Incidental Mutation 'IGL00435:Cecr2'
ID 5382
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cecr2
Ensembl Gene ENSMUSG00000071226
Gene Name CECR2, histone acetyl-lysine reader
Synonyms cat eye syndrome chromosome region, candidate 2, Gtl4, 2610101O16Rik, 2810409N01Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00435
Quality Score
Status
Chromosome 6
Chromosomal Location 120643330-120748151 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 120733678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 555 (T555M)
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: T555M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098556
Gene: ENSMUSG00000071226
AA Change: T555M

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: T555M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108306
Gene: ENSMUSG00000071226
AA Change: T555M

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
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap28 A T 17: 68,152,796 (GRCm39) D657E probably damaging Het
Cd200l1 A T 16: 45,264,483 (GRCm39) L25Q probably damaging Het
Cd68 T C 11: 69,556,676 (GRCm39) T44A probably damaging Het
Cep170b A G 12: 112,701,628 (GRCm39) Q169R probably damaging Het
Cs T C 10: 128,195,912 (GRCm39) F374L probably damaging Het
Dpy19l1 T C 9: 24,393,226 (GRCm39) E181G probably damaging Het
Efcab12 T C 6: 115,800,625 (GRCm39) T133A probably benign Het
Esr2 G A 12: 76,180,653 (GRCm39) R423W probably damaging Het
Eya4 T C 10: 23,034,995 (GRCm39) Y120C probably benign Het
Fbxw8 A G 5: 118,206,202 (GRCm39) M582T probably benign Het
Fcgbpl1 A T 7: 27,863,953 (GRCm39) D2575V probably damaging Het
Ghsr A G 3: 27,426,532 (GRCm39) E196G possibly damaging Het
Gm10024 G A 10: 77,547,295 (GRCm39) probably benign Het
Gpr65 A G 12: 98,241,815 (GRCm39) E156G probably damaging Het
Gtf3c3 T C 1: 54,466,694 (GRCm39) Y249C possibly damaging Het
H2-T23 G A 17: 36,342,673 (GRCm39) A155V probably damaging Het
Hadha A G 5: 30,327,171 (GRCm39) S556P probably benign Het
Hdac7 T A 15: 97,707,376 (GRCm39) K187N probably damaging Het
Inpp5j T C 11: 3,452,255 (GRCm39) I332V probably benign Het
Kank1 A G 19: 25,407,600 (GRCm39) D1198G probably benign Het
Kdr A G 5: 76,129,410 (GRCm39) L159P probably damaging Het
Me2 T C 18: 73,903,713 (GRCm39) E585G probably benign Het
Nfu1 A T 6: 86,992,577 (GRCm39) T64S probably damaging Het
Nsd3 A G 8: 26,166,728 (GRCm39) D632G probably benign Het
Pcna T C 2: 132,093,852 (GRCm39) D97G probably benign Het
Pgm2 A G 5: 64,265,612 (GRCm39) probably benign Het
Phactr1 C A 13: 43,110,122 (GRCm39) R2S probably damaging Het
Psmd11 T A 11: 80,361,210 (GRCm39) I347N possibly damaging Het
Rad21l T C 2: 151,495,436 (GRCm39) T416A probably benign Het
Ruvbl2 A T 7: 45,074,596 (GRCm39) S181T probably benign Het
Rxrb A G 17: 34,253,049 (GRCm39) T109A probably damaging Het
Ryr3 T A 2: 112,490,494 (GRCm39) Y3785F probably damaging Het
Sec16a T C 2: 26,320,113 (GRCm39) T1442A probably benign Het
Slc6a14 T A X: 21,600,363 (GRCm39) probably benign Het
Slco2b1 G A 7: 99,309,259 (GRCm39) Q691* probably null Het
Tent5c A G 3: 100,380,672 (GRCm39) V28A probably damaging Het
Them5 A G 3: 94,253,496 (GRCm39) T169A possibly damaging Het
Trav13-2 T C 14: 53,872,688 (GRCm39) F55L possibly damaging Het
Tst A T 15: 78,289,661 (GRCm39) S125T probably damaging Het
Ttn T C 2: 76,630,868 (GRCm39) T14179A probably benign Het
Vps37b A G 5: 124,148,850 (GRCm39) Y62H probably damaging Het
Other mutations in Cecr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R1386:Cecr2 UTSW 6 120,739,092 (GRCm39) missense probably damaging 1.00
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
Posted On 2012-04-20