Mutagenetix > Incidental Mutation

Incidental Mutation 'R4948:Tpcn1'

383569

Institutional Source

Beutler Lab

Gene Symbol

Tpcn1

Ensembl Gene

ENSMUSG00000032741

Gene Name

two pore channel 1

Synonyms

5730403B01Rik

MMRRC Submission

042545-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4948 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120672222-120726731 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120694596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 158 (M158L)

Ref Sequence

ENSEMBL: ENSMUSP00000042188 (fasta)

Gene Model

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

AlphaFold

Q9EQJ0

Predicted Effect

probably benign
Transcript: ENSMUST00000046426
AA Change: M158L

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000042188
Gene: ENSMUSG00000032741
AA Change: M158L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201971

Meta Mutation Damage Score

0.1859

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.3%
20x: 92.2%

Validation Efficiency

94% (103/109)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	T	16: 16,936,154 (GRCm39)		probably null	Het
Adcy4	C	T	14: 56,016,486 (GRCm39)	D322N	probably damaging	Het
Alas1	A	T	9: 106,124,077 (GRCm39)	L27*	probably null	Het
Aldh1a7	A	G	19: 20,704,374 (GRCm39)	V40A	possibly damaging	Het
Appbp2	A	T	11: 85,085,409 (GRCm39)	I499K	possibly damaging	Het
B3gnt5	A	C	16: 19,587,894 (GRCm39)	M38L	probably benign	Het
Brd8	A	G	18: 34,747,585 (GRCm39)	V92A	probably damaging	Het
Btla	A	T	16: 45,063,091 (GRCm39)	E151D	probably benign	Het
Cd79b	T	A	11: 106,203,687 (GRCm39)	T67S	probably benign	Het
Cep192	A	G	18: 67,949,875 (GRCm39)	R320G	probably benign	Het
Chad	A	C	11: 94,456,528 (GRCm39)	D202A	probably damaging	Het
Chil6	A	G	3: 106,295,988 (GRCm39)		probably benign	Het
Cpz	T	C	5: 35,674,748 (GRCm39)	E167G	possibly damaging	Het
Crisp2	T	G	17: 41,076,159 (GRCm39)	H225P	probably damaging	Het
Cyp2c23	T	C	19: 44,010,138 (GRCm39)	Y69C	possibly damaging	Het
Dcp1a	T	A	14: 30,201,724 (GRCm39)	L49H	probably damaging	Het
Dnah6	T	A	6: 73,030,672 (GRCm39)	H3380L	probably benign	Het
Dnai3	T	A	3: 145,788,820 (GRCm39)	K254*	probably null	Het
Dnm2	A	G	9: 21,415,829 (GRCm39)	D721G	possibly damaging	Het
Dnpep	G	T	1: 75,293,404 (GRCm39)	T15K	probably benign	Het
Dock3	A	T	9: 106,868,354 (GRCm39)	D643E	probably damaging	Het
Ear6	C	T	14: 52,091,573 (GRCm39)	T40I	possibly damaging	Het
Fancm	A	G	12: 65,137,748 (GRCm39)	D313G	probably damaging	Het
Fbxw16	T	A	9: 109,267,415 (GRCm39)	E272V	probably damaging	Het
Frmd4b	T	A	6: 97,283,691 (GRCm39)	E393D	probably benign	Het
Fryl	T	A	5: 73,246,473 (GRCm39)	M1100L	probably benign	Het
Gjd3	T	C	11: 102,691,247 (GRCm39)	H252R	probably damaging	Het
Gm10518	T	C	1: 179,631,477 (GRCm39)		probably benign	Het
Gna14	A	G	19: 16,580,656 (GRCm39)	M165V	probably benign	Het
Hells	C	A	19: 38,923,966 (GRCm39)	Q72K	probably damaging	Het
Herc1	A	G	9: 66,392,184 (GRCm39)	I4031V	probably benign	Het
Hspa2	C	T	12: 76,452,761 (GRCm39)	A485V	probably damaging	Het
Ighv1-54	T	A	12: 115,157,438 (GRCm39)	I70F	probably benign	Het
Il20rb	A	T	9: 100,343,592 (GRCm39)		probably benign	Het
Irag1	A	G	7: 110,487,236 (GRCm39)	V498A	probably damaging	Het
Krt1	C	A	15: 101,754,376 (GRCm39)	V625L	unknown	Het
Lamc3	T	C	2: 31,830,748 (GRCm39)	I1495T	probably benign	Het
Larp6	A	G	9: 60,645,063 (GRCm39)	E401G	possibly damaging	Het
Ldha	A	T	7: 46,496,805 (GRCm39)	H19L	probably benign	Het
Lrba	A	G	3: 86,192,335 (GRCm39)	N83S	probably damaging	Het
Lrp4	G	T	2: 91,316,231 (GRCm39)	R783L	probably benign	Het
Lrrk2	T	G	15: 91,687,592 (GRCm39)	I2227S	probably benign	Het
Lvrn	T	C	18: 47,013,803 (GRCm39)	L495P	probably damaging	Het
Macf1	T	C	4: 123,391,548 (GRCm39)	N1077S	probably damaging	Het
Mboat1	A	G	13: 30,425,213 (GRCm39)	T425A	probably damaging	Het
Mcam	A	G	9: 44,047,863 (GRCm39)	E36G	probably damaging	Het
Meis1	T	A	11: 18,966,308 (GRCm39)	T22S	probably benign	Het
Micu1	A	G	10: 59,699,076 (GRCm39)	K451R	possibly damaging	Het
Nat8	A	T	6: 85,807,505 (GRCm39)	D209E	probably benign	Het
Nek10	T	A	14: 14,860,986 (GRCm38)	L513M	possibly damaging	Het
Nmral1	G	A	16: 4,534,274 (GRCm39)	R56*	probably null	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or10j27	A	G	1: 172,958,526 (GRCm39)	V86A	probably benign	Het
Or5b99	A	T	19: 12,977,195 (GRCm39)	T282S	probably benign	Het
Or5g25	T	C	2: 85,477,916 (GRCm39)	I250V	probably benign	Het
Or5h24	G	A	16: 58,919,340 (GRCm39)	T5I	probably damaging	Het
Palm3	A	T	8: 84,753,708 (GRCm39)	R132*	probably null	Het
Pax2	A	G	19: 44,804,479 (GRCm39)	Y272C	probably damaging	Het
Phc2	G	A	4: 128,616,908 (GRCm39)	A394T	probably benign	Het
Phf2	C	A	13: 48,961,198 (GRCm39)	G831C	unknown	Het
Pik3c2b	G	A	1: 133,027,453 (GRCm39)		probably null	Het
Plin2	T	A	4: 86,580,228 (GRCm39)	I178F	probably benign	Het
Pramel32	A	T	4: 88,547,185 (GRCm39)	L162H	probably damaging	Het
Prdm14	T	A	1: 13,192,855 (GRCm39)	I295F	probably damaging	Het
Psmd5	C	T	2: 34,760,795 (GRCm39)	R47H	probably benign	Het
Ptchd3	T	A	11: 121,733,342 (GRCm39)	I744K	probably damaging	Het
Ptrh1	T	A	2: 32,666,557 (GRCm39)		probably benign	Het
Rab6a	A	G	7: 100,277,627 (GRCm39)	D49G	probably damaging	Het
Radil	A	T	5: 142,470,994 (GRCm39)	D1062E	probably benign	Het
Robo2	A	G	16: 74,149,726 (GRCm39)	V34A	possibly damaging	Het
Sall3	G	A	18: 81,014,626 (GRCm39)	P1029S	probably benign	Het
Sec14l3	A	G	11: 4,018,101 (GRCm39)	D127G	possibly damaging	Het
Sel1l2	A	G	2: 140,086,086 (GRCm39)	Y502H	probably damaging	Het
Serpina1f	A	G	12: 103,656,010 (GRCm39)	V406A	probably damaging	Het
Sf3b3	T	C	8: 111,540,301 (GRCm39)	D1040G	probably damaging	Het
Sgcd	A	G	11: 46,870,262 (GRCm39)	I233T	possibly damaging	Het
Slc15a3	A	G	19: 10,820,410 (GRCm39)	Q9R	probably benign	Het
Slc25a46	A	G	18: 31,716,336 (GRCm39)	F389L	probably damaging	Het
Slc26a2	G	T	18: 61,331,330 (GRCm39)	C700*	probably null	Het
Slc4a7	A	G	14: 14,771,283 (GRCm38)	Y671C	possibly damaging	Het
Slc5a10	A	T	11: 61,610,708 (GRCm39)	I22N	probably damaging	Het
Slc5a9	C	A	4: 111,748,941 (GRCm39)		probably null	Het
Slc6a12	A	G	6: 121,332,281 (GRCm39)	D205G	probably benign	Het
Tas2r115	G	A	6: 132,714,124 (GRCm39)	H276Y	probably damaging	Het
Tdpoz4	T	A	3: 93,704,318 (GRCm39)	I205N	probably damaging	Het
Tfeb	C	T	17: 48,096,904 (GRCm39)	T33I	probably benign	Het
Tgm3	A	G	2: 129,890,240 (GRCm39)	T668A	probably benign	Het
Tnpo3	A	G	6: 29,582,259 (GRCm39)	V201A	probably benign	Het
Trim47	A	C	11: 115,996,918 (GRCm39)	L612R	probably damaging	Het
Trmt10c	A	T	16: 55,854,438 (GRCm39)	L399*	probably null	Het
Trpm2	A	T	10: 77,753,626 (GRCm39)	S1293T	probably benign	Het
Ttn	C	T	2: 76,582,941 (GRCm39)	V22651I	probably damaging	Het
Tubgcp5	A	G	7: 55,455,871 (GRCm39)	I300V	probably benign	Het
Uty	T	A	Y: 1,136,883 (GRCm39)	Q844L	probably damaging	Het
Vmn2r85	C	T	10: 130,254,990 (GRCm39)	E565K	probably damaging	Het
Vmn2r97	T	C	17: 19,167,561 (GRCm39)	V605A	possibly damaging	Het
Vwa3a	T	C	7: 120,375,487 (GRCm39)	V399A	probably damaging	Het
Wnk4	G	A	11: 101,159,107 (GRCm39)	R508Q	probably damaging	Het
Zfp217	A	G	2: 169,961,130 (GRCm39)	V399A	probably damaging	Het
Zfp616	T	A	11: 73,974,830 (GRCm39)	N457K	possibly damaging	Het

Other mutations in Tpcn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00544:Tpcn1	APN	5	120,683,370 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- ATCTCACTGGGCTACACTCC -3'
(R):5'- TCTGTCTATAAAGCCTTGTCTGG -3'

Sequencing Primer
(F):5'- GGGCTACACTCCCAAGCATACG -3'
(R):5'- CCTTGTCTGGCATCTTGAGG -3'

Posted On

2016-04-27