Mutagenetix > Incidental Mutation

Incidental Mutation 'R1529:Tmtc2'

166477

Institutional Source

Beutler Lab

Gene Symbol

Tmtc2

Ensembl Gene

ENSMUSG00000036019

Gene Name

transmembrane and tetratricopeptide repeat containing 2

Synonyms

8430438D04Rik, D330034A10Rik

Accession Numbers

Essential gene?

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

Stock #

R1529 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105023524-105410312 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 105139519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 669 (S669L)

Ref Sequence

ENSEMBL: ENSMUSP00000061919 (fasta)

Gene Model

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

AlphaFold

Q56A06

Predicted Effect

probably damaging
Transcript: ENSMUST00000061506
AA Change: S669L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000061919
Gene: ENSMUSG00000036019
AA Change: S669L

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	T	C	3: 59,768,533 (GRCm39)	I21T	probably benign	Het
Adam11	T	C	11: 102,665,939 (GRCm39)		probably null	Het
Amd1	A	T	10: 40,166,501 (GRCm39)	M194K	probably benign	Het
Ap1b1	T	G	11: 4,989,547 (GRCm39)	F793C	probably damaging	Het
Arfgef3	G	A	10: 18,488,970 (GRCm39)	R1292*	probably null	Het
Arhgef5	C	A	6: 43,256,449 (GRCm39)	H1186N	probably damaging	Het
Atad1	A	G	19: 32,684,321 (GRCm39)	F26L	probably benign	Het
Atg2b	C	T	12: 105,627,392 (GRCm39)	V532I	probably benign	Het
Atp2b4	A	G	1: 133,645,726 (GRCm39)	F943L	probably damaging	Het
Atp7b	G	A	8: 22,518,740 (GRCm39)	L21F	possibly damaging	Het
Ccdc9b	T	A	2: 118,592,241 (GRCm39)		probably null	Het
Cenpf	A	T	1: 189,392,235 (GRCm39)	D532E	probably benign	Het
Cimip3	G	A	17: 47,724,815 (GRCm39)	S102L	probably benign	Het
Ckmt2	A	T	13: 92,009,320 (GRCm39)	D202E	probably benign	Het
Crim1	A	C	17: 78,675,383 (GRCm39)	K864T	probably benign	Het
Ctnnd2	A	G	15: 30,887,267 (GRCm39)	R765G	possibly damaging	Het
Ddx10	T	A	9: 53,028,499 (GRCm39)	R802*	probably null	Het
Dnah7b	T	A	1: 46,216,441 (GRCm39)	F1152L	probably damaging	Het
Dsg1c	T	C	18: 20,415,080 (GRCm39)	L659P	probably damaging	Het
Dzank1	A	G	2: 144,324,108 (GRCm39)	F577L	probably benign	Het
Eci3	T	C	13: 35,140,903 (GRCm39)	D93G	probably benign	Het
Ecpas	T	C	4: 58,832,701 (GRCm39)		probably null	Het
Ep400	C	A	5: 110,887,311 (GRCm39)	V591L	probably benign	Het
Fgd3	T	C	13: 49,420,170 (GRCm39)	N569S	probably benign	Het
Ghsr	T	A	3: 27,426,631 (GRCm39)	V229E	probably damaging	Het
Gna15	T	A	10: 81,345,176 (GRCm39)	I230F	probably damaging	Het
Gnl2	A	G	4: 124,940,099 (GRCm39)	S324G	probably damaging	Het
Grid1	T	C	14: 35,031,250 (GRCm39)	V281A	probably benign	Het
Hebp2	G	A	10: 18,421,509 (GRCm39)	A12V	possibly damaging	Het
Hfm1	T	C	5: 107,000,989 (GRCm39)	D1254G	probably benign	Het
Hif3a	A	C	7: 16,776,564 (GRCm39)	S459A	probably benign	Het
Hnrnpl	T	A	7: 28,513,348 (GRCm39)	N149K	possibly damaging	Het
Hoxc10	A	T	15: 102,875,635 (GRCm39)	S115C	probably damaging	Het
Hycc2	A	T	1: 58,578,766 (GRCm39)	D261E	probably benign	Het
Ifnab	T	C	4: 88,609,292 (GRCm39)	D58G	possibly damaging	Het
Itfg1	T	C	8: 86,537,243 (GRCm39)	T195A	probably benign	Het
Itpr3	T	A	17: 27,324,459 (GRCm39)		probably null	Het
Iws1	A	G	18: 32,213,334 (GRCm39)	D254G	probably benign	Het
Kl	C	A	5: 150,912,406 (GRCm39)	D718E	probably benign	Het
Lrit2	A	G	14: 36,790,784 (GRCm39)	I154M	probably benign	Het
Lrp2	T	C	2: 69,353,526 (GRCm39)	D578G	probably damaging	Het
Lss	T	G	10: 76,372,123 (GRCm39)	Y159*	probably null	Het
Mab21l1	C	A	3: 55,691,254 (GRCm39)	Y280*	probably null	Het
Maf	A	T	8: 116,419,909 (GRCm39)	S378T	probably benign	Het
Mast2	C	T	4: 116,287,716 (GRCm39)	V59I	probably benign	Het
Nisch	C	T	14: 30,902,895 (GRCm39)		probably benign	Het
Nova2	A	T	7: 18,691,479 (GRCm39)	N139Y	probably damaging	Het
Nup210	C	A	6: 91,013,358 (GRCm39)	D434Y	probably damaging	Het
Nvl	C	T	1: 180,936,724 (GRCm39)		probably null	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or51g2	A	G	7: 102,623,086 (GRCm39)	Y38H	probably damaging	Het
Or56b1	A	G	7: 104,285,696 (GRCm39)	T272A	probably benign	Het
Or8k18	A	T	2: 86,085,585 (GRCm39)	Y151N	probably damaging	Het
Or8k3b	A	G	2: 86,520,677 (GRCm39)	V214A	possibly damaging	Het
Pbx3	T	C	2: 34,094,871 (GRCm39)	Y255C	probably damaging	Het
Pcyt1a	G	A	16: 32,270,611 (GRCm39)	E27K	possibly damaging	Het
Pex6	A	T	17: 47,024,990 (GRCm39)	T348S	probably benign	Het
Phf21b	A	G	15: 84,681,597 (GRCm39)	I251T	probably damaging	Het
Pkd2l2	T	C	18: 34,563,755 (GRCm39)	I490T	probably damaging	Het
Pla2g12a	T	A	3: 129,672,534 (GRCm39)	L56Q	probably damaging	Het
Plk4	A	G	3: 40,760,971 (GRCm39)	T434A	probably benign	Het
Ptpn13	A	G	5: 103,711,998 (GRCm39)	N1632S	probably benign	Het
Rfpl4	C	T	7: 5,113,711 (GRCm39)	V151M	probably damaging	Het
Rpain	G	C	11: 70,865,741 (GRCm39)	E169Q	probably damaging	Het
Samd8	T	A	14: 21,825,227 (GRCm39)	V124D	possibly damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Slc12a1	C	T	2: 125,032,215 (GRCm39)	T622I	probably damaging	Het
Slc17a3	T	A	13: 24,029,428 (GRCm39)	V67D	probably damaging	Het
Slc41a3	G	T	6: 90,621,198 (GRCm39)	V387L	probably damaging	Het
Slitrk1	T	A	14: 109,150,709 (GRCm39)	M1L	probably benign	Het
Stat4	T	C	1: 52,050,952 (GRCm39)	W4R	probably damaging	Het
Tas2r126	A	G	6: 42,411,502 (GRCm39)	T12A	probably benign	Het
Tbc1d24	A	G	17: 24,404,953 (GRCm39)	C64R	probably damaging	Het
Tcaf2	T	C	6: 42,606,440 (GRCm39)	S505G	probably benign	Het
Tiam2	T	C	17: 3,566,978 (GRCm39)	V1506A	probably benign	Het
Tmem9b	A	C	7: 109,336,156 (GRCm39)	S163A	probably benign	Het
Tnpo3	A	T	6: 29,560,220 (GRCm39)	I641K	possibly damaging	Het
Ttn	C	T	2: 76,565,711 (GRCm39)	A28214T	probably damaging	Het
Utp11	G	A	4: 124,577,032 (GRCm39)	A113V	probably benign	Het
Utp20	G	A	10: 88,588,868 (GRCm39)	R2434C	probably damaging	Het
Vmn1r60	A	T	7: 5,547,902 (GRCm39)	I66N	probably benign	Het
Zeb2	T	C	2: 44,887,206 (GRCm39)	E572G	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
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
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'- TCTCACATCTTAGAGGCCAGACCC -3'
(R):5'- CTGCAAACTGCTTAAATCATGCCAGG -3'

Sequencing Primer
(F):5'- GGCCTCTAACAGGATTGTTATCATTC -3'
(R):5'- ATGGCTTATGATTCTCTCCTGATG -3'

Posted On

2014-04-13