Incidental Mutation 'R6880:Retreg1'
ID 536631
Institutional Source Beutler Lab
Gene Symbol Retreg1
Ensembl Gene ENSMUSG00000022270
Gene Name reticulophagy regulator 1
Synonyms Fam134b, 1810015C04Rik
MMRRC Submission 044976-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R6880 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 25843266-25973773 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 25971825 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 245 (L245R)
Ref Sequence ENSEMBL: ENSMUSP00000154070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022881] [ENSMUST00000110438] [ENSMUST00000226438] [ENSMUST00000227275] [ENSMUST00000228306] [ENSMUST00000228327]
AlphaFold Q8VE91
Predicted Effect unknown
Transcript: ENSMUST00000022881
AA Change: L379R
SMART Domains Protein: ENSMUSP00000022881
Gene: ENSMUSG00000022270
AA Change: L379R

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: L255R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106068
Gene: ENSMUSG00000022270
AA Change: L255R

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: L263R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000227275
AA Change: L255R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000228306
AA Change: L245R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000228327
Meta Mutation Damage Score 0.0939 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 97% (62/64)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 T A 3: 36,123,854 (GRCm39) probably null Het
Aff3 T C 1: 38,574,243 (GRCm39) H206R probably damaging Het
Aff3 T C 1: 38,666,209 (GRCm39) D5G possibly damaging Het
Alg5 A G 3: 54,646,264 (GRCm39) E43G probably damaging Het
Ankrd36 T C 11: 5,578,748 (GRCm39) L4P probably damaging Het
Ano1 T C 7: 144,198,479 (GRCm39) Y345C probably benign Het
Atf7ip A G 6: 136,538,038 (GRCm39) I432V probably damaging Het
B230307C23Rik T C 16: 97,798,627 (GRCm39) probably benign Het
Baz2b T A 2: 59,743,283 (GRCm39) N1563Y probably damaging Het
Bhlha15 A T 5: 144,128,451 (GRCm39) T188S probably damaging Het
Cbr3 T C 16: 93,487,426 (GRCm39) V203A probably benign Het
Cpsf1 T C 15: 76,486,739 (GRCm39) T266A probably benign Het
Dnah7c T C 1: 46,566,831 (GRCm39) Y681H probably damaging Het
Dock2 C T 11: 34,579,279 (GRCm39) probably null Het
Dsc1 T A 18: 20,221,429 (GRCm39) D682V probably damaging Het
Fkbp15 A T 4: 62,254,732 (GRCm39) I256N possibly damaging Het
Foxd1 A C 13: 98,491,225 (GRCm39) D33A unknown Het
Gid4 T A 11: 60,327,261 (GRCm39) F149I probably damaging Het
Hmcn2 G T 2: 31,233,068 (GRCm39) V206L probably damaging Het
Ighg2b T C 12: 113,270,726 (GRCm39) I135V Het
Ighv1-24 T C 12: 114,736,663 (GRCm39) Y79C possibly damaging Het
Impg1 T A 9: 80,312,082 (GRCm39) D167V probably damaging Het
Jakmip1 T C 5: 37,262,967 (GRCm39) S372P possibly damaging Het
Kcnb1 T C 2: 166,947,727 (GRCm39) T374A probably damaging Het
Lrrn4 A G 2: 132,714,032 (GRCm39) S305P probably damaging Het
Ltbp1 C T 17: 75,628,044 (GRCm39) T1179I possibly damaging Het
Mab21l2 A G 3: 86,454,463 (GRCm39) I179T possibly damaging Het
Myo5b A T 18: 74,855,501 (GRCm39) H1230L probably benign Het
Myocos T C 1: 162,484,602 (GRCm39) probably null Het
Nipa2 T C 7: 55,582,999 (GRCm39) T249A probably damaging Het
Oas1a C A 5: 121,040,003 (GRCm39) R196L probably damaging Het
Or2ag18 A T 7: 106,405,019 (GRCm39) S217T probably damaging Het
Or5an11 A G 19: 12,245,974 (GRCm39) I127V probably benign Het
Or8k41 A G 2: 86,314,069 (GRCm39) F6L probably benign Het
Phxr2 G A 10: 98,961,946 (GRCm39) probably benign Het
Pigq A G 17: 26,153,802 (GRCm39) L85P probably damaging Het
Pla2g4a T A 1: 149,727,202 (GRCm39) D518V possibly damaging Het
Pm20d1 A G 1: 131,731,839 (GRCm39) K294E probably benign Het
Polr3d C A 14: 70,677,455 (GRCm39) R307L probably benign Het
Pou5f2 T C 13: 78,173,613 (GRCm39) L185P possibly damaging Het
Prex2 A T 1: 11,202,608 (GRCm39) N506Y probably damaging Het
Proser1 T A 3: 53,385,260 (GRCm39) S381T probably benign Het
Prpf4b T C 13: 35,078,436 (GRCm39) V682A possibly damaging Het
Prr14l A T 5: 32,988,211 (GRCm39) L428Q probably benign Het
Prss23 A G 7: 89,160,033 (GRCm39) V12A probably benign Het
Qki T C 17: 10,434,376 (GRCm39) D321G probably benign Het
Rab11fip5 A G 6: 85,325,827 (GRCm39) L193P probably damaging Het
Rfc1 T C 5: 65,434,729 (GRCm39) N679S probably benign Het
Rpl4 C T 9: 64,084,335 (GRCm39) A220V probably damaging Het
Rxra G A 2: 27,638,668 (GRCm39) E224K possibly damaging Het
Slc26a7 A G 4: 14,516,159 (GRCm39) C557R possibly damaging Het
Sncaip A G 18: 53,002,136 (GRCm39) K219R probably damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Sphkap A G 1: 83,234,978 (GRCm39) V1616A probably damaging Het
Sulf1 T C 1: 12,912,979 (GRCm39) C738R probably damaging Het
Suz12 T A 11: 79,892,998 (GRCm39) C38* probably null Het
Ttn T C 2: 76,550,842 (GRCm39) T23190A probably damaging Het
Twnk A G 19: 44,995,855 (GRCm39) D96G probably benign Het
Vcan T A 13: 89,860,500 (GRCm39) N289I probably damaging Het
Vmn2r120 A T 17: 57,816,187 (GRCm39) S723T probably damaging Het
Vmn2r97 A T 17: 19,134,770 (GRCm39) I63F probably benign Het
Washc5 T C 15: 59,222,021 (GRCm39) N125S probably benign Het
Zfp865 A G 7: 5,033,548 (GRCm39) Y511C 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
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
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
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'- TTTATAGATCTTGACCGGCCC -3'
(R):5'- TGATCTAGCTCTGCCTGGTC -3'

Sequencing Primer
(F):5'- CCCAGTGAGGAAGTTTTCTCTCGAG -3'
(R):5'- CTCTGCCTGGTCAAGTAGTTCAAAG -3'
Posted On 2018-10-18