Incidental Mutation 'R3712:Clptm1l'
ID 259682
Institutional Source Beutler Lab
Gene Symbol Clptm1l
Ensembl Gene ENSMUSG00000021610
Gene Name CLPTM1-like
Synonyms C130052I12Rik
MMRRC Submission 040705-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3712 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 73604006-73620605 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 73616038 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 426 (Y426N)
Ref Sequence ENSEMBL: ENSMUSP00000022102 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022102]
AlphaFold Q8BXA5
Predicted Effect probably benign
Transcript: ENSMUST00000022102
AA Change: Y426N

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000022102
Gene: ENSMUSG00000021610
AA Change: Y426N

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
Meta Mutation Damage Score 0.6879 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (59/59)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310079G19Rik C A 16: 88,627,523 (GRCm38) V27F unknown Het
Akr1c20 T C 13: 4,510,223 (GRCm38) E152G probably damaging Het
Alx4 G A 2: 93,642,789 (GRCm38) G44D possibly damaging Het
Arhgap31 T A 16: 38,602,533 (GRCm38) E1057V possibly damaging Het
Arhgef26 A T 3: 62,423,629 (GRCm38) D588V probably damaging Het
Bag2 T A 1: 33,746,916 (GRCm38) E108D probably benign Het
Ccdc162 C T 10: 41,587,379 (GRCm38) V183I probably benign Het
Ccdc58 T C 16: 36,081,405 (GRCm38) probably null Het
Ccdc83 A G 7: 90,236,355 (GRCm38) probably benign Het
Ccnyl1 G A 1: 64,714,668 (GRCm38) E137K probably damaging Het
Celsr2 T C 3: 108,400,839 (GRCm38) T1849A probably benign Het
Cep192 C A 18: 67,820,329 (GRCm38) D472E probably benign Het
Cep57l1 A G 10: 41,743,114 (GRCm38) Y86H probably damaging Het
Cep95 G T 11: 106,811,286 (GRCm38) E370* probably null Het
Cldn10 A G 14: 118,855,110 (GRCm38) T41A probably damaging Het
Eps15 T C 4: 109,309,177 (GRCm38) V89A probably damaging Het
Fam53b A G 7: 132,759,925 (GRCm38) S125P probably damaging Het
Fam69b T C 2: 26,632,638 (GRCm38) L33S possibly damaging Het
Fbxo44 A T 4: 148,156,004 (GRCm38) W256R probably benign Het
Gnl2 T C 4: 125,046,274 (GRCm38) V313A probably damaging Het
Hyal4 A G 6: 24,756,514 (GRCm38) R244G probably damaging Het
Irf6 G T 1: 193,162,623 (GRCm38) W134L probably benign Het
Kcnu1 A G 8: 25,881,420 (GRCm38) T286A probably damaging Het
Lpcat2 T C 8: 92,918,170 (GRCm38) V529A possibly damaging Het
Lrfn2 A G 17: 49,071,160 (GRCm38) E423G possibly damaging Het
Lrp8 G T 4: 107,848,302 (GRCm38) R209L probably benign Het
Mgll T C 6: 88,764,588 (GRCm38) probably benign Het
Mta3 A G 17: 83,762,988 (GRCm38) I193V probably damaging Het
Nedd4l G A 18: 65,209,719 (GRCm38) V909I possibly damaging Het
Olfr121 T A 17: 37,752,380 (GRCm38) C175* probably null Het
Olfr411 A T 11: 74,347,197 (GRCm38) I129N probably damaging Het
Olfr490 A T 7: 108,286,456 (GRCm38) Y223* probably null Het
Olfr776 A T 10: 129,261,224 (GRCm38) K88* probably null Het
Orc1 T C 4: 108,604,021 (GRCm38) V526A probably damaging Het
Pard3b T C 1: 62,343,978 (GRCm38) S744P probably damaging Het
Pcnx3 G A 19: 5,683,339 (GRCm38) Q155* probably null Het
Pcnx3 C G 19: 5,683,340 (GRCm38) L1F probably null Het
Pdcd11 T A 19: 47,127,245 (GRCm38) probably benign Het
Pi4k2a G A 19: 42,090,692 (GRCm38) R64Q probably damaging Het
Pigt A G 2: 164,501,645 (GRCm38) D347G probably benign Het
Rbm27 T C 18: 42,292,112 (GRCm38) probably benign Het
Rpl7a-ps10 A G 9: 97,179,873 (GRCm38) E232G probably damaging Het
Rprd2 A G 3: 95,764,560 (GRCm38) L1177P probably damaging Het
Rrn3 T A 16: 13,784,095 (GRCm38) L71* probably null Het
Sbspon A G 1: 15,892,445 (GRCm38) C70R probably damaging Het
Smtn A T 11: 3,532,865 (GRCm38) probably null Het
Son A G 16: 91,656,726 (GRCm38) D787G probably damaging Het
Sphkap C T 1: 83,277,112 (GRCm38) S972N probably benign Het
Spopl C T 2: 23,537,380 (GRCm38) R221Q probably damaging Het
Srp14 A C 2: 118,478,959 (GRCm38) L58V probably null Het
Sun2 A G 15: 79,727,913 (GRCm38) S522P possibly damaging Het
Tectb C G 19: 55,180,999 (GRCm38) probably benign Het
Trdn T C 10: 33,157,166 (GRCm38) I129T probably benign Het
Trpv3 A G 11: 73,278,954 (GRCm38) K117R probably benign Het
Ubqlnl A T 7: 104,149,138 (GRCm38) I384N probably benign Het
Ush2a G A 1: 188,810,292 (GRCm38) G3352S probably benign Het
Vmn1r59 A T 7: 5,454,638 (GRCm38) I41K probably damaging Het
Vmn2r125 T A 4: 156,350,124 (GRCm38) Y68* probably null Het
Zpld1 A T 16: 55,226,436 (GRCm38) L390* probably null 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
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
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'- TCCATGGCCATTAGACACAG -3'
(R):5'- ACAGCAGATTCTGGCCTGTATC -3'

Sequencing Primer
(F):5'- CCGAAATGTTATTGGGGTCTCACC -3'
(R):5'- ATCTGAGAAGAGTCCTGAGTTCC -3'
Posted On 2015-01-23