Incidental Mutation 'R6960:Cc2d2b'
ID 541732
Institutional Source Beutler Lab
Gene Symbol Cc2d2b
Ensembl Gene ENSMUSG00000108929
Gene Name coiled-coil and C2 domain containing 2B
Synonyms EG668310
MMRRC Submission 045070-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R6960 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 40737197-40816187 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40773506 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 523 (V523A)
Ref Sequence ENSEMBL: ENSMUSP00000153384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000207801] [ENSMUST00000224596]
AlphaFold A0A286YDU8
Predicted Effect probably benign
Transcript: ENSMUST00000207801
Predicted Effect possibly damaging
Transcript: ENSMUST00000224596
AA Change: V523A

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 98% (50/51)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,072,924 (GRCm39) D1170G probably benign Het
Ak7 A T 12: 105,676,503 (GRCm39) T68S probably benign Het
Arhgap12 A T 18: 6,111,901 (GRCm39) N26K probably damaging Het
B3galt1 A T 2: 67,949,033 (GRCm39) E249D probably damaging Het
Catsper4 T A 4: 133,954,648 (GRCm39) M1L probably benign Het
Ccn4 C T 15: 66,791,047 (GRCm39) T283M probably benign Het
Cyp11a1 T C 9: 57,925,659 (GRCm39) F98S probably damaging Het
Cyp2d26 T C 15: 82,674,446 (GRCm39) S479G probably damaging Het
Dclre1a T G 19: 56,531,141 (GRCm39) Y735S probably damaging Het
Dio2 C T 12: 90,696,671 (GRCm39) G106R probably damaging Het
Efcab12 T C 6: 115,815,273 (GRCm39) probably benign Het
Ehhadh C A 16: 21,581,028 (GRCm39) V655L probably benign Het
Ercc2 G A 7: 19,127,615 (GRCm39) R379Q probably damaging Het
Fabp4 A G 3: 10,273,537 (GRCm39) V12A probably benign Het
Fbn1 T C 2: 125,223,980 (GRCm39) I590V probably benign Het
Grm8 C A 6: 27,981,281 (GRCm39) V210L probably damaging Het
Jakmip3 A G 7: 138,625,065 (GRCm39) D359G probably damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Ly75 A T 2: 60,136,749 (GRCm39) Y1493N probably benign Het
Lyst A G 13: 13,808,663 (GRCm39) N111S probably benign Het
Lyz2 G C 10: 117,114,607 (GRCm39) I107M possibly damaging Het
Mgat5 A T 1: 127,248,371 (GRCm39) D91V possibly damaging Het
Mical3 T A 6: 120,935,504 (GRCm39) D1674V probably damaging Het
Myom2 G A 8: 15,167,741 (GRCm39) A1109T probably null Het
Naa16 A G 14: 79,596,911 (GRCm39) Y358H possibly damaging Het
Nktr T A 9: 121,571,758 (GRCm39) H226Q probably damaging Het
Ocln T G 13: 100,635,380 (GRCm39) K503T possibly damaging Het
Olfm4 T C 14: 80,258,754 (GRCm39) L301S probably damaging Het
Or4f4b G A 2: 111,314,071 (GRCm39) V127I possibly damaging Het
Or6c74 T C 10: 129,869,972 (GRCm39) L159P probably benign Het
Paqr4 G A 17: 23,956,697 (GRCm39) A222V probably benign Het
Pcdhb13 A G 18: 37,576,509 (GRCm39) T296A probably benign Het
Phka2 G A X: 159,316,044 (GRCm39) V230I probably damaging Het
Pigg T C 5: 108,474,707 (GRCm39) V309A probably damaging Het
Ptger4 T C 15: 5,264,196 (GRCm39) R462G probably benign Het
Ptprc C T 1: 138,006,183 (GRCm39) probably null Het
Rabggta A C 14: 55,959,299 (GRCm39) probably null Het
Rnf25 A G 1: 74,634,403 (GRCm39) S207P possibly damaging Het
Rsf1 G GACGGCGGCC 7: 97,229,116 (GRCm39) probably benign Het
Rtf1 A G 2: 119,541,559 (GRCm39) Q264R probably damaging Het
Ryr2 A G 13: 11,816,129 (GRCm39) V619A probably benign Het
Serpinb6d A G 13: 33,855,181 (GRCm39) N285S probably benign Het
Slamf6 A G 1: 171,745,320 (GRCm39) M16V probably damaging Het
Slc22a23 A G 13: 34,528,140 (GRCm39) probably null Het
Slc23a2 T C 2: 131,933,173 (GRCm39) D95G probably damaging Het
Smc3 T C 19: 53,617,802 (GRCm39) Y600H probably damaging Het
Tarbp1 G A 8: 127,155,778 (GRCm39) T1320M possibly damaging Het
Tigd4 A T 3: 84,501,423 (GRCm39) K113N probably damaging Het
Tjp1 A T 7: 64,952,763 (GRCm39) F1444I possibly damaging Het
Tstd3 A T 4: 21,767,118 (GRCm39) M1K probably null Het
Zbtb46 T C 2: 181,065,217 (GRCm39) D311G probably damaging Het
Other mutations in Cc2d2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
mortal UTSW 19 40,797,898 (GRCm39) missense probably benign 0.06
Shuffeloff UTSW 19 40,813,483 (GRCm39) missense probably damaging 0.99
1mM(1):Cc2d2b UTSW 19 40,784,129 (GRCm39) missense possibly damaging 0.60
R6163:Cc2d2b UTSW 19 40,744,950 (GRCm39) missense probably benign 0.31
R6481:Cc2d2b UTSW 19 40,790,839 (GRCm39) missense possibly damaging 0.95
R6651:Cc2d2b UTSW 19 40,766,573 (GRCm39) missense probably damaging 0.97
R6747:Cc2d2b UTSW 19 40,784,111 (GRCm39) missense probably benign 0.03
R6799:Cc2d2b UTSW 19 40,779,652 (GRCm39) missense possibly damaging 0.69
R6857:Cc2d2b UTSW 19 40,759,309 (GRCm39) missense possibly damaging 0.62
R6869:Cc2d2b UTSW 19 40,797,898 (GRCm39) missense probably benign 0.06
R6881:Cc2d2b UTSW 19 40,813,483 (GRCm39) missense probably damaging 0.99
R6900:Cc2d2b UTSW 19 40,813,518 (GRCm39) missense probably null 0.08
R6902:Cc2d2b UTSW 19 40,804,733 (GRCm39) missense possibly damaging 0.93
R7016:Cc2d2b UTSW 19 40,784,248 (GRCm39) missense possibly damaging 0.85
R7039:Cc2d2b UTSW 19 40,790,845 (GRCm39) missense probably damaging 1.00
R7072:Cc2d2b UTSW 19 40,748,803 (GRCm39) missense unknown
R7192:Cc2d2b UTSW 19 40,762,881 (GRCm39) missense unknown
R7226:Cc2d2b UTSW 19 40,779,751 (GRCm39) missense unknown
R7303:Cc2d2b UTSW 19 40,797,438 (GRCm39) missense unknown
R7324:Cc2d2b UTSW 19 40,797,552 (GRCm39) missense unknown
R7503:Cc2d2b UTSW 19 40,783,056 (GRCm39) missense unknown
R7727:Cc2d2b UTSW 19 40,744,974 (GRCm39) missense probably benign 0.03
R7774:Cc2d2b UTSW 19 40,754,161 (GRCm39) missense unknown
R7830:Cc2d2b UTSW 19 40,753,801 (GRCm39) missense possibly damaging 0.95
R7923:Cc2d2b UTSW 19 40,795,293 (GRCm39) missense possibly damaging 0.93
R7937:Cc2d2b UTSW 19 40,765,736 (GRCm39) missense
R8306:Cc2d2b UTSW 19 40,804,228 (GRCm39) nonsense probably null
R8367:Cc2d2b UTSW 19 40,754,419 (GRCm39) missense unknown
R8903:Cc2d2b UTSW 19 40,797,726 (GRCm39) missense unknown
R9056:Cc2d2b UTSW 19 40,784,216 (GRCm39) missense unknown
R9142:Cc2d2b UTSW 19 40,753,845 (GRCm39) nonsense probably null
R9256:Cc2d2b UTSW 19 40,797,848 (GRCm39) missense unknown
R9373:Cc2d2b UTSW 19 40,784,167 (GRCm39) missense unknown
R9500:Cc2d2b UTSW 19 40,797,840 (GRCm39) missense unknown
R9503:Cc2d2b UTSW 19 40,804,275 (GRCm39) missense unknown
R9525:Cc2d2b UTSW 19 40,773,430 (GRCm39) missense probably damaging 0.99
R9534:Cc2d2b UTSW 19 40,799,068 (GRCm39) nonsense probably null
R9667:Cc2d2b UTSW 19 40,753,927 (GRCm39) missense unknown
R9752:Cc2d2b UTSW 19 40,781,271 (GRCm39) missense probably damaging 0.96
R9764:Cc2d2b UTSW 19 40,804,299 (GRCm39) missense unknown
R9798:Cc2d2b UTSW 19 40,783,080 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CCACTCTTAGATAATTTGGGAGGG -3'
(R):5'- TCGCTAACCATAGAAGCCAG -3'

Sequencing Primer
(F):5'- GGGGAAGAGCGTTTTATATGGTC -3'
(R):5'- TCGCTAACCATAGAAGCCAGACATTC -3'
Posted On 2018-11-28