Incidental Mutation 'IGL00402:Gopc'
ID 4725
Institutional Source Australian Phenomics Network (link to record)
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: 0.185) question?
Stock # IGL00402
Quality Score
Status
Chromosome 10
Chromosomal Location 52213120-52258220 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 52225326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 308 (K308E)
Ref Sequence ENSEMBL: ENSMUSP00000101115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020008] [ENSMUST00000105475] [ENSMUST00000217753] [ENSMUST00000217995]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000020008
AA Change: K300E

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000020008
Gene: ENSMUSG00000019861
AA Change: K300E

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 damaging
Transcript: ENSMUST00000105475
AA Change: K308E

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101115
Gene: ENSMUSG00000019861
AA Change: K308E

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 noncoding transcript
Transcript: ENSMUST00000217710
Predicted Effect probably damaging
Transcript: ENSMUST00000217753
AA Change: K248E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000217995
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220099
Coding Region Coverage
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,514,165 (GRCm39) L846H probably benign Het
Abca6 A T 11: 110,075,535 (GRCm39) L1319I probably damaging Het
Apob C T 12: 8,043,065 (GRCm39) probably benign Het
Atg16l2 A C 7: 100,945,360 (GRCm39) S268R probably benign Het
Atp1b3 T C 9: 96,215,756 (GRCm39) probably benign Het
Atxn7 T G 14: 14,096,324 (GRCm38) probably benign Het
Birc6 G A 17: 74,880,558 (GRCm39) probably benign Het
C4b G A 17: 34,953,402 (GRCm39) T1027I probably damaging Het
Caskin1 T C 17: 24,722,863 (GRCm39) I577T probably damaging Het
Cbx6 A G 15: 79,713,130 (GRCm39) V99A possibly damaging Het
Ccr9 A C 9: 123,609,109 (GRCm39) I252L probably benign Het
Cdh8 A T 8: 100,006,322 (GRCm39) D88E probably damaging Het
Cep135 T C 5: 76,749,306 (GRCm39) S258P probably damaging Het
Cep57l1 T G 10: 41,597,547 (GRCm39) probably benign Het
Cip2a T A 16: 48,822,178 (GRCm39) H234Q probably damaging Het
Col12a1 T C 9: 79,588,819 (GRCm39) T1099A possibly damaging Het
Col4a4 C T 1: 82,469,362 (GRCm39) G802D unknown Het
Ddx41 T C 13: 55,679,212 (GRCm39) T545A probably damaging Het
Disc1 A T 8: 125,815,014 (GRCm39) T293S probably benign Het
Fam13b A T 18: 34,587,771 (GRCm39) V509D probably damaging Het
Ffar4 C T 19: 38,095,837 (GRCm39) P192L probably benign Het
Fn1 C A 1: 71,680,322 (GRCm39) C461F probably damaging Het
Gm14226 G T 2: 154,867,078 (GRCm39) S345I probably damaging Het
Hapln2 A T 3: 87,931,641 (GRCm39) N28K possibly damaging Het
Hectd1 T C 12: 51,815,891 (GRCm39) S1394G possibly damaging Het
Hectd1 T C 12: 51,806,215 (GRCm39) H1807R probably benign Het
Ifnl2 A T 7: 28,208,290 (GRCm39) V193D possibly damaging Het
Il1rap T A 16: 26,541,151 (GRCm39) M464K possibly damaging Het
Krtap16-1 A T 11: 99,876,557 (GRCm39) C282* probably null Het
Ltv1 C T 10: 13,066,327 (GRCm39) V100I probably benign Het
Mcf2l T C 8: 13,050,857 (GRCm39) S308P probably damaging Het
Narf G A 11: 121,129,344 (GRCm39) probably null Het
Nmd3 T A 3: 69,652,573 (GRCm39) N386K possibly damaging Het
Noxo1 C T 17: 24,917,910 (GRCm39) probably benign Het
Or1e30 T A 11: 73,678,406 (GRCm39) I214N probably damaging Het
Ppic C T 18: 53,542,366 (GRCm39) G114D probably damaging Het
Ppp4r1 T C 17: 66,123,014 (GRCm39) S339P probably benign Het
Ptprg T A 14: 12,215,992 (GRCm38) L1147Q probably damaging Het
Qser1 A G 2: 104,617,326 (GRCm39) V1072A probably benign Het
Rad54l2 T A 9: 106,577,760 (GRCm39) M1054L probably benign Het
Scara5 A C 14: 65,975,864 (GRCm39) probably benign Het
Smtnl2 C T 11: 72,294,085 (GRCm39) probably benign Het
Spink8 A T 9: 109,648,287 (GRCm39) I25F probably benign Het
Vit G A 17: 78,909,336 (GRCm39) probably null Het
Vps13b A G 15: 35,926,372 (GRCm39) D3891G possibly damaging Het
Zfp207 T A 11: 80,283,911 (GRCm39) M277K probably benign Het
Zp2 T C 7: 119,732,623 (GRCm39) D641G probably benign Het
Other mutations in Gopc
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R8066:Gopc UTSW 10 52,230,812 (GRCm39) missense probably benign 0.03
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
Posted On 2012-04-20