Mutagenetix > Incidental Mutation

Incidental Mutation 'R8292:Clptm1l'

638760

Institutional Source

Beutler Lab

Gene Symbol

Clptm1l

Ensembl Gene

ENSMUSG00000021610

Gene Name

CLPTM1-like

Synonyms

C130052I12Rik

MMRRC Submission

067782-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8292 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73604006-73620605 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73617735 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 464 (H464L)

Ref Sequence

ENSEMBL: ENSMUSP00000022102 (fasta)

Gene Model

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

AlphaFold

Q8BXA5

Predicted Effect

probably damaging
Transcript: ENSMUST00000022102
AA Change: H464L

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000022102
Gene: ENSMUSG00000021610
AA Change: H464L

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: 99.9%
10x: 99.7%
20x: 99.1%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,200,494 (GRCm38)		probably null	Het
Akirin2	T	C	4: 34,566,007 (GRCm38)		probably null	Het
Akr1c14	A	G	13: 4,080,995 (GRCm38)	D229G	possibly damaging	Het
Arfgef1	T	C	1: 10,156,969 (GRCm38)	I1382V	probably benign	Het
Bcas3	C	A	11: 85,457,903 (GRCm38)	A207D	probably damaging	Het
Bcl2l10	T	C	9: 75,347,878 (GRCm38)		probably benign	Het
Cdc42	T	C	4: 137,336,073 (GRCm38)	T3A	probably benign	Het
Celsr1	C	A	15: 85,907,618 (GRCm38)	W2594L	possibly damaging	Het
Chrna6	A	T	8: 27,406,726 (GRCm38)	H374Q	probably benign	Het
Clcnka	G	A	4: 141,397,961 (GRCm38)	R30*	probably null	Het
Col6a4	A	T	9: 106,076,877 (GRCm38)	M421K	probably benign	Het
Crybg2	T	C	4: 134,075,531 (GRCm38)	S873P	probably damaging	Het
Dixdc1	A	G	9: 50,710,689 (GRCm38)	V114A	probably benign	Het
Etv6	T	C	6: 134,248,546 (GRCm38)	C247R	probably benign	Het
Fam92a	T	G	4: 12,153,963 (GRCm38)	T330P	possibly damaging	Het
Farp2	T	C	1: 93,528,628 (GRCm38)	L11S	probably damaging	Het
Gbp2	G	A	3: 142,623,823 (GRCm38)	V44M	probably damaging	Het
Get4	A	G	5: 139,262,931 (GRCm38)	D99G	probably null	Het
Glcci1	G	A	6: 8,558,549 (GRCm38)	R212H	probably damaging	Het
Gm14295	T	A	2: 176,809,558 (GRCm38)	F280L	probably damaging	Het
Gm5407	T	A	16: 49,297,187 (GRCm38)	N70Y	noncoding transcript	Het
Hace1	C	G	10: 45,711,461 (GRCm38)	Y885*	probably null	Het
Hectd4	G	A	5: 121,317,225 (GRCm38)	R644Q	possibly damaging	Het
Impg2	A	T	16: 56,260,626 (GRCm38)	E931V	probably damaging	Het
Kif5c	A	T	2: 49,735,485 (GRCm38)	Y589F	probably benign	Het
Krr1	T	A	10: 111,977,116 (GRCm38)	V132E	possibly damaging	Het
Luzp1	T	G	4: 136,542,453 (GRCm38)	D662E	probably benign	Het
Mc4r	A	T	18: 66,860,011 (GRCm38)	Y10*	probably null	Het
Mfng	T	C	15: 78,773,170 (GRCm38)	I35V	probably benign	Het
Mprip	T	A	11: 59,759,514 (GRCm38)	I1348K	probably benign	Het
Mrgprb3	G	T	7: 48,643,507 (GRCm38)	Q99K	probably benign	Het
Mrgprb4	A	T	7: 48,198,806 (GRCm38)	S125T	probably damaging	Het
Mrgprg	A	T	7: 143,764,919 (GRCm38)	M152K	probably benign	Het
Muc5ac	A	C	7: 141,809,263 (GRCm38)	I2104L	unknown	Het
Myom2	A	G	8: 15,132,888 (GRCm38)	I1442V	probably benign	Het
Nell1	T	C	7: 50,258,247 (GRCm38)	C385R	probably damaging	Het
Nid2	T	G	14: 19,768,278 (GRCm38)	V280G	probably damaging	Het
Npr2	T	A	4: 43,643,086 (GRCm38)	M490K	possibly damaging	Het
Prr12	A	G	7: 45,034,688 (GRCm38)	F1643L	probably damaging	Het
Psg16	G	A	7: 17,093,776 (GRCm38)	G128D	probably damaging	Het
Racgap1	A	T	15: 99,622,246 (GRCm38)	L595*	probably null	Het
Rbbp8	T	C	18: 11,705,712 (GRCm38)	V150A	probably benign	Het
Rbbp9	T	C	2: 144,548,097 (GRCm38)	T49A	probably benign	Het
Rbm20	C	A	19: 53,851,499 (GRCm38)	T973K	possibly damaging	Het
Robo1	A	T	16: 72,972,532 (GRCm38)	I582F	possibly damaging	Het
Rps6ka5	A	T	12: 100,678,532 (GRCm38)	V53D	possibly damaging	Het
Slc35f6	G	T	5: 30,656,031 (GRCm38)	V156L	probably benign	Het
Smpd3	T	C	8: 106,264,790 (GRCm38)	H377R	probably benign	Het
Son	G	A	16: 91,656,657 (GRCm38)	S764N	possibly damaging	Het
Srgn	A	T	10: 62,507,668 (GRCm38)	V16D	possibly damaging	Het
Tex14	G	A	11: 87,497,838 (GRCm38)	R297Q	probably damaging	Het
Tiam2	T	C	17: 3,506,867 (GRCm38)	V1194A	probably benign	Het
Tlr6	A	C	5: 64,953,791 (GRCm38)	L591R	probably damaging	Het
Tmem143	A	G	7: 45,909,540 (GRCm38)	K302R	probably damaging	Het
Ttc28	A	G	5: 111,223,257 (GRCm38)	Y555C	probably damaging	Het
Usp32	T	A	11: 85,077,401 (GRCm38)	K145N	probably damaging	Het
Zbtb40	T	C	4: 136,999,567 (GRCm38)	Y486C	probably damaging	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
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'- AGGCCAGCAGAGGTCTTTTG -3'
(R):5'- GTGGCTTGTCAGAGTCTAAAATG -3'

Sequencing Primer
(F):5'- CCCCAGCAGAATGTATGTTTG -3'
(R):5'- GGCTTGTCAGAGTCTAAAATGATGTC -3'

Posted On

2020-07-28