Incidental Mutation 'R6255:Cecr2'
ID 506053
Institutional Source Beutler Lab
Gene Symbol Cecr2
Ensembl Gene ENSMUSG00000071226
Gene Name CECR2, histone acetyl-lysine reader
Synonyms Gtl4, 2610101O16Rik, 2810409N01Rik
MMRRC Submission 044372-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6255 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 120666369-120771190 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120758050 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 721 (Y721C)
Ref Sequence ENSEMBL: ENSMUSP00000108306 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100993] [ENSMUST00000112686] [ENSMUST00000129803]
AlphaFold E9Q2Z1
Predicted Effect probably damaging
Transcript: ENSMUST00000100993
AA Change: Y749C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098556
Gene: ENSMUSG00000071226
AA Change: Y749C

DomainStartEndE-ValueType
low complexity region 4 14 N/A INTRINSIC
low complexity region 194 209 N/A INTRINSIC
low complexity region 211 222 N/A INTRINSIC
Pfam:WHIM3 244 284 5.2e-11 PFAM
coiled coil region 322 382 N/A INTRINSIC
BROMO 416 520 5.09e-32 SMART
low complexity region 536 551 N/A INTRINSIC
low complexity region 781 796 N/A INTRINSIC
low complexity region 839 855 N/A INTRINSIC
low complexity region 890 907 N/A INTRINSIC
low complexity region 1173 1187 N/A INTRINSIC
low complexity region 1202 1223 N/A INTRINSIC
low complexity region 1355 1366 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112686
AA Change: Y721C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108306
Gene: ENSMUSG00000071226
AA Change: Y721C

DomainStartEndE-ValueType
low complexity region 4 14 N/A INTRINSIC
low complexity region 194 209 N/A INTRINSIC
low complexity region 211 222 N/A INTRINSIC
coiled coil region 322 382 N/A INTRINSIC
BROMO 416 520 5.09e-32 SMART
low complexity region 536 551 N/A INTRINSIC
low complexity region 753 768 N/A INTRINSIC
low complexity region 811 827 N/A INTRINSIC
low complexity region 862 879 N/A INTRINSIC
low complexity region 1145 1159 N/A INTRINSIC
low complexity region 1174 1195 N/A INTRINSIC
low complexity region 1327 1338 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124634
Predicted Effect probably benign
Transcript: ENSMUST00000129803
SMART Domains Protein: ENSMUSP00000118542
Gene: ENSMUSG00000071226

DomainStartEndE-ValueType
low complexity region 7 18 N/A INTRINSIC
coiled coil region 90 150 N/A INTRINSIC
Pfam:Bromodomain 191 234 1.1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143563
SMART Domains Protein: ENSMUSP00000116993
Gene: ENSMUSG00000071226

DomainStartEndE-ValueType
low complexity region 5 20 N/A INTRINSIC
low complexity region 63 79 N/A INTRINSIC
low complexity region 114 131 N/A INTRINSIC
low complexity region 155 174 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 100% (58/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a bromodomain-containing protein that is involved in chromatin remodeling, and may additionally play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is involved in neurulation. This gene is a candidate gene for Cat Eye Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygous mutant mice display varied penetrance of exencephaly depending on genetic background. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T A 13: 119,466,123 (GRCm38) V7E possibly damaging Het
Aars2 G A 17: 45,514,609 (GRCm38) G333S probably damaging Het
Aen T A 7: 78,905,844 (GRCm38) I85N probably damaging Het
Ahnak C A 19: 9,008,025 (GRCm38) H2224Q possibly damaging Het
Aldh18a1 C T 19: 40,580,043 (GRCm38) R41H possibly damaging Het
Bpifb9b T A 2: 154,309,364 (GRCm38) W2R probably damaging Het
Caprin2 A G 6: 148,877,892 (GRCm38) I139T probably benign Het
Cdhr3 T A 12: 33,053,475 (GRCm38) N381I probably damaging Het
Cherp G T 8: 72,470,881 (GRCm38) A125D probably damaging Het
Cped1 G A 6: 22,138,715 (GRCm38) probably null Het
Ctdp1 T A 18: 80,459,297 (GRCm38) probably null Het
Cyp2c55 T C 19: 39,018,667 (GRCm38) I169T probably benign Het
Cyp4a31 T C 4: 115,574,920 (GRCm38) L418P possibly damaging Het
Efcab7 T C 4: 99,829,390 (GRCm38) probably benign Het
Efcab8 T C 2: 153,810,268 (GRCm38) W466R possibly damaging Het
Ehd3 C A 17: 73,805,413 (GRCm38) N57K probably benign Het
Ern2 C A 7: 122,173,272 (GRCm38) K654N probably damaging Het
Fbxo18 A T 2: 11,748,446 (GRCm38) F879L probably benign Het
Gde1 T C 7: 118,691,781 (GRCm38) D92G probably null Het
Gm4788 A T 1: 139,753,011 (GRCm38) C256* probably null Het
Heatr5b A G 17: 78,803,434 (GRCm38) V995A probably damaging Het
Ifrd2 A G 9: 107,592,091 (GRCm38) E346G probably damaging Het
Ism1 AACGGACCCGTTCTTGTGGCTATGCA AA 2: 139,746,042 (GRCm38) probably benign Het
Itgb4 T C 11: 115,998,137 (GRCm38) V1102A possibly damaging Het
Itgb6 A T 2: 60,605,276 (GRCm38) I710N probably damaging Het
Kif1a T C 1: 93,019,983 (GRCm38) K1578E probably damaging Het
Kif9 T C 9: 110,517,834 (GRCm38) probably null Het
Kitl T C 10: 100,089,233 (GRCm38) *57Q probably null Het
Lrat C A 3: 82,903,505 (GRCm38) V70F probably damaging Het
Lrrc9 T A 12: 72,487,023 (GRCm38) M1022K probably benign Het
Muc16 T C 9: 18,655,599 (GRCm38) T1875A unknown Het
Mup4 T A 4: 59,957,890 (GRCm38) N171I probably damaging Het
Npas4 G A 19: 4,986,375 (GRCm38) T587I probably damaging Het
Oas3 A G 5: 120,771,230 (GRCm38) V217A probably benign Het
Olfr786 A G 10: 129,437,688 (GRCm38) N292S possibly damaging Het
Osbp C A 19: 11,977,953 (GRCm38) A323D possibly damaging Het
Panx2 G A 15: 89,067,618 (GRCm38) R96H probably damaging Het
Pcdhb18 G A 18: 37,490,484 (GRCm38) R289Q probably benign Het
Piezo2 T C 18: 63,121,270 (GRCm38) R385G possibly damaging Het
Pkn2 T C 3: 142,811,599 (GRCm38) T476A probably damaging Het
Plekha4 T C 7: 45,553,802 (GRCm38) probably benign Het
Ppfibp2 T C 7: 107,681,762 (GRCm38) S94P probably damaging Het
Pramel7 T A 2: 87,489,663 (GRCm38) I429L probably benign Het
Rif1 A G 2: 52,085,053 (GRCm38) K325E probably damaging Het
Ror2 T C 13: 53,110,542 (GRCm38) Y826C probably damaging Het
Rsph10b G A 5: 143,959,746 (GRCm38) G19R probably damaging Het
Slc20a1 A G 2: 129,208,004 (GRCm38) N361D probably damaging Het
Slc26a9 A G 1: 131,763,909 (GRCm38) D630G probably benign Het
Smtnl2 G A 11: 72,401,399 (GRCm38) A274V probably damaging Het
Trank1 T C 9: 111,352,246 (GRCm38) probably null Het
Tspan10 T A 11: 120,444,542 (GRCm38) C159* probably null Het
Uba6 G A 5: 86,164,765 (GRCm38) T23I probably benign Het
Vmn2r74 T C 7: 85,952,451 (GRCm38) T660A possibly damaging Het
Vwa5b1 T C 4: 138,578,672 (GRCm38) N905S probably benign Het
Zfp831 T C 2: 174,646,421 (GRCm38) L963P possibly damaging Het
Zfp990 T A 4: 145,537,789 (GRCm38) N452K probably benign Het
Other mutations in Cecr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Cecr2 APN 6 120,756,717 (GRCm38) missense probably damaging 1.00
IGL00782:Cecr2 APN 6 120,761,621 (GRCm38) missense probably benign 0.00
IGL01137:Cecr2 APN 6 120,762,028 (GRCm38) missense probably damaging 1.00
IGL01446:Cecr2 APN 6 120,758,599 (GRCm38) missense probably benign
IGL02108:Cecr2 APN 6 120,762,558 (GRCm38) critical splice donor site probably null
IGL02195:Cecr2 APN 6 120,731,406 (GRCm38) missense probably damaging 1.00
IGL02689:Cecr2 APN 6 120,762,167 (GRCm38) missense probably damaging 1.00
IGL03189:Cecr2 APN 6 120,762,430 (GRCm38) missense probably benign 0.13
PIT1430001:Cecr2 UTSW 6 120,758,479 (GRCm38) missense probably benign 0.01
R0200:Cecr2 UTSW 6 120,761,797 (GRCm38) missense probably damaging 1.00
R0586:Cecr2 UTSW 6 120,757,884 (GRCm38) missense probably damaging 1.00
R0715:Cecr2 UTSW 6 120,758,198 (GRCm38) missense probably benign 0.21
R0784:Cecr2 UTSW 6 120,758,149 (GRCm38) missense possibly damaging 0.74
R1185:Cecr2 UTSW 6 120,758,205 (GRCm38) nonsense probably null
R1185:Cecr2 UTSW 6 120,758,205 (GRCm38) nonsense probably null
R1185:Cecr2 UTSW 6 120,758,205 (GRCm38) nonsense probably null
R1343:Cecr2 UTSW 6 120,754,711 (GRCm38) missense probably damaging 0.99
R1349:Cecr2 UTSW 6 120,757,603 (GRCm38) missense probably damaging 0.99
R1386:Cecr2 UTSW 6 120,762,131 (GRCm38) missense probably damaging 1.00
R1438:Cecr2 UTSW 6 120,761,472 (GRCm38) nonsense probably null
R1602:Cecr2 UTSW 6 120,755,587 (GRCm38) missense possibly damaging 0.52
R1664:Cecr2 UTSW 6 120,762,026 (GRCm38) missense probably damaging 0.96
R1731:Cecr2 UTSW 6 120,758,180 (GRCm38) missense possibly damaging 0.74
R1817:Cecr2 UTSW 6 120,731,267 (GRCm38) missense probably damaging 1.00
R1818:Cecr2 UTSW 6 120,731,267 (GRCm38) missense probably damaging 1.00
R1819:Cecr2 UTSW 6 120,731,267 (GRCm38) missense probably damaging 1.00
R1862:Cecr2 UTSW 6 120,757,941 (GRCm38) missense probably damaging 1.00
R1907:Cecr2 UTSW 6 120,761,160 (GRCm38) missense probably benign 0.03
R1911:Cecr2 UTSW 6 120,762,565 (GRCm38) unclassified probably benign
R2135:Cecr2 UTSW 6 120,720,962 (GRCm38) missense probably damaging 1.00
R2273:Cecr2 UTSW 6 120,756,741 (GRCm38) missense probably benign 0.00
R2275:Cecr2 UTSW 6 120,756,741 (GRCm38) missense probably benign 0.00
R3713:Cecr2 UTSW 6 120,758,260 (GRCm38) missense probably damaging 1.00
R4271:Cecr2 UTSW 6 120,762,475 (GRCm38) missense probably damaging 1.00
R4706:Cecr2 UTSW 6 120,755,578 (GRCm38) missense possibly damaging 0.73
R4873:Cecr2 UTSW 6 120,750,916 (GRCm38) missense probably damaging 0.99
R4875:Cecr2 UTSW 6 120,750,916 (GRCm38) missense probably damaging 0.99
R5137:Cecr2 UTSW 6 120,755,517 (GRCm38) missense probably benign
R5153:Cecr2 UTSW 6 120,734,560 (GRCm38) missense probably benign 0.03
R5377:Cecr2 UTSW 6 120,756,569 (GRCm38) missense possibly damaging 0.87
R5598:Cecr2 UTSW 6 120,731,446 (GRCm38) splice site probably null
R5651:Cecr2 UTSW 6 120,755,560 (GRCm38) missense probably damaging 0.96
R5680:Cecr2 UTSW 6 120,761,426 (GRCm38) missense probably benign
R5813:Cecr2 UTSW 6 120,762,208 (GRCm38) missense probably damaging 0.99
R5970:Cecr2 UTSW 6 120,720,907 (GRCm38) missense probably damaging 0.98
R6266:Cecr2 UTSW 6 120,761,686 (GRCm38) missense probably benign
R6630:Cecr2 UTSW 6 120,762,178 (GRCm38) missense probably damaging 1.00
R6737:Cecr2 UTSW 6 120,737,123 (GRCm38) missense possibly damaging 0.86
R6754:Cecr2 UTSW 6 120,757,578 (GRCm38) missense probably damaging 0.98
R6807:Cecr2 UTSW 6 120,734,542 (GRCm38) splice site probably null
R7187:Cecr2 UTSW 6 120,756,686 (GRCm38) missense probably benign
R7256:Cecr2 UTSW 6 120,762,529 (GRCm38) missense probably benign
R7282:Cecr2 UTSW 6 120,761,621 (GRCm38) missense
R7548:Cecr2 UTSW 6 120,761,714 (GRCm38) missense
R7596:Cecr2 UTSW 6 120,762,206 (GRCm38) missense probably benign
R7802:Cecr2 UTSW 6 120,743,847 (GRCm38) missense probably benign 0.45
R8112:Cecr2 UTSW 6 120,762,214 (GRCm38) missense probably benign 0.00
R8289:Cecr2 UTSW 6 120,758,116 (GRCm38) missense probably benign 0.24
R8294:Cecr2 UTSW 6 120,733,786 (GRCm38) missense probably damaging 0.99
R8470:Cecr2 UTSW 6 120,756,933 (GRCm38) missense probably benign 0.21
R8697:Cecr2 UTSW 6 120,733,818 (GRCm38) missense probably damaging 1.00
R8887:Cecr2 UTSW 6 120,738,201 (GRCm38) missense probably damaging 1.00
R9371:Cecr2 UTSW 6 120,762,268 (GRCm38) missense probably benign 0.01
R9416:Cecr2 UTSW 6 120,758,577 (GRCm38) missense
R9477:Cecr2 UTSW 6 120,743,782 (GRCm38) critical splice acceptor site probably null
R9588:Cecr2 UTSW 6 120,756,809 (GRCm38) missense possibly damaging 0.87
X0012:Cecr2 UTSW 6 120,733,774 (GRCm38) missense probably damaging 0.99
X0063:Cecr2 UTSW 6 120,762,071 (GRCm38) missense probably benign 0.01
Z1177:Cecr2 UTSW 6 120,720,962 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGAATTAGTAACCATCGGGGATCC -3'
(R):5'- TAGGTTGTCTCATCACTCGGC -3'

Sequencing Primer
(F):5'- GACCTTTCCAATATGGGGTCACATG -3'
(R):5'- CCATCCATCATATGACCAAGGGTATG -3'
Posted On 2018-02-28