Mutagenetix > Incidental Mutation

Incidental Mutation 'R9224:Clptm1l'

699716

Institutional Source

Beutler Lab

Gene Symbol

Clptm1l

Ensembl Gene

ENSMUSG00000021610

Gene Name

CLPTM1-like

Synonyms

C130052I12Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9224 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73604006-73620605 bp(+) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

A to T at 73604225 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022102 (fasta)

Gene Model

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

AlphaFold

Q8BXA5

Predicted Effect

probably benign
Transcript: ENSMUST00000022102

SMART Domains

Protein: ENSMUSP00000022102
Gene: ENSMUSG00000021610

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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 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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	T	19: 3,717,100 (GRCm38)	S229L	possibly damaging	Het
Actc1	TGA	T	2: 114,049,229 (GRCm38)		probably null	Het
Actl9	G	A	17: 33,434,030 (GRCm38)	A355T	probably benign	Het
Adamts8	A	G	9: 30,942,892 (GRCm38)	Q19R	probably benign	Het
Akr1c14	A	T	13: 4,080,695 (GRCm38)	Y216F	possibly damaging	Het
Alms1	T	C	6: 85,621,788 (GRCm38)	C1199R	possibly damaging	Het
Apc2	T	C	10: 80,314,277 (GRCm38)	S1722P	probably damaging	Het
Arid1a	T	C	4: 133,681,856 (GRCm38)	E1395G	unknown	Het
Atp6v0e2	T	C	6: 48,539,256 (GRCm38)	V46A	possibly damaging	Het
Bcar3	A	G	3: 122,525,442 (GRCm38)	R743G	probably damaging	Het
Bhmt2	A	G	13: 93,669,346 (GRCm38)	V56A	probably damaging	Het
Bsn	C	A	9: 108,105,487 (GRCm38)	R917L		Het
Cabyr	T	G	18: 12,754,221 (GRCm38)	V303G	possibly damaging	Het
Carmil1	A	T	13: 24,108,529 (GRCm38)	I429N	probably damaging	Het
Ccdc27	T	C	4: 154,037,717 (GRCm38)	N235D	unknown	Het
Ccdc61	T	C	7: 18,903,821 (GRCm38)	M37V	probably benign	Het
Cd40	A	T	2: 165,056,796 (GRCm38)	I48F	unknown	Het
Cdk13	A	T	13: 17,766,486 (GRCm38)	S664R	probably damaging	Het
Cel	TTA	TTATA	2: 28,559,429 (GRCm38)		probably null	Het
Cfap46	T	A	7: 139,678,500 (GRCm38)	R286*	probably null	Het
Ckap2	A	C	8: 22,169,938 (GRCm38)	I509S	possibly damaging	Het
Col11a1	T	G	3: 114,208,280 (GRCm38)	M1591R	unknown	Het
Col6a5	C	A	9: 105,937,395 (GRCm38)	A473S	unknown	Het
Cxcr2	T	A	1: 74,158,597 (GRCm38)	D83E	probably damaging	Het
Cyp2c39	G	A	19: 39,538,888 (GRCm38)	C226Y	probably benign	Het
Ddr1	A	C	17: 35,689,717 (GRCm38)	F352C	probably damaging	Het
Defb22	T	A	2: 152,485,801 (GRCm38)	T155S	unknown	Het
Dennd4c	G	T	4: 86,819,933 (GRCm38)	E935*	probably null	Het
Dst	A	C	1: 34,291,798 (GRCm38)	E4889D	probably damaging	Het
Emilin1	T	A	5: 30,917,479 (GRCm38)	C355S	probably damaging	Het
Enpp3	C	T	10: 24,774,818 (GRCm38)	V807I	probably benign	Het
Fcnb	T	A	2: 28,079,148 (GRCm38)	D179V	probably damaging	Het
Ficd	T	A	5: 113,737,135 (GRCm38)	D88E	probably benign	Het
Fndc3b	T	C	3: 27,470,301 (GRCm38)	K437E	possibly damaging	Het
Fyb2	T	A	4: 104,995,908 (GRCm38)	W566R	probably benign	Het
Gm11639	A	G	11: 104,770,975 (GRCm38)	Q1314R	probably benign	Het
Gm14403	A	G	2: 177,508,543 (GRCm38)	Q94R	probably benign	Het
Gm14548	T	C	7: 3,897,235 (GRCm38)	T123A	probably benign	Het
Gm32687	T	A	10: 81,879,032 (GRCm38)	I86N	probably benign	Het
Gpam	T	G	19: 55,087,475 (GRCm38)	D235A	probably damaging	Het
Gstt4	T	C	10: 75,815,212 (GRCm38)	E192G	probably damaging	Het
H2-Q6	T	G	17: 35,425,333 (GRCm38)	V97G	probably benign	Het
Hcn1	G	A	13: 117,925,718 (GRCm38)	G507S	unknown	Het
Hydin	T	C	8: 110,532,884 (GRCm38)	I2496T	probably benign	Het
Jund	A	G	8: 70,699,215 (GRCm38)	D53G	probably damaging	Het
Kat6b	T	A	14: 21,669,963 (GRCm38)	M1461K	probably benign	Het
Lnx1	T	G	5: 74,606,149 (GRCm38)	K435Q	probably benign	Het
Lpcat1	C	A	13: 73,510,042 (GRCm38)	L316M	probably damaging	Het
Lrrtm3	ATTTT	ATTTTT	10: 64,089,256 (GRCm38)		probably null	Het
Ly6c1	T	A	15: 75,044,616 (GRCm38)	T126S	probably benign	Het
Macf1	A	G	4: 123,432,897 (GRCm38)	S4938P	probably damaging	Het
Map2k2	T	C	10: 81,118,174 (GRCm38)	V158A	possibly damaging	Het
Map3k4	A	G	17: 12,238,086 (GRCm38)	V1323A	probably damaging	Het
Map4k5	A	T	12: 69,892,693 (GRCm38)	V23E	possibly damaging	Het
Med30	T	G	15: 52,719,443 (GRCm38)	L92R	probably damaging	Het
Mroh8	C	T	2: 157,221,149 (GRCm38)	G851S	possibly damaging	Het
Msmb	T	A	14: 32,158,103 (GRCm38)	C83*	probably null	Het
Mtif2	A	T	11: 29,544,364 (GRCm38)	R655S	probably benign	Het
Myo10	C	T	15: 25,807,995 (GRCm38)	S1901L	probably benign	Het
Myom2	A	T	8: 15,128,804 (GRCm38)	I1279F	possibly damaging	Het
Nat9	T	C	11: 115,184,615 (GRCm38)	I67V	probably damaging	Het
Ncam1	A	G	9: 49,508,695 (GRCm38)	S774P	probably damaging	Het
Ndufaf6	T	C	4: 11,062,089 (GRCm38)	T181A	probably damaging	Het
Nlrp4f	T	A	13: 65,185,015 (GRCm38)	K110*	probably null	Het
Nlrp9b	T	C	7: 20,019,292 (GRCm38)	S41P	probably benign	Het
Nlrp9b	A	G	7: 20,023,551 (GRCm38)	T238A	probably benign	Het
Noxo1	A	T	17: 24,700,331 (GRCm38)	E342D	probably benign	Het
Nt5dc2	T	C	14: 31,135,708 (GRCm38)	M55T	probably benign	Het
Olfr1040	T	A	2: 86,145,876 (GRCm38)	N286I	probably damaging	Het
Olfr342	A	T	2: 36,527,826 (GRCm38)	Q138L	probably benign	Het
Olfr453	T	C	6: 42,744,970 (GRCm38)	F311S	probably benign	Het
Olfr466	C	T	13: 65,152,389 (GRCm38)	T55I	probably damaging	Het
Olfr700	T	C	7: 106,806,282 (GRCm38)	Y60C	probably damaging	Het
Olfr782	T	A	10: 129,350,581 (GRCm38)	M6K	probably benign	Het
Olfr800	C	A	10: 129,660,138 (GRCm38)	L111M	probably damaging	Het
Olfr92	T	C	17: 37,111,875 (GRCm38)	T36A	possibly damaging	Het
P4ha2	C	T	11: 54,119,137 (GRCm38)	P240L	possibly damaging	Het
Pcdha11	T	A	18: 37,006,020 (GRCm38)	L234Q	probably damaging	Het
Pgm3	C	T	9: 86,556,362 (GRCm38)	A457T	probably benign	Het
Pkp4	T	C	2: 59,314,394 (GRCm38)	V533A	probably benign	Het
Plac8l1	T	C	18: 42,192,637 (GRCm38)	T68A	possibly damaging	Het
Pou2f3	A	T	9: 43,139,399 (GRCm38)	I222N	probably damaging	Het
Ppp1r14d	T	C	2: 119,229,741 (GRCm38)	D20G	probably benign	Het
Ppp1r37	C	A	7: 19,531,804 (GRCm38)	G679V	probably damaging	Het
Ppp6r2	T	A	15: 89,262,396 (GRCm38)	I199N	probably damaging	Het
Prune2	A	G	19: 17,120,029 (GRCm38)	T966A	probably damaging	Het
Ptdss2	T	C	7: 141,154,885 (GRCm38)	V375A	probably benign	Het
Rara	TGCCCCGC	TGCCCCGCCCCGC	11: 98,966,410 (GRCm38)		probably null	Het
Rin2	T	A	2: 145,878,902 (GRCm38)	C718*	probably null	Het
Rptor	C	T	11: 119,894,287 (GRCm38)	T1170I	probably benign	Het
Samd5	T	C	10: 9,674,515 (GRCm38)	Y150C	probably damaging	Het
Setd1b	T	C	5: 123,158,710 (GRCm38)	S1245P	unknown	Het
Sipa1l2	T	C	8: 125,491,977 (GRCm38)	E207G	probably damaging	Het
Slc29a1	C	A	17: 45,586,227 (GRCm38)	V378L	probably damaging	Het
Slc2a12	T	G	10: 22,665,362 (GRCm38)	I372S	possibly damaging	Het
Slc7a10	T	A	7: 35,195,214 (GRCm38)	Y99*	probably null	Het
Smco3	A	G	6: 136,831,519 (GRCm38)	V119A	probably damaging	Het
Sptlc3	C	T	2: 139,494,234 (GRCm38)	T10I	probably benign	Het
Sri	T	A	5: 8,063,323 (GRCm38)	W105R	probably damaging	Het
Stk35	T	C	2: 129,810,571 (GRCm38)	Y331H	probably damaging	Het
Tipin	T	C	9: 64,288,148 (GRCm38)	I12T	probably benign	Het
Tlr5	A	G	1: 182,975,128 (GRCm38)	T666A	probably benign	Het
Tmprss11g	C	A	5: 86,492,144 (GRCm38)	V222L	probably benign	Het
Tnfrsf11b	T	A	15: 54,252,160 (GRCm38)	Y347F	possibly damaging	Het
Traf6	A	G	2: 101,697,167 (GRCm38)	T421A	probably benign	Het
Trrap	T	A	5: 144,771,239 (GRCm38)	D30E	possibly damaging	Het
Ube2k	T	A	5: 65,594,504 (GRCm38)	Y162N	probably damaging	Het
Uck2	A	T	1: 167,237,602 (GRCm38)	V49E	probably damaging	Het
Vcam1	A	T	3: 116,110,943 (GRCm38)	Y718*	probably null	Het
Zan	T	C	5: 137,474,007 (GRCm38)	N159S	probably damaging	Het
Zfp438	A	G	18: 5,210,788 (GRCm38)	L750P	probably damaging	Het
Zfp54	A	T	17: 21,433,775 (GRCm38)	Y177F	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
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
R9528:Clptm1l	UTSW	13	73,612,431 (GRCm38)	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- ATTTCCAAGAACCGGGTGCC -3'
(R):5'- ACCAGAACATTGGACAGTGAC -3'

Sequencing Primer
(F):5'- AAGAGGCTGACGTCACGC -3'
(R):5'- GACGCTCACCTGCAGTTTG -3'

Posted On

2022-02-07