Incidental Mutation 'IGL02146:Cnep1r1'
ID 281744
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cnep1r1
Ensembl Gene ENSMUSG00000036810
Gene Name CTD nuclear envelope phosphatase 1 regulatory subunit 1
Synonyms Tmem188, 5033428A16Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.363) question?
Stock # IGL02146
Quality Score
Status
Chromosome 8
Chromosomal Location 88845397-88861738 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88856326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 34 (V34A)
Ref Sequence ENSEMBL: ENSMUSP00000120121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095214] [ENSMUST00000117775] [ENSMUST00000121097] [ENSMUST00000127490]
AlphaFold Q3UJ81
Predicted Effect probably benign
Transcript: ENSMUST00000095214
AA Change: S59P

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000092839
Gene: ENSMUSG00000036810
AA Change: S59P

DomainStartEndE-ValueType
Pfam:Tmemb_18A 5 122 1.6e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117775
AA Change: S59P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000113207
Gene: ENSMUSG00000036810
AA Change: S59P

DomainStartEndE-ValueType
Pfam:Tmemb_18A 3 113 6.5e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121097
AA Change: S59P

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000113435
Gene: ENSMUSG00000036810
AA Change: S59P

DomainStartEndE-ValueType
Pfam:Tmemb_18A 3 98 8.6e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127490
AA Change: V34A

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128290
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131891
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein that belongs to the Tmemb_18A family. A similar protein in yeast is a component of an endoplasmic reticulum-associated protein phosphatase complex and is thought to play a role in the synthesis of triacylglycerol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A G 9: 57,164,023 (GRCm39) C784R possibly damaging Het
Akp3 A T 1: 87,054,297 (GRCm39) D278V probably benign Het
Atxn7l1 G T 12: 33,418,030 (GRCm39) R730S probably benign Het
Bag6 A G 17: 35,355,191 (GRCm39) T30A probably damaging Het
Blk G T 14: 63,611,648 (GRCm39) P429H probably damaging Het
Bmp2k T A 5: 97,212,689 (GRCm39) M524K unknown Het
Bst1 T A 5: 43,983,678 (GRCm39) H221Q probably damaging Het
Ces2g T C 8: 105,693,576 (GRCm39) I419T possibly damaging Het
Ctnnbl1 A G 2: 157,661,414 (GRCm39) E308G probably damaging Het
Cyp20a1 A T 1: 60,410,410 (GRCm39) K237I possibly damaging Het
Dlg5 T C 14: 24,252,429 (GRCm39) T104A probably damaging Het
Dnaaf11 C T 15: 66,361,374 (GRCm39) W42* probably null Het
Dnaaf11 C A 15: 66,361,375 (GRCm39) W42L probably benign Het
Dnah9 C T 11: 65,818,526 (GRCm39) V3271M probably damaging Het
Eed T A 7: 89,618,803 (GRCm39) N204Y possibly damaging Het
Fat3 A G 9: 15,910,878 (GRCm39) V1708A probably benign Het
Fcrl6 T C 1: 172,426,264 (GRCm39) T178A probably benign Het
Galnt4 A C 10: 98,945,563 (GRCm39) K429N possibly damaging Het
Ints6 T A 14: 62,996,709 (GRCm39) T94S possibly damaging Het
Iqsec3 A T 6: 121,360,916 (GRCm39) S981T probably damaging Het
Itga9 T A 9: 118,663,400 (GRCm39) S146T possibly damaging Het
Itpr3 A G 17: 27,336,249 (GRCm39) Y2325C probably damaging Het
Kng2 T A 16: 22,806,582 (GRCm39) Q539L probably damaging Het
Lmtk3 T A 7: 45,444,371 (GRCm39) probably benign Het
Map1a T C 2: 121,129,927 (GRCm39) Y248H probably damaging Het
Mroh1 A G 15: 76,318,879 (GRCm39) probably benign Het
Mroh2b T C 15: 4,980,776 (GRCm39) probably null Het
Myo18b A T 5: 112,991,151 (GRCm39) M942K probably damaging Het
Myzap T A 9: 71,471,730 (GRCm39) T94S probably benign Het
Nebl C A 2: 17,353,679 (GRCm39) R957S probably damaging Het
Nexn A T 3: 151,952,885 (GRCm39) D278E probably benign Het
Nlgn1 A T 3: 25,966,846 (GRCm39) N222K probably damaging Het
Or6c76 T A 10: 129,612,727 (GRCm39) probably benign Het
Or8d1 G A 9: 38,766,654 (GRCm39) A99T probably benign Het
Osbpl6 A T 2: 76,380,094 (GRCm39) R79S possibly damaging Het
Phip T C 9: 82,763,771 (GRCm39) I1268M probably benign Het
Pkd2 G T 5: 104,637,157 (GRCm39) R590L probably damaging Het
Reg2 G A 6: 78,382,568 (GRCm39) probably benign Het
Scaf1 A T 7: 44,662,934 (GRCm39) D26E probably damaging Het
Ska1 A G 18: 74,329,981 (GRCm39) I253T possibly damaging Het
Slc11a2 T C 15: 100,299,169 (GRCm39) N443D probably damaging Het
Slc6a12 A T 6: 121,330,460 (GRCm39) T155S probably benign Het
Slit3 A G 11: 35,125,675 (GRCm39) K118R possibly damaging Het
Snap23 T G 2: 120,429,792 (GRCm39) N212K probably damaging Het
Snx13 T A 12: 35,151,078 (GRCm39) D346E probably benign Het
Sumf1 C A 6: 108,150,392 (GRCm39) probably null Het
Susd2 T C 10: 75,474,267 (GRCm39) N479S possibly damaging Het
Tiam1 A G 16: 89,646,569 (GRCm39) I821T probably benign Het
Tll2 C A 19: 41,086,276 (GRCm39) V651L probably benign Het
Vmn2r1 A G 3: 64,012,104 (GRCm39) D655G probably benign Het
Vmn2r72 T C 7: 85,387,170 (GRCm39) Y798C probably damaging Het
Vps13b A C 15: 35,646,479 (GRCm39) I1528L probably benign Het
Wdtc1 G A 4: 133,029,076 (GRCm39) L337F probably benign Het
Zfp128 A C 7: 12,623,959 (GRCm39) K109T possibly damaging Het
Other mutations in Cnep1r1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2062:Cnep1r1 UTSW 8 88,845,445 (GRCm39) start gained probably benign
R2065:Cnep1r1 UTSW 8 88,845,445 (GRCm39) start gained probably benign
R2066:Cnep1r1 UTSW 8 88,845,445 (GRCm39) start gained probably benign
R5784:Cnep1r1 UTSW 8 88,857,354 (GRCm39) intron probably benign
R6451:Cnep1r1 UTSW 8 88,846,438 (GRCm39) missense probably damaging 1.00
R7556:Cnep1r1 UTSW 8 88,851,761 (GRCm39) missense probably damaging 0.99
R8991:Cnep1r1 UTSW 8 88,856,447 (GRCm39) missense unknown
R9610:Cnep1r1 UTSW 8 88,860,457 (GRCm39) makesense probably null
R9611:Cnep1r1 UTSW 8 88,860,457 (GRCm39) makesense probably null
Posted On 2015-04-16