Mutagenetix > Incidental Mutation

Incidental Mutation 'R3747:Tpcn2'

309866

Institutional Source

Beutler Lab

Gene Symbol

Tpcn2

Ensembl Gene

ENSMUSG00000048677

Gene Name

two pore segment channel 2

Synonyms

D830047E22Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3747 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144740261-144837748 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144809260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 682 (H682R)

Ref Sequence

ENSEMBL: ENSMUSP00000061308 (fasta)

Gene Model

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

AlphaFold

Q8BWC0

Predicted Effect

probably damaging
Transcript: ENSMUST00000058022
AA Change: H682R

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000061308
Gene: ENSMUSG00000048677
AA Change: H682R

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 benign
Transcript: ENSMUST00000208148

Predicted Effect

probably benign
Transcript: ENSMUST00000208328

Predicted Effect

probably benign
Transcript: ENSMUST00000208841

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208867

Predicted Effect

probably benign
Transcript: ENSMUST00000209047

Meta Mutation Damage Score

0.1794

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	C	A	5: 77,036,501 (GRCm39)	E347*	probably null	Het
Abhd18	A	G	3: 40,888,008 (GRCm39)	N284S	probably benign	Het
Adam12	T	C	7: 133,774,594 (GRCm39)	D5G	probably damaging	Het
Adam26b	A	C	8: 43,974,234 (GRCm39)	V256G	probably benign	Het
Aga	T	A	8: 53,970,856 (GRCm39)	I192N	probably benign	Het
Ago1	A	G	4: 126,354,837 (GRCm39)	I125T	probably benign	Het
Alk	A	G	17: 72,218,560 (GRCm39)	S762P	probably damaging	Het
Bckdk	C	A	7: 127,504,590 (GRCm39)	R105S	probably damaging	Het
Cby3	T	C	11: 50,250,501 (GRCm39)	*236R	probably null	Het
Cfhr1	C	A	1: 139,485,372 (GRCm39)		probably null	Het
Clcn1	T	A	6: 42,276,849 (GRCm39)	Y393N	probably damaging	Het
Cx3cr1	T	C	9: 119,881,132 (GRCm39)	H90R	probably damaging	Het
Cyp3a16	T	A	5: 145,378,881 (GRCm39)	K380M	probably damaging	Het
Cyp4v3	G	A	8: 45,768,745 (GRCm39)	R272*	probably null	Het
Dazap1	C	T	10: 80,123,498 (GRCm39)	R391C	possibly damaging	Het
Dgkh	T	A	14: 78,821,885 (GRCm39)	E876V	probably damaging	Het
Dnah8	A	T	17: 31,003,148 (GRCm39)	K3616*	probably null	Het
E2f1	C	G	2: 154,405,942 (GRCm39)	G144R	probably damaging	Het
Fam221a	A	G	6: 49,349,630 (GRCm39)	D2G	probably damaging	Het
Fam43a	C	T	16: 30,420,664 (GRCm39)	T416I	probably benign	Het
Fam90a1a	C	A	8: 22,453,221 (GRCm39)	S192*	probably null	Het
Foxd1	G	C	13: 98,492,424 (GRCm39)	A433P	unknown	Het
Garin4	T	G	1: 190,896,207 (GRCm39)	Q145H	probably damaging	Het
Gm10152	G	A	7: 144,316,937 (GRCm39)		probably null	Het
Hipk3	T	A	2: 104,271,628 (GRCm39)	R435*	probably null	Het
Hnrnpab	T	A	11: 51,493,473 (GRCm39)	Y245F	probably benign	Het
Islr2	A	T	9: 58,106,925 (GRCm39)	S112T	probably benign	Het
Itgb7	A	T	15: 102,131,212 (GRCm39)	V280D	probably damaging	Het
Kndc1	G	A	7: 139,507,817 (GRCm39)		probably null	Het
Lrba	T	G	3: 86,283,260 (GRCm39)	L1858R	probably damaging	Het
Mroh2b	G	A	15: 4,981,728 (GRCm39)	W1513*	probably null	Het
Nbeal1	A	G	1: 60,234,182 (GRCm39)	D51G	probably damaging	Het
Ncoa6	G	A	2: 155,253,561 (GRCm39)	P939L	probably benign	Het
Ndst3	A	G	3: 123,465,201 (GRCm39)	I257T	probably benign	Het
Nolc1	CAG	CAGAAG	19: 46,069,795 (GRCm39)		probably benign	Het
Nuf2	T	A	1: 169,352,945 (GRCm39)	N20I	probably damaging	Het
Osbpl7	T	C	11: 96,946,879 (GRCm39)	V223A	probably damaging	Het
Pcm1	T	C	8: 41,785,041 (GRCm39)	I2064T	probably benign	Het
Pkd1	A	G	17: 24,810,435 (GRCm39)	R90G	possibly damaging	Het
Pkdrej	T	A	15: 85,705,278 (GRCm39)	K219N	probably damaging	Het
Ppil4	A	T	10: 7,690,457 (GRCm39)	Q370L	probably benign	Het
Pramel18	T	A	4: 101,767,073 (GRCm39)	D107E	possibly damaging	Het
Primpol	A	T	8: 47,052,848 (GRCm39)	D154E	probably benign	Het
Rb1cc1	T	G	1: 6,318,966 (GRCm39)	V778G	possibly damaging	Het
Sgms1	A	T	19: 32,136,994 (GRCm39)	S191T	possibly damaging	Het
Sned1	T	A	1: 93,189,473 (GRCm39)	F303Y	probably damaging	Het
Sp9	T	A	2: 73,104,652 (GRCm39)	M402K	probably damaging	Het
Spon1	T	C	7: 113,365,621 (GRCm39)	L19P	probably damaging	Het
Spon1	T	A	7: 113,616,024 (GRCm39)	V297E	possibly damaging	Het
Tlr5	T	C	1: 182,802,004 (GRCm39)	I436T	probably benign	Het
Tmem63a	G	A	1: 180,790,679 (GRCm39)	D446N	possibly damaging	Het
Ugt1a6a	T	C	1: 88,066,871 (GRCm39)	Y226H	probably damaging	Het
Upf1	G	T	8: 70,786,000 (GRCm39)	N975K	possibly damaging	Het
Ush2a	G	A	1: 188,542,489 (GRCm39)	G3352S	probably benign	Het
Vmn1r39	T	C	6: 66,781,854 (GRCm39)	N155D	probably benign	Het
Vwa5b2	A	G	16: 20,417,076 (GRCm39)		probably benign	Het
Yipf4	G	A	17: 74,803,667 (GRCm39)		probably null	Het
Zdhhc17	T	C	10: 110,780,281 (GRCm39)	I624M	probably benign	Het
Zfhx4	G	A	3: 5,308,225 (GRCm39)	E484K	possibly damaging	Het
Zswim4	G	A	8: 84,938,676 (GRCm39)	P1069S	possibly 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
R0385:Tpcn2	UTSW	7	144,830,911 (GRCm39)	missense	probably damaging	1.00
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
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'- GTGCTCACCATCATGCTGTG -3'
(R):5'- TGAAGCTGGGCATCTTGCTG -3'

Sequencing Primer
(F):5'- CTCAGCAGCAGTCCAGATG -3'
(R):5'- CTGGGCATCTTGCTGTTTCAG -3'

Posted On

2015-04-17