Incidental Mutation 'R1386:Cecr2'
ID 160583
Institutional Source Beutler Lab
Gene Symbol Cecr2
Ensembl Gene ENSMUSG00000071226
Gene Name CECR2, histone acetyl-lysine reader
Synonyms cat eye syndrome chromosome region, candidate 2, Gtl4, 2610101O16Rik, 2810409N01Rik
MMRRC Submission 039448-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1386 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 120643330-120748151 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120739092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1245 (E1245G)
Ref Sequence ENSEMBL: ENSMUSP00000108306 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100993] [ENSMUST00000112686]
AlphaFold E9Q2Z1
Predicted Effect probably damaging
Transcript: ENSMUST00000100993
AA Change: E1273G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000098556
Gene: ENSMUSG00000071226
AA Change: E1273G

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: E1245G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108306
Gene: ENSMUSG00000071226
AA Change: E1245G

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 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: 98.8%
  • 3x: 97.8%
  • 10x: 94.5%
  • 20x: 87.0%
Validation Efficiency
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,135,081 (GRCm39) I235V probably benign Het
Acsm4 T C 7: 119,297,801 (GRCm39) I146T probably benign Het
Adgrv1 T C 13: 81,676,984 (GRCm39) N1949S probably benign Het
Afdn T C 17: 14,066,798 (GRCm39) V630A probably damaging Het
Amfr A G 8: 94,712,027 (GRCm39) V301A possibly damaging Het
Anapc16 T C 10: 59,832,279 (GRCm39) M45V probably benign Het
Ankrd12 T C 17: 66,290,375 (GRCm39) E1686G possibly damaging Het
Ap2m1 T G 16: 20,359,979 (GRCm39) H193Q probably damaging Het
Aplnr T C 2: 84,967,805 (GRCm39) W277R possibly damaging Het
Aspm C T 1: 139,406,710 (GRCm39) H1866Y possibly damaging Het
Aspm A G 1: 139,385,361 (GRCm39) E335G probably benign Het
Atp8b4 T A 2: 126,220,664 (GRCm39) D578V probably benign Het
Ccr1 T A 9: 123,763,999 (GRCm39) E177V probably benign Het
Cep162 A T 9: 87,103,255 (GRCm39) C638S probably benign Het
Ces1b A T 8: 93,794,705 (GRCm39) I298N probably benign Het
Cfap47 C T X: 78,553,507 (GRCm39) V323I possibly damaging Het
Chdh T A 14: 29,753,391 (GRCm39) L100Q probably damaging Het
Chrnd T C 1: 87,120,312 (GRCm39) I156T probably damaging Het
Clpx G A 9: 65,234,170 (GRCm39) R605Q probably null Het
Cnga1 T A 5: 72,769,526 (GRCm39) K135* probably null Het
Col6a4 A T 9: 105,940,144 (GRCm39) V1262E probably benign Het
Cracr2b T C 7: 141,043,481 (GRCm39) L53P probably damaging Het
Crhr1 T C 11: 104,065,220 (GRCm39) S372P possibly damaging Het
Cyp11b2 T A 15: 74,723,624 (GRCm39) probably null Het
Cyp21a1 T A 17: 35,021,184 (GRCm39) D373V probably damaging Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Ddah1 A T 3: 145,594,966 (GRCm39) Y242F probably benign Het
Dlgap3 A G 4: 127,088,719 (GRCm39) D105G possibly damaging Het
Dtl A G 1: 191,301,829 (GRCm39) V76A probably damaging Het
Dzank1 A G 2: 144,333,751 (GRCm39) S361P probably benign Het
Ehd3 T A 17: 74,127,538 (GRCm39) I157N probably damaging Het
Elk4 T C 1: 131,945,568 (GRCm39) F149L probably damaging Het
Eme2 G A 17: 25,111,892 (GRCm39) S263F probably damaging Het
Fam83a A G 15: 57,849,899 (GRCm39) R148G probably damaging Het
Farp2 C A 1: 93,547,873 (GRCm39) probably null Het
Fbxw25 T A 9: 109,483,709 (GRCm39) I168F possibly damaging Het
Fermt1 T C 2: 132,757,978 (GRCm39) D479G probably damaging Het
Fgf17 C A 14: 70,874,210 (GRCm39) R193L probably damaging Het
Foxred2 T G 15: 77,832,721 (GRCm39) probably null Het
Gad1 T C 2: 70,404,467 (GRCm39) V119A possibly damaging Het
Gas2l3 A G 10: 89,250,215 (GRCm39) V301A possibly damaging Het
Gimap8 G A 6: 48,633,587 (GRCm39) V469I probably benign Het
Gja1 A T 10: 56,264,065 (GRCm39) E141D probably benign Het
Glod4 C T 11: 76,112,829 (GRCm39) W268* probably null Het
Guf1 C T 5: 69,720,505 (GRCm39) H309Y probably benign Het
Hax1 A G 3: 89,903,156 (GRCm39) V215A probably damaging Het
Heatr9 T C 11: 83,409,651 (GRCm39) D107G probably benign Het
Hephl1 T A 9: 14,988,050 (GRCm39) Y686F probably benign Het
Hk3 T C 13: 55,154,843 (GRCm39) probably null Het
Ikbkb G T 8: 23,155,633 (GRCm39) Q620K possibly damaging Het
Il18rap C T 1: 40,570,682 (GRCm39) A208V probably benign Het
Kif26b T C 1: 178,743,209 (GRCm39) S1102P probably benign Het
Kif5b A T 18: 6,226,383 (GRCm39) D147E probably damaging Het
Klhl3 T C 13: 58,178,247 (GRCm39) T348A probably damaging Het
Krt10 T C 11: 99,276,746 (GRCm39) probably benign Het
Lama3 A T 18: 12,610,427 (GRCm39) H1124L probably benign Het
Lin7a A T 10: 107,247,983 (GRCm39) Q96L unknown Het
Ly6c2 T G 15: 74,982,438 (GRCm39) I37L probably benign Het
Mov10l1 A G 15: 88,895,589 (GRCm39) Y585C possibly damaging Het
Msr1 G A 8: 40,042,334 (GRCm39) Q414* probably null Het
Myh13 T C 11: 67,261,776 (GRCm39) C1900R possibly damaging Het
Obscn T A 11: 59,024,679 (GRCm39) N454Y probably damaging Het
Olfml2b T G 1: 170,508,731 (GRCm39) Y530D probably damaging Het
Or1ad1 T C 11: 50,876,194 (GRCm39) F222S probably damaging Het
Or4c11 T A 2: 88,695,697 (GRCm39) F249L probably benign Het
Or52s1b T A 7: 102,822,574 (GRCm39) H90L probably benign Het
Or5b24 A T 19: 12,912,503 (GRCm39) T134S probably benign Het
Or7e174 T A 9: 20,012,878 (GRCm39) N274K probably benign Het
Or8j3b A G 2: 86,205,265 (GRCm39) F164L probably damaging Het
Pde10a T G 17: 9,172,574 (GRCm39) V648G probably damaging Het
Pde7b T A 10: 20,294,547 (GRCm39) H258L probably damaging Het
Pik3cb A G 9: 98,946,080 (GRCm39) V582A possibly damaging Het
Plxnb1 T C 9: 108,930,091 (GRCm39) S316P probably benign Het
Pmpca C T 2: 26,282,530 (GRCm39) T246I probably damaging Het
Reep3 A T 10: 66,898,788 (GRCm39) V32D possibly damaging Het
Rfx4 A G 10: 84,699,149 (GRCm39) M252V probably damaging Het
Rnf168 C A 16: 32,117,781 (GRCm39) D447E probably damaging Het
Rnf31 T C 14: 55,834,221 (GRCm39) V518A probably damaging Het
Rnpc3 A T 3: 113,407,433 (GRCm39) L340* probably null Het
Scn2a A G 2: 65,519,085 (GRCm39) E437G probably damaging Het
Scnn1b C A 7: 121,501,711 (GRCm39) N175K possibly damaging Het
Slc39a11 T A 11: 113,138,550 (GRCm39) I344F probably benign Het
Slc9a2 T A 1: 40,758,178 (GRCm39) L239Q probably damaging Het
Smg5 T C 3: 88,262,978 (GRCm39) F794L probably damaging Het
Smim13 C T 13: 41,426,168 (GRCm39) S68L possibly damaging Het
Sos2 A T 12: 69,661,432 (GRCm39) Y680N probably damaging Het
Spag6 T A 2: 18,739,057 (GRCm39) M329K possibly damaging Het
Spire2 G A 8: 124,088,105 (GRCm39) probably null Het
Tdrd9 T A 12: 112,011,238 (GRCm39) V1149D probably benign Het
Tns3 T A 11: 8,468,261 (GRCm39) Y321F probably benign Het
Top3b T C 16: 16,698,493 (GRCm39) V112A probably benign Het
Trafd1 G A 5: 121,517,715 (GRCm39) T26I probably damaging Het
Ttc28 G A 5: 111,373,543 (GRCm39) S962N probably damaging Het
Vmn2r78 T C 7: 86,564,615 (GRCm39) L20S unknown Het
Vmn2r82 A T 10: 79,214,545 (GRCm39) D176V probably damaging Het
Vps13b T C 15: 35,923,458 (GRCm39) F3778L probably damaging Het
Vwa3b T C 1: 37,090,962 (GRCm39) probably null Het
Vwc2 C T 11: 11,104,262 (GRCm39) P265S probably damaging Het
Zbtb9 T A 17: 27,193,612 (GRCm39) I339N probably damaging Het
Zfp335 T C 2: 164,740,161 (GRCm39) T764A probably benign Het
Zfp366 T A 13: 99,383,063 (GRCm39) V742D probably damaging Het
Zfp709 A T 8: 72,644,506 (GRCm39) Y645F probably damaging Het
Zmym2 T A 14: 57,150,548 (GRCm39) C424S probably damaging Het
Other mutations in Cecr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Cecr2 APN 6 120,733,678 (GRCm39) missense probably damaging 1.00
IGL00782:Cecr2 APN 6 120,738,582 (GRCm39) missense probably benign 0.00
IGL01137:Cecr2 APN 6 120,738,989 (GRCm39) missense probably damaging 1.00
IGL01446:Cecr2 APN 6 120,735,560 (GRCm39) missense probably benign
IGL02108:Cecr2 APN 6 120,739,519 (GRCm39) critical splice donor site probably null
IGL02195:Cecr2 APN 6 120,708,367 (GRCm39) missense probably damaging 1.00
IGL02689:Cecr2 APN 6 120,739,128 (GRCm39) missense probably damaging 1.00
IGL03189:Cecr2 APN 6 120,739,391 (GRCm39) missense probably benign 0.13
PIT1430001:Cecr2 UTSW 6 120,735,440 (GRCm39) missense probably benign 0.01
R0200:Cecr2 UTSW 6 120,738,758 (GRCm39) missense probably damaging 1.00
R0586:Cecr2 UTSW 6 120,734,845 (GRCm39) missense probably damaging 1.00
R0715:Cecr2 UTSW 6 120,735,159 (GRCm39) missense probably benign 0.21
R0784:Cecr2 UTSW 6 120,735,110 (GRCm39) missense possibly damaging 0.74
R1185:Cecr2 UTSW 6 120,735,166 (GRCm39) nonsense probably null
R1185:Cecr2 UTSW 6 120,735,166 (GRCm39) nonsense probably null
R1185:Cecr2 UTSW 6 120,735,166 (GRCm39) nonsense probably null
R1343:Cecr2 UTSW 6 120,731,672 (GRCm39) missense probably damaging 0.99
R1349:Cecr2 UTSW 6 120,734,564 (GRCm39) missense probably damaging 0.99
R1438:Cecr2 UTSW 6 120,738,433 (GRCm39) nonsense probably null
R1602:Cecr2 UTSW 6 120,732,548 (GRCm39) missense possibly damaging 0.52
R1664:Cecr2 UTSW 6 120,738,987 (GRCm39) missense probably damaging 0.96
R1731:Cecr2 UTSW 6 120,735,141 (GRCm39) missense possibly damaging 0.74
R1817:Cecr2 UTSW 6 120,708,228 (GRCm39) missense probably damaging 1.00
R1818:Cecr2 UTSW 6 120,708,228 (GRCm39) missense probably damaging 1.00
R1819:Cecr2 UTSW 6 120,708,228 (GRCm39) missense probably damaging 1.00
R1862:Cecr2 UTSW 6 120,734,902 (GRCm39) missense probably damaging 1.00
R1907:Cecr2 UTSW 6 120,738,121 (GRCm39) missense probably benign 0.03
R1911:Cecr2 UTSW 6 120,739,526 (GRCm39) unclassified probably benign
R2135:Cecr2 UTSW 6 120,697,923 (GRCm39) missense probably damaging 1.00
R2273:Cecr2 UTSW 6 120,733,702 (GRCm39) missense probably benign 0.00
R2275:Cecr2 UTSW 6 120,733,702 (GRCm39) missense probably benign 0.00
R3713:Cecr2 UTSW 6 120,735,221 (GRCm39) missense probably damaging 1.00
R4271:Cecr2 UTSW 6 120,739,436 (GRCm39) missense probably damaging 1.00
R4706:Cecr2 UTSW 6 120,732,539 (GRCm39) missense possibly damaging 0.73
R4873:Cecr2 UTSW 6 120,727,877 (GRCm39) missense probably damaging 0.99
R4875:Cecr2 UTSW 6 120,727,877 (GRCm39) missense probably damaging 0.99
R5137:Cecr2 UTSW 6 120,732,478 (GRCm39) missense probably benign
R5153:Cecr2 UTSW 6 120,711,521 (GRCm39) missense probably benign 0.03
R5377:Cecr2 UTSW 6 120,733,530 (GRCm39) missense possibly damaging 0.87
R5598:Cecr2 UTSW 6 120,708,407 (GRCm39) splice site probably null
R5651:Cecr2 UTSW 6 120,732,521 (GRCm39) missense probably damaging 0.96
R5680:Cecr2 UTSW 6 120,738,387 (GRCm39) missense probably benign
R5813:Cecr2 UTSW 6 120,739,169 (GRCm39) missense probably damaging 0.99
R5970:Cecr2 UTSW 6 120,697,868 (GRCm39) missense probably damaging 0.98
R6255:Cecr2 UTSW 6 120,735,011 (GRCm39) missense probably damaging 1.00
R6266:Cecr2 UTSW 6 120,738,647 (GRCm39) missense probably benign
R6630:Cecr2 UTSW 6 120,739,139 (GRCm39) missense probably damaging 1.00
R6737:Cecr2 UTSW 6 120,714,084 (GRCm39) missense possibly damaging 0.86
R6754:Cecr2 UTSW 6 120,734,539 (GRCm39) missense probably damaging 0.98
R6807:Cecr2 UTSW 6 120,711,503 (GRCm39) splice site probably null
R7187:Cecr2 UTSW 6 120,733,647 (GRCm39) missense probably benign
R7256:Cecr2 UTSW 6 120,739,490 (GRCm39) missense probably benign
R7282:Cecr2 UTSW 6 120,738,582 (GRCm39) missense
R7548:Cecr2 UTSW 6 120,738,675 (GRCm39) missense
R7596:Cecr2 UTSW 6 120,739,167 (GRCm39) missense probably benign
R7802:Cecr2 UTSW 6 120,720,808 (GRCm39) missense probably benign 0.45
R8112:Cecr2 UTSW 6 120,739,175 (GRCm39) missense probably benign 0.00
R8289:Cecr2 UTSW 6 120,735,077 (GRCm39) missense probably benign 0.24
R8294:Cecr2 UTSW 6 120,710,747 (GRCm39) missense probably damaging 0.99
R8470:Cecr2 UTSW 6 120,733,894 (GRCm39) missense probably benign 0.21
R8697:Cecr2 UTSW 6 120,710,779 (GRCm39) missense probably damaging 1.00
R8887:Cecr2 UTSW 6 120,715,162 (GRCm39) missense probably damaging 1.00
R9371:Cecr2 UTSW 6 120,739,229 (GRCm39) missense probably benign 0.01
R9416:Cecr2 UTSW 6 120,735,538 (GRCm39) missense
R9477:Cecr2 UTSW 6 120,720,743 (GRCm39) critical splice acceptor site probably null
R9588:Cecr2 UTSW 6 120,733,770 (GRCm39) missense possibly damaging 0.87
X0012:Cecr2 UTSW 6 120,710,735 (GRCm39) missense probably damaging 0.99
X0063:Cecr2 UTSW 6 120,739,032 (GRCm39) missense probably benign 0.01
Z1177:Cecr2 UTSW 6 120,697,923 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAATGAGATATTCCTACCAGCCGCC -3'
(R):5'- CCATCATCGAAGCCTGAAAGTGACC -3'

Sequencing Primer
(F):5'- GGACTCCTTATTATACATGTCCACAG -3'
(R):5'- TATGCCCTGGGCTGAAAATGAC -3'
Posted On 2014-03-14