Incidental Mutation 'R1923:Retreg1'
ID 213240
Institutional Source Beutler Lab
Gene Symbol Retreg1
Ensembl Gene ENSMUSG00000022270
Gene Name reticulophagy regulator 1
Synonyms Fam134b, 1810015C04Rik
MMRRC Submission 039941-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R1923 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 25843266-25973773 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25969924 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 109 (D109G)
Ref Sequence ENSEMBL: ENSMUSP00000154377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022881] [ENSMUST00000110438] [ENSMUST00000226438] [ENSMUST00000227275] [ENSMUST00000228306] [ENSMUST00000228327] [ENSMUST00000228600]
AlphaFold Q8VE91
Predicted Effect probably damaging
Transcript: ENSMUST00000022881
AA Change: D267G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022881
Gene: ENSMUSG00000022270
AA Change: D267G

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: D143G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106068
Gene: ENSMUSG00000022270
AA Change: D143G

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: D151G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000227275
AA Change: D143G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000228306
AA Change: D133G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000228327
AA Change: D109G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000228600
Meta Mutation Damage Score 0.1468 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.5%
  • 20x: 92.9%
Validation Efficiency 98% (52/53)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,903,743 (GRCm39) E163G probably damaging Het
4921513D11Rik A G 17: 79,935,562 (GRCm39) probably benign Het
Acox3 T A 5: 35,749,459 (GRCm39) F195I possibly damaging Het
Acsl6 T C 11: 54,216,417 (GRCm39) Y135H probably damaging Het
Ankhd1 C A 18: 36,781,083 (GRCm39) A2045E probably benign Het
Ap5z1 A G 5: 142,458,096 (GRCm39) H423R probably benign Het
Arsk T A 13: 76,214,985 (GRCm39) probably benign Het
Bpi G A 2: 158,103,083 (GRCm39) G76D probably damaging Het
Carmil3 A G 14: 55,739,861 (GRCm39) T983A probably damaging Het
Ccdc192 A T 18: 57,666,959 (GRCm39) D12V probably damaging Het
Chmp2b A T 16: 65,342,213 (GRCm39) M125K possibly damaging Het
Clca3a2 T A 3: 144,511,491 (GRCm39) I26L probably damaging Het
Cubn T C 2: 13,315,337 (GRCm39) Y3032C probably damaging Het
Ehbp1 T A 11: 22,101,850 (GRCm39) D226V probably damaging Het
Enpp6 A T 8: 47,535,541 (GRCm39) D362V probably damaging Het
Fam53b A G 7: 132,317,521 (GRCm39) S374P probably damaging Het
Fmn1 T C 2: 113,260,066 (GRCm39) probably benign Het
Fndc7 C T 3: 108,784,003 (GRCm39) R202H probably benign Het
Frmd4b T G 6: 97,265,415 (GRCm39) D951A probably benign Het
Git2 A G 5: 114,877,162 (GRCm39) Y107H probably damaging Het
Gm11595 A T 11: 99,663,365 (GRCm39) V105E unknown Het
Krt26 CTAGTA CTA 11: 99,224,352 (GRCm39) probably benign Het
Lrriq4 C A 3: 30,713,242 (GRCm39) Q448K probably benign Het
Ly6g5c A G 17: 35,330,863 (GRCm39) I128M possibly damaging Het
Mroh9 T A 1: 162,903,860 (GRCm39) S51C probably damaging Het
Myh3 A G 11: 66,970,828 (GRCm39) S2G probably benign Het
Nat8f4 A G 6: 85,878,497 (GRCm39) Y9H probably damaging Het
Negr1 T C 3: 156,267,836 (GRCm39) V2A probably benign Het
Or2y1 C T 11: 49,386,131 (GRCm39) T257I probably damaging Het
Or7g19 C T 9: 18,856,781 (GRCm39) T279I probably benign Het
Or8k32 T G 2: 86,368,857 (GRCm39) Y132S probably damaging Het
Otog G A 7: 45,895,707 (GRCm39) C107Y probably damaging Het
Pdgfra C A 5: 75,324,394 (GRCm39) T83K probably benign Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Rgs12 T A 5: 35,189,613 (GRCm39) W674R probably damaging Het
Rgs18 T C 1: 144,631,818 (GRCm39) D98G possibly damaging Het
Rnf146 A G 10: 29,223,715 (GRCm39) F57S probably damaging Het
Skic3 T A 13: 76,282,889 (GRCm39) V737D probably damaging Het
Slc22a20 C A 19: 6,021,464 (GRCm39) V513L probably benign Het
Stox2 G T 8: 47,646,661 (GRCm39) F266L probably damaging Het
Tbx21 C T 11: 96,990,863 (GRCm39) V272M probably damaging Het
Tmc7 A G 7: 118,144,850 (GRCm39) F570S probably benign Het
Tmem236 T C 2: 14,224,117 (GRCm39) I302T probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpm3 T C 19: 22,862,776 (GRCm39) L506S probably damaging Het
Uggt1 T C 1: 36,218,694 (GRCm39) I78V probably damaging Het
Xpo4 A T 14: 57,828,328 (GRCm39) V844D probably damaging Het
Zfp507 C T 7: 35,493,150 (GRCm39) R631Q probably 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
R1965:Retreg1 UTSW 15 25,970,250 (GRCm39) missense probably damaging 1.00
R4444:Retreg1 UTSW 15 25,968,530 (GRCm39) splice site probably null
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'- TACTGTTACAGGGAAGCACTG -3'
(R):5'- ACGGGAGCACATTTTAAACTGAAG -3'

Sequencing Primer
(F):5'- GCACTGGAATGTATAGCTGGATG -3'
(R):5'- GGAGCACATTTTAAACTGAAGAAACC -3'
Posted On 2014-07-14