,513	Q555*	probably null	Het
Med14	A	T	X: 12,747,503	D291E	probably benign	Het
Mgat2	T	A	12: 69,185,003	V117D	probably damaging	Het
Mllt1	A	T	17: 56,900,094	M250K	probably benign	Het
Myt1	A	C	2: 181,797,801	Y372S	probably benign	Het
Naa16	T	A	14: 79,339,628	Q735H	probably damaging	Het
Ncf4	A	G	15: 78,250,902	Y53C	probably damaging	Het
Nlrp4a	A	T	7: 26,449,509	K180N	probably benign	Het
Nova1	A	G	12: 46,700,078	V472A	probably damaging	Het
Nup153	T	C	13: 46,693,839	T705A	probably benign	Het
Odf2	T	A	2: 29,901,079	N79K	probably benign	Het
Olfr1303	A	G	2: 111,814,423	I101T	possibly damaging	Het
Pard3b	G	A	1: 62,198,771		probably benign	Het
Pde8b	G	A	13: 95,046,398	T388I	probably damaging	Het
Pet2	A	G	X: 89,405,251	V424A	possibly damaging	Het
Phactr2	A	G	10: 13,388,713		probably benign	Het
Phf12	T	C	11: 77,983,360	S17P	probably damaging	Het
Psmg2	T	A	18: 67,646,032	L90*	probably null	Het
Ryr2	T	C	13: 11,643,902		probably null	Het
Sec23b	T	C	2: 144,582,032	F534L	probably benign	Het
Sin3b	A	G	8: 72,757,058		probably benign	Het
Slc30a5	A	T	13: 100,811,310	L520Q	probably damaging	Het
Slc35g3	T	C	11: 69,761,069	H52R	possibly damaging	Het
Slc6a3	G	T	13: 73,571,466	S538I	probably damaging	Het
Socs2	G	T	10: 95,412,851	C133*	probably null	Het
Srebf2	G	A	15: 82,192,222	R691H	probably benign	Het
Tlr11	C	A	14: 50,361,100	P181Q	probably damaging	Het
Tlr7	T	A	X: 167,306,207	Q761L	possibly damaging	Het
Tmem120b	T	A	5: 123,102,273	Y90N	possibly damaging	Het
Ttll8	T	C	15: 88,919,594	T385A	probably benign	Het
Vmn1r223	G	A	13: 23,249,983	R249H	probably damaging	Het
Vmn2r53	A	T	7: 12,601,010	I241N	possibly damaging	Het
Wdfy3	T	C	5: 101,935,997	R808G	probably damaging	Het
Zfyve26	T	A	12: 79,261,791	S231C	probably damaging	Het

Other mutations in Tpcn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00544:Tpcn1	APN	5	120545305	missense	probably damaging	0.99
IGL00551:Tpcn1	APN	5	120560325	missense	probably benign	0.31
IGL02197:Tpcn1	APN	5	120553531	missense	probably damaging	1.00
IGL02584:Tpcn1	APN	5	120539032	missense	probably damaging	0.99
PIT1430001:Tpcn1	UTSW	5	120548323	splice site	probably benign
R0295:Tpcn1	UTSW	5	120539060	missense	probably damaging	1.00
R0316:Tpcn1	UTSW	5	120539259	missense	probably damaging	1.00
R1577:Tpcn1	UTSW	5	120544420	missense	probably damaging	1.00
R1660:Tpcn1	UTSW	5	120549515	missense	possibly damaging	0.82
R1819:Tpcn1	UTSW	5	120536227	splice site	probably null
R2051:Tpcn1	UTSW	5	120543388	missense	probably damaging	1.00
R2364:Tpcn1	UTSW	5	120553494	nonsense	probably null
R2497:Tpcn1	UTSW	5	120538998	splice site	probably null
R3965:Tpcn1	UTSW	5	120556575	missense	probably damaging	0.98
R3972:Tpcn1	UTSW	5	120553752	critical splice donor site	probably null
R4062:Tpcn1	UTSW	5	120557897	missense	possibly damaging	0.82
R4343:Tpcn1	UTSW	5	120560220	missense	probably damaging	1.00
R4422:Tpcn1	UTSW	5	120542518	missense	probably damaging	1.00
R4423:Tpcn1	UTSW	5	120542518	missense	probably damaging	1.00
R4424:Tpcn1	UTSW	5	120542518	missense	probably damaging	1.00
R4655:Tpcn1	UTSW	5	120539257	missense	probably damaging	0.98
R4831:Tpcn1	UTSW	5	120553489	missense	probably damaging	1.00
R4910:Tpcn1	UTSW	5	120556519	missense	probably damaging	0.98
R4948:Tpcn1	UTSW	5	120556531	missense	probably benign	0.15
R4965:Tpcn1	UTSW	5	120547487	missense	possibly damaging	0.82
R4976:Tpcn1	UTSW	5	120560322	missense	probably benign
R5071:Tpcn1	UTSW	5	120548269	critical splice donor site	probably null
R5165:Tpcn1	UTSW	5	120557945	missense	probably damaging	1.00
R5210:Tpcn1	UTSW	5	120539214	missense	probably damaging	1.00
R5910:Tpcn1	UTSW	5	120547397	intron	probably benign
R5939:Tpcn1	UTSW	5	120539827	missense	probably damaging	1.00
R6364:Tpcn1	UTSW	5	120553810	missense	probably damaging	1.00
R6633:Tpcn1	UTSW	5	120544464	missense	probably benign	0.03
R6650:Tpcn1	UTSW	5	120537562	missense	probably null	0.50
R6883:Tpcn1	UTSW	5	120544437	missense	probably benign	0.21

Posted On

Aug 02, 2016