Mutagenetix > Incidental Mutation

Incidental Mutation 'R4775:Tpcn2'

367849

Institutional Source

Beutler Lab

Gene Symbol

Tpcn2

Ensembl Gene

ENSMUSG00000048677

Gene Name

two pore segment channel 2

Synonyms

D830047E22Rik

MMRRC Submission

041991-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4775 (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 144821079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 325 (L325P)

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: L325P

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

SMART Domains

Protein: ENSMUSP00000061308
Gene: ENSMUSG00000048677
AA Change: L325P

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: L301P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000208328
AA Change: L325P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000208841
AA Change: L325P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000209047
AA Change: L325P

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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: 84,134,165 (GRCm39)	Y426C	probably damaging	Het
Adam7	A	G	14: 68,745,361 (GRCm39)	I621T	probably benign	Het
Adamts1	A	T	16: 85,597,278 (GRCm39)	Y260*	probably null	Het
Adgrf1	C	T	17: 43,622,054 (GRCm39)	L764F	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Atp9b	A	G	18: 80,808,984 (GRCm39)		probably null	Het
C5ar2	A	C	7: 15,971,540 (GRCm39)	L129R	probably damaging	Het
Ccdc174	G	A	6: 91,867,875 (GRCm39)		probably null	Het
Cidec	T	C	6: 113,411,695 (GRCm39)	M1V	probably null	Het
Clec16a	G	T	16: 10,456,778 (GRCm39)	R663L	probably damaging	Het
Col25a1	T	C	3: 129,976,468 (GRCm39)	C118R	possibly damaging	Het
Cox6b2	A	G	7: 4,755,074 (GRCm39)	C67R	probably damaging	Het
Cspg4b	A	T	13: 113,454,229 (GRCm39)	I92F	possibly damaging	Het
Cwf19l2	A	G	9: 3,430,973 (GRCm39)	Y435C	probably benign	Het
Dapk1	T	A	13: 60,897,156 (GRCm39)	S792T	probably benign	Het
Dis3l	T	A	9: 64,238,190 (GRCm39)	N101Y	probably benign	Het
Dsg4	A	G	18: 20,604,184 (GRCm39)	T884A	possibly damaging	Het
Dvl1	T	C	4: 155,942,584 (GRCm39)	W617R	probably benign	Het
Eml5	A	G	12: 98,768,566 (GRCm39)	V1503A	probably benign	Het
Engase	A	T	11: 118,373,497 (GRCm39)	D280V	probably benign	Het
F11r	T	C	1: 171,289,209 (GRCm39)	S224P	probably damaging	Het
Fanca	A	G	8: 124,023,045 (GRCm39)	V564A	probably damaging	Het
Foxj2	G	T	6: 122,810,230 (GRCm39)	Q196H	probably benign	Het
Gle1	T	C	2: 29,826,073 (GRCm39)	W51R	possibly damaging	Het
Gm94	A	G	18: 43,925,836 (GRCm39)		probably null	Het
Gm9830	A	T	9: 44,375,721 (GRCm39)		noncoding transcript	Het
Gpaa1	T	A	15: 76,218,891 (GRCm39)		probably null	Het
Grin1	C	T	2: 25,182,475 (GRCm39)	A929T	possibly damaging	Het
Grm7	T	A	6: 110,891,332 (GRCm39)	D188E	probably damaging	Het
Gtf2ird2	T	C	5: 134,242,970 (GRCm39)	F395L	probably benign	Het
Lipo3	C	A	19: 33,757,795 (GRCm39)	G225C	probably damaging	Het
Lonrf2	T	A	1: 38,857,140 (GRCm39)		probably null	Het
Marveld2	A	G	13: 100,753,303 (GRCm39)		probably benign	Het
Mpl	A	G	4: 118,305,777 (GRCm39)	L416P	probably damaging	Het
Mppe1	A	G	18: 67,359,930 (GRCm39)	L312P	possibly damaging	Het
Mpzl3	T	A	9: 44,977,730 (GRCm39)	S113T	probably damaging	Het
Mylk3	G	A	8: 86,085,689 (GRCm39)	Q149*	probably null	Het
Myt1	T	A	2: 181,464,470 (GRCm39)	I968N	probably damaging	Het
Ndc80	A	G	17: 71,821,265 (GRCm39)	Y228H	probably damaging	Het
Nelfcd	T	G	2: 174,268,369 (GRCm39)	C520G	probably damaging	Het
Nfrkb	C	A	9: 31,330,345 (GRCm39)	T1199K	possibly damaging	Het
Nipa2	A	G	7: 55,585,611 (GRCm39)	I109T	probably benign	Het
Nlrp4e	A	G	7: 23,042,525 (GRCm39)	T804A	probably benign	Het
Nsf	A	T	11: 103,763,419 (GRCm39)	I395K	possibly damaging	Het
Nt5c1b	G	A	12: 10,425,449 (GRCm39)	V331I	probably damaging	Het
Or13a28	A	T	7: 140,217,829 (GRCm39)	I72F	probably damaging	Het
Or1e29	A	G	11: 73,667,377 (GRCm39)	Y259H	probably damaging	Het
Pask	T	C	1: 93,265,246 (GRCm39)	D3G	probably damaging	Het
Pglyrp3	T	C	3: 91,933,037 (GRCm39)	V110A	possibly damaging	Het
Ppp4r3a	C	T	12: 101,019,825 (GRCm39)	V377M	probably damaging	Het
Prr12	A	G	7: 44,700,749 (GRCm39)		probably benign	Het
Ptdss1	G	A	13: 67,135,922 (GRCm39)		probably null	Het
Qser1	A	G	2: 104,620,246 (GRCm39)	S189P	probably damaging	Het
Rph3a	T	A	5: 121,092,551 (GRCm39)	Y350F	probably benign	Het
Skint4	A	T	4: 111,993,261 (GRCm39)	H328L	probably damaging	Het
Smyd4	G	A	11: 75,282,018 (GRCm39)	C497Y	probably damaging	Het
Stk11ip	T	C	1: 75,510,497 (GRCm39)	W864R	possibly damaging	Het
Stkld1	T	A	2: 26,841,757 (GRCm39)	V543E	probably damaging	Het
Taok2	A	G	7: 126,469,940 (GRCm39)	S963P	probably damaging	Het
Tars2	A	G	3: 95,653,959 (GRCm39)	L354P	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trappc3l	C	G	10: 33,974,807 (GRCm39)	H96Q	probably benign	Het
Trim66	A	T	7: 109,056,796 (GRCm39)	Y1120*	probably null	Het
Trio	G	A	15: 27,881,428 (GRCm39)	Q548*	probably null	Het
Wipf2	T	A	11: 98,781,558 (GRCm39)	D32E	probably benign	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
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'- ATACAGCTCCCGGTGGAATATC -3'
(R):5'- TGTGACTGTCCTTTGATGCC -3'

Sequencing Primer
(F):5'- TGGAATATCCAGTCTGGCGC -3'
(R):5'- ACTGTCCTTTGATGCCTAAGG -3'

Posted On

2015-12-29