Incidental Mutation 'R5784:Cnep1r1'
ID 502046
Institutional Source Beutler Lab
Gene Symbol Cnep1r1
Ensembl Gene ENSMUSG00000036810
Gene Name CTD nuclear envelope phosphatase 1 regulatory subunit 1
Synonyms Tmem188, 5033428A16Rik
MMRRC Submission 043381-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.363) question?
Stock # R5784 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 88845397-88861738 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 88857354 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000092839
Gene: ENSMUSG00000036810

DomainStartEndE-ValueType
Pfam:Tmemb_18A 5 122 1.6e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117775
SMART Domains Protein: ENSMUSP00000113207
Gene: ENSMUSG00000036810

DomainStartEndE-ValueType
Pfam:Tmemb_18A 3 113 6.5e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121097
SMART Domains Protein: ENSMUSP00000113435
Gene: ENSMUSG00000036810

DomainStartEndE-ValueType
Pfam:Tmemb_18A 3 98 8.6e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127490
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128290
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131891
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (51/52)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,903,441 (GRCm39) R292G possibly damaging Het
4932416K20Rik T A 8: 105,524,261 (GRCm39) noncoding transcript Het
Aox3 A G 1: 58,192,658 (GRCm39) D544G probably benign Het
Atg2a C A 19: 6,311,535 (GRCm39) A1830D probably damaging Het
Casp1 T C 9: 5,299,337 (GRCm39) I22T probably damaging Het
Ccdc141 A C 2: 76,859,671 (GRCm39) L990W probably damaging Het
Cnbd2 A G 2: 156,180,577 (GRCm39) T125A probably damaging Het
Dhx38 G T 8: 110,286,245 (GRCm39) Y348* probably null Het
Dnah7c A T 1: 46,563,228 (GRCm39) I593L possibly damaging Het
Dpep3 T C 8: 106,705,375 (GRCm39) D125G probably benign Het
Eif1ad10 T A 12: 88,216,525 (GRCm39) N116Y probably damaging Het
Epb41l4b A C 4: 57,086,003 (GRCm39) S191A probably damaging Het
Etl4 A G 2: 20,811,016 (GRCm39) Y1033C possibly damaging Het
Fam193a T C 5: 34,623,567 (GRCm39) L32P probably damaging Het
Grin2c T C 11: 115,149,121 (GRCm39) E159G possibly damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Hdhd2 A T 18: 77,054,841 (GRCm39) D205V probably damaging Het
Helz T A 11: 107,561,307 (GRCm39) N774K unknown Het
Idh3b A G 2: 130,121,591 (GRCm39) V71A probably damaging Het
Lars1 T C 18: 42,352,964 (GRCm39) M818V probably benign Het
Ltbp2 A G 12: 84,915,513 (GRCm39) V162A probably damaging Het
Ltk G A 2: 119,584,840 (GRCm39) Q136* probably null Het
Mafb A T 2: 160,208,461 (GRCm39) C46S probably damaging Het
Map1s T C 8: 71,367,002 (GRCm39) S636P probably damaging Het
Map3k13 A G 16: 21,717,391 (GRCm39) K209E possibly damaging Het
Mppe1 T C 18: 67,361,098 (GRCm39) N220D probably benign Het
Mydgf T C 17: 56,485,254 (GRCm39) probably benign Het
Myh6 T C 14: 55,190,521 (GRCm39) K999E possibly damaging Het
Nemp1 T A 10: 127,513,067 (GRCm39) V34D possibly damaging Het
Npr2 A G 4: 43,632,801 (GRCm39) E206G probably benign Het
Or10x4 G A 1: 174,218,965 (GRCm39) C110Y probably damaging Het
Or13g1 T C 7: 85,955,743 (GRCm39) N193D probably damaging Het
Or9q2 A T 19: 13,772,710 (GRCm39) H88Q probably benign Het
Papln A G 12: 83,828,754 (GRCm39) N820S probably benign Het
Pcdh10 T G 3: 45,335,075 (GRCm39) F463C probably damaging Het
Pde7a A G 3: 19,319,009 (GRCm39) V12A probably benign Het
Radil G T 5: 142,473,268 (GRCm39) H804Q possibly damaging Het
Rbfox1 A T 16: 7,042,203 (GRCm39) D39V probably damaging Het
Rims2 T G 15: 39,399,383 (GRCm39) probably null Het
Rnf121 A G 7: 101,684,583 (GRCm39) F110S probably benign Het
Saxo2 C T 7: 82,284,082 (GRCm39) V259I probably benign Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slc2a3 A T 6: 122,712,376 (GRCm39) probably null Het
Traf2 A T 2: 25,429,049 (GRCm39) V6E probably benign Het
Trim43c A T 9: 88,729,696 (GRCm39) N379I probably benign Het
Ubr4 C G 4: 139,152,529 (GRCm39) C1973W probably damaging Het
Unc13a G T 8: 72,108,310 (GRCm39) D514E possibly damaging Het
Wdr27 T A 17: 15,146,495 (GRCm39) T167S probably damaging Het
Zfp174 A T 16: 3,672,438 (GRCm39) E329V probably benign Het
Zfp422 A T 6: 116,603,771 (GRCm39) I76N probably damaging Het
Other mutations in Cnep1r1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02146:Cnep1r1 APN 8 88,856,326 (GRCm39) missense probably benign 0.21
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
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
Predicted Primers PCR Primer
(F):5'- CGATGTCGAACGGTATTAGCAG -3'
(R):5'- ATGGTTAAGACCCAGGCAGG -3'

Sequencing Primer
(F):5'- AGCCAGGTATTACTGCTGAC -3'
(R):5'- ACCCAGGCAGGTCTTAACC -3'
Posted On 2018-02-26