Incidental Mutation 'R7614:Resp18'
ID 588749
Institutional Source Beutler Lab
Gene Symbol Resp18
Ensembl Gene ENSMUSG00000033061
Gene Name regulated endocrine-specific protein 18
Synonyms
MMRRC Submission 045682-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R7614 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 75248843-75255059 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75254882 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 24 (S24G)
Ref Sequence ENSEMBL: ENSMUSP00000043783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039534] [ENSMUST00000186229]
AlphaFold P47939
Predicted Effect probably damaging
Transcript: ENSMUST00000039534
AA Change: S24G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000043783
Gene: ENSMUSG00000033061
AA Change: S24G

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
RESP18 37 140 1.83e-42 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000186229
AA Change: S24G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000140605
Gene: ENSMUSG00000033061
AA Change: S24G

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
RESP18 37 118 1.06e-24 SMART
Meta Mutation Damage Score 0.3476 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (53/53)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 A G 1: 156,464,429 (GRCm39) T535A possibly damaging Het
Adcy9 A T 16: 4,236,088 (GRCm39) L441Q probably damaging Het
Adgrv1 A T 13: 81,668,780 (GRCm39) V2592E probably damaging Het
Ahdc1 A G 4: 132,790,825 (GRCm39) S689G probably benign Het
Ankrd24 G A 10: 81,474,523 (GRCm39) G229E unknown Het
Ankrd34c T A 9: 89,610,914 (GRCm39) I476F probably damaging Het
Arhgef19 A G 4: 140,984,090 (GRCm39) H770R possibly damaging Het
Arhgef4 T G 1: 34,771,316 (GRCm39) S1208A possibly damaging Het
Arid1a A T 4: 133,418,466 (GRCm39) M654K unknown Het
Atp11b T A 3: 35,864,259 (GRCm39) probably null Het
Cadps A G 14: 12,454,260 (GRCm38) I1086T probably damaging Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cfap276 T A 3: 108,449,848 (GRCm39) D42E probably benign Het
Cntn3 T C 6: 102,142,337 (GRCm39) H1010R probably benign Het
Cyp2c66 T A 19: 39,159,472 (GRCm39) Y308N probably damaging Het
Dok6 T A 18: 89,492,067 (GRCm39) H170L probably damaging Het
Eefsec C T 6: 88,258,576 (GRCm39) D506N possibly damaging Het
Fam181a C T 12: 103,282,805 (GRCm39) P237S probably damaging Het
Fam186b T C 15: 99,184,867 (GRCm39) I19V probably damaging Het
Gm3285 A T 10: 77,697,865 (GRCm39) T5S unknown Het
Heg1 A G 16: 33,547,733 (GRCm39) E864G probably benign Het
Herc2 T A 7: 55,803,023 (GRCm39) L2124* probably null Het
Hexa T C 9: 59,469,230 (GRCm39) S331P probably damaging Het
Hspb1 A T 5: 135,917,223 (GRCm39) D104V probably damaging Het
Ikzf1 A T 11: 11,719,019 (GRCm39) Q329L probably damaging Het
Kcnf1 C A 12: 17,224,787 (GRCm39) R478L probably benign Het
Kdm3a T C 6: 71,568,937 (GRCm39) T1161A possibly damaging Het
Krtap31-2 T C 11: 99,827,429 (GRCm39) I87T possibly damaging Het
Lars2 T C 9: 123,224,176 (GRCm39) S116P Het
Lrrk2 A G 15: 91,657,061 (GRCm39) D1785G probably damaging Het
Myo10 A G 15: 25,701,709 (GRCm39) H61R probably benign Het
Or10x4 T G 1: 174,219,220 (GRCm39) F195C probably damaging Het
Or9s13 A G 1: 92,548,183 (GRCm39) Y185C probably damaging Het
Pcdhb4 C A 18: 37,442,602 (GRCm39) H637Q probably benign Het
Pcsk9 T A 4: 106,304,763 (GRCm39) D435V probably benign Het
Prickle2 T A 6: 92,402,631 (GRCm39) Y119F possibly damaging Het
Prr5 A G 15: 84,641,276 (GRCm39) T181A probably benign Het
Psd T A 19: 46,301,877 (GRCm39) Q903L probably damaging Het
Ptpn13 T A 5: 103,649,331 (GRCm39) S245T probably benign Het
Slc17a4 T C 13: 24,090,580 (GRCm39) T89A probably benign Het
Slc9a9 A G 9: 94,737,792 (GRCm39) Y233C probably damaging Het
Slit1 T A 19: 41,622,639 (GRCm39) I707F probably damaging Het
Sp4 T C 12: 118,218,174 (GRCm39) E691G possibly damaging Het
Sun2 G T 15: 79,623,225 (GRCm39) probably null Het
Syne3 T C 12: 104,912,901 (GRCm39) T723A not run Het
Tcp1 T A 17: 13,141,540 (GRCm39) F340I possibly damaging Het
Tmem39b A T 4: 129,587,694 (GRCm39) V39D probably damaging Het
Tmtc3 A T 10: 100,286,214 (GRCm39) Y536* probably null Het
Tnfrsf11a A T 1: 105,755,094 (GRCm39) T389S probably damaging Het
Ttn T C 2: 76,598,873 (GRCm39) T19347A possibly damaging Het
Vmn1r68 A G 7: 10,261,553 (GRCm39) S182P probably benign Het
Vmn2r95 A G 17: 18,660,352 (GRCm39) T255A probably benign Het
Wdr59 T C 8: 112,219,394 (GRCm39) Y221C Het
Other mutations in Resp18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02182:Resp18 APN 1 75,250,615 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- ATGCCAAGACTGCTTCTGTCC -3'
(R):5'- TCTGCAGATCTCTTGTCGCG -3'

Sequencing Primer
(F):5'- AAGACTGCTTCTGTCCCGCTG -3'
(R):5'- GCAGATCTCTTGTCGCGTCTCTAG -3'
Posted On 2019-10-24