Incidental Mutation 'R1355:Rer1'
ID 156270
Institutional Source Beutler Lab
Gene Symbol Rer1
Ensembl Gene ENSMUSG00000029048
Gene Name retention in endoplasmic reticulum sorting receptor 1
Synonyms 1110060F11Rik, 5830454N22Rik
MMRRC Submission 039420-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1355 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 155158567-155170839 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 155160081 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 156 (M156L)
Ref Sequence ENSEMBL: ENSMUSP00000030914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030914] [ENSMUST00000103180]
AlphaFold Q9CQU3
Predicted Effect probably benign
Transcript: ENSMUST00000030914
AA Change: M156L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000030914
Gene: ENSMUSG00000029048
AA Change: M156L

DomainStartEndE-ValueType
Pfam:Rer1 20 185 4.1e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103180
SMART Domains Protein: ENSMUSP00000099469
Gene: ENSMUSG00000029047

DomainStartEndE-ValueType
Pfam:Pex2_Pex12 16 241 2.3e-43 PFAM
low complexity region 248 260 N/A INTRINSIC
RING 271 308 4.48e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125432
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149796
Meta Mutation Damage Score 0.0809 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.4%
Validation Efficiency 100% (57/57)
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 multi-pass membrane protein that is localized to the golgi apparatus. It is involved in the retention of endoplasmic reticulum (ER) membrane proteins in the ER and retrieval of ER membrane proteins from the early Golgi compartment to facilitate gamma-secretase complex assembly. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice heterozygous for a gene trap allele exhibit a slight reduction in the size of neuromuscular junctions and muscle fiber diameter. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Ankrd52 A G 10: 128,224,565 (GRCm39) D781G possibly damaging Het
Arhgef5 T A 6: 43,260,846 (GRCm39) F1424I probably damaging Het
Atp10b G A 11: 43,042,482 (GRCm39) W14* probably null Het
B4galnt4 T C 7: 140,645,308 (GRCm39) V259A probably damaging Het
Ccdc141 A T 2: 76,860,945 (GRCm39) I944N probably damaging Het
Ccdc146 A T 5: 21,526,240 (GRCm39) D224E probably damaging Het
Ccne1 A G 7: 37,805,747 (GRCm39) I43T possibly damaging Het
Cd226 T A 18: 89,265,147 (GRCm39) S29T probably benign Het
Cebpz G T 17: 79,242,753 (GRCm39) D300E probably benign Het
Cryzl1 A G 16: 91,489,546 (GRCm39) V266A possibly damaging Het
Cyp2c68 A G 19: 39,729,400 (GRCm39) L29P probably damaging Het
Dennd3 A C 15: 73,412,703 (GRCm39) probably benign Het
Dpy19l4 C T 4: 11,303,371 (GRCm39) W183* probably null Het
Eml6 T G 11: 29,783,085 (GRCm39) S599R probably benign Het
Erc1 A T 6: 119,720,381 (GRCm39) L440* probably null Het
Frem3 A G 8: 81,417,331 (GRCm39) Y2012C probably damaging Het
Garin5a A G 7: 44,146,115 (GRCm39) K2E possibly damaging Het
Gm10288 A T 3: 146,544,748 (GRCm39) noncoding transcript Het
Gm1110 T A 9: 26,795,057 (GRCm39) K476N probably benign Het
Gm11937 A T 11: 99,500,733 (GRCm39) S95T possibly damaging Het
H2bc13 T A 13: 21,900,027 (GRCm39) Q96L probably damaging Het
Hs6st1 T A 1: 36,142,657 (GRCm39) H197Q probably damaging Het
Ism1 A T 2: 139,573,994 (GRCm39) I115F possibly damaging Het
Itgb8 C T 12: 119,134,738 (GRCm39) G443E probably benign Het
Kalrn T A 16: 33,795,954 (GRCm39) I1274F possibly damaging Het
Lrrcc1 G T 3: 14,613,174 (GRCm39) V299L probably benign Het
Mettl5 A T 2: 69,711,764 (GRCm39) probably null Het
Mtcl3 A T 10: 29,023,318 (GRCm39) T222S probably benign Het
Nlrp2 G T 7: 5,330,490 (GRCm39) N635K possibly damaging Het
Or4c3d G A 2: 89,881,957 (GRCm39) T237I probably benign Het
Or5ac16 A G 16: 59,022,043 (GRCm39) S249P probably damaging Het
Or5b112 T A 19: 13,319,882 (GRCm39) Y253* probably null Het
Or8g18 G C 9: 39,149,547 (GRCm39) P58A probably benign Het
Plxna1 A G 6: 89,297,748 (GRCm39) probably benign Het
Ppp4r1 A T 17: 66,147,982 (GRCm39) E924D probably benign Het
Prdm2 C T 4: 142,858,533 (GRCm39) V1586I probably benign Het
Pros1 A G 16: 62,739,921 (GRCm39) K457E probably benign Het
Rgs16 A T 1: 153,619,414 (GRCm39) K140M probably damaging Het
Rgsl1 A G 1: 153,683,507 (GRCm39) M1T probably null Het
Setdb2 T A 14: 59,654,890 (GRCm39) K333N probably damaging Het
Sgo2a A G 1: 58,057,124 (GRCm39) T1103A possibly damaging Het
Sik3 C T 9: 46,107,170 (GRCm39) probably benign Het
Slc44a3 C A 3: 121,325,320 (GRCm39) G47V probably damaging Het
Snrpd1 G A 18: 10,627,818 (GRCm39) G103D probably benign Het
Sspo T A 6: 48,425,560 (GRCm39) S60R probably benign Het
Susd1 C T 4: 59,424,114 (GRCm39) C37Y possibly damaging Het
Tiam1 A T 16: 89,695,109 (GRCm39) I116N probably benign Het
Ttc3 A G 16: 94,219,496 (GRCm39) S492G possibly damaging Het
Uckl1 G T 2: 181,215,169 (GRCm39) T213K probably damaging Het
Usp38 T C 8: 81,711,662 (GRCm39) E791G possibly damaging Het
Vps13b C T 15: 35,422,600 (GRCm39) R187C probably damaging Het
Vwa3a A G 7: 120,383,334 (GRCm39) Y645C probably damaging Het
Wasf3 T C 5: 146,407,018 (GRCm39) probably benign Het
Other mutations in Rer1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00912:Rer1 APN 4 155,167,122 (GRCm39) critical splice donor site probably null
R1370:Rer1 UTSW 4 155,160,081 (GRCm39) missense probably benign 0.00
R1564:Rer1 UTSW 4 155,160,050 (GRCm39) missense probably damaging 1.00
R1722:Rer1 UTSW 4 155,159,458 (GRCm39) missense probably damaging 0.99
R1907:Rer1 UTSW 4 155,162,956 (GRCm39) missense possibly damaging 0.56
R9666:Rer1 UTSW 4 155,160,044 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AGAAGCCGAGCACAGTCAGTCATC -3'
(R):5'- TTTGGACCAAATGTCCCCTGGAGC -3'

Sequencing Primer
(F):5'- TCACACACAGAAAGCGATGG -3'
(R):5'- CAAAGGAGCCAAAGTCTTTGTTG -3'
Posted On 2014-02-11