Mutagenetix > Incidental Mutation

Incidental Mutation 'R0385:Tpcn2'

31226

Institutional Source

Beutler Lab

Gene Symbol

Tpcn2

Ensembl Gene

ENSMUSG00000048677

Gene Name

two pore segment channel 2

Synonyms

D830047E22Rik

MMRRC Submission

038591-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0385 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144740261-144837748 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144830911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 145 (Y145H)

Ref Sequence

ENSEMBL: ENSMUSP00000147224 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058022] [ENSMUST00000208148] [ENSMUST00000208328] [ENSMUST00000208841] [ENSMUST00000209047] [ENSMUST00000209156]

AlphaFold

Q8BWC0

Predicted Effect

probably damaging
Transcript: ENSMUST00000058022
AA Change: Y145H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000061308
Gene: ENSMUSG00000048677
AA Change: Y145H

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	67	302	5.1e-24	PFAM
Pfam:Ion_trans	415	683	1.5e-29	PFAM
low complexity region	709	729	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000208148
AA Change: Y121H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208328
AA Change: Y145H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208841
AA Change: Y145H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209047
AA Change: Y145H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000209156

Coding Region Coverage

1x: 99.2%
3x: 98.2%
10x: 96.0%
20x: 92.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a putative cation-selective ion channel with two repeats of a six-transmembrane-domain. The protein localizes to lysosomal membranes and enables nicotinic acid adenine dinucleotide phosphate (NAADP) -induced calcium ion release from lysosome-related stores. This ubiquitously expressed gene has elevated expression in liver and kidney. Two common nonsynonymous SNPs in this gene strongly associate with blond versus brown hair pigmentation.[provided by RefSeq, Dec 2009]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit altered beta cell calcium ion physiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,122,574 (GRCm39)	N331S	probably benign	Het
Adk	A	G	14: 21,368,142 (GRCm39)	N189S	probably benign	Het
Apc	T	A	18: 34,448,997 (GRCm39)	N1930K	probably damaging	Het
Arhgap28	T	C	17: 68,171,601 (GRCm39)	D391G	probably damaging	Het
Atn1	G	T	6: 124,720,334 (GRCm39)		probably benign	Het
C2cd5	T	C	6: 142,987,216 (GRCm39)	E471G	probably damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Cap2	T	C	13: 46,714,023 (GRCm39)	L34P	probably damaging	Het
Cdc42ep2	T	A	19: 5,968,553 (GRCm39)	M51L	probably benign	Het
Cntn5	C	T	9: 9,972,875 (GRCm39)	A254T	probably damaging	Het
Dicer1	A	T	12: 104,670,433 (GRCm39)	L1044H	probably damaging	Het
Dkk3	A	C	7: 111,757,430 (GRCm39)	M58R	probably damaging	Het
Dpy19l3	G	A	7: 35,452,130 (GRCm39)	R5W	probably damaging	Het
Dsg1c	C	T	18: 20,416,711 (GRCm39)	P871S	probably damaging	Het
Dusp1	A	T	17: 26,726,670 (GRCm39)	S131T	probably benign	Het
Enpp2	C	T	15: 54,745,555 (GRCm39)	G314R	probably damaging	Het
Entr1	T	C	2: 26,277,671 (GRCm39)	E41G	possibly damaging	Het
Fam222b	C	A	11: 78,045,756 (GRCm39)	P439Q	probably benign	Het
Fastkd2	A	T	1: 63,776,970 (GRCm39)	I369F	probably benign	Het
Fdps	G	A	3: 89,002,201 (GRCm39)	S205F	probably damaging	Het
Fmo1	A	T	1: 162,663,773 (GRCm39)	V252E	possibly damaging	Het
Frmd5	A	G	2: 121,386,055 (GRCm39)	Y230H	probably damaging	Het
Gal	C	T	19: 3,461,171 (GRCm39)	V88I	probably benign	Het
Gnptab	T	C	10: 88,272,387 (GRCm39)	I1009T	probably damaging	Het
Idh2	C	T	7: 79,748,005 (GRCm39)	A232T	probably damaging	Het
Klhdc7a	A	T	4: 139,694,016 (GRCm39)	D310E	probably benign	Het
Klk4	T	C	7: 43,533,432 (GRCm39)	M97T	probably benign	Het
Krt82	C	T	15: 101,454,028 (GRCm39)	V227M	probably damaging	Het
Lpp	T	C	16: 24,580,587 (GRCm39)	V226A	probably damaging	Het
Mbd1	AGCTGACTCGGTAC	A	18: 74,406,312 (GRCm39)		probably null	Het
Mcm10	T	C	2: 5,008,965 (GRCm39)	K335E	possibly damaging	Het
Mpv17l	A	T	16: 13,758,863 (GRCm39)	I96L	probably benign	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Myb	T	C	10: 21,030,611 (GRCm39)	D62G	possibly damaging	Het
Nasp	A	T	4: 116,467,892 (GRCm39)	N364K	probably benign	Het
Npsr1	A	G	9: 24,224,573 (GRCm39)	N317D	probably damaging	Het
Nup210	A	G	6: 91,005,777 (GRCm39)	V619A	possibly damaging	Het
Oser1	C	T	2: 163,253,316 (GRCm39)		probably null	Het
Pcdhb4	T	C	18: 37,442,268 (GRCm39)	F526S	probably damaging	Het
Plekhh3	T	C	11: 101,055,967 (GRCm39)	N444S	probably damaging	Het
Pnpla5	G	T	15: 84,004,920 (GRCm39)	L144M	probably damaging	Het
Pou2f2	G	A	7: 24,815,501 (GRCm39)	Q89*	probably null	Het
Ptprb	A	G	10: 116,186,083 (GRCm39)	I1713V	probably benign	Het
Ptprd	A	G	4: 76,046,902 (GRCm39)	Y442H	probably damaging	Het
Rad21	A	T	15: 51,837,259 (GRCm39)	I152N	possibly damaging	Het
Ralgapa1	A	G	12: 55,723,823 (GRCm39)	S1568P	probably damaging	Het
Rhag	T	A	17: 41,145,618 (GRCm39)	V357E	probably damaging	Het
Rnf121	A	T	7: 101,678,324 (GRCm39)	D174E	possibly damaging	Het
Sf3b4	T	C	3: 96,080,298 (GRCm39)	Y16H	probably damaging	Het
Slc1a3	C	T	15: 8,668,619 (GRCm39)	V449I	probably damaging	Het
Slc20a2	A	G	8: 23,058,409 (GRCm39)	I648M	probably benign	Het
Slc25a25	T	A	2: 32,307,834 (GRCm39)	I254F	probably damaging	Het
Slit3	A	G	11: 35,591,109 (GRCm39)	H1307R	probably damaging	Het
Sorl1	C	A	9: 41,943,205 (GRCm39)	M890I	probably damaging	Het
Supt16	A	C	14: 52,414,175 (GRCm39)	M468R	probably benign	Het
Taf4b	T	C	18: 14,916,817 (GRCm39)	S56P	probably benign	Het
Tapt1	T	C	5: 44,375,443 (GRCm39)		probably null	Het
Tmco3	T	G	8: 13,346,027 (GRCm39)	C288W	probably damaging	Het
Ttn	C	T	2: 76,712,061 (GRCm39)		probably benign	Het
Usb1	G	T	8: 96,071,946 (GRCm39)	W215C	probably damaging	Het
Usp2	C	G	9: 44,004,047 (GRCm39)	T305R	probably damaging	Het
Vmn1r13	G	A	6: 57,187,690 (GRCm39)	S283N	probably benign	Het
Vps54	A	G	11: 21,256,381 (GRCm39)	K467E	possibly damaging	Het
Wnk2	G	T	13: 49,221,604 (GRCm39)	S1121Y	probably damaging	Het
Zbed6	A	T	1: 133,584,522 (GRCm39)	D938E	probably damaging	Het

Other mutations in Tpcn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01472:Tpcn2	APN	7	144,821,115 (GRCm39)	missense	probably damaging	1.00
IGL02112:Tpcn2	APN	7	144,810,529 (GRCm39)	missense	probably benign	0.18
IGL02646:Tpcn2	APN	7	144,812,311 (GRCm39)	missense	probably benign	0.03
R1441:Tpcn2	UTSW	7	144,813,871 (GRCm39)	missense	probably benign
R1498:Tpcn2	UTSW	7	144,822,648 (GRCm39)	missense	probably damaging	1.00
R1598:Tpcn2	UTSW	7	144,830,957 (GRCm39)	nonsense	probably null
R2127:Tpcn2	UTSW	7	144,827,712 (GRCm39)	splice site	probably benign
R2354:Tpcn2	UTSW	7	144,810,955 (GRCm39)	missense	probably damaging	1.00
R3747:Tpcn2	UTSW	7	144,809,260 (GRCm39)	missense	probably damaging	0.97
R3748:Tpcn2	UTSW	7	144,809,260 (GRCm39)	missense	probably damaging	0.97
R3749:Tpcn2	UTSW	7	144,809,260 (GRCm39)	missense	probably damaging	0.97
R4775:Tpcn2	UTSW	7	144,821,079 (GRCm39)	missense	probably damaging	1.00
R4835:Tpcn2	UTSW	7	144,826,088 (GRCm39)	missense	probably damaging	0.98
R4931:Tpcn2	UTSW	7	144,821,046 (GRCm39)	missense	probably benign	0.34
R4979:Tpcn2	UTSW	7	144,813,833 (GRCm39)	missense	probably benign
R5185:Tpcn2	UTSW	7	144,809,191 (GRCm39)	missense	probably damaging	1.00
R5418:Tpcn2	UTSW	7	144,832,518 (GRCm39)	missense	probably damaging	1.00
R5443:Tpcn2	UTSW	7	144,809,209 (GRCm39)	missense	possibly damaging	0.46
R5623:Tpcn2	UTSW	7	144,821,071 (GRCm39)	missense	possibly damaging	0.76
R5716:Tpcn2	UTSW	7	144,811,550 (GRCm39)	missense	possibly damaging	0.94
R5910:Tpcn2	UTSW	7	144,814,719 (GRCm39)	missense	probably benign	0.01
R5927:Tpcn2	UTSW	7	144,832,521 (GRCm39)	missense	probably damaging	0.99
R6015:Tpcn2	UTSW	7	144,820,588 (GRCm39)	missense	probably damaging	1.00
R6036:Tpcn2	UTSW	7	144,822,606 (GRCm39)	missense	possibly damaging	0.93
R6036:Tpcn2	UTSW	7	144,822,606 (GRCm39)	missense	possibly damaging	0.93
R6299:Tpcn2	UTSW	7	144,815,980 (GRCm39)	missense	probably damaging	1.00
R6337:Tpcn2	UTSW	7	144,833,080 (GRCm39)	missense	probably damaging	1.00
R6382:Tpcn2	UTSW	7	144,823,486 (GRCm39)	missense	possibly damaging	0.88
R6724:Tpcn2	UTSW	7	144,810,257 (GRCm39)	missense	probably benign	0.00
R6995:Tpcn2	UTSW	7	144,810,522 (GRCm39)	missense	probably benign	0.00
R7494:Tpcn2	UTSW	7	144,832,586 (GRCm39)	missense	possibly damaging	0.91
R7942:Tpcn2	UTSW	7	144,810,928 (GRCm39)	missense	probably damaging	0.99
R8052:Tpcn2	UTSW	7	144,814,683 (GRCm39)	missense	probably benign	0.06
R8320:Tpcn2	UTSW	7	144,820,359 (GRCm39)	missense	possibly damaging	0.75
R9131:Tpcn2	UTSW	7	144,814,662 (GRCm39)	missense	probably damaging	1.00
Y4335:Tpcn2	UTSW	7	144,810,972 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGAAACCAAAGCCCTCCAGGATATG -3'
(R):5'- CTAATGGGAACCCCTGTCACCAATG -3'

Sequencing Primer
(F):5'- GCCCTCCAGGATATGAACTTATGG -3'
(R):5'- CAAGCTGCCTTGGCATGAATG -3'

Posted On

2013-04-24