Incidental Mutation 'R2068:Clptm1l'
ID 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 13
Chromosomal Location 73752125-73768724 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 73755842 bp (GRCm39)
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*

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933436I01Rik T A X: 66,964,308 (GRCm39) I184L probably benign Het
Abcb5 A T 12: 118,904,303 (GRCm39) C162* probably null Het
Akr1c19 A T 13: 4,288,391 (GRCm39) probably null Het
Akt3 A G 1: 176,930,551 (GRCm39) S136P possibly damaging Het
Alox12e G A 11: 70,206,828 (GRCm39) R620W probably damaging Het
Ascc2 A T 11: 4,631,496 (GRCm39) M646L probably benign Het
Bsn T G 9: 107,987,883 (GRCm39) probably benign Het
Bsn T A 9: 108,003,749 (GRCm39) M219L possibly damaging Het
Btnl9 T C 11: 49,060,390 (GRCm39) T453A probably damaging Het
C6 G T 15: 4,820,552 (GRCm39) C521F probably damaging Het
Ccnt1 A T 15: 98,449,823 (GRCm39) H156Q probably benign Het
Cdh20 A T 1: 110,065,666 (GRCm39) R647* probably null Het
Cmya5 T A 13: 93,227,032 (GRCm39) K2685N possibly damaging Het
Cnksr2 A C X: 156,728,302 (GRCm39) S224R possibly damaging Het
Cntn1 T C 15: 92,215,943 (GRCm39) V992A possibly damaging Het
Dapk1 G A 13: 60,899,022 (GRCm39) D831N probably damaging Het
Dnaaf3 T C 7: 4,526,798 (GRCm39) I426M possibly damaging Het
Dnah6 A G 6: 72,998,165 (GRCm39) Y4034H probably benign Het
Dtx2 C T 5: 136,059,431 (GRCm39) S493F probably damaging Het
Ehd1 T C 19: 6,348,108 (GRCm39) L362P probably benign Het
Endov T C 11: 119,390,408 (GRCm39) F12S probably damaging Het
Eps8 A T 6: 137,499,172 (GRCm39) W239R probably benign Het
Fance T C 17: 28,539,799 (GRCm39) F83S possibly damaging Het
Fn1 A G 1: 71,639,598 (GRCm39) V1731A probably damaging Het
Gak G T 5: 108,718,091 (GRCm39) T1244K probably benign Het
Gas8 T A 8: 124,253,276 (GRCm39) I208N probably damaging Het
Gm9830 A T 9: 44,375,579 (GRCm39) noncoding transcript Het
Gm9837 T A 11: 53,361,092 (GRCm39) probably benign Het
Gtf2f2 A G 14: 76,155,136 (GRCm39) S142P possibly damaging Het
Hdac3 C A 18: 38,076,569 (GRCm39) G257V probably damaging Het
Heg1 A G 16: 33,547,960 (GRCm39) T916A probably benign Het
Herc2 G T 7: 55,782,245 (GRCm39) G1311C probably damaging Het
Htt C T 5: 34,983,326 (GRCm39) T975I probably benign Het
Il2rg A G X: 100,311,416 (GRCm39) L57P possibly damaging Het
Itm2b T C 14: 73,600,575 (GRCm39) K242E probably damaging Het
Itpr3 G A 17: 27,317,050 (GRCm39) M768I probably benign Het
Klrg2 G A 6: 38,613,928 (GRCm39) T25I probably benign Het
Lcn5 G A 2: 25,548,053 (GRCm39) V21M probably damaging Het
Liat1 T C 11: 75,891,077 (GRCm39) S64P possibly damaging Het
Lonp2 A G 8: 87,392,403 (GRCm39) T490A probably damaging Het
Lrrn3 A T 12: 41,502,995 (GRCm39) S441T probably damaging Het
Mpdz G A 4: 81,254,067 (GRCm39) R1W probably null Het
Mpp4 G A 1: 59,182,941 (GRCm39) P322L possibly damaging Het
Mpzl2 G A 9: 44,955,169 (GRCm39) probably null Het
Naf1 A G 8: 67,340,432 (GRCm39) D414G probably damaging Het
Notch3 A G 17: 32,354,482 (GRCm39) C1748R probably benign Het
Nup133 C A 8: 124,641,314 (GRCm39) D869Y probably damaging Het
Oasl2 A C 5: 115,049,298 (GRCm39) D466A probably benign Het
Opa3 T C 7: 18,978,739 (GRCm39) I68T possibly damaging Het
Or2ab1 A G 11: 58,488,396 (GRCm39) N58S probably damaging Het
Or2ag1 T A 7: 106,313,373 (GRCm39) R172W probably benign Het
Or2d3c T G 7: 106,526,162 (GRCm39) Y168S probably damaging Het
Or5p63 T C 7: 107,811,547 (GRCm39) Y63C probably damaging Het
Or8g37 T C 9: 39,731,846 (GRCm39) F304L probably benign Het
Pcdh8 A T 14: 80,005,651 (GRCm39) S912R probably damaging Het
Pdzrn3 T C 6: 101,127,660 (GRCm39) E1002G probably damaging Het
Pik3c2a A T 7: 115,972,126 (GRCm39) L768* probably null Het
Plxna4 A G 6: 32,494,551 (GRCm39) S22P possibly damaging Het
Plxnb3 T A X: 72,815,357 (GRCm39) Y1845* probably null Het
Pramel11 T C 4: 143,623,482 (GRCm39) M231V probably damaging Het
Prl7a2 T A 13: 27,844,870 (GRCm39) Y172F probably damaging Het
Pum1 A G 4: 130,501,745 (GRCm39) T845A probably benign Het
Rad21l T C 2: 151,509,927 (GRCm39) H58R probably damaging Het
Rgma A C 7: 73,059,379 (GRCm39) D161A probably damaging Het
Scai T C 2: 39,013,025 (GRCm39) Y135C probably damaging Het
Scn2a T A 2: 65,582,417 (GRCm39) H1588Q probably benign Het
Sdha A T 13: 74,472,087 (GRCm39) probably null Het
Slc12a3 A G 8: 95,072,456 (GRCm39) D658G probably damaging Het
Slc5a3 A G 16: 91,874,128 (GRCm39) S62G probably damaging Het
Spata13 GTTAGGCT GT 14: 60,998,320 (GRCm39) probably benign Het
Sulf1 A G 1: 12,910,627 (GRCm39) I649V probably damaging Het
Thbs1 C T 2: 117,954,018 (GRCm39) Q1090* probably null Het
Tjp2 C A 19: 24,099,687 (GRCm39) R400L probably benign Het
Tle4 A T 19: 14,427,113 (GRCm39) Y769* probably null Het
Trmt5 A T 12: 73,331,444 (GRCm39) probably null Het
Troap T C 15: 98,980,344 (GRCm39) L508P probably benign Het
Ubac2 T A 14: 122,145,691 (GRCm39) Y116* probably null Het
Ugt2b36 T C 5: 87,240,100 (GRCm39) E95G probably benign Het
Ush1c T C 7: 45,878,905 (GRCm39) Y74C probably damaging Het
Usp36 T C 11: 118,165,844 (GRCm39) T160A possibly damaging Het
Usp54 G T 14: 20,627,273 (GRCm39) P462T probably damaging Het
Vmn1r55 A G 7: 5,150,048 (GRCm39) V125A possibly damaging Het
Vps11 A G 9: 44,269,613 (GRCm39) S213P probably damaging Het
Zfp668 C T 7: 127,465,837 (GRCm39) G449D probably benign Het
Other mutations in Clptm1l
AlleleSourceChrCoordTypePredicted EffectPPH 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
R0308:Clptm1l UTSW 13 73,759,786 (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
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'- CCAAGACTGCACCGTATTCACTT -3'
(R):5'- ACATCTTCATGTACCGATGCACA -3'

Sequencing Primer
(F):5'- TGACTCTTGGTAGTCTTTCC -3'
(R):5'- GCAGGGAGGAACCATCAAAG -3'
Posted On 2014-09-17