Incidental Mutation 'R3003:Clptm1l'
ID 257372
Institutional Source Beutler Lab
Gene Symbol Clptm1l
Ensembl Gene ENSMUSG00000021610
Gene Name CLPTM1-like
Synonyms C130052I12Rik
MMRRC Submission 040532-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3003 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 73752125-73768724 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 73765875 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 471 (T471I)
Ref Sequence ENSEMBL: ENSMUSP00000022102 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022102]
AlphaFold Q8BXA5
Predicted Effect possibly damaging
Transcript: ENSMUST00000022102
AA Change: T471I

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000022102
Gene: ENSMUSG00000021610
AA Change: T471I

DomainStartEndE-ValueType
Pfam:CLPTM1 10 423 3.2e-134 PFAM
transmembrane domain 428 450 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221130
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221417
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222343
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T C 16: 14,254,393 (GRCm39) V568A probably damaging Het
Acd C T 8: 106,426,913 (GRCm39) probably null Het
Acly T C 11: 100,395,053 (GRCm39) K469E possibly damaging Het
Adh6b G T 3: 138,063,532 (GRCm39) L248F possibly damaging Het
Atg9b G T 5: 24,596,217 (GRCm39) D192E probably damaging Het
Ccdc180 A G 4: 45,899,988 (GRCm39) D182G probably benign Het
Cep112 A G 11: 108,331,329 (GRCm39) E178G probably damaging Het
Csmd1 A G 8: 16,246,184 (GRCm39) F1072L probably damaging Het
Eprs1 T C 1: 185,156,588 (GRCm39) probably null Het
Il27ra G T 8: 84,758,660 (GRCm39) S499* probably null Het
Klk1b11 T C 7: 43,426,419 (GRCm39) I51T probably damaging Het
Lct T C 1: 128,231,963 (GRCm39) M629V probably damaging Het
Mprip A G 11: 59,618,381 (GRCm39) T91A possibly damaging Het
Pfpl T C 19: 12,407,690 (GRCm39) I647T possibly damaging Het
Plxnc1 A T 10: 94,629,080 (GRCm39) F1565I probably damaging Het
Prr5 G T 15: 84,656,031 (GRCm39) C344F probably damaging Het
Rnf17 T C 14: 56,738,004 (GRCm39) W1262R probably damaging Het
Rptor G A 11: 119,763,197 (GRCm39) R927Q possibly damaging Het
Slitrk5 A G 14: 111,917,014 (GRCm39) K213E probably damaging Het
Smarcd1 C A 15: 99,610,065 (GRCm39) P432Q probably damaging Het
Stat4 A G 1: 52,142,145 (GRCm39) D664G probably damaging Het
Suz12 T A 11: 79,910,587 (GRCm39) W313R probably damaging Het
Sycp2 T C 2: 177,999,916 (GRCm39) Y1020C probably benign Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tmem81 A G 1: 132,435,752 (GRCm39) N186S probably benign Het
Tut4 G A 4: 108,370,125 (GRCm39) E714K probably damaging Het
Vmn2r98 A G 17: 19,286,125 (GRCm39) M208V 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
R2068:Clptm1l UTSW 13 73,755,842 (GRCm39) nonsense probably null
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'- AGGCCAGCAGAGGTCTTTTG -3'
(R):5'- TGAGAACCTTTATCCTGTGTGG -3'

Sequencing Primer
(F):5'- CCCCAGCAGAATGTATGTTTG -3'
(R):5'- AGAACCTTTATCCTGTGTGGTTTGTG -3'
Posted On 2015-01-11