Incidental Mutation 'R7282:Cecr2'
ID 565727
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7282 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 120643330-120748151 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 120738582 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 325 (N325I)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100993] [ENSMUST00000112686]
AlphaFold E9Q2Z1
Predicted Effect possibly damaging
Transcript: ENSMUST00000100993
AA Change: N1103I

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000098556
Gene: ENSMUSG00000071226
AA Change: N1103I

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 possibly damaging
Transcript: ENSMUST00000112686
AA Change: N1075I

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000108306
Gene: ENSMUSG00000071226
AA Change: N1075I

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
SMART Domains Protein: ENSMUSP00000116993
Gene: ENSMUSG00000071226
AA Change: N325I

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik C A 11: 58,316,582 (GRCm39) D187E probably damaging Het
Abl2 T C 1: 156,457,630 (GRCm39) Y299H probably damaging Het
Acsl3 T A 1: 78,659,709 (GRCm39) N120K probably damaging Het
Aldh1a1 A G 19: 20,606,434 (GRCm39) K255R possibly damaging Het
Baz2b C T 2: 59,750,781 (GRCm39) R1205H probably benign Het
Btbd8 G T 5: 107,655,062 (GRCm39) V954L probably benign Het
Btbd8 A G 5: 107,658,371 (GRCm39) D1647G probably damaging Het
Carmil1 A G 13: 24,197,387 (GRCm39) S1350P probably benign Het
Cep120 C T 18: 53,873,161 (GRCm39) A57T probably damaging Het
Chst8 T C 7: 34,447,628 (GRCm39) probably null Het
Cntn4 A T 6: 106,502,421 (GRCm39) I393F probably damaging Het
Crocc T C 4: 140,749,652 (GRCm39) D1494G probably damaging Het
Cwc25 T C 11: 97,638,832 (GRCm39) E364G possibly damaging Het
Dnah7a C A 1: 53,724,059 (GRCm39) probably null Het
Drg2 A G 11: 60,345,519 (GRCm39) E5G probably benign Het
Ehd4 T C 2: 119,921,729 (GRCm39) H509R probably damaging Het
Enam A T 5: 88,650,186 (GRCm39) N565I probably damaging Het
Evi2a G T 11: 79,418,249 (GRCm39) N120K probably benign Het
Faim A G 9: 98,874,179 (GRCm39) T2A probably benign Het
Fcgbpl1 A G 7: 27,843,833 (GRCm39) N907S probably benign Het
Fmnl1 T C 11: 103,087,091 (GRCm39) V836A unknown Het
Fosb T C 7: 19,039,113 (GRCm39) I224V possibly damaging Het
Frem3 A T 8: 81,338,660 (GRCm39) T318S probably damaging Het
Gm9972 G A 11: 42,927,631 (GRCm39) G93R unknown Het
Gtf2a1 A T 12: 91,534,609 (GRCm39) I215N possibly damaging Het
Hs3st3b1 A G 11: 63,812,397 (GRCm39) V106A probably benign Het
Igkv19-93 T C 6: 68,713,485 (GRCm39) D48G probably benign Het
Itgb8 A T 12: 119,201,443 (GRCm39) W31R probably benign Het
Kmt2d A T 15: 98,751,985 (GRCm39) W1995R unknown Het
Lama3 G T 18: 12,572,449 (GRCm39) Q551H probably damaging Het
Lama5 T C 2: 179,843,588 (GRCm39) Y453C probably damaging Het
Lbhd2 G A 12: 111,376,724 (GRCm39) R57H probably damaging Het
Lcmt2 A G 2: 120,969,271 (GRCm39) V384A probably damaging Het
Lgsn T G 1: 31,242,452 (GRCm39) L178R probably damaging Het
Lhcgr C T 17: 89,065,811 (GRCm39) V193I probably benign Het
Lta4h T C 10: 93,289,373 (GRCm39) M1T probably null Het
Ly6l T C 15: 75,321,345 (GRCm39) S14P probably damaging Het
Met C A 6: 17,547,011 (GRCm39) C881* probably null Het
Mettl21e A T 1: 44,249,399 (GRCm39) Y86N probably damaging Het
Mgam A G 6: 40,740,045 (GRCm39) T1673A probably benign Het
Mgam A T 6: 40,633,446 (GRCm39) N251Y possibly damaging Het
Mmp27 T A 9: 7,578,231 (GRCm39) V357D probably damaging Het
Muc2 A G 7: 141,306,481 (GRCm39) E740G Het
Myoc C A 1: 162,476,413 (GRCm39) S372R probably benign Het
Ncor2 A T 5: 125,097,104 (GRCm39) M1358K Het
Nol6 A G 4: 41,119,468 (GRCm39) S613P probably benign Het
Nuggc T A 14: 65,855,072 (GRCm39) I334N probably damaging Het
Nxnl2 C T 13: 51,325,542 (GRCm39) P62S probably damaging Het
Ogfod1 C T 8: 94,764,067 (GRCm39) H51Y possibly damaging Het
Olfml1 T A 7: 107,189,530 (GRCm39) D198E possibly damaging Het
Or2t26 A C 11: 49,039,945 (GRCm39) N287T probably damaging Het
Ovch2 C T 7: 107,393,577 (GRCm39) R183H possibly damaging Het
Plxnd1 A T 6: 115,937,798 (GRCm39) L1516Q probably damaging Het
Pramel27 A G 4: 143,578,451 (GRCm39) N237S possibly damaging Het
Prrc2c A G 1: 162,507,543 (GRCm39) V2448A possibly damaging Het
Rexo5 C T 7: 119,417,636 (GRCm39) T212I probably damaging Het
Rgl2 C T 17: 34,152,403 (GRCm39) R367W probably damaging Het
Rnf213 T G 11: 119,328,818 (GRCm39) I2030S Het
Rtf1 C T 2: 119,505,580 (GRCm39) A11V unknown Het
Setdb1 T G 3: 95,245,985 (GRCm39) T647P probably damaging Het
Shisa6 G C 11: 66,393,480 (GRCm39) P272R possibly damaging Het
Slc25a54 G T 3: 109,023,817 (GRCm39) G471* probably null Het
Slc30a1 A G 1: 191,641,544 (GRCm39) T397A probably benign Het
Slc7a14 A G 3: 31,281,302 (GRCm39) F336S possibly damaging Het
Slitrk3 C T 3: 72,957,798 (GRCm39) V325I possibly damaging Het
Sptan1 A G 2: 29,876,941 (GRCm39) Y361C probably damaging Het
Stard9 A G 2: 120,528,984 (GRCm39) D1747G probably benign Het
Taf3 T C 2: 9,956,253 (GRCm39) E638G probably damaging Het
Tbc1d8 T C 1: 39,411,614 (GRCm39) D1074G probably benign Het
Tecrl G A 5: 83,502,754 (GRCm39) H32Y probably benign Het
Tgm3 T A 2: 129,866,481 (GRCm39) M133K probably benign Het
Tmem131 A G 1: 36,880,685 (GRCm39) F195S probably damaging Het
Tmem82 T C 4: 141,342,261 (GRCm39) I314V possibly damaging Het
Trappc10 T C 10: 78,043,327 (GRCm39) E555G probably damaging Het
Ubn2 A T 6: 38,429,811 (GRCm39) K176* probably null Het
Ucp1 G A 8: 84,020,531 (GRCm39) G114R probably benign Het
Unc5c A G 3: 141,383,751 (GRCm39) D43G probably damaging Het
Vmn2r3 C T 3: 64,168,825 (GRCm39) V571M possibly damaging Het
Vwa3a A T 7: 120,385,688 (GRCm39) I677L probably benign Het
Wdr48 T C 9: 119,740,147 (GRCm39) S319P 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
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
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'- AATCTACCTGAAAATGGGGTCG -3'
(R):5'- ATCTCATTCCCTGCTGAGGAC -3'

Sequencing Primer
(F):5'- GTCGTTGGTGAAGCATCTCCC -3'
(R):5'- ATTCCCTGCTGAGGACGGTAC -3'
Posted On 2019-06-26