Incidental Mutation 'R4444:Retreg1'
ID 329814
Institutional Source Beutler Lab
Gene Symbol Retreg1
Ensembl Gene ENSMUSG00000022270
Gene Name reticulophagy regulator 1
Synonyms Fam134b, 1810015C04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R4444 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 25843266-25973773 bp(+) (GRCm39)
Type of Mutation splice site (1752 bp from exon)
DNA Base Change (assembly) T to G at 25968530 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154407 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022881] [ENSMUST00000110438] [ENSMUST00000226438] [ENSMUST00000226750] [ENSMUST00000227275] [ENSMUST00000228306] [ENSMUST00000228327] [ENSMUST00000228600]
AlphaFold Q8VE91
Predicted Effect probably damaging
Transcript: ENSMUST00000022881
AA Change: N219K

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022881
Gene: ENSMUSG00000022270
AA Change: N219K

DomainStartEndE-ValueType
low complexity region 21 45 N/A INTRINSIC
transmembrane domain 87 109 N/A INTRINSIC
transmembrane domain 179 201 N/A INTRINSIC
low complexity region 202 216 N/A INTRINSIC
low complexity region 427 442 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110438
AA Change: N95K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106068
Gene: ENSMUSG00000022270
AA Change: N95K

DomainStartEndE-ValueType
transmembrane domain 55 77 N/A INTRINSIC
low complexity region 78 92 N/A INTRINSIC
low complexity region 303 318 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000226438
AA Change: N103K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably null
Transcript: ENSMUST00000226750
Predicted Effect probably damaging
Transcript: ENSMUST00000227275
AA Change: N95K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000228306
AA Change: N85K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000228327
AA Change: N61K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably null
Transcript: ENSMUST00000228600
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency
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 cis-Golgi transmembrane protein that may be necessary for the long-term survival of nociceptive and autonomic ganglion neurons. Mutations in this gene are a cause of hereditary sensory and autonomic neuropathy type IIB (HSAN IIB), and this gene may also play a role in susceptibility to vascular dementia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased thermal nociceptive threshold and sensory neuron degeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 G T 7: 45,785,618 (GRCm39) T695N probably benign Het
Cdkl2 G A 5: 92,168,168 (GRCm39) T342I probably benign Het
Cntn5 C A 9: 9,704,947 (GRCm39) E822D probably damaging Het
Cysltr2 G A 14: 73,267,333 (GRCm39) H126Y possibly damaging Het
Dlg2 T C 7: 91,737,801 (GRCm39) S428P probably damaging Het
Egfr A G 11: 16,821,027 (GRCm39) D314G probably benign Het
Ercc5 GAAAA GAAAAA 1: 44,197,369 (GRCm39) probably null Het
Gemin4 A G 11: 76,102,917 (GRCm39) F615L probably benign Het
Ggn A G 7: 28,871,585 (GRCm39) T322A probably benign Het
Hunk C T 16: 90,229,679 (GRCm39) A180V probably benign Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Myo1b A T 1: 51,797,078 (GRCm39) I988N probably damaging Het
Nlrp4e A G 7: 23,020,652 (GRCm39) I380V probably benign Het
Or2ag1b T A 7: 106,288,353 (GRCm39) Y195F possibly damaging Het
Plb1 G A 5: 32,487,909 (GRCm39) V930I probably benign Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Rnf13 A C 3: 57,728,010 (GRCm39) K230T probably damaging Het
Rpl9-ps1 T C 11: 83,536,207 (GRCm39) I81V possibly damaging Het
Slco1c1 A G 6: 141,492,417 (GRCm39) T267A possibly damaging Het
Spc25 A T 2: 69,035,220 (GRCm39) M47K probably benign Het
Syne2 A G 12: 76,069,804 (GRCm39) E4377G probably damaging Het
Usp34 A G 11: 23,385,998 (GRCm39) T2142A probably damaging Het
Zc3h7a A G 16: 10,968,457 (GRCm39) probably null Het
Zfp169 T A 13: 48,643,813 (GRCm39) K438M possibly damaging Het
Other mutations in Retreg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02118:Retreg1 APN 15 25,966,709 (GRCm39) splice site probably null
IGL02548:Retreg1 APN 15 25,895,204 (GRCm39) nonsense probably null
R0834:Retreg1 UTSW 15 25,971,756 (GRCm39) missense probably benign 0.01
R1923:Retreg1 UTSW 15 25,969,924 (GRCm39) missense probably damaging 1.00
R1965:Retreg1 UTSW 15 25,970,250 (GRCm39) missense probably damaging 1.00
R4529:Retreg1 UTSW 15 25,968,600 (GRCm39) missense probably damaging 1.00
R4778:Retreg1 UTSW 15 25,971,871 (GRCm39) missense possibly damaging 0.60
R5026:Retreg1 UTSW 15 25,970,214 (GRCm39) missense probably damaging 1.00
R5103:Retreg1 UTSW 15 25,968,540 (GRCm39) nonsense probably null
R6880:Retreg1 UTSW 15 25,971,825 (GRCm39) missense probably damaging 1.00
R7275:Retreg1 UTSW 15 25,971,684 (GRCm39) missense probably benign 0.44
R7357:Retreg1 UTSW 15 25,972,029 (GRCm39) missense probably damaging 0.97
R7488:Retreg1 UTSW 15 25,889,628 (GRCm39) missense
R7542:Retreg1 UTSW 15 25,941,296 (GRCm39) start codon destroyed probably null 0.10
R7599:Retreg1 UTSW 15 25,971,727 (GRCm39) missense probably benign 0.04
R7670:Retreg1 UTSW 15 25,941,126 (GRCm39) intron probably benign
R8022:Retreg1 UTSW 15 25,843,565 (GRCm39) missense
R8084:Retreg1 UTSW 15 25,969,885 (GRCm39) missense probably benign 0.26
R8734:Retreg1 UTSW 15 25,968,493 (GRCm39) missense probably damaging 1.00
R9123:Retreg1 UTSW 15 25,968,618 (GRCm39) missense probably damaging 0.99
R9125:Retreg1 UTSW 15 25,968,618 (GRCm39) missense probably damaging 0.99
R9765:Retreg1 UTSW 15 25,940,985 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TAGCCGGGGACAGTGGTTATAG -3'
(R):5'- GGAAAGACTACTCAGATTACACAGG -3'

Sequencing Primer
(F):5'- GGACAGTGGTTATAGGTTTTTATGG -3'
(R):5'- AGACCTACCAGATCTCTCAC -3'
Posted On 2015-07-21