Incidental Mutation 'R7324:Cc2d2b'
ID 568793
Institutional Source Beutler Lab
Gene Symbol Cc2d2b
Ensembl Gene ENSMUSG00000108929
Gene Name coiled-coil and C2 domain containing 2B
Synonyms EG668310
MMRRC Submission 045418-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R7324 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 40737197-40816187 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40797552 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 778 (D778G)
Ref Sequence ENSEMBL: ENSMUSP00000146979 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000207801] [ENSMUST00000224596]
AlphaFold A0A286YDU8
Predicted Effect unknown
Transcript: ENSMUST00000207801
AA Change: D778G
Predicted Effect probably damaging
Transcript: ENSMUST00000224596
AA Change: D1044G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (81/82)
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 T C 17: 84,983,667 (GRCm39) D124G possibly damaging Het
Ackr3 C G 1: 90,141,923 (GRCm39) N127K probably damaging Het
AL732309.1 A C 2: 25,136,151 (GRCm39) M21R possibly damaging Het
Ankrd52 C A 10: 128,222,032 (GRCm39) T552K possibly damaging Het
Arhgap28 T C 17: 68,202,879 (GRCm39) probably null Het
Arid5b A T 10: 67,964,752 (GRCm39) N306K probably benign Het
C1qtnf3 A C 15: 10,952,707 (GRCm39) K56N probably benign Het
C2 C T 17: 35,100,664 (GRCm39) G52D probably benign Het
Casz1 C T 4: 149,031,490 (GRCm39) T1247M probably damaging Het
Cdh5 A G 8: 104,869,425 (GRCm39) D717G probably damaging Het
Clca3a2 G A 3: 144,514,372 (GRCm39) A445V probably damaging Het
Clca3b T A 3: 144,547,181 (GRCm39) M319L possibly damaging Het
Csmd1 G A 8: 16,108,721 (GRCm39) S1894L probably damaging Het
Csnk1g3 A G 18: 54,052,090 (GRCm39) T220A probably damaging Het
Cyp2d10 T G 15: 82,287,961 (GRCm39) T381P probably damaging Het
Ddb2 G A 2: 91,067,229 (GRCm39) probably benign Het
Ddx24 C A 12: 103,382,518 (GRCm39) L688F probably damaging Het
Dennd4c T C 4: 86,747,975 (GRCm39) L1615P unknown Het
Dnah8 T A 17: 31,003,099 (GRCm39) D3599E probably benign Het
Dst T C 1: 34,045,305 (GRCm39) S13P possibly damaging Het
Efcab12 T C 6: 115,800,555 (GRCm39) D156G probably benign Het
Enpp2 A G 15: 54,741,170 (GRCm39) probably null Het
Ephx2 A G 14: 66,322,803 (GRCm39) V490A probably damaging Het
Etnppl A G 3: 130,423,224 (GRCm39) N308D probably damaging Het
F5 TCAGAAGACCTCCTCCCCAGACCTGGGCCAGGTGCCCCTTTCTCCAGATGACAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGTCCCTTTCTCCAGATGATAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCTAGATGACAACCAGAAGACGACCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCCAGATGACAACCAGA TCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGTCCCTTTCTCCAGATGATAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCTAGATGACAACCAGAAGACGACCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCCAGATGACAACCAGA 1: 164,021,150 (GRCm39) probably benign Het
Fam162b A T 10: 51,466,282 (GRCm39) probably null Het
Fancl A G 11: 26,353,362 (GRCm39) E86G probably damaging Het
Flii G A 11: 60,609,866 (GRCm39) T615I probably benign Het
Fndc7 G T 3: 108,779,537 (GRCm39) Q336K probably benign Het
Gm26661 T C 14: 7,791,911 (GRCm38) C109R unknown Het
H2-DMb1 T C 17: 34,378,436 (GRCm39) probably null Het
H2-T10 C T 17: 36,430,189 (GRCm39) G251R probably damaging Het
Harbi1 T C 2: 91,551,044 (GRCm39) I339T probably benign Het
Hsp90aa1 A G 12: 110,661,659 (GRCm39) M119T unknown Het
Ighe T A 12: 113,235,954 (GRCm39) Y124F Het
Ighv7-1 T C 12: 113,860,149 (GRCm39) Y81C probably damaging Het
Ilkap A T 1: 91,313,115 (GRCm39) probably null Het
Inpp5a A G 7: 139,105,586 (GRCm39) D179G probably damaging Het
Itgad A T 7: 127,788,979 (GRCm39) D510V probably damaging Het
Kcnn2 A T 18: 45,693,138 (GRCm39) H238L probably benign Het
Kctd17 T A 15: 78,319,842 (GRCm39) C189S probably damaging Het
Larp4b C A 13: 9,208,616 (GRCm39) A423E probably benign Het
Llgl2 A G 11: 115,741,556 (GRCm39) E562G possibly damaging Het
Macf1 T C 4: 123,268,218 (GRCm39) T6734A probably benign Het
Maz G A 7: 126,623,765 (GRCm39) T377M probably damaging Het
Mmrn1 G T 6: 60,921,917 (GRCm39) G125* probably null Het
Mvp A G 7: 126,592,781 (GRCm39) S377P probably benign Het
Nin C T 12: 70,090,508 (GRCm39) R969Q Het
Nktr C T 9: 121,556,427 (GRCm39) T35I probably damaging Het
Nktr T A 9: 121,577,357 (GRCm39) M475K possibly damaging Het
Nod2 T A 8: 89,379,694 (GRCm39) V65D probably damaging Het
Opa1 A T 16: 29,405,799 (GRCm39) E121D probably benign Het
Or10w3 C T 19: 13,704,270 (GRCm39) A215V probably benign Het
Or1r1 A G 11: 73,874,669 (GRCm39) V255A probably benign Het
Or2n1c T C 17: 38,519,607 (GRCm39) V157A probably benign Het
Or4a76 A T 2: 89,460,447 (GRCm39) I265N possibly damaging Het
Or5ac21 T C 16: 59,123,611 (GRCm39) F32L probably benign Het
Or5b123 A G 19: 13,596,942 (GRCm39) I96V probably benign Het
Or6c88 T A 10: 129,406,718 (GRCm39) S65T probably damaging Het
Or7e174 A T 9: 20,012,726 (GRCm39) I224F possibly damaging Het
Osbpl2 A G 2: 179,791,994 (GRCm39) T233A probably benign Het
Pcp4l1 G A 1: 171,002,034 (GRCm39) A42V possibly damaging Het
Plekhh3 T A 11: 101,061,600 (GRCm39) D38V possibly damaging Het
Prtg C T 9: 72,798,122 (GRCm39) A696V probably damaging Het
Ptpn14 T G 1: 189,595,621 (GRCm39) V748G possibly damaging Het
Reg2 A T 6: 78,383,137 (GRCm39) D28V probably benign Het
Rhpn1 A T 15: 75,576,246 (GRCm39) I2F possibly damaging Het
Rundc3a A G 11: 102,290,799 (GRCm39) E294G possibly damaging Het
Scara3 T A 14: 66,168,865 (GRCm39) I251L probably benign Het
Slc23a2 G A 2: 131,931,043 (GRCm39) T152I probably damaging Het
Slc39a2 T G 14: 52,131,650 (GRCm39) S74A possibly damaging Het
Tmprss15 T C 16: 78,758,907 (GRCm39) Y937C probably damaging Het
Tpp2 T C 1: 44,017,938 (GRCm39) L779S probably damaging Het
Tssk2 T C 16: 17,717,227 (GRCm39) V210A possibly damaging Het
Ttn T A 2: 76,725,937 (GRCm39) T6100S unknown Het
Tufm G A 7: 126,088,759 (GRCm39) E317K possibly damaging Het
Vinac1 T C 2: 128,879,772 (GRCm39) D718G unknown Het
Wdfy4 A G 14: 32,769,271 (GRCm39) S2219P Het
Wtap T C 17: 13,199,833 (GRCm39) N50S possibly 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
R6960:Cc2d2b UTSW 19 40,773,506 (GRCm39) missense possibly damaging 0.85
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
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'- GGACATTTCAAGTGAACATCCC -3'
(R):5'- AACATGGCCTTACAGTTCCTGG -3'

Sequencing Primer
(F):5'- AGTGAACATCCCACCCATTTTG -3'
(R):5'- GGCCTTACAGTTCCTGGTAAAAGTC -3'
Posted On 2019-09-13