Incidental Mutation 'R3808:Clptm1l'
ID 275064
Institutional Source Beutler Lab
Gene Symbol Clptm1l
Ensembl Gene ENSMUSG00000021610
Gene Name CLPTM1-like
Synonyms C130052I12Rik
MMRRC Submission 040765-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3808 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 73604006-73620605 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 73612454 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 319 (M319L)
Ref Sequence ENSEMBL: ENSMUSP00000022102 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022102]
AlphaFold Q8BXA5
Predicted Effect probably benign
Transcript: ENSMUST00000022102
AA Change: M319L

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000022102
Gene: ENSMUSG00000021610
AA Change: M319L

DomainStartEndE-ValueType
Pfam:CLPTM1 10 423 3.2e-134 PFAM
transmembrane domain 428 450 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221417
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222343
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.8%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A T 12: 71,164,547 (GRCm38) E685V possibly damaging Het
2700049A03Rik G T 12: 71,164,546 (GRCm38) E685* probably null Het
Aldh3a2 G T 11: 61,258,797 (GRCm38) L248M probably damaging Het
Als2 A G 1: 59,170,450 (GRCm38) S1458P probably benign Het
Arhgap5 A G 12: 52,567,187 (GRCm38) E192G possibly damaging Het
Atg2a A G 19: 6,252,816 (GRCm38) K1019R possibly damaging Het
Atp2b1 A G 10: 99,003,148 (GRCm38) K613E possibly damaging Het
Carm1 T C 9: 21,586,962 (GRCm38) C421R probably damaging Het
Cdh17 A T 4: 11,795,671 (GRCm38) Y417F probably damaging Het
Cers1 A G 8: 70,330,010 (GRCm38) D10G possibly damaging Het
Cntnap3 A G 13: 64,781,804 (GRCm38) V527A probably damaging Het
Creb3l2 A G 6: 37,355,690 (GRCm38) S290P probably damaging Het
D3Ertd254e T G 3: 36,165,643 (GRCm38) probably null Het
Dock4 T G 12: 40,672,810 (GRCm38) V305G probably damaging Het
Dtl A C 1: 191,548,354 (GRCm38) L356R probably damaging Het
Eftud2 A T 11: 102,841,463 (GRCm38) probably null Het
Eif2b4 A G 5: 31,191,168 (GRCm38) S88P possibly damaging Het
Fat4 T G 3: 38,982,438 (GRCm38) V3413G possibly damaging Het
Fgfr2 T C 7: 130,199,848 (GRCm38) M218V probably benign Het
Grin2b A G 6: 135,923,271 (GRCm38) L204P probably damaging Het
Kcnj12 A G 11: 61,070,277 (GRCm38) N467S probably benign Het
Klhdc3 T A 17: 46,677,932 (GRCm38) N111Y possibly damaging Het
Lin9 A G 1: 180,659,111 (GRCm38) I81V probably null Het
Lrp2 T C 2: 69,501,548 (GRCm38) D1621G probably damaging Het
Lrp4 T A 2: 91,476,702 (GRCm38) D389E probably damaging Het
Med15 C T 16: 17,655,734 (GRCm38) probably benign Het
Nbea T C 3: 55,717,848 (GRCm38) N2274S probably benign Het
Nr3c2 G A 8: 76,908,714 (GRCm38) G148D probably damaging Het
Olfr1217 G T 2: 89,023,426 (GRCm38) H192Q probably benign Het
Olfr127 T C 17: 37,903,573 (GRCm38) V9A probably benign Het
Olfr982 A T 9: 40,074,309 (GRCm38) M5L probably benign Het
Paxip1 A G 5: 27,772,029 (GRCm38) probably benign Het
Pfas T C 11: 68,989,953 (GRCm38) probably benign Het
Plin3 C A 17: 56,286,275 (GRCm38) A96S probably damaging Het
Pnck T A X: 73,656,944 (GRCm38) I288F probably damaging Het
Ppp4c C T 7: 126,787,327 (GRCm38) G166D probably damaging Het
Prss43 A T 9: 110,827,772 (GRCm38) R115S probably damaging Het
Rassf2 T C 2: 131,998,260 (GRCm38) probably null Het
Rdh16f1 T A 10: 127,788,699 (GRCm38) D135E probably benign Het
Rdh16f1 G A 10: 127,788,700 (GRCm38) V136M probably damaging Het
Rgs12 A G 5: 35,032,354 (GRCm38) E702G probably damaging Het
Rnf213 A G 11: 119,479,558 (GRCm38) K4728E probably damaging Het
Ros1 T G 10: 52,120,848 (GRCm38) T1243P probably benign Het
Sall1 G A 8: 89,031,473 (GRCm38) Q668* probably null Het
Sbf2 C A 7: 110,489,280 (GRCm38) *45L probably null Het
Serpina3j A T 12: 104,319,827 (GRCm38) I414F probably benign Het
Sh2d3c T C 2: 32,746,096 (GRCm38) Y159H probably damaging Het
Slamf1 A G 1: 171,798,177 (GRCm38) D307G probably null Het
Slc22a13 T C 9: 119,196,077 (GRCm38) T178A probably benign Het
Smchd1 A T 17: 71,429,541 (GRCm38) L588H probably damaging Het
Svs1 C T 6: 48,987,994 (GRCm38) P312L possibly damaging Het
Trim12a G A 7: 104,306,994 (GRCm38) A113V probably benign Het
Vil1 T C 1: 74,427,613 (GRCm38) V654A probably benign Het
Vmn1r202 T C 13: 22,501,900 (GRCm38) T116A possibly damaging Het
Zfp607a G A 7: 27,879,401 (GRCm38) R632H probably benign Het
Other mutations in Clptm1l
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GCCTTTGAGACGTGAAGTGG -3'
(R):5'- GATGCTCACTGACTGCTGAG -3'

Sequencing Primer
(F):5'- GTTCCGTAGACAGTGAACATGTC -3'
(R):5'- TGACTGCTGAGCCTGCTGAG -3'
Posted On 2015-04-02