Incidental Mutation 'R5772:Resp18'
ID 445418
Institutional Source Beutler Lab
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 # R5772 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 75248843-75255059 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75250644 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 145 (V145A)
Ref Sequence ENSEMBL: ENSMUSP00000043783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039534] [ENSMUST00000186229]
AlphaFold P47939
Predicted Effect possibly damaging
Transcript: ENSMUST00000039534
AA Change: V145A

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000043783
Gene: ENSMUSG00000033061
AA Change: V145A

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
Meta Mutation Damage Score 0.1329 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (64/65)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932416K20Rik G A 8: 105,524,271 (GRCm39) noncoding transcript Het
Abcg8 A T 17: 84,994,127 (GRCm39) E48V probably damaging Het
Afap1l2 T C 19: 56,911,406 (GRCm39) T289A probably benign Het
Atf6 T A 1: 170,574,758 (GRCm39) D560V probably damaging Het
Bcl2l14 A T 6: 134,404,362 (GRCm39) K183N probably damaging Het
Carmil3 T C 14: 55,730,696 (GRCm39) L52P probably damaging Het
Cct3 T A 3: 88,208,274 (GRCm39) N61K probably damaging Het
Col18a1 A G 10: 77,002,177 (GRCm39) V10A unknown Het
Col26a1 G A 5: 136,876,420 (GRCm39) Q67* probably null Het
Cyp2d34 T C 15: 82,501,341 (GRCm39) D329G probably null Het
Dchs1 T A 7: 105,422,247 (GRCm39) I58F probably damaging Het
Ddx60 T C 8: 62,401,931 (GRCm39) L269P probably damaging Het
Dis3l2 G A 1: 86,806,154 (GRCm39) G325D probably damaging Het
Dync1h1 A T 12: 110,612,707 (GRCm39) K2861* probably null Het
Ednra A G 8: 78,401,696 (GRCm39) I198T possibly damaging Het
Ep300 T C 15: 81,524,115 (GRCm39) probably benign Het
Fam120a G A 13: 49,034,409 (GRCm39) P1068S probably benign Het
Fsip2 A T 2: 82,815,084 (GRCm39) M3606L probably benign Het
Garre1 A T 7: 33,953,413 (GRCm39) W238R probably damaging Het
Gm7713 T C 15: 59,866,492 (GRCm39) noncoding transcript Het
Gprin3 A T 6: 59,331,398 (GRCm39) V303D possibly damaging Het
Hmcn1 A T 1: 150,570,629 (GRCm39) V2178D possibly damaging Het
Hoxa11 A G 6: 52,222,380 (GRCm39) V107A possibly damaging Het
Iqub C A 6: 24,454,250 (GRCm39) M544I possibly damaging Het
Itgb4 A T 11: 115,879,258 (GRCm39) probably benign Het
Itpkb A G 1: 180,161,818 (GRCm39) probably benign Het
Kalrn A T 16: 33,796,190 (GRCm39) V1195E probably damaging Het
Kif12 C A 4: 63,084,178 (GRCm39) R608M probably damaging Het
Lcorl A T 5: 45,952,709 (GRCm39) probably null Het
Lrrc24 T C 15: 76,606,910 (GRCm39) E162G probably damaging Het
Med6 A G 12: 81,626,418 (GRCm39) S119P probably damaging Het
Mmab A C 5: 114,574,775 (GRCm39) L166R probably damaging Het
Myef2l A G 3: 10,153,566 (GRCm39) R112G probably damaging Het
Nom1 A G 5: 29,651,873 (GRCm39) K737R possibly damaging Het
Obscn T C 11: 58,946,970 (GRCm39) S4352G probably damaging Het
Or10ag60 A T 2: 87,438,517 (GRCm39) T262S probably benign Het
Or2w25 T A 11: 59,504,712 (GRCm39) D307E probably benign Het
Or4k35 A T 2: 111,100,057 (GRCm39) Y218* probably null Het
Or6d12 A C 6: 116,492,912 (GRCm39) D58A possibly damaging Het
Pdzrn3 G A 6: 101,149,275 (GRCm39) S351L probably benign Het
Pdzrn4 A T 15: 92,655,562 (GRCm39) E485V probably damaging Het
Prkdc T A 16: 15,597,252 (GRCm39) I2804K possibly damaging Het
Psg28 A G 7: 18,164,640 (GRCm39) L24P probably damaging Het
Rgl3 T C 9: 21,892,908 (GRCm39) M259V probably benign Het
Rhot2 A T 17: 26,058,781 (GRCm39) S540T probably benign Het
Ring1 T C 17: 34,241,282 (GRCm39) Y278C possibly damaging Het
Rpn2 A G 2: 157,137,265 (GRCm39) Y216C probably damaging Het
Scgb2b18 G A 7: 32,873,255 (GRCm39) L5F unknown Het
Slamf7 T C 1: 171,466,838 (GRCm39) probably null Het
Slc22a12 T C 19: 6,590,479 (GRCm39) N237S possibly damaging Het
Spen A T 4: 141,205,495 (GRCm39) V1044D unknown Het
Sqor A T 2: 122,651,261 (GRCm39) M175L probably benign Het
Stx16 G A 2: 173,935,292 (GRCm39) G156R probably damaging Het
Tars3 T G 7: 65,333,873 (GRCm39) F632V probably damaging Het
Tln1 A G 4: 43,545,191 (GRCm39) V1008A probably benign Het
Tmem145 A G 7: 25,015,039 (GRCm39) H554R probably benign Het
Trank1 A T 9: 111,195,744 (GRCm39) D1256V possibly damaging Het
Trbv19 A G 6: 41,155,794 (GRCm39) Y55C possibly damaging Het
Ttc23l C T 15: 10,551,555 (GRCm39) C57Y probably benign Het
Uap1 A T 1: 169,988,949 (GRCm39) C158S probably benign Het
Zfp353-ps T A 8: 42,535,647 (GRCm39) noncoding transcript Het
Zfp629 T A 7: 127,210,307 (GRCm39) I501F probably damaging Het
Zfp820 T C 17: 22,037,702 (GRCm39) Y542C probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- TCCTCTCTCATCTGGATGTCTAGATAG -3'
(R):5'- TCTCCCCAAAAGGTGAGACC -3'

Sequencing Primer
(F):5'- AACAAGTAGGACTACCCTTTGG -3'
(R):5'- AAAGGTGAGACCATTTATCTTCCCC -3'
Posted On 2016-11-21