Incidental Mutation 'R6451:Cnep1r1'
ID 516347
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 044587-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.363) question?
Stock # R6451 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 88845397-88861738 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88846438 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 19 (E19G)
Ref Sequence ENSEMBL: ENSMUSP00000120121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095214] [ENSMUST00000117775] [ENSMUST00000121097] [ENSMUST00000127490]
AlphaFold Q3UJ81
Predicted Effect probably damaging
Transcript: ENSMUST00000095214
AA Change: E19G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000092839
Gene: ENSMUSG00000036810
AA Change: E19G

DomainStartEndE-ValueType
Pfam:Tmemb_18A 5 122 1.6e-61 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117775
AA Change: E19G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113207
Gene: ENSMUSG00000036810
AA Change: E19G

DomainStartEndE-ValueType
Pfam:Tmemb_18A 3 113 6.5e-58 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121097
AA Change: E19G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113435
Gene: ENSMUSG00000036810
AA Change: E19G

DomainStartEndE-ValueType
Pfam:Tmemb_18A 3 98 8.6e-44 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000127490
AA Change: E19G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128290
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131891
Meta Mutation Damage Score 0.7869 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.9%
Validation Efficiency 98% (39/40)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 79,842,733 (GRCm39) V1164E probably damaging Het
Acnat2 A G 4: 49,380,262 (GRCm39) V372A probably benign Het
Adam17 A T 12: 21,392,883 (GRCm39) D313E probably benign Het
Adgrf5 A T 17: 43,735,709 (GRCm39) R200* probably null Het
Akr1d1 G A 6: 37,527,150 (GRCm39) E129K probably benign Het
Arhgap29 T A 3: 121,787,230 (GRCm39) V382E probably damaging Het
Arhgef40 G A 14: 52,238,456 (GRCm39) V1312I probably damaging Het
Bbs9 A G 9: 22,479,060 (GRCm39) S168G probably damaging Het
Carmil1 T A 13: 24,276,541 (GRCm39) K202* probably null Het
Dnah1 T A 14: 31,022,765 (GRCm39) Q1124L probably benign Het
Dph1 G T 11: 75,072,143 (GRCm39) A242D probably damaging Het
Efcab7 T A 4: 99,719,738 (GRCm39) Y73* probably null Het
Esp18 G T 17: 39,720,853 (GRCm39) E33* probably null Het
Fbln2 T A 6: 91,211,241 (GRCm39) I395K probably benign Het
Grin3a C T 4: 49,844,969 (GRCm39) C38Y probably damaging Het
Hivep3 T A 4: 119,956,105 (GRCm39) S1474T probably benign Het
Hmcn1 C T 1: 150,868,670 (GRCm39) V45M probably damaging Het
Intu T A 3: 40,655,723 (GRCm39) F937I possibly damaging Het
Llgl2 G A 11: 115,735,767 (GRCm39) G121D probably damaging Het
Myo7a C T 7: 97,722,374 (GRCm39) V1184M probably benign Het
Nsmce4a G T 7: 130,144,479 (GRCm39) Het
Or5w20 T C 2: 87,726,935 (GRCm39) Y131H probably damaging Het
Or6c69c A T 10: 129,911,007 (GRCm39) M243L probably benign Het
Phactr1 T A 13: 43,286,469 (GRCm39) V590E probably damaging Het
Pigo G A 4: 43,021,412 (GRCm39) S510L probably benign Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Rnf19a A G 15: 36,253,205 (GRCm39) I378T possibly damaging Het
Rnf216 G T 5: 142,978,589 (GRCm39) P793T possibly damaging Het
Samd8 T C 14: 21,833,866 (GRCm39) probably null Het
Son T A 16: 91,454,490 (GRCm39) M1079K probably damaging Het
Spata7 T A 12: 98,624,596 (GRCm39) M166K probably benign Het
Spta1 G A 1: 174,044,767 (GRCm39) E1468K probably damaging Het
Taar3 A T 10: 23,825,705 (GRCm39) I84F possibly damaging Het
Tas2r107 T A 6: 131,636,977 (GRCm39) D24V possibly damaging Het
Tmc2 A G 2: 130,106,123 (GRCm39) R885G probably damaging Het
Tox3 C A 8: 90,984,687 (GRCm39) R164L probably benign Het
Ttc5 A G 14: 51,004,664 (GRCm39) I380T probably damaging Het
Vmn1r179 A G 7: 23,628,076 (GRCm39) N89S possibly damaging Het
Zfp944 T C 17: 22,557,846 (GRCm39) E467G probably benign Het
Zzef1 A T 11: 72,813,982 (GRCm39) D2857V possibly 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
R5784:Cnep1r1 UTSW 8 88,857,354 (GRCm39) intron probably benign
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'- GCTTCTAAAAGTAGACCAACTGG -3'
(R):5'- TTCTGTGTAATACGTTGTCAACAGC -3'

Sequencing Primer
(F):5'- GGGATGAACGAAAAATGATGTTTTTG -3'
(R):5'- TTTAATCCCAGCACTCAGGAGG -3'
Posted On 2018-05-21