Incidental Mutation 'R8112:Cecr2'
ID 630923
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 067541-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8112 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 120643330-120748151 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120739175 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1301 (S1301P)
Ref Sequence ENSEMBL: ENSMUSP00000098556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100993] [ENSMUST00000112686]
AlphaFold E9Q2Z1
Predicted Effect probably benign
Transcript: ENSMUST00000100993
AA Change: S1301P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000098556
Gene: ENSMUSG00000071226
AA Change: S1301P

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 benign
Transcript: ENSMUST00000112686
AA Change: S1273P

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000108306
Gene: ENSMUSG00000071226
AA Change: S1273P

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: 99.8%
  • 3x: 99.6%
  • 10x: 98.5%
  • 20x: 95.0%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,264,624 (GRCm39) V3002A probably benign Het
Aifm3 T C 16: 17,320,804 (GRCm39) V422A probably damaging Het
Alx3 G T 3: 107,512,300 (GRCm39) E313* probably null Het
Arfgef3 A G 10: 18,528,379 (GRCm39) V336A possibly damaging Het
Art5 A T 7: 101,747,218 (GRCm39) V187E probably benign Het
Atxn1 A G 13: 45,721,433 (GRCm39) V154A probably benign Het
B3galt1 A G 2: 67,948,702 (GRCm39) D139G probably damaging Het
Cbx5 A G 15: 103,108,171 (GRCm39) V158A probably benign Het
Cdca7l T C 12: 117,840,779 (GRCm39) probably null Het
Chmp3 T A 6: 71,538,012 (GRCm39) S80T probably benign Het
Cyp2g1 T A 7: 26,518,886 (GRCm39) D427E probably benign Het
Depdc5 G A 5: 33,126,050 (GRCm39) V1199I possibly damaging Het
Efcab3 T C 11: 104,841,026 (GRCm39) V3643A unknown Het
Ehmt1 G T 2: 24,753,396 (GRCm39) L335M probably damaging Het
Elfn2 A G 15: 78,557,635 (GRCm39) V304A probably damaging Het
Emc1 C T 4: 139,094,498 (GRCm39) R684W probably benign Het
Eme2 A T 17: 25,113,809 (GRCm39) V72E probably damaging Het
Gen1 T A 12: 11,304,374 (GRCm39) K230* probably null Het
Gfap T A 11: 102,787,928 (GRCm39) I6F probably benign Het
Grid2 T C 6: 63,885,891 (GRCm39) S96P probably damaging Het
H2-M2 A G 17: 37,794,383 (GRCm39) L13P unknown Het
Hps4 T G 5: 112,517,977 (GRCm39) C323W probably benign Het
Ing3 A G 6: 21,952,181 (GRCm39) K52E probably damaging Het
Ippk C T 13: 49,599,818 (GRCm39) P226S Het
Klhl3 C T 13: 58,161,677 (GRCm39) V473M possibly damaging Het
Krt4 T A 15: 101,828,724 (GRCm39) N380I probably damaging Het
Lrp1 A T 10: 127,441,715 (GRCm39) C174S probably damaging Het
Lrrc8e T C 8: 4,285,575 (GRCm39) I600T probably benign Het
Malt1 T C 18: 65,582,680 (GRCm39) probably null Het
Mindy1 T C 3: 95,202,122 (GRCm39) L333P probably damaging Het
Mrgprb1 A G 7: 48,097,682 (GRCm39) S77P probably damaging Het
Mtus2 G T 5: 148,013,713 (GRCm39) E169* probably null Het
Muc5b A G 7: 141,415,765 (GRCm39) T2904A possibly damaging Het
Noxa1 C T 2: 24,982,553 (GRCm39) probably null Het
Ogfod3 G A 11: 121,095,376 (GRCm39) R5W probably damaging Het
Or4f59 T A 2: 111,872,982 (GRCm39) I132F probably damaging Het
Or7g35 T A 9: 19,496,020 (GRCm39) F62L probably benign Het
Or9i16 A G 19: 13,864,753 (GRCm39) S274P probably damaging Het
Pgm3 C A 9: 86,446,828 (GRCm39) R230L probably benign Het
Plpbp A G 8: 27,536,069 (GRCm39) I121V unknown Het
Prl8a9 T C 13: 27,743,355 (GRCm39) D150G probably benign Het
Psapl1 A G 5: 36,362,919 (GRCm39) N504D probably benign Het
Ptchd4 A C 17: 42,814,066 (GRCm39) N656H probably benign Het
Ptprs A T 17: 56,741,532 (GRCm39) Y577* probably null Het
Rasgef1c A G 11: 49,858,228 (GRCm39) Y263C probably damaging Het
Rinl A G 7: 28,490,014 (GRCm39) probably null Het
Scd4 T C 19: 44,325,945 (GRCm39) F100L probably benign Het
Scgb2b20 T G 7: 33,063,969 (GRCm39) R100S probably benign Het
Scn8a C T 15: 100,927,718 (GRCm39) A1399V probably benign Het
Slc22a7 A G 17: 46,747,756 (GRCm39) V267A probably benign Het
Slc7a11 T C 3: 50,372,440 (GRCm39) E263G possibly damaging Het
Slmap A G 14: 26,143,703 (GRCm39) L728P probably damaging Het
Smarcb1 A T 10: 75,745,986 (GRCm39) probably null Het
Sspn T C 6: 145,901,361 (GRCm39) V80A possibly damaging Het
Tasor2 A T 13: 3,619,516 (GRCm39) D2238E probably damaging Het
Terb1 T C 8: 105,195,399 (GRCm39) T581A probably benign Het
Themis A G 10: 28,673,502 (GRCm39) *596W probably null Het
Thoc2l T C 5: 104,669,501 (GRCm39) F1341S probably benign Het
Trac T C 14: 54,460,557 (GRCm39) probably benign Het
Trim37 T C 11: 87,109,093 (GRCm39) F940S possibly damaging Het
Trpa1 T C 1: 14,974,490 (GRCm39) T231A probably benign Het
Ttn T C 2: 76,580,529 (GRCm39) I23455V probably benign Het
Wap G T 11: 6,586,724 (GRCm39) T125K probably benign Het
Wdfy4 G A 14: 32,826,072 (GRCm39) P1193L Het
Zfp85 T C 13: 67,896,893 (GRCm39) D393G possibly 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
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
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'- CCTTAACTTCTCCAACTCAAATGG -3'
(R):5'- AGCCTGAAAGTGACCTAGGC -3'

Sequencing Primer
(F):5'- CCAACTCAAATGGATGTAGTGACTGC -3'
(R):5'- TCTTCCTGACAGCAGTAGAGG -3'
Posted On 2020-06-30