Incidental Mutation 'R9226:Ccer2'
ID 699856
Institutional Source Beutler Lab
Gene Symbol Ccer2
Ensembl Gene ENSMUSG00000096257
Gene Name coiled-coil glutamate-rich protein 2
Synonyms Gm6537
MMRRC Submission 068960-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R9226 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 28455599-28458393 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28456561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 102 (S102P)
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 possibly damaging
Transcript: ENSMUST00000178767
AA Change: S102P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000137487
Gene: ENSMUSG00000096257
AA Change: S102P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (57/57)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A T 5: 88,118,518 (GRCm39) M1L probably benign Het
Adgrf4 C A 17: 42,980,606 (GRCm39) A160S probably damaging Het
Adgrl1 T C 8: 84,656,426 (GRCm39) V243A possibly damaging Het
Adgrl4 G T 3: 151,198,064 (GRCm39) probably null Het
Alg8 A G 7: 97,027,423 (GRCm39) Y97C probably damaging Het
Ankrd12 T A 17: 66,292,754 (GRCm39) D893V probably damaging Het
Anxa6 T A 11: 54,885,791 (GRCm39) T385S probably benign Het
Art4 A T 6: 136,831,365 (GRCm39) C259S probably damaging Het
Cdhr3 A G 12: 33,132,320 (GRCm39) F101S probably damaging Het
Ctdsp1 G T 1: 74,434,735 (GRCm39) G260W probably damaging Het
Cyp24a1 T C 2: 170,338,277 (GRCm39) Y89C probably damaging Het
Cyp2d34 T C 15: 82,504,901 (GRCm39) D53G probably damaging Het
Dnah7a A C 1: 53,560,326 (GRCm39) I2115S possibly damaging Het
Exoc4 T A 6: 33,895,359 (GRCm39) I792N possibly damaging Het
Gm4353 A G 7: 115,683,006 (GRCm39) F192L probably damaging Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Ift140 T C 17: 25,317,839 (GRCm39) V1441A probably benign Het
Ighv1-49 A T 12: 115,019,073 (GRCm39) C41S probably damaging Het
Lgalsl A T 11: 20,779,306 (GRCm39) I113N possibly damaging Het
Lrp1b T C 2: 41,401,460 (GRCm39) D398G Het
Lrrc4b A G 7: 44,112,099 (GRCm39) H657R possibly damaging Het
Map2k2 T C 10: 80,955,193 (GRCm39) V228A possibly damaging Het
Mdn1 A G 4: 32,694,612 (GRCm39) I1112V probably benign Het
Mipep T A 14: 61,068,692 (GRCm39) M488K possibly damaging Het
Myo15b A G 11: 115,750,924 (GRCm39) T565A Het
Nfat5 T C 8: 108,095,401 (GRCm39) L1214P probably damaging Het
Nphp3 A G 9: 103,885,328 (GRCm39) T223A probably benign Het
Or10s1 A G 9: 39,986,187 (GRCm39) I199V probably benign Het
Or52s19 A G 7: 103,008,092 (GRCm39) M103T probably damaging Het
Pkn2 G A 3: 142,499,709 (GRCm39) R939W probably damaging Het
Pla2g4c T C 7: 13,059,671 (GRCm39) C3R possibly damaging Het
Plxnd1 A T 6: 115,934,524 (GRCm39) I1803N probably damaging Het
Pygb C A 2: 150,662,781 (GRCm39) H583N possibly damaging Het
Rbm20 A G 19: 53,839,645 (GRCm39) D878G possibly damaging Het
Rdx C A 9: 51,992,468 (GRCm39) Q414K probably benign Het
Scara3 T C 14: 66,169,233 (GRCm39) E128G possibly damaging Het
Sel1l2 T C 2: 140,097,222 (GRCm39) Y361C probably damaging Het
Sfmbt2 T C 2: 10,442,860 (GRCm39) I179T probably benign Het
Sgsm2 C T 11: 74,748,960 (GRCm39) V567M possibly damaging Het
Sirt4 G A 5: 115,618,372 (GRCm39) T234M probably damaging Het
Stab1 T G 14: 30,867,812 (GRCm39) K1653Q probably benign Het
Strn4 T C 7: 16,559,722 (GRCm39) probably benign Het
Stxbp5l C A 16: 37,076,206 (GRCm39) S280I probably damaging Het
Tex30 G A 1: 44,126,133 (GRCm39) R199W probably damaging Het
Tjp3 A C 10: 81,110,420 (GRCm39) F731V probably damaging Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Tmco3 A G 8: 13,360,143 (GRCm39) probably null Het
Tmem94 C A 11: 115,683,191 (GRCm39) A658E probably damaging Het
Tnxb T A 17: 34,904,766 (GRCm39) L1177Q probably damaging Het
Trim28 G A 7: 12,763,490 (GRCm39) A544T probably benign Het
Upf2 T A 2: 6,051,845 (GRCm39) V1169D unknown Het
Usp20 C A 2: 30,907,412 (GRCm39) A648D probably damaging Het
Vmn2r108 T G 17: 20,691,330 (GRCm39) N398H probably benign Het
Whamm A T 7: 81,243,655 (GRCm39) S626C probably damaging Het
Zbtb44 A G 9: 30,975,524 (GRCm39) S385G possibly damaging Het
Zfp580 C T 7: 5,056,137 (GRCm39) Q166* probably null Het
Other mutations in Ccer2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0581:Ccer2 UTSW 7 28,456,451 (GRCm39) splice site probably benign
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
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'- AGCAGAGAACATTTGCAGCC -3'
(R):5'- GCTTCCACACATGCTCAGAG -3'

Sequencing Primer
(F):5'- GAACATTTGCAGCCCATGG -3'
(R):5'- ACACATGCTCAGAGGTCTTC -3'
Posted On 2022-02-07