Mutagenetix > Incidental Mutation

Incidental Mutation 'R3808:Clptm1l'

275064

Institutional Source

Beutler Lab

Gene Symbol

Clptm1l

Ensembl Gene

ENSMUSG00000021610

Gene Name

CLPTM1-like

Synonyms

C130052I12Rik

MMRRC Submission

040765-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3808 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73604006-73620605 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 73612454 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 319 (M319L)

Ref Sequence

ENSEMBL: ENSMUSP00000022102 (fasta)

Gene Model

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

AlphaFold

Q8BXA5

Predicted Effect

probably benign
Transcript: ENSMUST00000022102
AA Change: M319L

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000022102
Gene: ENSMUSG00000021610
AA Change: M319L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222343

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.8%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,164,547 (GRCm38)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,164,546 (GRCm38)	E685*	probably null	Het
Aldh3a2	G	T	11: 61,258,797 (GRCm38)	L248M	probably damaging	Het
Als2	A	G	1: 59,170,450 (GRCm38)	S1458P	probably benign	Het
Arhgap5	A	G	12: 52,567,187 (GRCm38)	E192G	possibly damaging	Het
Atg2a	A	G	19: 6,252,816 (GRCm38)	K1019R	possibly damaging	Het
Atp2b1	A	G	10: 99,003,148 (GRCm38)	K613E	possibly damaging	Het
Carm1	T	C	9: 21,586,962 (GRCm38)	C421R	probably damaging	Het
Cdh17	A	T	4: 11,795,671 (GRCm38)	Y417F	probably damaging	Het
Cers1	A	G	8: 70,330,010 (GRCm38)	D10G	possibly damaging	Het
Cntnap3	A	G	13: 64,781,804 (GRCm38)	V527A	probably damaging	Het
Creb3l2	A	G	6: 37,355,690 (GRCm38)	S290P	probably damaging	Het
D3Ertd254e	T	G	3: 36,165,643 (GRCm38)		probably null	Het
Dock4	T	G	12: 40,672,810 (GRCm38)	V305G	probably damaging	Het
Dtl	A	C	1: 191,548,354 (GRCm38)	L356R	probably damaging	Het
Eftud2	A	T	11: 102,841,463 (GRCm38)		probably null	Het
Eif2b4	A	G	5: 31,191,168 (GRCm38)	S88P	possibly damaging	Het
Fat4	T	G	3: 38,982,438 (GRCm38)	V3413G	possibly damaging	Het
Fgfr2	T	C	7: 130,199,848 (GRCm38)	M218V	probably benign	Het
Grin2b	A	G	6: 135,923,271 (GRCm38)	L204P	probably damaging	Het
Kcnj12	A	G	11: 61,070,277 (GRCm38)	N467S	probably benign	Het
Klhdc3	T	A	17: 46,677,932 (GRCm38)	N111Y	possibly damaging	Het
Lin9	A	G	1: 180,659,111 (GRCm38)	I81V	probably null	Het
Lrp2	T	C	2: 69,501,548 (GRCm38)	D1621G	probably damaging	Het
Lrp4	T	A	2: 91,476,702 (GRCm38)	D389E	probably damaging	Het
Med15	C	T	16: 17,655,734 (GRCm38)		probably benign	Het
Nbea	T	C	3: 55,717,848 (GRCm38)	N2274S	probably benign	Het
Nr3c2	G	A	8: 76,908,714 (GRCm38)	G148D	probably damaging	Het
Olfr1217	G	T	2: 89,023,426 (GRCm38)	H192Q	probably benign	Het
Olfr127	T	C	17: 37,903,573 (GRCm38)	V9A	probably benign	Het
Olfr982	A	T	9: 40,074,309 (GRCm38)	M5L	probably benign	Het
Paxip1	A	G	5: 27,772,029 (GRCm38)		probably benign	Het
Pfas	T	C	11: 68,989,953 (GRCm38)		probably benign	Het
Plin3	C	A	17: 56,286,275 (GRCm38)	A96S	probably damaging	Het
Pnck	T	A	X: 73,656,944 (GRCm38)	I288F	probably damaging	Het
Ppp4c	C	T	7: 126,787,327 (GRCm38)	G166D	probably damaging	Het
Prss43	A	T	9: 110,827,772 (GRCm38)	R115S	probably damaging	Het
Rassf2	T	C	2: 131,998,260 (GRCm38)		probably null	Het
Rdh16f1	T	A	10: 127,788,699 (GRCm38)	D135E	probably benign	Het
Rdh16f1	G	A	10: 127,788,700 (GRCm38)	V136M	probably damaging	Het
Rgs12	A	G	5: 35,032,354 (GRCm38)	E702G	probably damaging	Het
Rnf213	A	G	11: 119,479,558 (GRCm38)	K4728E	probably damaging	Het
Ros1	T	G	10: 52,120,848 (GRCm38)	T1243P	probably benign	Het
Sall1	G	A	8: 89,031,473 (GRCm38)	Q668*	probably null	Het
Sbf2	C	A	7: 110,489,280 (GRCm38)	*45L	probably null	Het
Serpina3j	A	T	12: 104,319,827 (GRCm38)	I414F	probably benign	Het
Sh2d3c	T	C	2: 32,746,096 (GRCm38)	Y159H	probably damaging	Het
Slamf1	A	G	1: 171,798,177 (GRCm38)	D307G	probably null	Het
Slc22a13	T	C	9: 119,196,077 (GRCm38)	T178A	probably benign	Het
Smchd1	A	T	17: 71,429,541 (GRCm38)	L588H	probably damaging	Het
Svs1	C	T	6: 48,987,994 (GRCm38)	P312L	possibly damaging	Het
Trim12a	G	A	7: 104,306,994 (GRCm38)	A113V	probably benign	Het
Vil1	T	C	1: 74,427,613 (GRCm38)	V654A	probably benign	Het
Vmn1r202	T	C	13: 22,501,900 (GRCm38)	T116A	possibly damaging	Het
Zfp607a	G	A	7: 27,879,401 (GRCm38)	R632H	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
R2068: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
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'- GCCTTTGAGACGTGAAGTGG -3'
(R):5'- GATGCTCACTGACTGCTGAG -3'

Sequencing Primer
(F):5'- GTTCCGTAGACAGTGAACATGTC -3'
(R):5'- TGACTGCTGAGCCTGCTGAG -3'

Posted On

2015-04-02