Mutagenetix > Incidental Mutation

Incidental Mutation 'R4625:Tmtc2'

346502

Institutional Source

Beutler Lab

Gene Symbol

Tmtc2

Ensembl Gene

ENSMUSG00000036019

Gene Name

transmembrane and tetratricopeptide repeat containing 2

Synonyms

8430438D04Rik, D330034A10Rik

MMRRC Submission

041890-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R4625 (G1)

Quality Score

225

Status

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: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (75/77)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	C	5: 144,981,693 (GRCm39)	E176A	possibly damaging	Het
Abcc2	A	G	19: 43,792,178 (GRCm39)	I320V	probably benign	Het
Abtb1	C	T	6: 88,813,269 (GRCm39)	A466T	probably benign	Het
Ak6	C	A	13: 100,792,181 (GRCm39)	T208K	probably benign	Het
Albfm1	G	T	5: 90,719,611 (GRCm39)	V236L	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Anapc15	T	A	7: 101,550,239 (GRCm39)		probably benign	Het
Anxa2r1	G	T	13: 120,496,765 (GRCm39)	R35S	possibly damaging	Het
Aopep	T	C	13: 63,215,906 (GRCm39)	S393P	probably benign	Het
Aspn	A	G	13: 49,710,901 (GRCm39)	D182G	probably benign	Het
Astn1	A	T	1: 158,407,864 (GRCm39)	D607V	probably damaging	Het
Btnl1	A	G	17: 34,598,725 (GRCm39)	I114V	probably null	Het
Ccdc159	A	G	9: 21,840,762 (GRCm39)	S110G	probably benign	Het
Cdh18	A	C	15: 22,714,128 (GRCm39)		probably benign	Het
Cdh22	A	G	2: 164,954,526 (GRCm39)	I665T	probably damaging	Het
Cenpk	T	A	13: 104,385,901 (GRCm39)	H265Q	possibly damaging	Het
Chd6	A	G	2: 160,811,412 (GRCm39)	L1397P	probably damaging	Het
Chia1	A	C	3: 106,036,256 (GRCm39)	N279H	probably benign	Het
Cyp8b1	T	C	9: 121,744,651 (GRCm39)	E227G	probably damaging	Het
Dmxl2	A	T	9: 54,311,404 (GRCm39)	N1772K	possibly damaging	Het
Dnah2	A	G	11: 69,354,487 (GRCm39)	S2244P	probably damaging	Het
Fshr	T	C	17: 89,293,148 (GRCm39)	Y510C	probably damaging	Het
Gm5087	T	C	14: 13,158,798 (GRCm38)		noncoding transcript	Het
Gm7135	A	C	1: 97,387,351 (GRCm39)		noncoding transcript	Het
Hnrnpll	A	T	17: 80,358,291 (GRCm39)	Y153*	probably null	Het
Htt	T	A	5: 34,987,129 (GRCm39)	V1116E	probably damaging	Het
Ikzf5	A	T	7: 130,995,482 (GRCm39)		probably null	Het
Kcnb1	A	G	2: 167,030,153 (GRCm39)	S131P	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	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
Kif1a	A	T	1: 92,970,381 (GRCm39)	D952E	probably benign	Het
Klf4	A	G	4: 55,530,370 (GRCm39)	V247A	probably benign	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Lamc1	A	G	1: 153,118,442 (GRCm39)	S910P	probably benign	Het
Lin9	T	A	1: 180,516,845 (GRCm39)	N512K	probably damaging	Het
Mroh2a	A	T	1: 88,182,687 (GRCm39)	N1205I	possibly damaging	Het
Mrps30	A	G	13: 118,523,250 (GRCm39)	V174A	probably benign	Het
Myo1g	T	C	11: 6,462,240 (GRCm39)	E574G	probably damaging	Het
Nphp3	G	A	9: 103,913,358 (GRCm39)	G997R	possibly damaging	Het
Obscn	A	G	11: 58,958,084 (GRCm39)	C3748R	probably damaging	Het
Or1j17	A	G	2: 36,578,083 (GRCm39)	D23G	probably benign	Het
Or5p69	T	C	7: 107,966,895 (GRCm39)	L66P	probably damaging	Het
Or8g28	A	T	9: 39,169,614 (GRCm39)	M118K	probably damaging	Het
Or9s18	T	A	13: 65,300,674 (GRCm39)	V212D	possibly damaging	Het
Orc5	G	T	5: 22,753,003 (GRCm39)	F10L	probably benign	Het
Ptch1	T	C	13: 63,670,978 (GRCm39)	T851A	probably benign	Het
Ranbp6	A	T	19: 29,788,263 (GRCm39)	Y696*	probably null	Het
Rbp3	A	G	14: 33,678,056 (GRCm39)	Q668R	probably benign	Het
Rfwd3	T	C	8: 112,002,990 (GRCm39)	T611A	probably benign	Het
Rhcg	T	A	7: 79,251,352 (GRCm39)	D219V	probably damaging	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Slc25a26	G	T	6: 94,484,633 (GRCm39)	V58F	probably damaging	Het
Smarca5	T	A	8: 81,437,192 (GRCm39)	K721N	probably damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Speer2	A	T	16: 69,655,642 (GRCm39)	Y61*	probably null	Het
Spef2	T	C	15: 9,647,524 (GRCm39)	Y961C	probably damaging	Het
Sptb	C	A	12: 76,634,100 (GRCm39)		probably null	Het
Svep1	T	G	4: 58,072,698 (GRCm39)	N2204H	probably damaging	Het
Tex56	G	A	13: 35,116,448 (GRCm39)	G66S	probably damaging	Het
Tmem86a	C	A	7: 46,702,613 (GRCm39)	P13T	probably damaging	Het
Tmt1a	A	T	15: 100,210,939 (GRCm39)	Q170L	probably damaging	Het
Tox2	G	A	2: 163,156,336 (GRCm39)	S211N	possibly damaging	Het
Trpc6	A	T	9: 8,677,963 (GRCm39)	E762D	probably benign	Het
Tshb	C	T	3: 102,685,461 (GRCm39)		probably null	Het
Ttc3	T	A	16: 94,189,131 (GRCm39)	L163*	probably null	Het
Twsg1	G	T	17: 66,236,546 (GRCm39)	D161E	probably benign	Het
Uchl4	A	C	9: 64,143,080 (GRCm39)	D187A	probably damaging	Het
Vmn2r104	A	T	17: 20,268,443 (GRCm39)	W9R	probably benign	Het
Yju2	T	A	17: 56,271,598 (GRCm39)	L173Q	probably damaging	Het
Zfp14	G	A	7: 29,738,020 (GRCm39)	Q322*	probably null	Het
Znhit3	G	A	11: 84,802,316 (GRCm39)	P145S	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
R4628: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'- TGTCTGTTTAGGCCTCTAACAG -3'
(R):5'- CCAGGTGTATCTCCCTTATGGC -3'

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

Posted On

2015-09-25