Mutagenetix > Incidental Mutations

Incidental Mutation 'R8417:Tmtc2'

653006

Institutional Source

Beutler Lab

Gene Symbol

Tmtc2

Ensembl Gene

ENSMUSG00000036019

Gene Name

transmembrane and tetratricopeptide repeat containing 2

Synonyms

D330034A10Rik, 8430438D04Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.195) question?

Stock #

R8417 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105187663-105574451 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105413236 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 212 (I212N)

Ref Sequence

ENSEMBL: ENSMUSP00000061919 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000061506
AA Change: I212N

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000061919
Gene: ENSMUSG00000036019
AA Change: I212N

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	T	C	9: 21,529,085		probably null	Het
Adamtsl1	G	A	4: 86,156,689	D98N	possibly damaging	Het
Adgrb3	T	C	1: 25,488,053	T601A	probably benign	Het
Ankrd33	C	A	15: 101,119,449	Q248K	probably benign	Het
Bsn	G	A	9: 108,111,452	A2367V	probably benign	Het
Casp12	G	T	9: 5,352,263	C155F	probably benign	Het
Clpp	T	C	17: 56,990,661	V81A	probably benign	Het
Cyp3a59	A	T	5: 146,090,685	I89F	possibly damaging	Het
Fam227b	C	A	2: 126,121,062	W178L	probably damaging	Het
Fcna	C	A	2: 25,624,851	R332L	probably damaging	Het
Gdf3	T	G	6: 122,606,607	H267P	probably damaging	Het
Gm4450	G	A	3: 98,456,415	T38I	probably benign	Het
Gm5592	A	G	7: 41,288,551	D419G	probably benign	Het
Gm6882	A	G	7: 21,427,295	V216A	probably damaging	Het
Gsdma3	A	G	11: 98,629,777	N78S	probably benign	Het
Hydin	T	C	8: 110,569,392	I3579T	probably benign	Het
Ighmbp2	T	C	19: 3,261,590	I942V	probably damaging	Het
Lamc1	A	G	1: 153,230,769	Y1266H	probably damaging	Het
Lgi3	T	C	14: 70,534,806	Y264H	probably benign	Het
Lmod2	G	A	6: 24,603,385	E120K	possibly damaging	Het
Mbl2	G	T	19: 30,239,484	C232F	probably damaging	Het
Morc1	T	C	16: 48,460,740	V214A	probably damaging	Het
Nlrp4b	T	A	7: 10,725,953	C827*	probably null	Het
Olfr1086	A	G	2: 86,676,805	F176S	probably damaging	Het
Olfr358	T	A	2: 37,004,646	T323S	probably benign	Het
Pbrm1	T	A	14: 31,027,462	H72Q	possibly damaging	Het
Plekhm2	T	C	4: 141,627,825	I944V	probably benign	Het
Prdm8	A	T	5: 98,184,531	D97V	probably damaging	Het
Preb	G	A	5: 30,960,117		probably benign	Het
Prkcd	T	C	14: 30,609,251	K56E	probably benign	Het
Slit3	A	T	11: 35,610,611	I391F	probably damaging	Het
Spata19	A	G	9: 27,397,970	S91G	probably benign	Het
Stag3	A	G	5: 138,308,588	T1134A	probably benign	Het
Tgfbr2	A	T	9: 116,110,129	M235K	probably benign	Het
Tnfrsf26	C	T	7: 143,614,902	R133K	probably benign	Het
Trim43c	C	A	9: 88,843,138	Q238K	probably benign	Het
Vcan	T	C	13: 89,688,743	D2894G	probably benign	Het
Wisp3	T	A	10: 39,151,211	R342*	probably null	Het
Zeb2	C	T	2: 45,022,996	S105N	probably damaging	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
R5892:Tmtc2	UTSW	10	105413505	missense	probably benign	0.08
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
Z1176:Tmtc2	UTSW	10	105303622	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCAGCTTGAGAATCACAGG -3'
(R):5'- GTCCCTGCTCTGCTACATTAAG -3'

Sequencing Primer
(F):5'- CTTGAGAATCACAGGAAGACGTTC -3'
(R):5'- GCACTGTTCTACAAGAGGCTACTC -3'

Posted On

2020-10-20