Incidental Mutation 'R0581:Ccer2'
ID 56422
Institutional Source Beutler Lab
Gene Symbol Ccer2
Ensembl Gene ENSMUSG00000096257
Gene Name coiled-coil glutamate-rich protein 2
Synonyms Gm6537
MMRRC Submission 038771-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R0581 (G1)
Quality Score 206
Status Validated
Chromosome 7
Chromosomal Location 28455599-28458393 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 28456451 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032815] [ENSMUST00000085851] [ENSMUST00000094632] [ENSMUST00000137121] [ENSMUST00000178767]
AlphaFold J3QPU5
Predicted Effect probably benign
Transcript: ENSMUST00000032815
SMART Domains Protein: ENSMUSP00000032815
Gene: ENSMUSG00000030595

DomainStartEndE-ValueType
low complexity region 19 45 N/A INTRINSIC
ANK 57 86 4.13e-2 SMART
ANK 93 122 1.6e1 SMART
ANK 126 155 5.98e1 SMART
low complexity region 183 191 N/A INTRINSIC
ANK 206 235 5.12e-7 SMART
ANK 240 269 1.76e-5 SMART
ANK 273 303 1.37e2 SMART
low complexity region 305 327 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000085851
SMART Domains Protein: ENSMUSP00000083012
Gene: ENSMUSG00000030595

DomainStartEndE-ValueType
low complexity region 19 45 N/A INTRINSIC
ANK 57 86 4.13e-2 SMART
ANK 93 122 1.6e1 SMART
ANK 126 155 5.98e1 SMART
low complexity region 183 191 N/A INTRINSIC
ANK 206 235 5.12e-7 SMART
ANK 240 269 1.76e-5 SMART
ANK 273 303 1.37e2 SMART
low complexity region 305 327 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000094632
SMART Domains Protein: ENSMUSP00000092216
Gene: ENSMUSG00000070699

DomainStartEndE-ValueType
Pfam:Seryl_tRNA_N 58 174 3.8e-8 PFAM
Pfam:tRNA-synt_2b 284 468 5.2e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137121
SMART Domains Protein: ENSMUSP00000117769
Gene: ENSMUSG00000030595

DomainStartEndE-ValueType
low complexity region 19 45 N/A INTRINSIC
ANK 57 86 4.13e-2 SMART
ANK 93 122 1.6e1 SMART
ANK 126 151 2.15e3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000178767
SMART Domains Protein: ENSMUSP00000137487
Gene: ENSMUSG00000096257

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 105 117 N/A INTRINSIC
coiled coil region 129 151 N/A INTRINSIC
low complexity region 206 215 N/A INTRINSIC
coiled coil region 228 270 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.3%
  • 20x: 93.7%
Validation Efficiency 95% (42/44)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 A G 5: 4,100,620 (GRCm39) T2761A probably benign Het
Apold1 G A 6: 134,960,776 (GRCm39) V77I probably benign Het
Atad2 T C 15: 57,990,060 (GRCm39) T139A probably benign Het
Cacna1a A T 8: 85,328,565 (GRCm39) I1668F possibly damaging Het
Cyp2c54 T A 19: 40,035,999 (GRCm39) T304S probably benign Het
Dpp4 T A 2: 62,187,020 (GRCm39) M497L probably benign Het
Evpl T A 11: 116,120,316 (GRCm39) I541L probably benign Het
Ggn A G 7: 28,871,729 (GRCm39) T370A probably benign Het
Ghr A G 15: 3,418,116 (GRCm39) probably benign Het
Gm6605 C A 7: 38,147,699 (GRCm39) noncoding transcript Het
Gpr68 G C 12: 100,844,815 (GRCm39) P243R probably damaging Het
Gtf3c2 G T 5: 31,316,862 (GRCm39) Y720* probably null Het
Il2rb T A 15: 78,366,136 (GRCm39) Y387F possibly damaging Het
Kcnu1 T A 8: 26,427,529 (GRCm39) V282E probably damaging Het
Krt222 G A 11: 99,127,018 (GRCm39) Q201* probably null Het
Lats1 A G 10: 7,578,705 (GRCm39) T610A possibly damaging Het
Mroh2a GT GTT 1: 88,183,888 (GRCm39) probably null Het
Myh7 T C 14: 55,222,953 (GRCm39) I751V probably benign Het
Mypn A G 10: 62,998,023 (GRCm39) I429T probably benign Het
Nemf A T 12: 69,369,045 (GRCm39) D723E probably benign Het
Nlrp4b T C 7: 10,448,457 (GRCm39) L220P probably damaging Het
Npr3 T A 15: 11,851,536 (GRCm39) D418V probably damaging Het
Nsd3 A G 8: 26,200,718 (GRCm39) N1270S probably damaging Het
Or1j15 T C 2: 36,458,834 (GRCm39) S75P probably damaging Het
Or2g1 A G 17: 38,106,993 (GRCm39) I219M probably damaging Het
Otogl G A 10: 107,624,901 (GRCm39) T1579I possibly damaging Het
Pkp2 T A 16: 16,087,647 (GRCm39) probably benign Het
Psd3 T C 8: 68,173,598 (GRCm39) Y301C probably damaging Het
Psmb4 T C 3: 94,793,479 (GRCm39) H134R probably damaging Het
Ralgapb A G 2: 158,334,881 (GRCm39) T1043A probably benign Het
Sec14l5 T A 16: 4,996,349 (GRCm39) probably null Het
Serpina12 T A 12: 103,997,399 (GRCm39) Q374L probably damaging Het
Serpinb10 C T 1: 107,474,692 (GRCm39) R362* probably null Het
Sorcs1 T A 19: 50,241,139 (GRCm39) I416F possibly damaging Het
Sparcl1 T C 5: 104,241,178 (GRCm39) D82G probably damaging Het
Stat6 A T 10: 127,483,985 (GRCm39) Q89L probably damaging Het
Tat A G 8: 110,718,270 (GRCm39) T52A possibly damaging Het
Yipf7 T A 5: 69,678,406 (GRCm39) I128F probably benign Het
Zfp112 T A 7: 23,825,288 (GRCm39) C419S probably damaging Het
Zzef1 A G 11: 72,742,726 (GRCm39) I769V probably benign Het
Other mutations in Ccer2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1535:Ccer2 UTSW 7 28,456,822 (GRCm39) nonsense probably null
R1987:Ccer2 UTSW 7 28,456,708 (GRCm39) missense possibly damaging 0.83
R4664:Ccer2 UTSW 7 28,455,928 (GRCm39) missense probably benign 0.36
R5690:Ccer2 UTSW 7 28,455,629 (GRCm39) unclassified probably benign
R8977:Ccer2 UTSW 7 28,456,113 (GRCm39) missense probably damaging 0.97
R9226:Ccer2 UTSW 7 28,456,561 (GRCm39) missense possibly damaging 0.83
Z1186:Ccer2 UTSW 7 28,456,915 (GRCm39) missense probably benign
Z1186:Ccer2 UTSW 7 28,456,593 (GRCm39) missense possibly damaging 0.46
Predicted Primers PCR Primer
(F):5'- CAAGAACCTGGTTCCCTTGAAGCTC -3'
(R):5'- TGGATGTTGCTTCCACACATGCTC -3'

Sequencing Primer
(F):5'- CCCTTGAAGCTCGCTGC -3'
(R):5'- tcttctcctcttcttccttttcc -3'
Posted On 2013-07-11