Mutagenetix > Incidental Mutation

Incidental Mutation 'R6299:Tpcn2'

508975

Institutional Source

Beutler Lab

Gene Symbol

Tpcn2

Ensembl Gene

ENSMUSG00000048677

Gene Name

two pore segment channel 2

Synonyms

D830047E22Rik

MMRRC Submission

044465-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6299 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144740261-144837748 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144815980 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 403 (S403T)

Ref Sequence

ENSEMBL: ENSMUSP00000147224 (fasta)

Gene Model

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

AlphaFold

Q8BWC0

Predicted Effect

probably damaging
Transcript: ENSMUST00000058022
AA Change: S403T

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

SMART Domains

Protein: ENSMUSP00000061308
Gene: ENSMUSG00000048677
AA Change: S403T

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: S379T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208281

Predicted Effect

probably damaging
Transcript: ENSMUST00000208328
AA Change: S403T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208841
AA Change: S403T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208867

Predicted Effect

probably damaging
Transcript: ENSMUST00000209047
AA Change: S403T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.1274

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bms1	G	A	6: 118,395,476 (GRCm39)	R24W	probably damaging	Het
C130050O18Rik	A	T	5: 139,400,126 (GRCm39)	S60C	probably damaging	Het
Cabcoco1	A	G	10: 68,272,720 (GRCm39)	Y222H	probably damaging	Het
Cc2d1b	T	C	4: 108,485,335 (GRCm39)	V559A	probably benign	Het
Cgrrf1	T	A	14: 47,077,647 (GRCm39)	N46K	probably damaging	Het
Clca3a1	T	C	3: 144,464,275 (GRCm39)	D114G	probably damaging	Het
Clcnkb	T	A	4: 141,138,034 (GRCm39)	L279F	probably damaging	Het
Cr2	T	C	1: 194,850,954 (GRCm39)	T151A	probably damaging	Het
Creb3l3	C	T	10: 80,924,447 (GRCm39)	E236K	probably damaging	Het
Dcstamp	T	A	15: 39,618,599 (GRCm39)	V336D	probably damaging	Het
Dop1a	T	G	9: 86,386,265 (GRCm39)	F379V	probably damaging	Het
Esf1	T	C	2: 139,965,554 (GRCm39)	K714R	possibly damaging	Het
Exoc3l4	A	T	12: 111,388,513 (GRCm39)	M1L	possibly damaging	Het
Extl3	T	C	14: 65,314,121 (GRCm39)	R354G	probably benign	Het
Fastkd3	T	C	13: 68,735,855 (GRCm39)	L535P	probably damaging	Het
Gab2	A	G	7: 96,731,066 (GRCm39)	T12A	probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Golga4	T	A	9: 118,386,438 (GRCm39)	S1187T	probably benign	Het
Haus3	A	G	5: 34,325,140 (GRCm39)	V173A	probably benign	Het
Herc2	T	A	7: 55,784,803 (GRCm39)	Y1416N	possibly damaging	Het
Hspg2	A	G	4: 137,272,016 (GRCm39)	Y2566C	probably damaging	Het
Inpp5f	A	T	7: 128,237,884 (GRCm39)	T34S	possibly damaging	Het
Iqck	G	A	7: 118,475,485 (GRCm39)	G70S	unknown	Het
Jade1	T	C	3: 41,568,160 (GRCm39)	F743L	probably damaging	Het
Kif5a	T	C	10: 127,069,690 (GRCm39)	K845R	probably damaging	Het
Klhl30	A	G	1: 91,285,636 (GRCm39)		probably null	Het
Map2k1	T	C	9: 64,121,772 (GRCm39)	D67G	possibly damaging	Het
Mcm9	A	C	10: 53,413,777 (GRCm39)	C434W	probably damaging	Het
Muc4	T	G	16: 32,570,853 (GRCm39)	S638A	possibly damaging	Het
Nectin3	A	G	16: 46,284,345 (GRCm39)	V113A	probably damaging	Het
Nfya	T	C	17: 48,699,938 (GRCm39)		probably benign	Het
Nup155	G	T	15: 8,157,922 (GRCm39)	A460S	possibly damaging	Het
Nup210	T	C	6: 91,051,270 (GRCm39)	E371G	possibly damaging	Het
Olfm3	T	C	3: 114,914,632 (GRCm39)	S228P	probably damaging	Het
Or52n20	C	A	7: 104,320,075 (GRCm39)	D55E	probably benign	Het
Or8b51	A	T	9: 38,569,073 (GRCm39)	I205N	possibly damaging	Het
Plin1	A	C	7: 79,371,224 (GRCm39)	V500G	probably benign	Het
Ppfia1	A	C	7: 144,064,049 (GRCm39)	M513R	probably benign	Het
Ppp1cb	T	A	5: 32,640,798 (GRCm39)	C27*	probably null	Het
Prss22	T	A	17: 24,215,408 (GRCm39)	I123F	probably damaging	Het
Rbm24	G	T	13: 46,572,549 (GRCm39)	V15L	probably damaging	Het
Reln	T	C	5: 22,491,942 (GRCm39)	T97A	possibly damaging	Het
Sipa1l2	T	C	8: 126,180,203 (GRCm39)	T1065A	possibly damaging	Het
Sipa1l3	A	C	7: 29,065,974 (GRCm39)		probably null	Het
Snrnp200	T	A	2: 127,064,081 (GRCm39)	Y689*	probably null	Het
Srcap	T	C	7: 127,129,626 (GRCm39)		probably benign	Het
Sv2a	T	C	3: 96,095,565 (GRCm39)		probably null	Het
Tcf12	A	T	9: 71,766,211 (GRCm39)	V474D	probably damaging	Het
Trim65	C	A	11: 116,017,377 (GRCm39)	A362S	probably benign	Het
Trmt1	T	A	8: 85,423,919 (GRCm39)	C36*	probably null	Het
Trpm8	T	A	1: 88,282,201 (GRCm39)	L699Q	probably damaging	Het
Ube2m	A	C	7: 12,769,797 (GRCm39)	I116R	probably damaging	Het
Ulk1	T	C	5: 110,938,963 (GRCm39)	K492E	possibly damaging	Het
Usp40	T	A	1: 87,925,649 (GRCm39)	K193N	probably damaging	Het
Vmn1r3	A	G	4: 3,185,098 (GRCm39)	S70P	possibly damaging	Het
Vmn2r2	T	A	3: 64,024,074 (GRCm39)	K836*	probably null	Het
Vmn2r75	T	A	7: 85,814,482 (GRCm39)	H337L	probably benign	Het
Wars1	G	A	12: 108,827,309 (GRCm39)	T437M	probably benign	Het
Zdhhc5	T	C	2: 84,520,825 (GRCm39)	T451A	probably benign	Het
Zfp788	T	G	7: 41,297,965 (GRCm39)	H180Q	possibly damaging	Het
Zkscan7	A	G	9: 122,717,782 (GRCm39)	E59G	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
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
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
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'- ACCTTCACTGAGCTGGAAGG -3'
(R):5'- GTGTGACATGGTTTACGCCC -3'

Sequencing Primer
(F):5'- CTGAGCTGGAAGGAGGGGTAC -3'
(R):5'- CGGGTCAGTAGGCATTCAGATC -3'

Posted On

2018-04-02