Incidental Mutation 'R5936:Gopc'
ID462270
Institutional Source Beutler Lab
Gene Symbol Gopc
Ensembl Gene ENSMUSG00000019861
Gene Namegolgi associated PDZ and coiled-coil motif containing
Synonyms2210402P09Rik, GOPC1
MMRRC Submission 044130-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.577) question?
Stock #R5936 (G1)
Quality Score225
Status Validated
Chromosome10
Chromosomal Location52335850-52382124 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 52346199 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 30 (V30M)
Ref Sequence ENSEMBL: ENSMUSP00000151595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020008] [ENSMUST00000105475] [ENSMUST00000217753] [ENSMUST00000217995]
Predicted Effect probably damaging
Transcript: ENSMUST00000020008
AA Change: V363M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020008
Gene: ENSMUSG00000019861
AA Change: V363M

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: V371M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101115
Gene: ENSMUSG00000019861
AA Change: V371M

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: V311M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217995
AA Change: V30M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218299
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220099
Meta Mutation Damage Score 0.2003 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.0%
Validation Efficiency 91% (77/85)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A T 2: 68,615,504 probably benign Het
Acnat2 T C 4: 49,383,362 T64A probably benign Het
Afap1 A G 5: 35,974,396 N356D possibly damaging Het
Ahi1 A G 10: 20,965,933 D301G probably damaging Het
Alpk2 G A 18: 65,350,520 T139M probably damaging Het
Ankrd46 T C 15: 36,479,282 D221G probably benign Het
Ano6 T A 15: 95,972,601 L900H probably damaging Het
Asphd2 G A 5: 112,385,757 R343* probably null Het
BC055324 T G 1: 163,987,012 I121L probably benign Het
Brdt A G 5: 107,359,395 T554A probably damaging Het
Cacna1d A G 14: 30,171,314 V401A possibly damaging Het
Cbs T C 17: 31,625,094 T188A probably damaging Het
Cfap54 T A 10: 92,962,412 T1662S probably benign Het
Chka A G 19: 3,884,580 I205V probably benign Het
Chsy1 T A 7: 66,172,277 N753K possibly damaging Het
Cpz A G 5: 35,502,643 S553P probably benign Het
Crtac1 A G 19: 42,323,837 Y146H probably damaging Het
Csf1r A T 18: 61,125,808 I700F probably damaging Het
Ddx20 C A 3: 105,680,587 E392D possibly damaging Het
Dhrs11 G T 11: 84,825,524 Y67* probably null Het
Diaph3 G T 14: 86,772,116 Q1076K possibly damaging Het
Dopey1 T A 9: 86,536,512 L2037* probably null Het
Dst G T 1: 34,307,458 V5336L probably damaging Het
Etv1 C A 12: 38,835,210 H248Q probably damaging Het
Fam214a T C 9: 75,009,304 L395P probably benign Het
Fcgbp T C 7: 28,086,692 V518A probably damaging Het
Fchsd2 T C 7: 101,191,701 L139S probably damaging Het
Fer A T 17: 63,924,063 T270S probably benign Het
Fgd5 A G 6: 91,987,911 E375G probably damaging Het
Gabarapl1 T A 6: 129,538,603 I68N probably benign Het
Hbp1 T C 12: 31,937,096 probably null Het
Helz2 A G 2: 181,230,767 V2480A probably damaging Het
Igfbp3 T A 11: 7,209,472 Y247F probably damaging Het
Kbtbd11 C A 8: 15,027,534 S44R probably benign Het
Kcnk10 G T 12: 98,489,932 S213R probably benign Het
Kcnq3 T A 15: 66,000,110 D570V probably damaging Het
Kif21a A G 15: 90,935,647 F1594S possibly damaging Het
Klf3 A G 5: 64,822,960 D31G probably damaging Het
Mapkapk3 T C 9: 107,289,170 K59E probably damaging Het
Myo18a A G 11: 77,818,213 T484A probably damaging Het
Nlrp6 T A 7: 140,922,812 L277* probably null Het
Nr5a1 G T 2: 38,701,778 probably benign Het
Nsmaf C T 4: 6,421,017 probably benign Het
Olfr1311 T A 2: 112,021,587 H89L probably benign Het
Orc1 A G 4: 108,601,983 T450A probably benign Het
Pacsin1 A T 17: 27,704,997 I122F probably benign Het
Pced1b T A 15: 97,385,180 Y367N possibly damaging Het
Pced1b T A 15: 97,385,182 Y367* probably null Het
Pdpk1 A G 17: 24,093,229 F281L probably damaging Het
Piwil1 T C 5: 128,751,078 V714A probably benign Het
Plcd3 C T 11: 103,078,347 V265M probably damaging Het
Ppp1r1c A T 2: 79,756,454 E48V possibly damaging Het
Prl2b1 T G 13: 27,388,449 T53P probably damaging Het
Ptch2 T G 4: 117,108,294 F359V probably benign Het
R3hdm2 G A 10: 127,471,812 S314N probably damaging Het
Rictor A T 15: 6,784,161 S1043C probably damaging Het
Rtn4rl2 A T 2: 84,880,431 L163Q probably damaging Het
Sarnp T A 10: 128,848,771 S129T probably benign Het
Scube3 A T 17: 28,165,487 K585M probably damaging Het
Sgk3 C T 1: 9,885,820 probably benign Het
Skint6 C T 4: 113,096,593 S458N probably benign Het
Slc25a54 A G 3: 109,098,638 H154R possibly damaging Het
Sorbs1 A C 19: 40,324,772 I690S probably damaging Het
Sqle C A 15: 59,330,829 A512D probably damaging Het
Tedc2 A C 17: 24,216,341 L358R probably damaging Het
Tfr2 A G 5: 137,587,006 S767G probably benign Het
Thoc5 A G 11: 4,904,133 E27G probably damaging Het
Trappc8 A T 18: 20,874,688 F123L probably damaging Het
Ube2cbp C T 9: 86,372,459 G323D probably benign Het
Unc13c T A 9: 73,578,492 H1642L probably damaging Het
Vmn1r10 A T 6: 57,114,317 H298L probably benign Het
Xpo4 A T 14: 57,643,499 Y26N probably benign Het
Zer1 A G 2: 30,107,667 L409P probably damaging Het
Zfyve28 A T 5: 34,224,988 L256Q probably damaging Het
Zgrf1 A G 3: 127,562,253 E376G possibly damaging Het
Other mutations in Gopc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Gopc APN 10 52349230 missense probably damaging 0.98
IGL01146:Gopc APN 10 52358867 missense probably benign 0.31
Forgetful UTSW 10 52349143 missense probably damaging 1.00
Non_compos UTSW 10 52349232 missense probably damaging 1.00
R0281:Gopc UTSW 10 52350678 missense probably damaging 0.98
R0798:Gopc UTSW 10 52358811 missense probably damaging 0.97
R2238:Gopc UTSW 10 52353403 missense probably damaging 1.00
R2255:Gopc UTSW 10 52349085 missense probably damaging 0.99
R2507:Gopc UTSW 10 52353326 critical splice donor site probably null
R4153:Gopc UTSW 10 52349143 missense probably damaging 1.00
R5484:Gopc UTSW 10 52358846 missense probably damaging 1.00
R7385:Gopc UTSW 10 52349232 missense probably damaging 1.00
R7806:Gopc UTSW 10 52353429 missense probably damaging 0.98
R7844:Gopc UTSW 10 52339749 missense possibly damaging 0.60
R7927:Gopc UTSW 10 52339749 missense possibly damaging 0.60
R8066:Gopc UTSW 10 52354716 missense probably benign 0.03
X0019:Gopc UTSW 10 52339741 missense probably benign 0.43
Z1177:Gopc UTSW 10 52350663 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTTACTGAAGAACACTGAGGC -3'
(R):5'- CCCCTCATAGAGAAGATCCAGG -3'

Sequencing Primer
(F):5'- AAGTTCAAGGCCATCCTGG -3'
(R):5'- AGTGGTCTGGCTGTCACAG -3'
Posted On2017-02-28