Incidental Mutation 'R6720:Clptm1l'
ID 529556
Institutional Source Beutler Lab
Gene Symbol Clptm1l
Ensembl Gene ENSMUSG00000021610
Gene Name CLPTM1-like
Synonyms C130052I12Rik
MMRRC Submission 044838-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6720 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 73752125-73768724 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73766635 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 512 (W512R)
Ref Sequence ENSEMBL: ENSMUSP00000022102 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022102]
AlphaFold Q8BXA5
Predicted Effect probably damaging
Transcript: ENSMUST00000022102
AA Change: W512R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022102
Gene: ENSMUSG00000021610
AA Change: W512R

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 0.8947 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.6%
Validation Efficiency 98% (50/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik G A 4: 137,181,997 (GRCm39) E51K possibly damaging Het
Abca1 A C 4: 53,083,733 (GRCm39) L700R probably damaging Het
Arpc1a C A 5: 145,038,032 (GRCm39) probably null Het
Baz2b G T 2: 59,755,234 (GRCm39) P241Q probably damaging Het
Cd6 T A 19: 10,771,973 (GRCm39) T414S probably benign Het
Ces2b A T 8: 105,563,501 (GRCm39) E409D probably benign Het
Cfap54 A G 10: 92,656,981 (GRCm39) Y3024H probably benign Het
Chrm1 A G 19: 8,655,912 (GRCm39) T206A probably benign Het
Col15a1 T A 4: 47,247,552 (GRCm39) probably null Het
Cox15 A G 19: 43,725,228 (GRCm39) S392P probably damaging Het
Cplx3 A G 9: 57,521,355 (GRCm39) probably null Het
Cr2 T C 1: 194,837,508 (GRCm39) M1197V probably damaging Het
Ddx60 A G 8: 62,453,723 (GRCm39) K1281E probably benign Het
Dnah11 A G 12: 118,009,381 (GRCm39) F2094L probably damaging Het
Ear2 T A 14: 44,340,416 (GRCm39) C25S probably damaging Het
Ect2l T C 10: 18,016,012 (GRCm39) D802G probably damaging Het
Eftud2 G A 11: 102,729,449 (GRCm39) Q84* probably null Het
Eif4g3 T A 4: 137,903,143 (GRCm39) probably null Het
Ephb2 T C 4: 136,384,813 (GRCm39) D866G probably damaging Het
Farsb A G 1: 78,449,134 (GRCm39) M99T probably damaging Het
Foxs1 T A 2: 152,774,640 (GRCm39) S138C probably damaging Het
Frem1 T G 4: 82,932,069 (GRCm39) S211R probably damaging Het
Gm19410 G A 8: 36,274,730 (GRCm39) R1517Q probably benign Het
Gria2 T C 3: 80,709,611 (GRCm39) I27M probably benign Het
H2-Q7 A G 17: 35,661,654 (GRCm39) E299G probably benign Het
Hao2 T G 3: 98,784,451 (GRCm39) I305L probably benign Het
Hectd4 C T 5: 121,445,444 (GRCm39) Q122* probably null Het
Hivep1 T A 13: 42,317,760 (GRCm39) C2079S probably damaging Het
Hoxb1 C A 11: 96,257,813 (GRCm39) Q248K probably damaging Het
Hspb6 A G 7: 30,253,772 (GRCm39) D95G probably benign Het
Ighv5-2 T A 12: 113,542,126 (GRCm39) R117S probably damaging Het
Ino80d A C 1: 63,097,769 (GRCm39) S708R probably damaging Het
Mmp15 A G 8: 96,091,942 (GRCm39) N51D probably benign Het
Naip1 T C 13: 100,559,585 (GRCm39) M1140V probably benign Het
Niban2 T A 2: 32,795,838 (GRCm39) V22D probably damaging Het
Or1e1f A G 11: 73,856,291 (GRCm39) N286D probably damaging Het
Or2y8 A G 11: 52,035,520 (GRCm39) V279A probably benign Het
Or8b41 T A 9: 38,054,449 (GRCm39) M1K probably null Het
Or8k21 A G 2: 86,145,409 (GRCm39) S74P probably damaging Het
Pard3b A T 1: 62,198,629 (GRCm39) N239I probably damaging Het
Parvb C T 15: 84,182,180 (GRCm39) R237W probably damaging Het
Pcdha9 T C 18: 37,131,122 (GRCm39) S64P probably damaging Het
Pdcd1 T C 1: 93,969,114 (GRCm39) N68S probably benign Het
Pi4ka G T 16: 17,143,916 (GRCm39) probably null Het
Plekha4 A T 7: 45,190,310 (GRCm39) D359V possibly damaging Het
Serpinb13 A G 1: 106,921,792 (GRCm39) I78V probably benign Het
Slc39a7 T A 17: 34,249,082 (GRCm39) T269S probably benign Het
Sltm T G 9: 70,480,992 (GRCm39) D281E probably damaging Het
Zfp708 T C 13: 67,219,496 (GRCm39) Y76C probably damaging Het
Zfp990 T A 4: 145,263,497 (GRCm39) V165D possibly damaging 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
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
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'- TATAGGTCCCACCCTATGCTGAG -3'
(R):5'- CTTGAGGACTATTGGCTGGACTC -3'

Sequencing Primer
(F):5'- GCTCACTGACTTGGGTTATAAAAC -3'
(R):5'- GGACTATTGGCTGGACTCTCAAAAC -3'
Posted On 2018-08-01