Incidental Mutation 'R5895:Golph3'
ID 457473
Institutional Source Beutler Lab
Gene Symbol Golph3
Ensembl Gene ENSMUSG00000022200
Gene Name golgi phosphoprotein 3
Synonyms 5730410D03Rik, 4733401N08Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5895 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 12321536-12351677 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 12339756 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 90 (R90C)
Ref Sequence ENSEMBL: ENSMUSP00000154500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059680] [ENSMUST00000226517] [ENSMUST00000228671]
AlphaFold Q9CRA5
Predicted Effect probably damaging
Transcript: ENSMUST00000059680
AA Change: R90C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057375
Gene: ENSMUSG00000022200
AA Change: R90C

DomainStartEndE-ValueType
Pfam:GPP34 62 288 8.7e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226517
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227895
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228301
Predicted Effect probably damaging
Transcript: ENSMUST00000228671
AA Change: R90C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9611 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.7%
Validation Efficiency 98% (64/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a peripheral membrane protein of the Golgi stack and may have a regulatory role in Golgi trafficking. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,752,216 (GRCm39) G426S probably damaging Het
Casp4 A T 9: 5,328,573 (GRCm39) probably benign Het
Ccdc40 T A 11: 119,144,229 (GRCm39) F988Y probably damaging Het
Ccdc9b T C 2: 118,590,098 (GRCm39) T249A probably benign Het
Chd5 T A 4: 152,464,389 (GRCm39) V1516E probably benign Het
Chrnd T A 1: 87,123,389 (GRCm39) probably null Het
Col5a3 C A 9: 20,683,738 (GRCm39) G1506V unknown Het
Csgalnact2 A T 6: 118,106,215 (GRCm39) C34* probably null Het
Ddx23 T C 15: 98,549,832 (GRCm39) K195E probably benign Het
Dhps T G 8: 85,800,880 (GRCm39) S240A probably benign Het
Dnah5 T A 15: 28,234,599 (GRCm39) probably null Het
Dock10 T C 1: 80,514,676 (GRCm39) T1414A probably benign Het
Dock4 A G 12: 40,805,812 (GRCm39) D928G probably damaging Het
Dolpp1 T C 2: 30,285,658 (GRCm39) probably benign Het
Dse T A 10: 34,028,601 (GRCm39) I830F probably damaging Het
Elmod1 C T 9: 53,843,091 (GRCm39) R29Q probably damaging Het
Ephx4 T A 5: 107,577,518 (GRCm39) probably null Het
Evi5 A T 5: 107,968,302 (GRCm39) M215K probably damaging Het
Fbxl4 T C 4: 22,390,678 (GRCm39) L287P probably damaging Het
Gbp9 G A 5: 105,230,724 (GRCm39) S400L probably damaging Het
Gm6291 T C 18: 6,371,365 (GRCm39) noncoding transcript Het
Gmcl1 A T 6: 86,688,596 (GRCm39) D301E probably benign Het
Gna14 C T 19: 16,580,692 (GRCm39) R177C possibly damaging Het
Gpr142 T A 11: 114,689,785 (GRCm39) C12* probably null Het
Hat1 T A 2: 71,239,357 (GRCm39) N43K possibly damaging Het
Hivep1 A T 13: 42,310,694 (GRCm39) E978V possibly damaging Het
Hormad1 G A 3: 95,467,044 (GRCm39) probably null Het
Kalrn C T 16: 33,795,805 (GRCm39) probably benign Het
Mars1 T C 10: 127,132,418 (GRCm39) T860A probably benign Het
Mdn1 A T 4: 32,695,400 (GRCm39) L1146F probably damaging Het
Met A G 6: 17,531,581 (GRCm39) T620A probably benign Het
Mppe1 T C 18: 67,358,834 (GRCm39) E378G probably benign Het
Mybpc3 T A 2: 90,955,010 (GRCm39) V481D probably damaging Het
Myh14 A T 7: 44,256,133 (GRCm39) L1924Q probably damaging Het
Mylip G T 13: 45,562,178 (GRCm39) E327* probably null Het
Naip1 C T 13: 100,559,636 (GRCm39) G1123R probably benign Het
Naip6 A G 13: 100,452,500 (GRCm39) V187A possibly damaging Het
Ncam1 T A 9: 49,418,343 (GRCm39) T986S probably benign Het
Or13p4 T C 4: 118,547,314 (GRCm39) I112V probably damaging Het
Or4x13 T C 2: 90,231,800 (GRCm39) I265T probably benign Het
Phactr2 C T 10: 13,121,261 (GRCm39) G480S probably damaging Het
Por A G 5: 135,744,838 (GRCm39) I34V probably benign Het
Ppp2r5b C T 19: 6,284,764 (GRCm39) R33H probably damaging Het
Prkdc C A 16: 15,570,693 (GRCm39) Y2325* probably null Het
Prx A G 7: 27,214,709 (GRCm39) E73G probably damaging Het
Rbms2 C A 10: 127,981,556 (GRCm39) A126S possibly damaging Het
Rhoq C T 17: 87,302,117 (GRCm39) A111V probably damaging Het
Rpl14 T A 9: 120,403,240 (GRCm39) probably benign Het
Serbp1 A G 6: 67,249,870 (GRCm39) *75W probably null Het
Sptbn1 C A 11: 30,073,978 (GRCm39) V1351F probably damaging Het
Supt16 A G 14: 52,401,979 (GRCm39) V897A probably benign Het
Tfdp1 T A 8: 13,407,038 (GRCm39) probably null Het
Ttn T A 2: 76,780,487 (GRCm39) Y1088F probably damaging Het
Vmn2r105 G T 17: 20,448,929 (GRCm39) Q83K probably benign Het
Wdr76 A T 2: 121,359,323 (GRCm39) S221C probably damaging Het
Zfhx2 G T 14: 55,303,348 (GRCm39) F1545L probably benign Het
Zfp318 A G 17: 46,709,959 (GRCm39) I561V probably damaging Het
Other mutations in Golph3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00545:Golph3 APN 15 12,339,757 (GRCm39) missense probably damaging 1.00
IGL01672:Golph3 APN 15 12,349,643 (GRCm39) missense probably benign 0.35
IGL02232:Golph3 APN 15 12,349,578 (GRCm39) missense probably benign 0.03
IGL02567:Golph3 APN 15 12,349,507 (GRCm39) nonsense probably null
IGL02746:Golph3 APN 15 12,349,501 (GRCm39) missense probably damaging 1.00
IGL02981:Golph3 APN 15 12,349,550 (GRCm39) missense probably benign 0.23
ephemeral UTSW 15 12,339,756 (GRCm39) missense probably damaging 1.00
R0035:Golph3 UTSW 15 12,339,776 (GRCm39) missense probably damaging 1.00
R2363:Golph3 UTSW 15 12,349,649 (GRCm39) missense probably benign
R5551:Golph3 UTSW 15 12,321,922 (GRCm39) missense probably benign 0.23
R7527:Golph3 UTSW 15 12,343,404 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- TACCTGGTAAAAGGACGACCC -3'
(R):5'- AACAGTGAGGAGCATCATGC -3'

Sequencing Primer
(F):5'- GGACGACCCTTCCCCAGATC -3'
(R):5'- ACCAAGAATGCAATCCAATAAGG -3'
Posted On 2017-02-15