Mutagenetix > Incidental Mutation

Incidental Mutation 'R5892:Tmtc2'

457251

Institutional Source

Beutler Lab

Gene Symbol

Tmtc2

Ensembl Gene

ENSMUSG00000036019

Gene Name

transmembrane and tetratricopeptide repeat containing 2

Synonyms

D330034A10Rik, 8430438D04Rik

MMRRC Submission

044093-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R5892 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105187663-105574451 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 105413505 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 122 (M122I)

Ref Sequence

ENSEMBL: ENSMUSP00000061919 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061506]

AlphaFold

Q56A06

Predicted Effect

probably benign
Transcript: ENSMUST00000061506
AA Change: M122I

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000061919
Gene: ENSMUSG00000036019
AA Change: M122I

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
transmembrane domain	223	245	N/A	INTRINSIC
Pfam:DUF1736	247	321	7.3e-33	PFAM
transmembrane domain	393	415	N/A	INTRINSIC
transmembrane domain	425	444	N/A	INTRINSIC
TPR	493	526	1.6e-3	SMART
TPR	527	560	6.84e-3	SMART
TPR	561	594	2.52e-1	SMART
TPR	606	639	3.12e-6	SMART
TPR	643	676	3.99e1	SMART
TPR	677	710	7.12e-1	SMART
low complexity region	729	739	N/A	INTRINSIC
TPR	745	778	1.51e1	SMART
TPR	779	812	1.43e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139741

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143691

Meta Mutation Damage Score

0.0878

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

98% (56/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an integral membrane protein localized to the endoplasmic reticulum (ER). The encoded protein contains many tetratricopeptide repeats, sequences known for being involved in protein-protein interactions. This protein binds both the calcium uptake pump SERCA2B and the carbohydrate-binding chaperone calnexin, and it appears to play a role in calcium homeostasis in the ER. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930524J08Rik	G	T	5: 99,979,265		probably benign	Het
Abcb11	C	T	2: 69,261,500	A893T	probably damaging	Het
Adtrp	A	T	13: 41,828,206	N30K	probably benign	Het
Alms1	T	A	6: 85,620,903	S904T	probably damaging	Het
Cep170	T	A	1: 176,755,387		probably null	Het
Cntnap3	A	G	13: 64,799,180	V145A	probably damaging	Het
Dclre1a	T	C	19: 56,547,140	E4G	probably benign	Het
Depdc1a	G	C	3: 159,526,669	A686P	probably damaging	Het
Dnah7b	T	C	1: 46,337,593		probably null	Het
Enox1	A	G	14: 77,486,017		probably benign	Het
Fam107b	A	G	2: 3,778,564	E268G	probably damaging	Het
Fer1l6	A	G	15: 58,564,068	S437G	probably benign	Het
Flnb	C	A	14: 7,907,183	T1252K	probably damaging	Het
Fubp1	A	G	3: 152,218,314		probably benign	Het
Gm20402	G	A	3: 52,268,949	A50T	probably benign	Het
Gpr137b	T	C	13: 13,359,406	Y355C		Het
Gzmk	C	T	13: 113,173,922		probably null	Het
Ino80	A	T	2: 119,439,547		probably benign	Het
Ints8	T	C	4: 11,223,813	T677A	probably damaging	Het
Kat6a	A	G	8: 22,938,289	E1220G	probably damaging	Het
Lrfn5	A	G	12: 61,843,418	T498A	probably damaging	Het
Lrp2	T	A	2: 69,442,776	T4043S	probably benign	Het
Malrd1	A	G	2: 15,614,267	N314S	probably benign	Het
Mfsd1	A	G	3: 67,589,829		probably null	Het
Muc1	C	T	3: 89,230,993	P381S	probably benign	Het
Myh2	A	T	11: 67,185,176	K730*	probably null	Het
Nat3	T	A	8: 67,547,938	N156K	probably benign	Het
Nelfe	T	C	17: 34,854,669		probably benign	Het
Nlrp1a	A	T	11: 71,099,645	L927Q	probably damaging	Het
P4ha2	A	G	11: 54,120,188	Y343C	probably damaging	Het
Pclo	A	T	5: 14,521,171	Q190L	probably damaging	Het
Pde8a	A	G	7: 81,295,691	N183S	probably damaging	Het
Plekha2	C	T	8: 25,052,365	V278I	probably benign	Het
Plekha6	G	C	1: 133,272,307	R208P	possibly damaging	Het
Plxnb1	T	C	9: 109,111,707	L1550P	probably damaging	Het
Ppox	C	T	1: 171,277,461	V385I	probably damaging	Het
Prdm16	T	C	4: 154,323,259	D1170G	possibly damaging	Het
Prmt5	A	T	14: 54,509,911	S470T	probably damaging	Het
Robo2	T	A	16: 73,895,780		probably benign	Het
Siglecg	G	A	7: 43,412,204		probably benign	Het
Slc30a5	T	C	13: 100,813,302	N367S	probably damaging	Het
Tex29	C	T	8: 11,854,288		probably benign	Het
Tmem117	T	A	15: 94,638,139	V18E	probably damaging	Het
Tpr	T	A	1: 150,407,400	N287K	probably benign	Het
Unc93b1	A	T	19: 3,943,632	D358V	probably damaging	Het
Vrk2	A	T	11: 26,534,372		probably benign	Het
Wdr24	A	T	17: 25,827,986	Q671L	probably benign	Het
Zfp110	C	T	7: 12,848,478	T351I	probably benign	Het
Zfp963	T	C	8: 69,743,377	D142G	probably benign	Het

Other mutations in Tmtc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00571:Tmtc2	APN	10	105321446	missense	possibly damaging	0.82
IGL01284:Tmtc2	APN	10	105271511	missense	possibly damaging	0.56
IGL01317:Tmtc2	APN	10	105413785	missense	probably damaging	1.00
IGL01327:Tmtc2	APN	10	105348479	missense	probably benign	0.15
IGL01637:Tmtc2	APN	10	105370085	missense	probably benign	0.00
IGL02176:Tmtc2	APN	10	105348493	missense	probably benign	0.00
IGL02354:Tmtc2	APN	10	105271526	missense	probably benign	0.00
IGL02361:Tmtc2	APN	10	105271526	missense	probably benign	0.00
IGL02514:Tmtc2	APN	10	105190099	missense	possibly damaging	0.94
IGL02540:Tmtc2	APN	10	105413339	missense	probably benign	0.45
IGL02625:Tmtc2	APN	10	105370546	missense	probably damaging	1.00
IGL02938:Tmtc2	APN	10	105413296	missense	probably damaging	1.00
IGL02939:Tmtc2	APN	10	105370550	missense	probably damaging	1.00
IGL03388:Tmtc2	APN	10	105321483	splice site	probably benign
PIT4402001:Tmtc2	UTSW	10	105413407	missense	probably damaging	1.00
PIT4449001:Tmtc2	UTSW	10	105303604	missense	probably damaging	1.00
R1424:Tmtc2	UTSW	10	105413368	missense	probably benign	0.00
R1462:Tmtc2	UTSW	10	105573705	nonsense	probably null
R1462:Tmtc2	UTSW	10	105573705	nonsense	probably null
R1529:Tmtc2	UTSW	10	105303658	missense	probably damaging	1.00
R1903:Tmtc2	UTSW	10	105190108	missense	probably benign	0.00
R2225:Tmtc2	UTSW	10	105370357	missense	probably benign	0.22
R4280:Tmtc2	UTSW	10	105348433	critical splice donor site	probably null
R4602:Tmtc2	UTSW	10	105413530	missense	probably benign
R4603:Tmtc2	UTSW	10	105413530	missense	probably benign
R4624:Tmtc2	UTSW	10	105303650	missense	probably benign	0.04
R4625:Tmtc2	UTSW	10	105303650	missense	probably benign	0.04
R4628:Tmtc2	UTSW	10	105303650	missense	probably benign	0.04
R4629:Tmtc2	UTSW	10	105303650	missense	probably benign	0.04
R5192:Tmtc2	UTSW	10	105190177	missense	probably damaging	1.00
R5769:Tmtc2	UTSW	10	105370046	missense	probably benign	0.00
R5846:Tmtc2	UTSW	10	105271441	intron	probably benign
R5897:Tmtc2	UTSW	10	105413598	missense	probably damaging	1.00
R6362:Tmtc2	UTSW	10	105369970	missense	probably damaging	1.00
R6391:Tmtc2	UTSW	10	105573690	missense	probably benign	0.06
R6640:Tmtc2	UTSW	10	105573749	start codon destroyed	probably benign	0.01
R6812:Tmtc2	UTSW	10	105413269	missense	probably benign	0.01
R6975:Tmtc2	UTSW	10	105323002	missense	probably benign	0.01
R7042:Tmtc2	UTSW	10	105370616	missense	probably damaging	1.00
R7063:Tmtc2	UTSW	10	105348525	missense	probably damaging	1.00
R7211:Tmtc2	UTSW	10	105573726	missense	probably benign	0.31
R7288:Tmtc2	UTSW	10	105413608	missense	probably damaging	1.00
R7576:Tmtc2	UTSW	10	105370621	missense	probably damaging	1.00
R7728:Tmtc2	UTSW	10	105271497	critical splice donor site	probably null
R7850:Tmtc2	UTSW	10	105573707	missense	probably benign	0.01
R8024:Tmtc2	UTSW	10	105190126	missense	probably benign	0.37
R8417:Tmtc2	UTSW	10	105413236	missense	probably damaging	0.98
R8697:Tmtc2	UTSW	10	105369970	missense	probably damaging	1.00
R8913:Tmtc2	UTSW	10	105323026	missense	probably damaging	1.00
R9409:Tmtc2	UTSW	10	105323558	missense	probably damaging	1.00
R9782:Tmtc2	UTSW	10	105190201	missense	probably damaging	1.00
Z1176:Tmtc2	UTSW	10	105303622	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCTTTCCAAAGCATGCTGC -3'
(R):5'- CTCTTCTAACCCACAGCGGTAG -3'

Sequencing Primer
(F):5'- GCATCCAGCGCACAATCCAG -3'
(R):5'- GGTAGCCACAAGTCCTACCG -3'

Posted On

2017-02-15