Incidental Mutation 'R9728:Copg1'
ID 731155
Institutional Source Beutler Lab
Gene Symbol Copg1
Ensembl Gene ENSMUSG00000030058
Gene Name coatomer protein complex, subunit gamma 1
Synonyms D6Ertd71e, Copg, D6Wsu16e
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R9728 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 87864801-87890577 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87879225 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 424 (I424V)
Ref Sequence ENSEMBL: ENSMUSP00000109237 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113607]
AlphaFold Q9QZE5
Predicted Effect probably damaging
Transcript: ENSMUST00000113607
AA Change: I424V

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000109237
Gene: ENSMUSG00000030058
AA Change: I424V

DomainStartEndE-ValueType
Pfam:Adaptin_N 23 539 4.1e-135 PFAM
Pfam:COP-gamma_platf 611 759 7.6e-64 PFAM
Pfam:Coatomer_g_Cpla 761 873 1.5e-40 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI

All alleles(58) : Targeted, other(2) Gene trapped(56)

Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atr G A 9: 95,797,050 (GRCm39) A1698T probably benign Het
Caml T A 13: 55,779,670 (GRCm39) S248T possibly damaging Het
Cwh43 A T 5: 73,565,629 (GRCm39) N65Y possibly damaging Het
Defb1 A G 8: 22,284,486 (GRCm39) Y35C probably damaging Het
Disc1 A T 8: 125,959,795 (GRCm39) E769V probably null Het
Egln1 G A 8: 125,675,093 (GRCm39) T234I possibly damaging Het
Esco2 A T 14: 66,069,069 (GRCm39) F80L probably benign Het
Frem2 C T 3: 53,564,052 (GRCm39) A152T probably benign Het
Gcc1 T C 6: 28,420,544 (GRCm39) R258G probably damaging Het
Gm19410 A G 8: 36,247,594 (GRCm39) T469A possibly damaging Het
Gm4884 A T 7: 40,692,689 (GRCm39) Q219H probably benign Het
Gpr160 A G 3: 30,950,144 (GRCm39) N72S probably damaging Het
Hps3 C A 3: 20,065,128 (GRCm39) A771S probably benign Het
Igkv12-46 G T 6: 69,741,967 (GRCm39) P4T possibly damaging Het
Iqcf5 A T 9: 106,393,168 (GRCm39) I142L probably damaging Het
Kcna10 A T 3: 107,101,513 (GRCm39) N48I possibly damaging Het
Klhdc9 A G 1: 171,187,357 (GRCm39) S214P probably damaging Het
Knop1 C T 7: 118,451,840 (GRCm39) S293N Het
Lgr6 A G 1: 134,915,245 (GRCm39) L778P probably damaging Het
Lrrk2 A G 15: 91,618,228 (GRCm39) N909S probably benign Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Mei1 G A 15: 81,966,098 (GRCm39) G240D Het
Miox A T 15: 89,218,703 (GRCm39) probably benign Het
Myo1e A G 9: 70,223,924 (GRCm39) Y128C probably damaging Het
Nlrp9a T A 7: 26,256,915 (GRCm39) Y178N probably damaging Het
Or14a259 A G 7: 86,012,771 (GRCm39) L258P probably damaging Het
Or5m13 A G 2: 85,748,887 (GRCm39) N206S possibly damaging Het
Or8u8 A T 2: 86,011,636 (GRCm39) M273K possibly damaging Het
Pde11a C A 2: 76,121,608 (GRCm39) L324F probably damaging Het
Pprc1 T C 19: 46,060,639 (GRCm39) V1568A probably damaging Het
Ralgps1 C T 2: 33,163,626 (GRCm39) V144M probably damaging Het
Rgs22 A T 15: 36,040,856 (GRCm39) V1001E probably benign Het
Sapcd2 C A 2: 25,262,669 (GRCm39) A76D probably damaging Het
Sec24b A G 3: 129,790,422 (GRCm39) I701T probably damaging Het
Sema4a T C 3: 88,348,187 (GRCm39) probably null Het
Setd5 G T 6: 113,128,366 (GRCm39) V1440L probably benign Het
Sik3 A G 9: 46,106,142 (GRCm39) K337E possibly damaging Het
Slc14a1 C A 18: 78,152,807 (GRCm39) A367S probably damaging Het
Slc23a2 G T 2: 131,900,130 (GRCm39) N568K probably damaging Het
Spag16 A G 1: 69,962,842 (GRCm39) R330G probably benign Het
Sspo G A 6: 48,432,707 (GRCm39) G861D probably damaging Het
Sun5 T A 2: 153,709,466 (GRCm39) M75L probably benign Het
Syde1 AGCCCGAAAACACGGGGCTCTGC AGC 10: 78,424,638 (GRCm39) probably null Het
Synrg A G 11: 83,915,117 (GRCm39) Y963C probably damaging Het
Tdpoz6 A T 3: 93,599,807 (GRCm39) C187* probably null Het
Trbv15 A T 6: 41,118,550 (GRCm39) E102V possibly damaging Het
Trim43b G T 9: 88,973,395 (GRCm39) H113N probably benign Het
Trrap G T 5: 144,726,193 (GRCm39) D381Y probably benign Het
Tubb6 A G 18: 67,534,671 (GRCm39) H190R probably benign Het
Unc45a G T 7: 79,978,448 (GRCm39) L667I probably benign Het
Vav1 A G 17: 57,612,459 (GRCm39) D570G probably benign Het
Vmn1r214 T C 13: 23,219,007 (GRCm39) V167A probably benign Het
Vmn2r112 G A 17: 22,824,108 (GRCm39) M454I probably damaging Het
Vwf C A 6: 125,568,670 (GRCm39) L398I possibly damaging Het
Zfp13 C T 17: 23,799,788 (GRCm39) R107K possibly damaging Het
Zfp318 G A 17: 46,707,713 (GRCm39) R257Q probably benign Het
Zfp9 G T 6: 118,443,851 (GRCm39) A58E probably benign Het
Other mutations in Copg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00662:Copg1 APN 6 87,879,352 (GRCm39) missense possibly damaging 0.94
IGL00816:Copg1 APN 6 87,870,880 (GRCm39) missense possibly damaging 0.95
IGL02087:Copg1 APN 6 87,879,192 (GRCm39) missense possibly damaging 0.68
R0194:Copg1 UTSW 6 87,881,179 (GRCm39) splice site probably benign
R0448:Copg1 UTSW 6 87,881,908 (GRCm39) missense probably benign
R0576:Copg1 UTSW 6 87,874,945 (GRCm39) missense probably damaging 1.00
R0701:Copg1 UTSW 6 87,871,089 (GRCm39) nonsense probably null
R1251:Copg1 UTSW 6 87,866,989 (GRCm39) nonsense probably null
R1707:Copg1 UTSW 6 87,882,192 (GRCm39) missense probably benign
R1845:Copg1 UTSW 6 87,870,800 (GRCm39) missense probably damaging 1.00
R3500:Copg1 UTSW 6 87,872,905 (GRCm39) splice site probably benign
R3952:Copg1 UTSW 6 87,882,198 (GRCm39) missense probably benign
R4283:Copg1 UTSW 6 87,885,527 (GRCm39) missense probably damaging 1.00
R4515:Copg1 UTSW 6 87,884,528 (GRCm39) intron probably benign
R4715:Copg1 UTSW 6 87,889,268 (GRCm39) nonsense probably null
R4797:Copg1 UTSW 6 87,880,450 (GRCm39) intron probably benign
R4864:Copg1 UTSW 6 87,866,678 (GRCm39) missense probably damaging 1.00
R4947:Copg1 UTSW 6 87,880,455 (GRCm39) splice site probably benign
R5265:Copg1 UTSW 6 87,869,252 (GRCm39) missense probably damaging 0.98
R5288:Copg1 UTSW 6 87,867,189 (GRCm39) missense possibly damaging 0.90
R5386:Copg1 UTSW 6 87,867,189 (GRCm39) missense possibly damaging 0.90
R5511:Copg1 UTSW 6 87,889,276 (GRCm39) missense probably damaging 0.99
R5670:Copg1 UTSW 6 87,889,217 (GRCm39) missense probably damaging 1.00
R5887:Copg1 UTSW 6 87,879,279 (GRCm39) missense probably damaging 1.00
R7014:Copg1 UTSW 6 87,879,322 (GRCm39) missense probably damaging 1.00
R7021:Copg1 UTSW 6 87,871,087 (GRCm39) missense possibly damaging 0.94
R7380:Copg1 UTSW 6 87,870,824 (GRCm39) missense probably damaging 0.98
R7392:Copg1 UTSW 6 87,867,257 (GRCm39) missense probably benign 0.01
R7629:Copg1 UTSW 6 87,871,151 (GRCm39) missense possibly damaging 0.90
R7704:Copg1 UTSW 6 87,884,940 (GRCm39) missense probably benign 0.13
R8060:Copg1 UTSW 6 87,886,703 (GRCm39) missense probably damaging 0.96
R8184:Copg1 UTSW 6 87,866,996 (GRCm39) missense probably damaging 1.00
R8683:Copg1 UTSW 6 87,869,637 (GRCm39) missense probably damaging 1.00
R9320:Copg1 UTSW 6 87,887,072 (GRCm39) missense possibly damaging 0.65
R9433:Copg1 UTSW 6 87,880,478 (GRCm39) missense possibly damaging 0.95
R9564:Copg1 UTSW 6 87,869,683 (GRCm39) missense probably damaging 0.97
R9660:Copg1 UTSW 6 87,879,225 (GRCm39) missense probably damaging 0.96
R9709:Copg1 UTSW 6 87,868,957 (GRCm39) missense probably benign 0.22
Predicted Primers PCR Primer
(F):5'- GAACCAAGGCTTCTGCTTCC -3'
(R):5'- CTGGGCAAATTCACTGCAAAAG -3'

Sequencing Primer
(F):5'- AAGGCTTCTGCTTCCAGGCTG -3'
(R):5'- GCTCAGATATACCTGCCCG -3'
Posted On 2022-10-06