Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00544:Tpcn1'

6394

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tpcn1

Ensembl Gene

ENSMUSG00000032741

Gene Name

two pore channel 1

Synonyms

5730403B01Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00544

Quality Score

Status

Chromosome

Chromosomal Location

120672222-120726731 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120683370 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 452 (V452A)

Ref Sequence

ENSEMBL: ENSMUSP00000042188 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046426]

AlphaFold

Q9EQJ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000046426
AA Change: V452A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000042188
Gene: ENSMUSG00000032741
AA Change: V452A

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

noncoding transcript
Transcript: ENSMUST00000200708

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: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	C	2: 69,115,025 (GRCm39)	H640Q	possibly damaging	Het
Acaca	T	C	11: 84,169,743 (GRCm39)	Y1138H	probably damaging	Het
Agtpbp1	A	G	13: 59,597,986 (GRCm39)	S1208P	probably damaging	Het
Cabyr	A	G	18: 12,877,667 (GRCm39)	N32D	probably damaging	Het
Col28a1	T	C	6: 8,162,228 (GRCm39)		probably null	Het
Heatr3	A	G	8: 88,868,367 (GRCm39)	E39G	possibly damaging	Het
Mmp27	T	C	9: 7,573,505 (GRCm39)		probably benign	Het
Ncapd3	T	G	9: 26,974,634 (GRCm39)	I702R	possibly damaging	Het
Peak1	T	C	9: 56,167,262 (GRCm39)	E222G	probably damaging	Het
Phldb2	C	A	16: 45,645,674 (GRCm39)	R302S	probably damaging	Het
Serpina1b	T	A	12: 103,695,555 (GRCm39)	I329F	possibly damaging	Het
Ttn	G	T	2: 76,575,711 (GRCm39)	Q25061K	probably damaging	Het
Zkscan17	T	C	11: 59,378,364 (GRCm39)	E273G	probably benign	Het

Other mutations in Tpcn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00551:Tpcn1	APN	5	120,698,390 (GRCm39)	missense	probably benign	0.31
IGL02197:Tpcn1	APN	5	120,691,596 (GRCm39)	missense	probably damaging	1.00
IGL02584:Tpcn1	APN	5	120,677,097 (GRCm39)	missense	probably damaging	0.99
IGL03064:Tpcn1	APN	5	120,675,631 (GRCm39)	missense	possibly damaging	0.90
PIT1430001:Tpcn1	UTSW	5	120,686,388 (GRCm39)	splice site	probably benign
R0295:Tpcn1	UTSW	5	120,677,125 (GRCm39)	missense	probably damaging	1.00
R0316:Tpcn1	UTSW	5	120,677,324 (GRCm39)	missense	probably damaging	1.00
R1577:Tpcn1	UTSW	5	120,682,485 (GRCm39)	missense	probably damaging	1.00
R1660:Tpcn1	UTSW	5	120,687,580 (GRCm39)	missense	possibly damaging	0.82
R1819:Tpcn1	UTSW	5	120,674,292 (GRCm39)	splice site	probably null
R2051:Tpcn1	UTSW	5	120,681,453 (GRCm39)	missense	probably damaging	1.00
R2364:Tpcn1	UTSW	5	120,691,559 (GRCm39)	nonsense	probably null
R2497:Tpcn1	UTSW	5	120,677,063 (GRCm39)	splice site	probably null
R3965:Tpcn1	UTSW	5	120,694,640 (GRCm39)	missense	probably damaging	0.98
R3972:Tpcn1	UTSW	5	120,691,817 (GRCm39)	critical splice donor site	probably null
R4062:Tpcn1	UTSW	5	120,695,962 (GRCm39)	missense	possibly damaging	0.82
R4343:Tpcn1	UTSW	5	120,698,285 (GRCm39)	missense	probably damaging	1.00
R4422:Tpcn1	UTSW	5	120,680,583 (GRCm39)	missense	probably damaging	1.00
R4423:Tpcn1	UTSW	5	120,680,583 (GRCm39)	missense	probably damaging	1.00
R4424:Tpcn1	UTSW	5	120,680,583 (GRCm39)	missense	probably damaging	1.00
R4655:Tpcn1	UTSW	5	120,677,322 (GRCm39)	missense	probably damaging	0.98
R4831:Tpcn1	UTSW	5	120,691,554 (GRCm39)	missense	probably damaging	1.00
R4910:Tpcn1	UTSW	5	120,694,584 (GRCm39)	missense	probably damaging	0.98
R4948:Tpcn1	UTSW	5	120,694,596 (GRCm39)	missense	probably benign	0.15
R4965:Tpcn1	UTSW	5	120,685,552 (GRCm39)	missense	possibly damaging	0.82
R4976:Tpcn1	UTSW	5	120,698,387 (GRCm39)	missense	probably benign
R5071:Tpcn1	UTSW	5	120,686,334 (GRCm39)	critical splice donor site	probably null
R5165:Tpcn1	UTSW	5	120,696,010 (GRCm39)	missense	probably damaging	1.00
R5210:Tpcn1	UTSW	5	120,677,279 (GRCm39)	missense	probably damaging	1.00
R5910:Tpcn1	UTSW	5	120,685,462 (GRCm39)	intron	probably benign
R5939:Tpcn1	UTSW	5	120,677,892 (GRCm39)	missense	probably damaging	1.00
R6364:Tpcn1	UTSW	5	120,691,875 (GRCm39)	missense	probably damaging	1.00
R6633:Tpcn1	UTSW	5	120,682,529 (GRCm39)	missense	probably benign	0.03
R6650:Tpcn1	UTSW	5	120,675,627 (GRCm39)	missense	probably null	0.50
R6885:Tpcn1	UTSW	5	120,682,502 (GRCm39)	missense	probably benign	0.21
R7038:Tpcn1	UTSW	5	120,723,342 (GRCm39)	missense	probably damaging	0.99
R7247:Tpcn1	UTSW	5	120,723,315 (GRCm39)	missense	possibly damaging	0.63
R7594:Tpcn1	UTSW	5	120,694,595 (GRCm39)	missense	possibly damaging	0.67
R7629:Tpcn1	UTSW	5	120,676,002 (GRCm39)	missense	probably benign	0.00
R7854:Tpcn1	UTSW	5	120,687,653 (GRCm39)	missense	probably damaging	1.00
R8478:Tpcn1	UTSW	5	120,698,386 (GRCm39)	missense	probably benign
R8967:Tpcn1	UTSW	5	120,694,023 (GRCm39)	missense	probably damaging	0.98
R8970:Tpcn1	UTSW	5	120,682,518 (GRCm39)	missense	probably damaging	1.00
R9137:Tpcn1	UTSW	5	120,695,990 (GRCm39)	missense	probably damaging	1.00
R9158:Tpcn1	UTSW	5	120,687,988 (GRCm39)	splice site	probably benign
R9179:Tpcn1	UTSW	5	120,680,015 (GRCm39)	missense	probably damaging	1.00
R9180:Tpcn1	UTSW	5	120,694,000 (GRCm39)	missense	probably benign	0.00
R9241:Tpcn1	UTSW	5	120,691,558 (GRCm39)	missense	probably benign	0.01
R9341:Tpcn1	UTSW	5	120,678,737 (GRCm39)	missense	possibly damaging	0.81
R9343:Tpcn1	UTSW	5	120,678,737 (GRCm39)	missense	possibly damaging	0.81
R9502:Tpcn1	UTSW	5	120,698,390 (GRCm39)	missense	probably benign	0.19
R9594:Tpcn1	UTSW	5	120,686,021 (GRCm39)	missense	possibly damaging	0.90

Posted On

2012-04-20