Mutagenetix > Incidental Mutation

Incidental Mutation 'R4628:Tmtc2'

348972

Institutional Source

Beutler Lab

Gene Symbol

Tmtc2

Ensembl Gene

ENSMUSG00000036019

Gene Name

transmembrane and tetratricopeptide repeat containing 2

Synonyms

8430438D04Rik, D330034A10Rik

MMRRC Submission

041893-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R4628 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105023524-105410312 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105139511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 672 (S672T)

Ref Sequence

ENSEMBL: ENSMUSP00000061919 (fasta)

Gene Model

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

AlphaFold

Q56A06

Predicted Effect

probably benign
Transcript: ENSMUST00000061506
AA Change: S672T

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000061919
Gene: ENSMUSG00000036019
AA Change: S672T

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: ENSMUST00000143691

Meta Mutation Damage Score

0.1147

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	G	T	10: 79,851,022 (GRCm39)		probably null	Het
Abcb4	A	G	5: 8,957,399 (GRCm39)	D176G	probably benign	Het
Adamts18	C	T	8: 114,499,800 (GRCm39)	W371*	probably null	Het
Akr1c13	G	T	13: 4,247,869 (GRCm39)	V214F	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ankrd12	T	C	17: 66,292,989 (GRCm39)	T815A	probably benign	Het
Arid3a	T	C	10: 79,766,992 (GRCm39)	S89P	possibly damaging	Het
Ass1	A	T	2: 31,371,000 (GRCm39)	D63V	probably damaging	Het
Atxn3	T	A	12: 101,889,337 (GRCm39)		probably benign	Het
Bcap29	C	T	12: 31,676,806 (GRCm39)	S88N	probably benign	Het
Bsn	G	T	9: 107,990,434 (GRCm39)	P1773T	probably damaging	Het
Ccdc141	A	G	2: 76,890,024 (GRCm39)	S423P	probably benign	Het
Cfap46	A	T	7: 139,260,843 (GRCm39)	L85Q	probably damaging	Het
Chd8	T	C	14: 52,444,372 (GRCm39)	R438G	probably benign	Het
Chd9	T	A	8: 91,710,091 (GRCm39)	M289K	probably benign	Het
Col14a1	T	A	15: 55,313,229 (GRCm39)	Y26*	probably null	Het
Colec10	A	G	15: 54,323,127 (GRCm39)	T117A	possibly damaging	Het
Colq	C	A	14: 31,265,979 (GRCm39)	G178V	probably damaging	Het
Defb3	A	T	8: 19,345,156 (GRCm39)	R37S	probably benign	Het
Duox1	A	G	2: 122,176,733 (GRCm39)	Y1418C	probably damaging	Het
Engase	C	T	11: 118,375,731 (GRCm39)	S33F	probably damaging	Het
Erich3	A	T	3: 154,469,324 (GRCm39)	T1259S	probably damaging	Het
Fam98c	T	C	7: 28,854,693 (GRCm39)	T49A	possibly damaging	Het
Fhod3	T	A	18: 25,253,186 (GRCm39)	F1379I	possibly damaging	Het
Fndc3b	T	C	3: 27,610,277 (GRCm39)	I86V	probably benign	Het
Gm1123	A	G	9: 98,896,289 (GRCm39)	V197A	probably damaging	Het
Gm4847	A	T	1: 166,457,964 (GRCm39)	V463E	probably damaging	Het
Gm9772	T	C	17: 22,226,188 (GRCm39)	K32R	probably damaging	Het
Gm9804	T	C	12: 49,448,540 (GRCm39)	S161P	unknown	Het
Gpr162	C	T	6: 124,838,405 (GRCm39)	D82N	probably benign	Het
Grid2ip	T	C	5: 143,368,630 (GRCm39)	V650A	probably damaging	Het
Hs1bp3	T	C	12: 8,386,357 (GRCm39)	V253A	probably benign	Het
Hsd3b6	T	G	3: 98,713,895 (GRCm39)	K135Q	possibly damaging	Het
Igfn1	T	C	1: 135,887,468 (GRCm39)	D2532G	possibly damaging	Het
Iqgap2	A	G	13: 95,899,837 (GRCm39)	Y74H	probably benign	Het
Itga2	A	G	13: 115,014,229 (GRCm39)	V233A	probably benign	Het
Kat14	A	G	2: 144,246,140 (GRCm39)		probably benign	Het
Kctd21	A	G	7: 96,996,782 (GRCm39)	D85G	probably damaging	Het
Kera	A	G	10: 97,445,493 (GRCm39)	N284S	probably benign	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Lcmt1	T	A	7: 123,010,035 (GRCm39)	C183*	probably null	Het
Lcn5	A	G	2: 25,548,075 (GRCm39)	E28G	possibly damaging	Het
Leo1	A	T	9: 75,352,979 (GRCm39)	D174V	probably damaging	Het
Llgl1	A	T	11: 60,600,811 (GRCm39)	T636S	probably damaging	Het
Lrrc8e	T	A	8: 4,283,981 (GRCm39)	C69S	probably damaging	Het
Maml3	A	T	3: 51,703,891 (GRCm39)		probably benign	Het
Maz	G	T	7: 126,624,519 (GRCm39)	H334N	possibly damaging	Het
Mcm6	T	C	1: 128,279,285 (GRCm39)	D167G	probably benign	Het
Mrpl24	A	C	3: 87,829,436 (GRCm39)		probably null	Het
Myo18a	G	A	11: 77,714,962 (GRCm39)	V834M	probably damaging	Het
Neb	T	A	2: 52,198,362 (GRCm39)	R461*	probably null	Het
Notch4	C	A	17: 34,789,159 (GRCm39)	T486N	probably damaging	Het
Nphp3	A	G	9: 103,880,257 (GRCm39)	E93G	probably damaging	Het
Nup188	A	G	2: 30,219,358 (GRCm39)	Y858C	probably damaging	Het
Or13a17	T	A	7: 140,271,291 (GRCm39)	S158T	probably benign	Het
Or13a28	C	T	7: 140,218,297 (GRCm39)	R228C	probably benign	Het
Or1j11	T	A	2: 36,311,869 (GRCm39)	L153*	probably null	Het
Otud4	T	A	8: 80,366,597 (GRCm39)	D21E	possibly damaging	Het
Ovgp1	T	A	3: 105,887,639 (GRCm39)		probably null	Het
Pdia3	A	T	2: 121,244,620 (GRCm39)	N11I	possibly damaging	Het
Pex5	T	C	6: 124,380,079 (GRCm39)	D286G	possibly damaging	Het
Pias3	T	C	3: 96,607,136 (GRCm39)	I133T	probably damaging	Het
Postn	A	G	3: 54,279,578 (GRCm39)	D352G	probably damaging	Het
Prl7c1	T	C	13: 27,962,065 (GRCm39)	R81G	probably benign	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Rtraf	T	A	14: 19,867,155 (GRCm39)	N116I	probably benign	Het
Semp2l2a	T	A	8: 13,886,625 (GRCm39)	R489W	probably damaging	Het
Slc6a12	T	A	6: 121,328,951 (GRCm39)	C50*	probably null	Het
Spring1	G	C	5: 118,397,479 (GRCm39)	A154P	probably damaging	Het
Srcin1	T	A	11: 97,439,752 (GRCm39)	H126L	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ube2c	A	G	2: 164,614,093 (GRCm39)	N143S	possibly damaging	Het
Uroc1	A	T	6: 90,332,310 (GRCm39)	I556F	probably damaging	Het
Vmn1r124	T	A	7: 20,994,302 (GRCm39)	K81*	probably null	Het
Vmn1r57	T	A	7: 5,223,972 (GRCm39)	C166S	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Vmn2r68	A	G	7: 84,883,673 (GRCm39)	V144A	probably benign	Het
Vmn2r85	C	T	10: 130,261,235 (GRCm39)	M367I	probably benign	Het
Vwa3a	T	A	7: 120,392,598 (GRCm39)	N812K	probably benign	Het
Wdfy4	A	T	14: 32,824,515 (GRCm39)	N1301K	probably damaging	Het
Zfhx4	G	A	3: 5,468,536 (GRCm39)	R2898H	probably damaging	Het

Other mutations in Tmtc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00571:Tmtc2	APN	10	105,157,307 (GRCm39)	missense	possibly damaging	0.82
IGL01284:Tmtc2	APN	10	105,107,372 (GRCm39)	missense	possibly damaging	0.56
IGL01317:Tmtc2	APN	10	105,249,646 (GRCm39)	missense	probably damaging	1.00
IGL01327:Tmtc2	APN	10	105,184,340 (GRCm39)	missense	probably benign	0.15
IGL01637:Tmtc2	APN	10	105,205,946 (GRCm39)	missense	probably benign	0.00
IGL02176:Tmtc2	APN	10	105,184,354 (GRCm39)	missense	probably benign	0.00
IGL02354:Tmtc2	APN	10	105,107,387 (GRCm39)	missense	probably benign	0.00
IGL02361:Tmtc2	APN	10	105,107,387 (GRCm39)	missense	probably benign	0.00
IGL02514:Tmtc2	APN	10	105,025,960 (GRCm39)	missense	possibly damaging	0.94
IGL02540:Tmtc2	APN	10	105,249,200 (GRCm39)	missense	probably benign	0.45
IGL02625:Tmtc2	APN	10	105,206,407 (GRCm39)	missense	probably damaging	1.00
IGL02938:Tmtc2	APN	10	105,249,157 (GRCm39)	missense	probably damaging	1.00
IGL02939:Tmtc2	APN	10	105,206,411 (GRCm39)	missense	probably damaging	1.00
IGL03388:Tmtc2	APN	10	105,157,344 (GRCm39)	splice site	probably benign
PIT4402001:Tmtc2	UTSW	10	105,249,268 (GRCm39)	missense	probably damaging	1.00
PIT4449001:Tmtc2	UTSW	10	105,139,465 (GRCm39)	missense	probably damaging	1.00
R1424:Tmtc2	UTSW	10	105,249,229 (GRCm39)	missense	probably benign	0.00
R1462:Tmtc2	UTSW	10	105,409,566 (GRCm39)	nonsense	probably null
R1462:Tmtc2	UTSW	10	105,409,566 (GRCm39)	nonsense	probably null
R1529:Tmtc2	UTSW	10	105,139,519 (GRCm39)	missense	probably damaging	1.00
R1903:Tmtc2	UTSW	10	105,025,969 (GRCm39)	missense	probably benign	0.00
R2225:Tmtc2	UTSW	10	105,206,218 (GRCm39)	missense	probably benign	0.22
R4280:Tmtc2	UTSW	10	105,184,294 (GRCm39)	critical splice donor site	probably null
R4602:Tmtc2	UTSW	10	105,249,391 (GRCm39)	missense	probably benign
R4603:Tmtc2	UTSW	10	105,249,391 (GRCm39)	missense	probably benign
R4624:Tmtc2	UTSW	10	105,139,511 (GRCm39)	missense	probably benign	0.04
R4625:Tmtc2	UTSW	10	105,139,511 (GRCm39)	missense	probably benign	0.04
R4629:Tmtc2	UTSW	10	105,139,511 (GRCm39)	missense	probably benign	0.04
R5192:Tmtc2	UTSW	10	105,026,038 (GRCm39)	missense	probably damaging	1.00
R5769:Tmtc2	UTSW	10	105,205,907 (GRCm39)	missense	probably benign	0.00
R5846:Tmtc2	UTSW	10	105,107,302 (GRCm39)	intron	probably benign
R5892:Tmtc2	UTSW	10	105,249,366 (GRCm39)	missense	probably benign	0.08
R5897:Tmtc2	UTSW	10	105,249,459 (GRCm39)	missense	probably damaging	1.00
R6362:Tmtc2	UTSW	10	105,205,831 (GRCm39)	missense	probably damaging	1.00
R6391:Tmtc2	UTSW	10	105,409,551 (GRCm39)	missense	probably benign	0.06
R6640:Tmtc2	UTSW	10	105,409,610 (GRCm39)	start codon destroyed	probably benign	0.01
R6812:Tmtc2	UTSW	10	105,249,130 (GRCm39)	missense	probably benign	0.01
R6975:Tmtc2	UTSW	10	105,158,863 (GRCm39)	missense	probably benign	0.01
R7042:Tmtc2	UTSW	10	105,206,477 (GRCm39)	missense	probably damaging	1.00
R7063:Tmtc2	UTSW	10	105,184,386 (GRCm39)	missense	probably damaging	1.00
R7211:Tmtc2	UTSW	10	105,409,587 (GRCm39)	missense	probably benign	0.31
R7288:Tmtc2	UTSW	10	105,249,469 (GRCm39)	missense	probably damaging	1.00
R7576:Tmtc2	UTSW	10	105,206,482 (GRCm39)	missense	probably damaging	1.00
R7728:Tmtc2	UTSW	10	105,107,358 (GRCm39)	critical splice donor site	probably null
R7850:Tmtc2	UTSW	10	105,409,568 (GRCm39)	missense	probably benign	0.01
R8024:Tmtc2	UTSW	10	105,025,987 (GRCm39)	missense	probably benign	0.37
R8417:Tmtc2	UTSW	10	105,249,097 (GRCm39)	missense	probably damaging	0.98
R8697:Tmtc2	UTSW	10	105,205,831 (GRCm39)	missense	probably damaging	1.00
R8913:Tmtc2	UTSW	10	105,158,887 (GRCm39)	missense	probably damaging	1.00
R9409:Tmtc2	UTSW	10	105,159,419 (GRCm39)	missense	probably damaging	1.00
R9782:Tmtc2	UTSW	10	105,026,062 (GRCm39)	missense	probably damaging	1.00
Z1176:Tmtc2	UTSW	10	105,139,483 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCTGTTTAGGCCTCTAACAGG -3'
(R):5'- CAGGTGTATCTCCCTTATGGC -3'

Sequencing Primer
(F):5'- ACAGGATTGTTATCATTCATCAAGTG -3'
(R):5'- GATTCTCTCCTGATGAAATTTCCAG -3'

Posted On

2015-10-08