Mutagenetix > Incidental Mutation

Incidental Mutation 'R9180:Tpcn1'

696951

Institutional Source

Beutler Lab

Gene Symbol

Tpcn1

Ensembl Gene

ENSMUSG00000032741

Gene Name

two pore channel 1

Synonyms

5730403B01Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9180 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120672222-120726731 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 120694000 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 199 (V199L)

Ref Sequence

ENSEMBL: ENSMUSP00000042188 (fasta)

Gene Model

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

AlphaFold

Q9EQJ0

Predicted Effect

probably benign
Transcript: ENSMUST00000046426
AA Change: V199L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000042188
Gene: ENSMUSG00000032741
AA Change: V199L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	G	A	3: 137,889,470 (GRCm39)	P49L	probably benign	Het
Adam34l	T	A	8: 44,079,970 (GRCm39)	R85*	probably null	Het
Anapc2	C	T	2: 25,163,303 (GRCm39)	T180I	probably benign	Het
Ankib1	A	T	5: 3,756,276 (GRCm39)	H556Q	probably damaging	Het
Aox1	A	T	1: 58,378,777 (GRCm39)	K1009*	probably null	Het
Apob	C	T	12: 8,047,925 (GRCm39)	P968L	probably damaging	Het
Bpi	T	A	2: 158,116,608 (GRCm39)	F335Y	probably benign	Het
Cabcoco1	T	C	10: 68,272,719 (GRCm39)	Y222C	probably damaging	Het
Camk2b	G	T	11: 5,939,332 (GRCm39)	C273*	probably null	Het
Catsperd	G	A	17: 56,968,252 (GRCm39)	D546N	probably benign	Het
Cenpb	C	T	2: 131,021,463 (GRCm39)	G112S	probably damaging	Het
Col6a5	A	G	9: 105,739,178 (GRCm39)	L2585P	probably damaging	Het
Cop1	A	G	1: 159,147,339 (GRCm39)	E555G	probably damaging	Het
Coro1b	T	C	19: 4,203,392 (GRCm39)	V411A	probably benign	Het
Cyfip2	G	A	11: 46,176,920 (GRCm39)	R87C	probably damaging	Het
Dthd1	A	C	5: 63,045,410 (GRCm39)	I725L	probably benign	Het
Dydc1	A	C	14: 40,800,054 (GRCm39)	E20A	probably damaging	Het
Ermp1	T	C	19: 29,609,845 (GRCm39)	I317V	probably benign	Het
Fat4	A	G	3: 38,942,556 (GRCm39)	N483S	possibly damaging	Het
Fbxo33	A	G	12: 59,251,095 (GRCm39)		probably null	Het
Fcgbp	G	T	7: 27,803,198 (GRCm39)	E1601*	probably null	Het
Fer1l5	A	T	1: 36,449,999 (GRCm39)	S1118C	probably null	Het
Fer1l6	T	C	15: 58,494,230 (GRCm39)	V1141A	probably benign	Het
Flnb	C	T	14: 7,818,219 (GRCm38)	T23M	probably damaging	Het
Fsip2	T	C	2: 82,815,574 (GRCm39)	L3769P	possibly damaging	Het
Gna11	T	C	10: 81,370,942 (GRCm39)	K98R		Het
Gpat3	A	T	5: 101,032,230 (GRCm39)	T176S	probably benign	Het
Gprc5b	A	G	7: 118,583,542 (GRCm39)	L109P	probably damaging	Het
Hadha	A	T	5: 30,340,038 (GRCm39)	N246K	probably benign	Het
Haus3	G	A	5: 34,324,835 (GRCm39)	Q275*	probably null	Het
Higd1b	A	G	11: 102,728,090 (GRCm39)	Y44C	possibly damaging	Het
Igkv1-131	T	C	6: 67,743,218 (GRCm39)	K55R	probably benign	Het
Igtp	G	T	11: 58,098,091 (GRCm39)	E421*	probably null	Het
Kcnk3	G	T	5: 30,745,532 (GRCm39)		probably benign	Het
Krtap4-13	A	T	11: 99,700,165 (GRCm39)	C165S	unknown	Het
Lrfn4	T	C	19: 4,663,353 (GRCm39)	R394G	probably benign	Het
Lrrc7	A	C	3: 157,867,011 (GRCm39)	L910R	possibly damaging	Het
Mbtd1	A	G	11: 93,823,218 (GRCm39)	D568G	probably damaging	Het
Mettl16	T	A	11: 74,693,826 (GRCm39)	I279N	probably benign	Het
Mmrn2	A	G	14: 34,121,158 (GRCm39)	H676R	probably benign	Het
Mrgprg	T	C	7: 143,318,350 (GRCm39)	K254R	probably benign	Het
Muc16	A	C	9: 18,554,038 (GRCm39)	V4085G	unknown	Het
Mvp	T	C	7: 126,591,822 (GRCm39)	Q456R	probably benign	Het
Myf6	T	C	10: 107,329,318 (GRCm39)	D209G	probably benign	Het
Ociad1	A	G	5: 73,467,725 (GRCm39)	D167G	probably benign	Het
Or11l3	A	G	11: 58,516,062 (GRCm39)	L270P	probably benign	Het
Or1l4	A	G	2: 37,091,292 (GRCm39)	D13G	probably benign	Het
Or51f23b	T	A	7: 102,402,734 (GRCm39)	Y134F	probably damaging	Het
Or5m3	T	G	2: 85,838,325 (GRCm39)	D68E	probably damaging	Het
Or6c1b	T	C	10: 129,272,858 (GRCm39)	F59S	probably damaging	Het
Phf20	A	G	2: 156,114,537 (GRCm39)	D295G	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Ppp1r13b	A	T	12: 111,811,416 (GRCm39)	H157Q	probably benign	Het
Prss3b	A	G	6: 41,008,681 (GRCm39)	L211P	probably damaging	Het
Rbm26	C	T	14: 105,391,039 (GRCm39)	R149H	unknown	Het
Reg3d	C	T	6: 78,355,443 (GRCm39)	C16Y	possibly damaging	Het
Rrp36	A	G	17: 46,978,980 (GRCm39)	F193L	possibly damaging	Het
Rtca	A	T	3: 116,282,905 (GRCm39)	M361K	probably benign	Het
Ryr3	T	G	2: 112,491,981 (GRCm39)	D3790A	probably damaging	Het
Serpina3n	C	A	12: 104,377,440 (GRCm39)	A231E	probably benign	Het
Sh2d2a	A	G	3: 87,759,070 (GRCm39)	D224G	possibly damaging	Het
Sh3bp2	A	T	5: 34,718,377 (GRCm39)	K526*	probably null	Het
Slc12a2	A	G	18: 58,069,469 (GRCm39)	T1017A	possibly damaging	Het
Slc12a8	T	C	16: 33,361,397 (GRCm39)	L93P	probably damaging	Het
Slc5a6	A	G	5: 31,195,190 (GRCm39)	I469T	probably damaging	Het
Smarcc1	T	A	9: 109,964,728 (GRCm39)	V95D	probably damaging	Het
Snap29	T	A	16: 17,224,163 (GRCm39)	S59R	probably damaging	Het
Tmem121b	T	A	6: 120,469,784 (GRCm39)	Y311F	probably damaging	Het
Ttn	T	C	2: 76,618,721 (GRCm39)	I16188V	probably benign	Het
Usp24	T	C	4: 106,216,247 (GRCm39)	I366T	possibly damaging	Het
Utrn	T	A	10: 12,545,463 (GRCm39)	E1727D	probably damaging	Het
Vav2	T	C	2: 27,182,701 (GRCm39)	D301G	probably damaging	Het
Vmn2r104	T	C	17: 20,263,087 (GRCm39)	T125A	probably benign	Het
Vmn2r73	T	G	7: 85,507,123 (GRCm39)	I730L	probably benign	Het
Zfp352	A	T	4: 90,113,118 (GRCm39)	K419N	probably benign	Het
Zfp84	C	A	7: 29,474,873 (GRCm39)	S48R	probably damaging	Het
Zfp947	A	T	17: 22,364,386 (GRCm39)	H429Q	probably 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
R4948:Tpcn1	UTSW	5	120,694,596 (GRCm39)	missense	probably benign	0.15
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
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'- AGAGCTGAGAAGTCTGCCTG -3'
(R):5'- CTCACTGTTGCTGTTAAGAGAGG -3'

Sequencing Primer
(F):5'- AAGTCTGCCTGAAGCTACTG -3'
(R):5'- TTGCTGTTAAGAGAGGCGGAAATG -3'

Posted On

2022-02-07