Mutagenetix > Incidental Mutation

Incidental Mutation 'R2051:Tpcn1'

226412

Institutional Source

Beutler Lab

Gene Symbol

Tpcn1

Ensembl Gene

ENSMUSG00000032741

Gene Name

two pore channel 1

Synonyms

5730403B01Rik

MMRRC Submission

040058-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2051 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120534153-120588673 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 120543388 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Alanine at position 532 (P532A)

Ref Sequence

ENSEMBL: ENSMUSP00000042188 (fasta)

Gene Model

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

AlphaFold

Q9EQJ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000046426
AA Change: P532A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000042188
Gene: ENSMUSG00000032741
AA Change: P532A

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

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	G	A	5: 138,564,185 (GRCm38)	T98M	probably damaging	Het
4932414N04Rik	G	T	2: 68,711,048 (GRCm38)	K10N	possibly damaging	Het
Aadat	T	A	8: 60,507,139 (GRCm38)	S40T	probably benign	Het
Abca13	A	G	11: 9,328,098 (GRCm38)	I3093V	probably benign	Het
Acacb	A	T	5: 114,245,890 (GRCm38)	Q2160L	probably damaging	Het
Acp6	G	T	3: 97,168,017 (GRCm38)	S189I	probably benign	Het
Actr5	A	T	2: 158,632,293 (GRCm38)	M339L	probably benign	Het
Adcy1	A	T	11: 7,161,885 (GRCm38)	K917*	probably null	Het
Adgrg5	C	T	8: 94,942,067 (GRCm38)	R504C	probably benign	Het
Ago1	T	C	4: 126,460,453 (GRCm38)	H188R	probably benign	Het
Akap9	T	A	5: 3,975,685 (GRCm38)	C23*	probably null	Het
Ank3	T	C	10: 69,898,090 (GRCm38)	I728T	probably damaging	Het
Ankrd50	A	G	3: 38,454,493 (GRCm38)	S1242P	probably benign	Het
Arhgap29	G	A	3: 121,981,860 (GRCm38)	R84H	probably benign	Het
Arhgef10	A	G	8: 14,945,320 (GRCm38)	D7G	probably null	Het
Arid4b	A	G	13: 14,187,645 (GRCm38)	E898G	probably damaging	Het
Atrnl1	A	G	19: 57,691,849 (GRCm38)	N727S	probably benign	Het
Baalc	G	T	15: 38,933,234 (GRCm38)		probably benign	Het
Cdc25c	G	C	18: 34,738,239 (GRCm38)	L275V	probably damaging	Het
Chpf2	G	T	5: 24,591,276 (GRCm38)	V407L	probably benign	Het
Chrnb3	C	A	8: 27,386,811 (GRCm38)	N84K	probably damaging	Het
Cnot1	A	G	8: 95,724,593 (GRCm38)	F2171L	possibly damaging	Het
Csmd3	C	T	15: 48,621,993 (GRCm38)		probably null	Het
Cux1	T	A	5: 136,332,658 (GRCm38)	Q138L	probably damaging	Het
Cyp2c65	A	G	19: 39,082,231 (GRCm38)	N286S	probably benign	Het
Dclre1b	T	C	3: 103,809,040 (GRCm38)	S17G	possibly damaging	Het
Dlgap5	A	G	14: 47,411,484 (GRCm38)	S221P	probably benign	Het
Dnah1	T	G	14: 31,279,123 (GRCm38)	T2422P	probably damaging	Het
Enpp1	A	G	10: 24,711,804 (GRCm38)		probably null	Het
Erbb2	T	C	11: 98,420,172 (GRCm38)	C53R	probably damaging	Het
Exoc8	A	G	8: 124,895,480 (GRCm38)	V716A	probably benign	Het
Fam193a	T	A	5: 34,462,150 (GRCm38)	D766E	probably benign	Het
Fbxo43	C	A	15: 36,162,132 (GRCm38)	G310W	probably damaging	Het
Fcgbp	C	T	7: 28,120,360 (GRCm38)	T2504I	probably damaging	Het
Fnbp4	C	T	2: 90,757,532 (GRCm38)	P418L	probably benign	Het
Gjd2	T	C	2: 114,011,058 (GRCm38)	T313A	probably damaging	Het
Gm12695	T	A	4: 96,769,771 (GRCm38)	R54W	probably damaging	Het
Gm128	T	C	3: 95,240,740 (GRCm38)	D81G	possibly damaging	Het
Gm21834	A	G	17: 57,741,768 (GRCm38)	V151A	possibly damaging	Het
Grhl1	T	A	12: 24,586,152 (GRCm38)		probably null	Het
Hcn1	C	T	13: 117,976,083 (GRCm38)	T861I	probably damaging	Het
Herc6	C	A	6: 57,625,976 (GRCm38)	Q547K	probably benign	Het
Iqgap3	T	C	3: 88,120,167 (GRCm38)	L699P	probably damaging	Het
Kank4	T	C	4: 98,780,102 (GRCm38)	D36G	probably damaging	Het
Kcnk5	A	T	14: 20,142,209 (GRCm38)	S295T	probably damaging	Het
Krt18	T	C	15: 102,029,500 (GRCm38)	V144A	probably benign	Het
Krtap9-5	A	G	11: 99,949,204 (GRCm38)	I244V	unknown	Het
Leng1	T	G	7: 3,665,401 (GRCm38)	N16T	probably damaging	Het
Lss	A	G	10: 76,531,878 (GRCm38)	K15E	possibly damaging	Het
Mastl	G	T	2: 23,132,824 (GRCm38)	A629E	possibly damaging	Het
Mavs	G	C	2: 131,240,450 (GRCm38)	A85P	possibly damaging	Het
Nav3	T	C	10: 109,824,675 (GRCm38)	D678G	probably damaging	Het
Nsd3	T	G	8: 25,691,089 (GRCm38)	S906A	probably damaging	Het
Nsfl1c	A	G	2: 151,503,082 (GRCm38)	N118S	probably damaging	Het
Nup205	T	A	6: 35,230,516 (GRCm38)	M1501K	probably benign	Het
Olfr1178	C	T	2: 88,391,538 (GRCm38)	T97M	possibly damaging	Het
Olfr429	T	A	1: 174,089,219 (GRCm38)	Y60N	possibly damaging	Het
Pax8	A	G	2: 24,436,508 (GRCm38)	S281P	probably benign	Het
Pds5b	T	G	5: 150,748,190 (GRCm38)	I433R	probably damaging	Het
Peg3	T	C	7: 6,712,721 (GRCm38)	N117D	probably damaging	Het
Pfkm	A	T	15: 98,131,692 (GRCm38)	D728V	probably benign	Het
Phkb	T	C	8: 86,049,821 (GRCm38)		probably null	Het
Pkp4	T	C	2: 59,334,904 (GRCm38)	V704A	probably benign	Het
Ppfia2	T	A	10: 106,837,299 (GRCm38)	S501T	probably damaging	Het
Ptpru	T	C	4: 131,819,087 (GRCm38)	E284G	possibly damaging	Het
Ror1	C	T	4: 100,407,868 (GRCm38)	R180*	probably null	Het
Ryr3	T	A	2: 112,756,641 (GRCm38)	Y2666F	probably damaging	Het
Sec23a	C	A	12: 58,990,968 (GRCm38)		probably null	Het
Sertad3	C	T	7: 27,476,269 (GRCm38)	Q43*	probably null	Het
Setd2	C	T	9: 110,550,890 (GRCm38)	H1258Y	probably benign	Het
Sharpin	A	G	15: 76,348,207 (GRCm38)	S177P	probably benign	Het
Skap1	T	C	11: 96,541,463 (GRCm38)	F86S	possibly damaging	Het
Slc8a2	T	C	7: 16,141,015 (GRCm38)	I396T	probably damaging	Het
Slc9a2	T	C	1: 40,726,437 (GRCm38)	F329S	probably damaging	Het
Slx4ip	C	T	2: 137,066,205 (GRCm38)	L161F	possibly damaging	Het
Sox4	A	G	13: 28,952,781 (GRCm38)	S81P	probably damaging	Het
Ssc4d	G	T	5: 135,970,264 (GRCm38)	S28R	probably benign	Het
St8sia2	C	T	7: 73,943,202 (GRCm38)	G369S	possibly damaging	Het
Swt1	T	C	1: 151,372,330 (GRCm38)	Y836C	probably damaging	Het
Taar7d	A	G	10: 24,028,006 (GRCm38)	D262G	probably benign	Het
Taar8b	T	A	10: 24,091,314 (GRCm38)	L327F	probably benign	Het
Tars	A	T	15: 11,393,194 (GRCm38)	L138*	probably null	Het
Tbcd	A	T	11: 121,453,670 (GRCm38)	D75V	probably damaging	Het
Tesc	A	G	5: 118,046,329 (GRCm38)	I25V	probably damaging	Het
Tmem132e	G	T	11: 82,440,438 (GRCm38)	S407I	probably damaging	Het
Tmem50b	C	A	16: 91,580,292 (GRCm38)	A95S	possibly damaging	Het
Tnr	T	C	1: 159,892,033 (GRCm38)	I960T	probably benign	Het
Tns2	C	T	15: 102,108,934 (GRCm38)	R281C	probably damaging	Het
Tpsb2	T	C	17: 25,366,565 (GRCm38)		probably benign	Het
Triobp	C	A	15: 79,004,540 (GRCm38)	H1948Q	probably damaging	Het
Tshb	T	C	3: 102,777,541 (GRCm38)	I116V	probably benign	Het
Ttc13	A	T	8: 124,672,211 (GRCm38)		probably null	Het
Usp34	A	T	11: 23,464,468 (GRCm38)	T2804S	probably damaging	Het
Vmn2r18	A	T	5: 151,562,551 (GRCm38)	C493S	possibly damaging	Het
Vmn2r2	T	C	3: 64,117,345 (GRCm38)	K605R	possibly damaging	Het
Vmn2r37	T	C	7: 9,217,793 (GRCm38)	Y357C	probably damaging	Het
Zc3h6	T	G	2: 129,015,618 (GRCm38)	S686A	possibly damaging	Het
Zfp608	G	A	18: 54,988,314 (GRCm38)	P67L	probably benign	Het
Zyg11a	T	C	4: 108,192,047 (GRCm38)		probably benign	Het

Other mutations in Tpcn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00544:Tpcn1	APN	5	120,545,305 (GRCm38)	missense	probably damaging	0.99
IGL00551:Tpcn1	APN	5	120,560,325 (GRCm38)	missense	probably benign	0.31
IGL02197:Tpcn1	APN	5	120,553,531 (GRCm38)	missense	probably damaging	1.00
IGL02584:Tpcn1	APN	5	120,539,032 (GRCm38)	missense	probably damaging	0.99
IGL03064:Tpcn1	APN	5	120,537,566 (GRCm38)	missense	possibly damaging	0.90
PIT1430001:Tpcn1	UTSW	5	120,548,323 (GRCm38)	splice site	probably benign
R0295:Tpcn1	UTSW	5	120,539,060 (GRCm38)	missense	probably damaging	1.00
R0316:Tpcn1	UTSW	5	120,539,259 (GRCm38)	missense	probably damaging	1.00
R1577:Tpcn1	UTSW	5	120,544,420 (GRCm38)	missense	probably damaging	1.00
R1660:Tpcn1	UTSW	5	120,549,515 (GRCm38)	missense	possibly damaging	0.82
R1819:Tpcn1	UTSW	5	120,536,227 (GRCm38)	splice site	probably null
R2364:Tpcn1	UTSW	5	120,553,494 (GRCm38)	nonsense	probably null
R2497:Tpcn1	UTSW	5	120,538,998 (GRCm38)	splice site	probably null
R3965:Tpcn1	UTSW	5	120,556,575 (GRCm38)	missense	probably damaging	0.98
R3972:Tpcn1	UTSW	5	120,553,752 (GRCm38)	critical splice donor site	probably null
R4062:Tpcn1	UTSW	5	120,557,897 (GRCm38)	missense	possibly damaging	0.82
R4343:Tpcn1	UTSW	5	120,560,220 (GRCm38)	missense	probably damaging	1.00
R4422:Tpcn1	UTSW	5	120,542,518 (GRCm38)	missense	probably damaging	1.00
R4423:Tpcn1	UTSW	5	120,542,518 (GRCm38)	missense	probably damaging	1.00
R4424:Tpcn1	UTSW	5	120,542,518 (GRCm38)	missense	probably damaging	1.00
R4655:Tpcn1	UTSW	5	120,539,257 (GRCm38)	missense	probably damaging	0.98
R4831:Tpcn1	UTSW	5	120,553,489 (GRCm38)	missense	probably damaging	1.00
R4910:Tpcn1	UTSW	5	120,556,519 (GRCm38)	missense	probably damaging	0.98
R4948:Tpcn1	UTSW	5	120,556,531 (GRCm38)	missense	probably benign	0.15
R4965:Tpcn1	UTSW	5	120,547,487 (GRCm38)	missense	possibly damaging	0.82
R4976:Tpcn1	UTSW	5	120,560,322 (GRCm38)	missense	probably benign
R5071:Tpcn1	UTSW	5	120,548,269 (GRCm38)	critical splice donor site	probably null
R5165:Tpcn1	UTSW	5	120,557,945 (GRCm38)	missense	probably damaging	1.00
R5210:Tpcn1	UTSW	5	120,539,214 (GRCm38)	missense	probably damaging	1.00
R5910:Tpcn1	UTSW	5	120,547,397 (GRCm38)	intron	probably benign
R5939:Tpcn1	UTSW	5	120,539,827 (GRCm38)	missense	probably damaging	1.00
R6364:Tpcn1	UTSW	5	120,553,810 (GRCm38)	missense	probably damaging	1.00
R6633:Tpcn1	UTSW	5	120,544,464 (GRCm38)	missense	probably benign	0.03
R6650:Tpcn1	UTSW	5	120,537,562 (GRCm38)	missense	probably null	0.50
R6885:Tpcn1	UTSW	5	120,544,437 (GRCm38)	missense	probably benign	0.21
R7038:Tpcn1	UTSW	5	120,585,277 (GRCm38)	missense	probably damaging	0.99
R7247:Tpcn1	UTSW	5	120,585,250 (GRCm38)	missense	possibly damaging	0.63
R7594:Tpcn1	UTSW	5	120,556,530 (GRCm38)	missense	possibly damaging	0.67
R7629:Tpcn1	UTSW	5	120,537,937 (GRCm38)	missense	probably benign	0.00
R7854:Tpcn1	UTSW	5	120,549,588 (GRCm38)	missense	probably damaging	1.00
R8478:Tpcn1	UTSW	5	120,560,321 (GRCm38)	missense	probably benign
R8967:Tpcn1	UTSW	5	120,555,958 (GRCm38)	missense	probably damaging	0.98
R8970:Tpcn1	UTSW	5	120,544,453 (GRCm38)	missense	probably damaging	1.00
R9137:Tpcn1	UTSW	5	120,557,925 (GRCm38)	missense	probably damaging	1.00
R9158:Tpcn1	UTSW	5	120,549,923 (GRCm38)	splice site	probably benign
R9179:Tpcn1	UTSW	5	120,541,950 (GRCm38)	missense	probably damaging	1.00
R9180:Tpcn1	UTSW	5	120,555,935 (GRCm38)	missense	probably benign	0.00
R9241:Tpcn1	UTSW	5	120,553,493 (GRCm38)	missense	probably benign	0.01
R9341:Tpcn1	UTSW	5	120,540,672 (GRCm38)	missense	possibly damaging	0.81
R9343:Tpcn1	UTSW	5	120,540,672 (GRCm38)	missense	possibly damaging	0.81
R9502:Tpcn1	UTSW	5	120,560,325 (GRCm38)	missense	probably benign	0.19
R9594:Tpcn1	UTSW	5	120,547,956 (GRCm38)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- TGTGCCCCTATCCTTAATAGCTCAG -3'
(R):5'- CCAAGGGTGACTCTCAGACTTG -3'

Sequencing Primer
(F):5'- GCTCAGGCTAAAGATGGGG -3'
(R):5'- AAGCCCCACTGTATGCTGTG -3'

Posted On

2014-09-17