Incidental Mutation 'IGL02182:Resp18'
ID 283288
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Resp18
Ensembl Gene ENSMUSG00000033061
Gene Name regulated endocrine-specific protein 18
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # IGL02182
Quality Score
Status
Chromosome 1
Chromosomal Location 75248843-75255059 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75250615 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 155 (T155A)
Ref Sequence ENSEMBL: ENSMUSP00000043783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039534] [ENSMUST00000186229]
AlphaFold P47939
Predicted Effect probably benign
Transcript: ENSMUST00000039534
AA Change: T155A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000043783
Gene: ENSMUSG00000033061
AA Change: T155A

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
RESP18 37 140 1.83e-42 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000186229
SMART Domains Protein: ENSMUSP00000140605
Gene: ENSMUSG00000033061

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
RESP18 37 118 1.06e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189203
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191283
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191531
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a secreted protein that is expressed mainly in the peripheral endocrine and neuroendocrine tissues and is regulated by physiological factors that include blood glucose and dopaminergic drugs. The encoded protein is found in the lumen of the endoplasmic reticulum and is degraded in the post-ER pre-Golgi compartment. Gene knockout experiments in mice demonstrate that this gene is essential for embryonic development with embryonic lethality occurring before embryonic day 9.5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for a knock-out allele die prior to E9.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T A 8: 44,104,790 (GRCm39) N285I probably benign Het
Adprh T C 16: 38,267,838 (GRCm39) H149R probably benign Het
Ahctf1 A G 1: 179,580,643 (GRCm39) V1853A probably benign Het
Ank1 T C 8: 23,603,868 (GRCm39) V905A possibly damaging Het
Atp10b T G 11: 43,139,774 (GRCm39) L1234R probably damaging Het
Bco1 G A 8: 117,859,805 (GRCm39) A503T probably damaging Het
Clxn T A 16: 14,738,659 (GRCm39) D163E probably damaging Het
Cpz T A 5: 35,675,066 (GRCm39) Y61F probably damaging Het
Dnah8 T A 17: 31,013,737 (GRCm39) M3826K possibly damaging Het
Dtd2 A G 12: 52,046,492 (GRCm39) S116P probably benign Het
Eml5 T C 12: 98,768,581 (GRCm39) D1498G probably damaging Het
Fat4 T C 3: 38,944,695 (GRCm39) V1196A probably damaging Het
Gm15557 T C 2: 155,783,737 (GRCm39) D405G probably damaging Het
Lpp C T 16: 24,580,895 (GRCm39) R204W probably damaging Het
Mfsd11 T A 11: 116,764,740 (GRCm39) V388E possibly damaging Het
Ms4a20 A T 19: 11,074,436 (GRCm39) probably benign Het
Or10a3m A G 7: 108,313,075 (GRCm39) T160A probably benign Het
Or52b4 A G 7: 102,184,775 (GRCm39) I274V probably benign Het
Pik3cg A T 12: 32,255,272 (GRCm39) D238E possibly damaging Het
Plcb3 T C 19: 6,946,988 (GRCm39) H9R probably benign Het
Ppp3cc A C 14: 70,462,473 (GRCm39) V388G probably benign Het
Ranbp2 T A 10: 58,321,582 (GRCm39) C2626* probably null Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Scarb2 C T 5: 92,601,913 (GRCm39) S327N probably damaging Het
Secisbp2l T A 2: 125,589,497 (GRCm39) I684F probably damaging Het
Slc39a6 T C 18: 24,734,347 (GRCm39) D114G probably damaging Het
Smap1 T A 1: 23,898,180 (GRCm39) E85D probably damaging Het
Tas2r121 T A 6: 132,677,133 (GRCm39) I280F probably damaging Het
Uhrf2 T C 19: 30,016,609 (GRCm39) V86A probably benign Het
Vip A T 10: 5,593,561 (GRCm39) Y91F probably benign Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zfp618 G A 4: 63,013,798 (GRCm39) probably benign Het
Other mutations in Resp18
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2418:Resp18 UTSW 1 75,248,955 (GRCm39) makesense probably null
R5772:Resp18 UTSW 1 75,250,644 (GRCm39) missense possibly damaging 0.50
R7574:Resp18 UTSW 1 75,250,615 (GRCm39) missense probably benign 0.01
R7614:Resp18 UTSW 1 75,254,882 (GRCm39) missense probably damaging 1.00
R7895:Resp18 UTSW 1 75,254,846 (GRCm39) missense probably null 0.71
Z1088:Resp18 UTSW 1 75,254,935 (GRCm39) missense possibly damaging 0.65
Posted On 2015-04-16