Mutagenetix > Incidental Mutation

Incidental Mutation 'R2068:Clptm1l'

226872

Institutional Source

Beutler Lab

Gene Symbol

Clptm1l

Ensembl Gene

ENSMUSG00000021610

Gene Name

CLPTM1-like

Synonyms

C130052I12Rik

MMRRC Submission

040073-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2068 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73604006-73620605 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 73607723 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 153 (Q153*)

Ref Sequence

ENSEMBL: ENSMUSP00000022102 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022102]

AlphaFold

Q8BXA5

Predicted Effect

probably null
Transcript: ENSMUST00000022102
AA Change: Q153*

SMART Domains

Protein: ENSMUSP00000022102
Gene: ENSMUSG00000021610
AA Change: Q153*

Domain	Start	End	E-Value	Type
Pfam:CLPTM1	10	423	3.2e-134	PFAM
transmembrane domain	428	450	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221417

Meta Mutation Damage Score

0.9704

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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 a membrane protein whose overexpression in cisplatin-sensitive cells causes apoptosis. Polymorphisms in this gene have been reported to increase susceptibility to several cancers, including lung, pancreatic, and breast cancers. [provided by RefSeq, Nov 2015]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	T	C	11: 76,000,251 (GRCm38)	S64P	possibly damaging	Het
4933436I01Rik	T	A	X: 67,920,702 (GRCm38)	I184L	probably benign	Het
Abcb5	A	T	12: 118,940,568 (GRCm38)	C162*	probably null	Het
Akr1c19	A	T	13: 4,238,392 (GRCm38)		probably null	Het
Akt3	A	G	1: 177,102,985 (GRCm38)	S136P	possibly damaging	Het
Alox12e	G	A	11: 70,316,002 (GRCm38)	R620W	probably damaging	Het
Ascc2	A	T	11: 4,681,496 (GRCm38)	M646L	probably benign	Het
Bsn	T	G	9: 108,110,684 (GRCm38)		probably benign	Het
Bsn	T	A	9: 108,126,550 (GRCm38)	M219L	possibly damaging	Het
Btnl9	T	C	11: 49,169,563 (GRCm38)	T453A	probably damaging	Het
C6	G	T	15: 4,791,070 (GRCm38)	C521F	probably damaging	Het
Ccnt1	A	T	15: 98,551,942 (GRCm38)	H156Q	probably benign	Het
Cdh7	A	T	1: 110,137,936 (GRCm38)	R647*	probably null	Het
Cmya5	T	A	13: 93,090,524 (GRCm38)	K2685N	possibly damaging	Het
Cnksr2	A	C	X: 157,945,306 (GRCm38)	S224R	possibly damaging	Het
Cntn1	T	C	15: 92,318,062 (GRCm38)	V992A	possibly damaging	Het
Dapk1	G	A	13: 60,751,208 (GRCm38)	D831N	probably damaging	Het
Dnaaf3	T	C	7: 4,523,799 (GRCm38)	I426M	possibly damaging	Het
Dnah6	A	G	6: 73,021,182 (GRCm38)	Y4034H	probably benign	Het
Dtx2	C	T	5: 136,030,577 (GRCm38)	S493F	probably damaging	Het
Ehd1	T	C	19: 6,298,078 (GRCm38)	L362P	probably benign	Het
Endov	T	C	11: 119,499,582 (GRCm38)	F12S	probably damaging	Het
Eps8	A	T	6: 137,522,174 (GRCm38)	W239R	probably benign	Het
Fance	T	C	17: 28,320,825 (GRCm38)	F83S	possibly damaging	Het
Fn1	A	G	1: 71,600,439 (GRCm38)	V1731A	probably damaging	Het
Gak	G	T	5: 108,570,225 (GRCm38)	T1244K	probably benign	Het
Gas8	T	A	8: 123,526,537 (GRCm38)	I208N	probably damaging	Het
Gm9830	A	T	9: 44,464,282 (GRCm38)		noncoding transcript	Het
Gm9837	T	A	11: 53,470,265 (GRCm38)		probably benign	Het
Gtf2f2	A	G	14: 75,917,696 (GRCm38)	S142P	possibly damaging	Het
Hdac3	C	A	18: 37,943,516 (GRCm38)	G257V	probably damaging	Het
Heg1	A	G	16: 33,727,590 (GRCm38)	T916A	probably benign	Het
Herc2	G	T	7: 56,132,497 (GRCm38)	G1311C	probably damaging	Het
Htt	C	T	5: 34,825,982 (GRCm38)	T975I	probably benign	Het
Il2rg	A	G	X: 101,267,810 (GRCm38)	L57P	possibly damaging	Het
Itm2b	T	C	14: 73,363,135 (GRCm38)	K242E	probably damaging	Het
Itpr3	G	A	17: 27,098,076 (GRCm38)	M768I	probably benign	Het
Klrg2	G	A	6: 38,636,993 (GRCm38)	T25I	probably benign	Het
Lcn5	G	A	2: 25,658,041 (GRCm38)	V21M	probably damaging	Het
Lonp2	A	G	8: 86,665,775 (GRCm38)	T490A	probably damaging	Het
Lrrn3	A	T	12: 41,452,996 (GRCm38)	S441T	probably damaging	Het
Mpdz	G	A	4: 81,335,830 (GRCm38)	R1W	probably null	Het
Mpp4	G	A	1: 59,143,782 (GRCm38)	P322L	possibly damaging	Het
Mpzl2	G	A	9: 45,043,871 (GRCm38)		probably null	Het
Naf1	A	G	8: 66,887,780 (GRCm38)	D414G	probably damaging	Het
Notch3	A	G	17: 32,135,508 (GRCm38)	C1748R	probably benign	Het
Nup133	C	A	8: 123,914,575 (GRCm38)	D869Y	probably damaging	Het
Oasl2	A	C	5: 114,911,237 (GRCm38)	D466A	probably benign	Het
Olfr324	A	G	11: 58,597,570 (GRCm38)	N58S	probably damaging	Het
Olfr487	T	C	7: 108,212,340 (GRCm38)	Y63C	probably damaging	Het
Olfr705	T	A	7: 106,714,166 (GRCm38)	R172W	probably benign	Het
Olfr709-ps1	T	G	7: 106,926,955 (GRCm38)	Y168S	probably damaging	Het
Olfr970	T	C	9: 39,820,550 (GRCm38)	F304L	probably benign	Het
Opa3	T	C	7: 19,244,814 (GRCm38)	I68T	possibly damaging	Het
Pcdh8	A	T	14: 79,768,211 (GRCm38)	S912R	probably damaging	Het
Pdzrn3	T	C	6: 101,150,699 (GRCm38)	E1002G	probably damaging	Het
Pik3c2a	A	T	7: 116,372,891 (GRCm38)	L768*	probably null	Het
Plxna4	A	G	6: 32,517,616 (GRCm38)	S22P	possibly damaging	Het
Plxnb3	T	A	X: 73,771,751 (GRCm38)	Y1845*	probably null	Het
Pramef6	T	C	4: 143,896,912 (GRCm38)	M231V	probably damaging	Het
Prl7a2	T	A	13: 27,660,887 (GRCm38)	Y172F	probably damaging	Het
Pum1	A	G	4: 130,774,434 (GRCm38)	T845A	probably benign	Het
Rad21l	T	C	2: 151,668,007 (GRCm38)	H58R	probably damaging	Het
Rgma	A	C	7: 73,409,631 (GRCm38)	D161A	probably damaging	Het
Scai	T	C	2: 39,123,013 (GRCm38)	Y135C	probably damaging	Het
Scn2a	T	A	2: 65,752,073 (GRCm38)	H1588Q	probably benign	Het
Sdha	A	T	13: 74,323,968 (GRCm38)		probably null	Het
Slc12a3	A	G	8: 94,345,828 (GRCm38)	D658G	probably damaging	Het
Slc5a3	A	G	16: 92,077,240 (GRCm38)	S62G	probably damaging	Het
Spata13	GTTAGGCT	GT	14: 60,760,871 (GRCm38)		probably benign	Het
Sulf1	A	G	1: 12,840,403 (GRCm38)	I649V	probably damaging	Het
Thbs1	C	T	2: 118,123,537 (GRCm38)	Q1090*	probably null	Het
Tjp2	C	A	19: 24,122,323 (GRCm38)	R400L	probably benign	Het
Tle4	A	T	19: 14,449,749 (GRCm38)	Y769*	probably null	Het
Trmt5	A	T	12: 73,284,670 (GRCm38)		probably null	Het
Troap	T	C	15: 99,082,463 (GRCm38)	L508P	probably benign	Het
Ubac2	T	A	14: 121,908,279 (GRCm38)	Y116*	probably null	Het
Ugt2b36	T	C	5: 87,092,241 (GRCm38)	E95G	probably benign	Het
Ush1c	T	C	7: 46,229,481 (GRCm38)	Y74C	probably damaging	Het
Usp36	T	C	11: 118,275,018 (GRCm38)	T160A	possibly damaging	Het
Usp54	G	T	14: 20,577,205 (GRCm38)	P462T	probably damaging	Het
Vmn1r55	A	G	7: 5,147,049 (GRCm38)	V125A	possibly damaging	Het
Vps11	A	G	9: 44,358,316 (GRCm38)	S213P	probably damaging	Het
Zfp668	C	T	7: 127,866,665 (GRCm38)	G449D	probably benign	Het

Other mutations in Clptm1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01672:Clptm1l	APN	13	73,607,873 (GRCm38)	splice site	probably null
IGL01963:Clptm1l	APN	13	73,617,569 (GRCm38)	splice site	probably benign
IGL02169:Clptm1l	APN	13	73,611,663 (GRCm38)	missense	probably damaging	0.96
IGL02554:Clptm1l	APN	13	73,607,760 (GRCm38)	missense	probably benign	0.07
IGL02596:Clptm1l	APN	13	73,613,666 (GRCm38)	missense	probably benign	0.02
IGL02720:Clptm1l	APN	13	73,614,602 (GRCm38)	splice site	probably benign
IGL03100:Clptm1l	APN	13	73,612,390 (GRCm38)	splice site	probably benign
P0023:Clptm1l	UTSW	13	73,604,952 (GRCm38)	missense	possibly damaging	0.67
R0308:Clptm1l	UTSW	13	73,611,667 (GRCm38)	missense	possibly damaging	0.67
R0725:Clptm1l	UTSW	13	73,606,343 (GRCm38)	missense	probably benign
R1572:Clptm1l	UTSW	13	73,607,747 (GRCm38)	missense	probably benign
R1589:Clptm1l	UTSW	13	73,614,673 (GRCm38)	critical splice donor site	probably null
R2062:Clptm1l	UTSW	13	73,607,723 (GRCm38)	nonsense	probably null
R2064:Clptm1l	UTSW	13	73,607,723 (GRCm38)	nonsense	probably null
R2065:Clptm1l	UTSW	13	73,607,723 (GRCm38)	nonsense	probably null
R2067:Clptm1l	UTSW	13	73,607,723 (GRCm38)	nonsense	probably null
R3003:Clptm1l	UTSW	13	73,617,756 (GRCm38)	missense	possibly damaging	0.51
R3712:Clptm1l	UTSW	13	73,616,038 (GRCm38)	missense	probably benign	0.21
R3808:Clptm1l	UTSW	13	73,612,454 (GRCm38)	missense	probably benign	0.13
R3966:Clptm1l	UTSW	13	73,615,972 (GRCm38)	missense	probably damaging	1.00
R4615:Clptm1l	UTSW	13	73,607,738 (GRCm38)	nonsense	probably null
R4801:Clptm1l	UTSW	13	73,607,862 (GRCm38)	missense	possibly damaging	0.81
R4802:Clptm1l	UTSW	13	73,607,862 (GRCm38)	missense	possibly damaging	0.81
R4957:Clptm1l	UTSW	13	73,612,428 (GRCm38)	missense	probably damaging	1.00
R4957:Clptm1l	UTSW	13	73,611,196 (GRCm38)	missense	possibly damaging	0.52
R5864:Clptm1l	UTSW	13	73,606,284 (GRCm38)	missense	probably damaging	0.99
R6502:Clptm1l	UTSW	13	73,617,765 (GRCm38)	critical splice donor site	probably null
R6701:Clptm1l	UTSW	13	73,608,906 (GRCm38)	missense	probably benign	0.00
R6720:Clptm1l	UTSW	13	73,618,516 (GRCm38)	missense	probably damaging	1.00
R7782:Clptm1l	UTSW	13	73,604,320 (GRCm38)	missense	probably damaging	1.00
R8292:Clptm1l	UTSW	13	73,617,735 (GRCm38)	missense	probably damaging	0.96
R8329:Clptm1l	UTSW	13	73,612,428 (GRCm38)	missense	probably damaging	1.00
R9224:Clptm1l	UTSW	13	73,604,225 (GRCm38)	start gained	probably benign
R9528:Clptm1l	UTSW	13	73,612,431 (GRCm38)	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- CCAAGACTGCACCGTATTCACTT -3'
(R):5'- ACATCTTCATGTACCGATGCACA -3'

Sequencing Primer
(F):5'- TGACTCTTGGTAGTCTTTCC -3'
(R):5'- GCAGGGAGGAACCATCAAAG -3'

Posted On

2014-09-17