Mutagenetix > Incidental Mutation

Incidental Mutation 'R0308:Clptm1l'

24995

Institutional Source

Beutler Lab

Gene Symbol

Clptm1l

Ensembl Gene

ENSMUSG00000021610

Gene Name

CLPTM1-like

Synonyms

C130052I12Rik

MMRRC Submission

038518-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0308 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73752125-73768724 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73759786 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 282 (D282G)

Ref Sequence

ENSEMBL: ENSMUSP00000022102 (fasta)

Gene Model

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

AlphaFold

Q8BXA5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022102
AA Change: D282G

PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000022102
Gene: ENSMUSG00000021610
AA Change: D282G

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

0.8275

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 95.1%
20x: 89.5%

Validation Efficiency

100% (82/82)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	T	4: 39,450,989 (GRCm39)	D65V	probably damaging	Het
4933407L21Rik	A	T	1: 85,859,007 (GRCm39)		probably benign	Het
Abcc12	C	T	8: 87,284,381 (GRCm39)		probably benign	Het
Adamts12	A	G	15: 11,311,646 (GRCm39)	E1301G	probably damaging	Het
Adh4	A	T	3: 138,129,863 (GRCm39)	N230Y	probably damaging	Het
Anapc15-ps	T	A	10: 95,508,954 (GRCm39)	M109L	probably benign	Het
Angpt2	T	C	8: 18,742,141 (GRCm39)	I472V	possibly damaging	Het
Arhgef26	C	A	3: 62,247,820 (GRCm39)	D301E	probably benign	Het
Armc10	G	A	5: 21,852,295 (GRCm39)		probably benign	Het
Atm	T	C	9: 53,365,773 (GRCm39)		probably null	Het
Atp5f1b	T	C	10: 127,921,908 (GRCm39)	V265A	probably benign	Het
Atp8b1	G	T	18: 64,678,315 (GRCm39)	C860*	probably null	Het
Atrnl1	T	G	19: 57,741,720 (GRCm39)	S1160A	probably benign	Het
Bmal1	A	T	7: 112,890,743 (GRCm39)	I179F	probably damaging	Het
Cep55	A	G	19: 38,048,659 (GRCm39)	E105G	possibly damaging	Het
Cfap54	C	A	10: 92,721,226 (GRCm39)	D2502Y	unknown	Het
Cilp2	A	G	8: 70,335,643 (GRCm39)	S452P	probably benign	Het
Csrp1	C	A	1: 135,673,024 (GRCm39)	T47N	probably damaging	Het
Cyp2c40	T	A	19: 39,766,432 (GRCm39)	I388F	probably damaging	Het
Dars1	C	T	1: 128,291,996 (GRCm39)	R494H	probably damaging	Het
Dna2	T	C	10: 62,792,753 (GRCm39)	V256A	probably damaging	Het
Dock7	T	C	4: 98,873,051 (GRCm39)	T1132A	probably benign	Het
Dpcd	T	G	19: 45,565,445 (GRCm39)	F140V	probably damaging	Het
Elk3	A	T	10: 93,101,067 (GRCm39)	M228K	probably benign	Het
Erich6	A	G	3: 58,543,525 (GRCm39)	F182L	probably damaging	Het
Fhad1	A	G	4: 141,712,904 (GRCm39)		probably benign	Het
Fryl	A	T	5: 73,198,947 (GRCm39)		probably benign	Het
Fzd9	A	T	5: 135,278,260 (GRCm39)	C542S	probably damaging	Het
Gba1	A	G	3: 89,115,671 (GRCm39)	T460A	probably benign	Het
Gli2	C	T	1: 118,769,792 (GRCm39)	A587T	probably benign	Het
Gm11011	C	T	2: 169,424,614 (GRCm39)		probably benign	Het
Gmppb	A	G	9: 107,927,033 (GRCm39)	E68G	probably benign	Het
Gpld1	A	G	13: 25,146,818 (GRCm39)	N260S	possibly damaging	Het
Hipk3	G	A	2: 104,263,552 (GRCm39)	S900L	probably damaging	Het
Idi2l	T	G	13: 8,990,877 (GRCm39)		probably benign	Het
Ints6l	A	T	X: 55,526,715 (GRCm39)	M215L	possibly damaging	Het
Irx6	T	A	8: 93,403,659 (GRCm39)	L128Q	probably damaging	Het
Itga10	T	C	3: 96,558,780 (GRCm39)	S373P	probably damaging	Het
Jak1	T	C	4: 101,011,732 (GRCm39)		probably null	Het
Jak2	C	T	19: 29,289,157 (GRCm39)	T1103I	probably benign	Het
Katnal1	A	T	5: 148,815,734 (GRCm39)	V401D	possibly damaging	Het
Krbox5	A	G	13: 67,991,232 (GRCm39)		probably benign	Het
Lrp2	T	A	2: 69,313,326 (GRCm39)		probably benign	Het
Map3k13	A	G	16: 21,710,738 (GRCm39)	H7R	probably benign	Het
Mrgprx3-ps	A	G	7: 46,959,766 (GRCm39)	V75A	probably benign	Het
Nol6	C	T	4: 41,123,584 (GRCm39)	A55T	probably benign	Het
Opa1	G	A	16: 29,440,349 (GRCm39)	R818Q	probably damaging	Het
Opn4	T	C	14: 34,319,081 (GRCm39)	Y168C	possibly damaging	Het
Or8b35	A	G	9: 37,904,141 (GRCm39)	I118V	probably benign	Het
Phf21a	T	C	2: 92,161,122 (GRCm39)	V330A	possibly damaging	Het
Phykpl	A	G	11: 51,484,423 (GRCm39)		probably benign	Het
Plcb1	T	G	2: 134,655,534 (GRCm39)	V38G	probably benign	Het
Plxna4	T	A	6: 32,214,703 (GRCm39)	T593S	probably benign	Het
Poll	A	T	19: 45,544,404 (GRCm39)	I339N	probably damaging	Het
Rev3l	A	G	10: 39,700,890 (GRCm39)	I1796V	probably benign	Het
Rnf103	G	A	6: 71,486,686 (GRCm39)	R439H	probably damaging	Het
Rrn3	G	A	16: 13,617,746 (GRCm39)		probably benign	Het
Sec14l4	G	A	11: 3,991,726 (GRCm39)		probably benign	Het
Sec23a	A	C	12: 59,053,985 (GRCm39)	Y4*	probably null	Het
Senp6	T	C	9: 80,040,265 (GRCm39)		probably null	Het
Serpinb6b	A	T	13: 33,162,220 (GRCm39)	N221Y	probably benign	Het
Slc6a2	A	G	8: 93,687,988 (GRCm39)	E38G	possibly damaging	Het
Smap1	A	T	1: 23,888,423 (GRCm39)	L196I	probably damaging	Het
Sorbs2	C	T	8: 46,248,167 (GRCm39)	Q473*	probably null	Het
Sphkap	C	A	1: 83,254,690 (GRCm39)	V1020F	probably damaging	Het
Srfbp1	T	C	18: 52,621,614 (GRCm39)	V225A	probably benign	Het
Srprb	G	A	9: 103,079,204 (GRCm39)	P728S	possibly damaging	Het
Tarm1	T	C	7: 3,545,187 (GRCm39)		probably benign	Het
Tcp1	T	A	17: 13,139,306 (GRCm39)	I162N	probably benign	Het
Tmem237	C	A	1: 59,146,676 (GRCm39)	A292S	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tnpo1	A	G	13: 98,983,011 (GRCm39)	F884L	probably damaging	Het
Trim7	A	G	11: 48,740,328 (GRCm39)	T142A	probably damaging	Het
Ttn	T	A	2: 76,616,024 (GRCm39)	I14894F	probably damaging	Het
Tubgcp6	T	C	15: 89,006,639 (GRCm39)	R128G	possibly damaging	Het
Ube2d2b	A	G	5: 107,978,774 (GRCm39)	T142A	possibly damaging	Het
Unc13c	G	T	9: 73,388,400 (GRCm39)	L2129I	probably benign	Het
Ushbp1	T	C	8: 71,843,697 (GRCm39)	D247G	probably damaging	Het
Usp43	G	A	11: 67,770,966 (GRCm39)	A556V	probably damaging	Het
Zfp438	T	A	18: 5,213,638 (GRCm39)	H440L	probably benign	Het
Zfp518b	C	T	5: 38,830,113 (GRCm39)	E631K	possibly damaging	Het

Other mutations in Clptm1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01672:Clptm1l	APN	13	73,755,992 (GRCm39)	splice site	probably null
IGL01963:Clptm1l	APN	13	73,765,688 (GRCm39)	splice site	probably benign
IGL02169:Clptm1l	APN	13	73,759,782 (GRCm39)	missense	probably damaging	0.96
IGL02554:Clptm1l	APN	13	73,755,879 (GRCm39)	missense	probably benign	0.07
IGL02596:Clptm1l	APN	13	73,761,785 (GRCm39)	missense	probably benign	0.02
IGL02720:Clptm1l	APN	13	73,762,721 (GRCm39)	splice site	probably benign
IGL03100:Clptm1l	APN	13	73,760,509 (GRCm39)	splice site	probably benign
P0023:Clptm1l	UTSW	13	73,753,071 (GRCm39)	missense	possibly damaging	0.67
R0725:Clptm1l	UTSW	13	73,754,462 (GRCm39)	missense	probably benign
R1572:Clptm1l	UTSW	13	73,755,866 (GRCm39)	missense	probably benign
R1589:Clptm1l	UTSW	13	73,762,792 (GRCm39)	critical splice donor site	probably null
R2062:Clptm1l	UTSW	13	73,755,842 (GRCm39)	nonsense	probably null
R2064:Clptm1l	UTSW	13	73,755,842 (GRCm39)	nonsense	probably null
R2065:Clptm1l	UTSW	13	73,755,842 (GRCm39)	nonsense	probably null
R2067:Clptm1l	UTSW	13	73,755,842 (GRCm39)	nonsense	probably null
R2068:Clptm1l	UTSW	13	73,755,842 (GRCm39)	nonsense	probably null
R3003:Clptm1l	UTSW	13	73,765,875 (GRCm39)	missense	possibly damaging	0.51
R3712:Clptm1l	UTSW	13	73,764,157 (GRCm39)	missense	probably benign	0.21
R3808:Clptm1l	UTSW	13	73,760,573 (GRCm39)	missense	probably benign	0.13
R3966:Clptm1l	UTSW	13	73,764,091 (GRCm39)	missense	probably damaging	1.00
R4615:Clptm1l	UTSW	13	73,755,857 (GRCm39)	nonsense	probably null
R4801:Clptm1l	UTSW	13	73,755,981 (GRCm39)	missense	possibly damaging	0.81
R4802:Clptm1l	UTSW	13	73,755,981 (GRCm39)	missense	possibly damaging	0.81
R4957:Clptm1l	UTSW	13	73,760,547 (GRCm39)	missense	probably damaging	1.00
R4957:Clptm1l	UTSW	13	73,759,315 (GRCm39)	missense	possibly damaging	0.52
R5864:Clptm1l	UTSW	13	73,754,403 (GRCm39)	missense	probably damaging	0.99
R6502:Clptm1l	UTSW	13	73,765,884 (GRCm39)	critical splice donor site	probably null
R6701:Clptm1l	UTSW	13	73,757,025 (GRCm39)	missense	probably benign	0.00
R6720:Clptm1l	UTSW	13	73,766,635 (GRCm39)	missense	probably damaging	1.00
R7782:Clptm1l	UTSW	13	73,752,439 (GRCm39)	missense	probably damaging	1.00
R8292:Clptm1l	UTSW	13	73,765,854 (GRCm39)	missense	probably damaging	0.96
R8329:Clptm1l	UTSW	13	73,760,547 (GRCm39)	missense	probably damaging	1.00
R9224:Clptm1l	UTSW	13	73,752,344 (GRCm39)	start gained	probably benign
R9528:Clptm1l	UTSW	13	73,760,550 (GRCm39)	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- ACAGACCCACACTGCTGTACTAGG -3'
(R):5'- CACACAGATAGGACCGCTCACTTTC -3'

Sequencing Primer
(F):5'- TCCCTTAAATGTGACTGTAGGAC -3'
(R):5'- TCTAGAGGTATTGGCACCTAGAC -3'

Posted On

2013-04-16