Incidental Mutation 'R4640:Copz2'
ID 351618
Institutional Source Beutler Lab
Gene Symbol Copz2
Ensembl Gene ENSMUSG00000018672
Gene Name coatomer protein complex, subunit zeta 2
Synonyms zeta2-COP, 1110012D12Rik, nonclathrin coat protein zeta2-COP
MMRRC Submission 041902-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R4640 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 96740702-96752029 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 96747533 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 172 (Q172L)
Ref Sequence ENSEMBL: ENSMUSP00000018816 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018816] [ENSMUST00000145633]
AlphaFold Q9JHH9
Predicted Effect possibly damaging
Transcript: ENSMUST00000018816
AA Change: Q172L

PolyPhen 2 Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000018816
Gene: ENSMUSG00000018672
AA Change: Q172L

DomainStartEndE-ValueType
low complexity region 12 30 N/A INTRINSIC
Pfam:Clat_adaptor_s 40 181 7.3e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145633
SMART Domains Protein: ENSMUSP00000119593
Gene: ENSMUSG00000018672

DomainStartEndE-ValueType
low complexity region 12 30 N/A INTRINSIC
SCOP:d1gw5m2 41 57 6e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000147710
SMART Domains Protein: ENSMUSP00000118356
Gene: ENSMUSG00000018672

DomainStartEndE-ValueType
SCOP:d1gw5m2 2 25 1e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154191
Meta Mutation Damage Score 0.1130 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 93% (39/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the adaptor complexes small subunit family. The encoded protein is a subunit of the coatomer protein complex, a seven-subunit complex that functions in the formation of COPI-type, non-clathrin-coated vesicles. COPI vesicles function in the retrograde Golgi-to-ER transport of dilysine-tagged proteins. [provided by RefSeq, Feb 2014]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Adgrl4 T C 3: 151,205,947 (GRCm39) probably benign Het
Ano4 C T 10: 88,790,559 (GRCm39) A847T probably damaging Het
Atp11a A G 8: 12,878,434 (GRCm39) probably benign Het
Cct4 T A 11: 22,952,297 (GRCm39) S463T probably benign Het
Cfap251 G T 5: 123,440,495 (GRCm39) V1094L probably benign Het
Cnmd T C 14: 79,894,093 (GRCm39) N98S probably damaging Het
Ctdp1 C A 18: 80,494,369 (GRCm39) probably null Het
Cyfip1 C T 7: 55,563,199 (GRCm39) T865I possibly damaging Het
Cyp2c37 A T 19: 40,000,276 (GRCm39) D466V possibly damaging Het
Dytn A G 1: 63,682,507 (GRCm39) L380P possibly damaging Het
Fam124b G A 1: 80,191,243 (GRCm39) R47C probably damaging Het
Foxe3 G A 4: 114,782,972 (GRCm39) A80V probably damaging Het
Gm5884 A G 6: 128,622,734 (GRCm39) noncoding transcript Het
Kera A T 10: 97,448,749 (GRCm39) Y323F probably damaging Het
Lipf A T 19: 33,946,197 (GRCm39) Y205F probably damaging Het
Lipo2 T C 19: 33,698,237 (GRCm39) E380G probably benign Het
Mcm2 A T 6: 88,864,786 (GRCm39) H563Q possibly damaging Het
Mindy3 T C 2: 12,352,974 (GRCm39) E409G probably benign Het
Mns1 A G 9: 72,346,564 (GRCm39) K16E probably benign Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Nlrp4g T C 9: 124,349,153 (GRCm38) noncoding transcript Het
Nrxn1 A G 17: 90,868,196 (GRCm39) S1105P probably damaging Het
Odf2l G A 3: 144,834,706 (GRCm39) R186H probably damaging Het
Or13g1 T A 7: 85,956,274 (GRCm39) T16S probably benign Het
Or2d3c T C 7: 106,525,800 (GRCm39) I289V possibly damaging Het
Phxr2 T C 10: 98,961,931 (GRCm39) probably benign Het
Plcxd3 T C 15: 4,546,725 (GRCm39) F243S probably damaging Het
Ppp1r27 T C 11: 120,441,553 (GRCm39) N76D possibly damaging Het
Ptprz1 A G 6: 22,972,797 (GRCm39) T236A probably damaging Het
Pyroxd1 C G 6: 142,300,467 (GRCm39) S199* probably null Het
R3hdm1 T C 1: 128,102,975 (GRCm39) probably benign Het
Sall2 T A 14: 52,552,616 (GRCm39) Q193L probably damaging Het
Srpk1 T C 17: 28,827,698 (GRCm39) S39G probably benign Het
Tcaf3 A G 6: 42,564,513 (GRCm39) V883A probably damaging Het
Tmem104 T A 11: 115,134,550 (GRCm39) V362E probably damaging Het
Other mutations in Copz2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02597:Copz2 APN 11 96,748,425 (GRCm39) splice site probably benign
IGL02644:Copz2 APN 11 96,744,257 (GRCm39) unclassified probably benign
R1727:Copz2 UTSW 11 96,744,301 (GRCm39) missense probably benign
R4983:Copz2 UTSW 11 96,748,377 (GRCm39) critical splice acceptor site probably null
R7080:Copz2 UTSW 11 96,747,538 (GRCm39) missense probably benign 0.00
R8443:Copz2 UTSW 11 96,744,887 (GRCm39) missense probably damaging 1.00
R8517:Copz2 UTSW 11 96,744,309 (GRCm39) missense possibly damaging 0.50
R9104:Copz2 UTSW 11 96,747,514 (GRCm39) missense possibly damaging 0.95
R9257:Copz2 UTSW 11 96,748,386 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- GACAGATGTGACCTCAGGAC -3'
(R):5'- GTCCATCCAAGCCTCTCACTAG -3'

Sequencing Primer
(F):5'- GATGTGACCTCAGGACCATCTATG -3'
(R):5'- CTCTCACTAGAGGATGAGAAGGG -3'
Posted On 2015-10-08