Incidental Mutation 'R2363:Golph3'
ID 247247
Institutional Source Beutler Lab
Gene Symbol Golph3
Ensembl Gene ENSMUSG00000022200
Gene Name golgi phosphoprotein 3
Synonyms 5730410D03Rik, 4733401N08Rik
MMRRC Submission 040344-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2363 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 12321536-12351677 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 12349649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 223 (D223G)
Ref Sequence ENSEMBL: ENSMUSP00000057375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059680] [ENSMUST00000226517] [ENSMUST00000228671]
AlphaFold Q9CRA5
Predicted Effect probably benign
Transcript: ENSMUST00000059680
AA Change: D223G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000057375
Gene: ENSMUSG00000022200
AA Change: D223G

DomainStartEndE-ValueType
Pfam:GPP34 62 288 8.7e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226517
Predicted Effect probably benign
Transcript: ENSMUST00000228671
Meta Mutation Damage Score 0.0630 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 98% (51/52)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 T C 2: 103,397,528 (GRCm39) C153R probably damaging Het
Adam23 A G 1: 63,596,650 (GRCm39) probably null Het
Adpgk G T 9: 59,222,136 (GRCm39) M354I probably benign Het
Atmin G T 8: 117,681,653 (GRCm39) probably null Het
C1rl G A 6: 124,486,069 (GRCm39) G480D probably benign Het
C4b G A 17: 34,955,032 (GRCm39) probably benign Het
Cacnb1 G A 11: 97,903,672 (GRCm39) T127I possibly damaging Het
Cmya5 A T 13: 93,230,210 (GRCm39) V1626E probably benign Het
Cndp2 C T 18: 84,686,694 (GRCm39) G443S probably damaging Het
Crb1 A G 1: 139,265,016 (GRCm39) I134T possibly damaging Het
Dnaaf3 T C 7: 4,535,276 (GRCm39) probably null Het
Enam C T 5: 88,651,008 (GRCm39) P764L probably benign Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Fbln1 G A 15: 85,111,341 (GRCm39) probably null Het
Flnb A G 14: 7,945,950 (GRCm38) I2452V possibly damaging Het
Fmo3 A T 1: 162,781,884 (GRCm39) W490R probably damaging Het
Gabrb1 C T 5: 72,026,916 (GRCm39) R106* probably null Het
Galnt4 C T 10: 98,944,923 (GRCm39) T216I probably damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Herc4 T A 10: 63,151,473 (GRCm39) F905I possibly damaging Het
Il23r T C 6: 67,429,401 (GRCm39) T314A probably benign Het
Lrrtm4 T C 6: 79,998,857 (GRCm39) W90R probably damaging Het
Maml2 C T 9: 13,532,541 (GRCm39) T585I probably damaging Het
Mpp3 G A 11: 101,911,312 (GRCm39) A170V probably damaging Het
Naip6 T A 13: 100,452,928 (GRCm39) K44N possibly damaging Het
Or10aa3 C T 1: 173,878,814 (GRCm39) R292C probably damaging Het
Or10ak7 C T 4: 118,791,230 (GRCm39) E272K probably benign Het
Or1e17 A G 11: 73,831,182 (GRCm39) T37A possibly damaging Het
Or4k51 C T 2: 111,585,139 (GRCm39) P182S probably damaging Het
Or51b6 T A 7: 103,556,267 (GRCm39) M207K probably benign Het
Or6f2 A G 7: 139,756,878 (GRCm39) T282A probably damaging Het
Or7e165 T G 9: 19,694,892 (GRCm39) I154M probably benign Het
Or8c10 T C 9: 38,279,394 (GRCm39) I174T probably damaging Het
Pak1 T A 7: 97,535,521 (GRCm39) V204E probably benign Het
Pcdhb10 T A 18: 37,547,190 (GRCm39) C755* probably null Het
Pcdhb20 A G 18: 37,638,725 (GRCm39) Y417C probably damaging Het
Pkd1l3 G T 8: 110,355,341 (GRCm39) W723L probably benign Het
Plin1 C T 7: 79,376,139 (GRCm39) probably null Het
Polr3a A T 14: 24,525,960 (GRCm39) probably null Het
Ranbp2 A T 10: 58,314,758 (GRCm39) K1826I possibly damaging Het
Rapgef1 A G 2: 29,626,608 (GRCm39) I970V possibly damaging Het
Rdx C A 9: 51,980,173 (GRCm39) F255L probably damaging Het
Rp1l1 A T 14: 64,267,447 (GRCm39) H1011L possibly damaging Het
Serpina6 T C 12: 103,614,868 (GRCm39) D326G probably benign Het
Sh3tc2 A G 18: 62,123,966 (GRCm39) E909G probably benign Het
Shprh T A 10: 11,047,697 (GRCm39) V1015D probably damaging Het
Slfn8 A T 11: 82,894,920 (GRCm39) Y629N probably damaging Het
Triml1 A G 8: 43,594,408 (GRCm39) S8P 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
R5551:Golph3 UTSW 15 12,321,922 (GRCm39) missense probably benign 0.23
R5895:Golph3 UTSW 15 12,339,756 (GRCm39) missense probably damaging 1.00
R7527:Golph3 UTSW 15 12,343,404 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- TTTATTTAGGTGAGACGTGGAATCC -3'
(R):5'- CCAGAGAACTTCGTTGGTGTTG -3'

Sequencing Primer
(F):5'- GAGACGTGGAATCCATTAAAATTGC -3'
(R):5'- GGTGTTGGCCTTCAGACACTC -3'
Posted On 2014-10-30