Incidental Mutation 'R8066:Gopc'
ID 620013
Institutional Source Beutler Lab
Gene Symbol Gopc
Ensembl Gene ENSMUSG00000019861
Gene Name golgi associated PDZ and coiled-coil motif containing
Synonyms GOPC1, 2210402P09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.204) question?
Stock # R8066 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 52213120-52258220 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 52230812 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 162 (K162R)
Ref Sequence ENSEMBL: ENSMUSP00000020008 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020008] [ENSMUST00000105475] [ENSMUST00000180473] [ENSMUST00000217753]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000020008
AA Change: K162R

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000020008
Gene: ENSMUSG00000019861
AA Change: K162R

DomainStartEndE-ValueType
low complexity region 2 30 N/A INTRINSIC
coiled coil region 85 125 N/A INTRINSIC
Blast:PDZ 192 232 5e-10 BLAST
PDZ 290 364 5.41e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105475
AA Change: K170R

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000101115
Gene: ENSMUSG00000019861
AA Change: K170R

DomainStartEndE-ValueType
low complexity region 2 30 N/A INTRINSIC
coiled coil region 85 125 N/A INTRINSIC
low complexity region 155 165 N/A INTRINSIC
Blast:PDZ 200 240 5e-10 BLAST
PDZ 298 372 5.41e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000180473
Predicted Effect probably benign
Transcript: ENSMUST00000217753
AA Change: K110R

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Golgi protein with a PDZ domain. The PDZ domain is globular and proteins which contain them bind other proteins through short motifs near the C-termini. Mice which are deficient in the orthologous protein have globozoospermia and are infertile. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a null allele show male sterility with globozoospermia characterized by a complete lack of acrosomes due to failure of vesicle transport from the Golgi apparatus, a malformed sperm nucleus, and abnormal mitochondrial arrangement in the mitochondrial sheath of mutant spermatozoa. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 A G 11: 69,780,689 (GRCm39) V177A probably benign Het
Acsm2 C A 7: 119,190,548 (GRCm39) T517K probably damaging Het
Adam29 T G 8: 56,325,703 (GRCm39) L250F probably benign Het
Ankrd37 T C 8: 46,450,726 (GRCm39) D135G probably benign Het
Armh4 T C 14: 50,005,980 (GRCm39) T572A possibly damaging Het
Aspa T C 11: 73,204,372 (GRCm39) K199E possibly damaging Het
Aurka A T 2: 172,212,338 (GRCm39) I13K probably benign Het
Bag6 A G 17: 35,361,283 (GRCm39) D446G unknown Het
Bcar3 A T 3: 122,318,573 (GRCm39) I654F probably damaging Het
Ccdc188 A T 16: 18,037,058 (GRCm39) N210Y probably damaging Het
Ccdc25 A T 14: 66,083,751 (GRCm39) D28V possibly damaging Het
Ccn5 G T 2: 163,670,862 (GRCm39) C123F probably damaging Het
Cdc37 C T 9: 21,054,437 (GRCm39) E63K probably benign Het
Chrm4 T A 2: 91,758,042 (GRCm39) L150H probably damaging Het
Col5a2 A T 1: 45,452,628 (GRCm39) probably null Het
Ctr9 T A 7: 110,633,104 (GRCm39) Y117* probably null Het
Cyp4f37 C A 17: 32,854,047 (GRCm39) R499S probably benign Het
Egr4 T C 6: 85,489,277 (GRCm39) Y261C probably damaging Het
Fanca A T 8: 124,030,679 (GRCm39) C468S unknown Het
Gart T C 16: 91,436,335 (GRCm39) N141D probably benign Het
Get4 G A 5: 139,249,293 (GRCm39) V126M probably damaging Het
Gja3 T C 14: 57,273,263 (GRCm39) S370G probably benign Het
Grpel1 A G 5: 36,626,889 (GRCm39) D57G probably benign Het
Hmmr G A 11: 40,612,499 (GRCm39) S206F probably damaging Het
Kcnma1 A G 14: 23,361,744 (GRCm39) L1149P probably benign Het
Lmbrd2 G A 15: 9,172,172 (GRCm39) R322Q probably benign Het
Lrrc59 T C 11: 94,525,426 (GRCm39) L74P possibly damaging Het
Mcam G T 9: 44,052,257 (GRCm39) K589N probably damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Nadk G T 4: 155,661,524 (GRCm39) D17Y probably benign Het
Nrap A T 19: 56,342,562 (GRCm39) L813Q possibly damaging Het
Oga T C 19: 45,760,291 (GRCm39) K289R probably damaging Het
Or10h1 T C 17: 33,418,126 (GRCm39) F35L probably benign Het
Or14a260 A T 7: 85,985,014 (GRCm39) C197S probably benign Het
Or52b1 C T 7: 104,978,761 (GRCm39) V213I possibly damaging Het
Pcdhga8 A T 18: 37,859,435 (GRCm39) I164L probably benign Het
Pck2 C A 14: 55,781,858 (GRCm39) P251H probably benign Het
Phip A T 9: 82,757,351 (GRCm39) I1607K probably benign Het
Piwil2 T C 14: 70,658,168 (GRCm39) T220A probably benign Het
Plch1 G A 3: 63,618,478 (GRCm39) Q686* probably null Het
Pnpla2 A G 7: 141,039,581 (GRCm39) *487W probably null Het
Prdm14 C A 1: 13,184,540 (GRCm39) G544C probably benign Het
Psg22 A G 7: 18,452,218 (GRCm39) E45G possibly damaging Het
Psmb5 T C 14: 54,851,698 (GRCm39) D249G probably benign Het
Pstpip1 A G 9: 56,033,913 (GRCm39) I296V probably benign Het
S1pr3 T A 13: 51,573,955 (GRCm39) *379R probably null Het
Smc3 G A 19: 53,603,576 (GRCm39) R57H probably damaging Het
Spata31g1 C A 4: 42,971,929 (GRCm39) Q421K possibly damaging Het
Srcap T A 7: 127,139,484 (GRCm39) H1268Q possibly damaging Het
Srcap C T 7: 127,120,804 (GRCm39) R155C probably damaging Het
Srgap3 A G 6: 112,748,339 (GRCm39) F438L probably damaging Het
Svep1 A G 4: 58,113,650 (GRCm39) V999A probably benign Het
Tchp T A 5: 114,847,472 (GRCm39) L97Q probably benign Het
Tex46 G A 4: 136,340,265 (GRCm39) V117M probably benign Het
Tnnc2 T A 2: 164,619,661 (GRCm39) I102F possibly damaging Het
Trbv5 T A 6: 41,039,326 (GRCm39) C12S probably damaging Het
Trub2 T A 2: 29,667,867 (GRCm39) T258S possibly damaging Het
Uba3 T A 6: 97,178,882 (GRCm39) N87I probably damaging Het
Vmn1r160 A T 7: 22,571,315 (GRCm39) I223F probably damaging Het
Vmn1r192 G T 13: 22,371,565 (GRCm39) Y218* probably null Het
Vmn1r8 A G 6: 57,013,419 (GRCm39) M157V probably benign Het
Vps53 T C 11: 76,027,133 (GRCm39) E127G probably damaging Het
Vsig10 G T 5: 117,489,849 (GRCm39) E538D probably benign Het
Zfp647 A T 15: 76,796,095 (GRCm39) H188Q probably damaging Het
Other mutations in Gopc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Gopc APN 10 52,225,326 (GRCm39) missense probably damaging 0.98
IGL01146:Gopc APN 10 52,234,963 (GRCm39) missense probably benign 0.31
Forgetful UTSW 10 52,225,239 (GRCm39) missense probably damaging 1.00
Non_compos UTSW 10 52,225,328 (GRCm39) missense probably damaging 1.00
R0281:Gopc UTSW 10 52,226,774 (GRCm39) missense probably damaging 0.98
R0798:Gopc UTSW 10 52,234,907 (GRCm39) missense probably damaging 0.97
R2238:Gopc UTSW 10 52,229,499 (GRCm39) missense probably damaging 1.00
R2255:Gopc UTSW 10 52,225,181 (GRCm39) missense probably damaging 0.99
R2507:Gopc UTSW 10 52,229,422 (GRCm39) critical splice donor site probably null
R4153:Gopc UTSW 10 52,225,239 (GRCm39) missense probably damaging 1.00
R5484:Gopc UTSW 10 52,234,942 (GRCm39) missense probably damaging 1.00
R5936:Gopc UTSW 10 52,222,295 (GRCm39) missense probably damaging 1.00
R7385:Gopc UTSW 10 52,225,328 (GRCm39) missense probably damaging 1.00
R7806:Gopc UTSW 10 52,229,525 (GRCm39) missense probably damaging 0.98
R7844:Gopc UTSW 10 52,215,845 (GRCm39) missense possibly damaging 0.60
R8558:Gopc UTSW 10 52,229,580 (GRCm39) missense probably damaging 1.00
R8786:Gopc UTSW 10 52,230,750 (GRCm39) nonsense probably null
R9736:Gopc UTSW 10 52,229,558 (GRCm39) missense possibly damaging 0.85
X0019:Gopc UTSW 10 52,215,837 (GRCm39) missense probably benign 0.43
Z1177:Gopc UTSW 10 52,226,759 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAGTCAAGCAGAGCCATTTTAC -3'
(R):5'- GAAGGTCTGAGACATTGTTTTCC -3'

Sequencing Primer
(F):5'- GCAGAGCCATTTTACACACCTG -3'
(R):5'- AAGGGACCCAATCTGTTCTCTGG -3'
Posted On 2020-01-23