Mutagenetix > Incidental Mutation

Incidental Mutation 'R8024:Tmtc2'

617596

Institutional Source

Beutler Lab

Gene Symbol

Tmtc2

Ensembl Gene

ENSMUSG00000036019

Gene Name

transmembrane and tetratricopeptide repeat containing 2

Synonyms

8430438D04Rik, D330034A10Rik

MMRRC Submission

067463-MU

Accession Numbers

Essential gene?

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

Stock #

R8024 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105023524-105410312 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105025987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 827 (E827G)

Ref Sequence

ENSEMBL: ENSMUSP00000061919 (fasta)

Gene Model

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

AlphaFold

Q56A06

Predicted Effect

probably benign
Transcript: ENSMUST00000061506
AA Change: E827G

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000061919
Gene: ENSMUSG00000036019
AA Change: E827G

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

100% (74/74)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,760,713 (GRCm39)	N1257Y	probably benign	Het
2310057J18Rik	A	T	10: 28,858,591 (GRCm39)	Y133*	probably null	Het
2310057J18Rik	A	C	10: 28,862,213 (GRCm39)	S26A	possibly damaging	Het
9930012K11Rik	G	T	14: 70,394,116 (GRCm39)	P220T	probably damaging	Het
Adam1b	A	C	5: 121,638,986 (GRCm39)	S686R	probably benign	Het
Adam8	T	C	7: 139,567,489 (GRCm39)	D418G	probably damaging	Het
Adcy8	A	G	15: 64,792,095 (GRCm39)	L287P	probably damaging	Het
Adhfe1	T	A	1: 9,634,080 (GRCm39)	M373K	probably benign	Het
Alpk2	T	C	18: 65,438,106 (GRCm39)	S1096G	probably benign	Het
Ankmy1	A	G	1: 92,812,716 (GRCm39)	V531A	probably benign	Het
Ano3	C	T	2: 110,498,128 (GRCm39)	E738K	probably damaging	Het
Ano4	T	A	10: 88,807,194 (GRCm39)	I796F	probably damaging	Het
Apeh	T	C	9: 107,969,790 (GRCm39)	E190G	probably benign	Het
Atpsckmt	T	C	15: 31,608,317 (GRCm39)	Y123H	probably damaging	Het
Cadm3	A	G	1: 173,165,622 (GRCm39)	L346P	probably damaging	Het
Ccdc9b	A	G	2: 118,591,005 (GRCm39)		probably null	Het
Clec2e	G	A	6: 129,071,388 (GRCm39)	H150Y	possibly damaging	Het
Cnga4	A	T	7: 105,056,042 (GRCm39)	N318Y	probably damaging	Het
Cnr2	T	A	4: 135,644,196 (GRCm39)	F91L	probably damaging	Het
Diaph3	T	A	14: 86,893,835 (GRCm39)	E1147V	probably damaging	Het
Elmo2	T	C	2: 165,133,775 (GRCm39)	T738A	unknown	Het
Exoc4	T	A	6: 33,324,866 (GRCm39)	W387R	probably damaging	Het
Focad	T	C	4: 88,315,237 (GRCm39)	V1379A	unknown	Het
Frmd4a	T	C	2: 4,608,513 (GRCm39)	S794P	probably damaging	Het
Ftl1-ps1	A	G	13: 74,555,170 (GRCm39)	T150A	probably benign	Het
Gm43517	A	T	12: 49,436,409 (GRCm39)		probably benign	Het
Gm5773	C	T	3: 93,680,475 (GRCm39)	A49V	probably benign	Het
Helz	T	A	11: 107,577,247 (GRCm39)	L1867Q	unknown	Het
Il22ra1	A	G	4: 135,461,589 (GRCm39)	H118R	probably benign	Het
Inf2	C	T	12: 112,575,336 (GRCm39)	P856S	unknown	Het
Ints5	T	A	19: 8,873,504 (GRCm39)	L488I	probably damaging	Het
Iqca1l	A	G	5: 24,755,634 (GRCm39)	M296T	possibly damaging	Het
Kifc1	G	A	17: 34,102,177 (GRCm39)	R479C	probably damaging	Het
Lrba	T	A	3: 86,202,708 (GRCm39)	C289*	probably null	Het
Mael	A	G	1: 166,054,196 (GRCm39)	L196S	probably damaging	Het
Med23	T	A	10: 24,755,581 (GRCm39)	S229R	possibly damaging	Het
Mroh9	T	C	1: 162,866,802 (GRCm39)	N645D	probably benign	Het
Myom3	G	A	4: 135,529,059 (GRCm39)	V1132I	probably benign	Het
Naalad2	T	G	9: 18,308,769 (GRCm39)		probably benign	Het
Ndufa13	A	T	8: 70,347,187 (GRCm39)	L71H	probably damaging	Het
Nepro	A	T	16: 44,551,778 (GRCm39)	H212L	probably benign	Het
Nmd3	T	A	3: 69,637,298 (GRCm39)		probably benign	Het
Nox4	T	A	7: 86,954,118 (GRCm39)	L141Q	probably damaging	Het
Or4a81	T	C	2: 89,619,390 (GRCm39)	E102G	probably benign	Het
Or5p53	T	C	7: 107,533,645 (GRCm39)	V306A	probably benign	Het
Or5p58	T	A	7: 107,694,496 (GRCm39)	T94S	probably benign	Het
Or6c215	T	G	10: 129,637,812 (GRCm39)	E194A	probably damaging	Het
Or8s2	T	A	15: 98,276,878 (GRCm39)	M38L	probably benign	Het
Pfpl	A	G	19: 12,407,570 (GRCm39)	D607G	possibly damaging	Het
Pkd1l2	A	T	8: 117,802,921 (GRCm39)	F233L	possibly damaging	Het
Prl6a1	A	G	13: 27,502,678 (GRCm39)		probably benign	Het
Ptprz1	A	T	6: 23,042,750 (GRCm39)	E2058V	probably damaging	Het
Rag1	A	T	2: 101,472,852 (GRCm39)	N763K	probably damaging	Het
Rhbg	A	C	3: 88,155,760 (GRCm39)	D63E	probably damaging	Het
Rrm1	T	A	7: 102,106,472 (GRCm39)	F330L	probably benign	Het
Scaf8	A	T	17: 3,209,568 (GRCm39)	Q97L	unknown	Het
Sdr9c7	G	A	10: 127,734,751 (GRCm39)	V80I	probably benign	Het
Slc18a1	A	G	8: 69,527,799 (GRCm39)	V4A	probably benign	Het
Slco3a1	T	A	7: 74,204,218 (GRCm39)	I41F	probably benign	Het
Slirp	T	C	12: 87,494,370 (GRCm39)	V45A	probably damaging	Het
Spata31	A	T	13: 65,070,618 (GRCm39)	Q922L	probably benign	Het
Spg11	A	G	2: 121,927,802 (GRCm39)	S661P	possibly damaging	Het
Stab2	G	T	10: 86,681,916 (GRCm39)	T2495K	probably benign	Het
Supt16	A	G	14: 52,408,332 (GRCm39)	I871T	probably damaging	Het
Sval2	A	G	6: 41,837,298 (GRCm39)	Q9R	probably damaging	Het
Syngap1	A	T	17: 27,160,426 (GRCm39)	M1L	probably benign	Het
Tfpi	A	T	2: 84,284,266 (GRCm39)	M62K	possibly damaging	Het
Tm4sf1	A	T	3: 57,195,186 (GRCm39)	Y200*	probably null	Het
Tmc1	A	T	19: 20,878,181 (GRCm39)	W105R	probably damaging	Het
Tollip	T	C	7: 141,446,563 (GRCm39)	I33V	probably benign	Het
Unc80	T	A	1: 66,645,803 (GRCm39)	V1493D	possibly damaging	Het
Vmn2r6	G	A	3: 64,467,245 (GRCm39)	R85W	probably benign	Het
Vwa5a	C	A	9: 38,647,316 (GRCm39)	S565*	probably null	Het
Xbp1	T	A	11: 5,471,910 (GRCm39)	V12D	probably benign	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
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
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'- AAAGTGGATTCTCCCAGCAG -3'
(R):5'- ACGTTTGTCCTCCATGAAGG -3'

Sequencing Primer
(F):5'- AGTGGCAGTAACCATAGTGACCTTTG -3'
(R):5'- AGGAGCTCTTGAAATGGCCTC -3'

Posted On

2020-01-23