Incidental Mutation 'R5137:Cecr2'
ID 475466
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 042723-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5137 (G1)
Quality Score 210
Status Not validated
Chromosome 6
Chromosomal Location 120643330-120748151 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120732478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 225 (I225V)
Ref Sequence ENSEMBL: ENSMUSP00000118542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100993] [ENSMUST00000112686] [ENSMUST00000129803]
AlphaFold E9Q2Z1
Predicted Effect probably benign
Transcript: ENSMUST00000100993
AA Change: I457V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000098556
Gene: ENSMUSG00000071226
AA Change: I457V

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: I457V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108306
Gene: ENSMUSG00000071226
AA Change: I457V

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
AA Change: I225V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000118542
Gene: ENSMUSG00000071226
AA Change: I225V

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: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 T C 3: 36,123,920 (GRCm39) V75A probably benign Het
Ace G C 11: 105,865,652 (GRCm39) W628C probably damaging Het
Adh4 T C 3: 138,127,996 (GRCm39) S141P probably benign Het
Apob T C 12: 8,061,384 (GRCm39) Y3256H possibly damaging Het
B3galnt1 G T 3: 69,482,282 (GRCm39) N326K probably benign Het
Bltp3a T G 17: 28,095,964 (GRCm39) probably null Het
Catsperb T C 12: 101,516,070 (GRCm39) F569L probably damaging Het
Cox5b A G 1: 36,731,510 (GRCm39) probably null Het
Crybg1 T C 10: 43,834,332 (GRCm39) D1953G probably damaging Het
Dnaaf5 C T 5: 139,167,215 (GRCm39) T707M probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Ebf1 G A 11: 44,882,295 (GRCm39) R409Q probably damaging Het
Eef2k G A 7: 120,484,645 (GRCm39) A256T probably damaging Het
Eef2k C A 7: 120,484,646 (GRCm39) A256D probably damaging Het
Evl C G 12: 108,647,781 (GRCm39) T294S probably benign Het
Eya2 T C 2: 165,573,548 (GRCm39) Y288H probably damaging Het
Ezh2 A T 6: 47,509,014 (GRCm39) probably null Het
Fam171a1 T C 2: 3,226,426 (GRCm39) Y395H probably benign Het
Gas2l3 C A 10: 89,249,837 (GRCm39) R427L probably damaging Het
Gli2 T A 1: 118,783,233 (GRCm39) I91F probably damaging Het
Gm4884 T C 7: 40,692,318 (GRCm39) S96P probably damaging Het
Gprc5d T A 6: 135,093,031 (GRCm39) D292V probably benign Het
Herc1 A G 9: 66,355,505 (GRCm39) K2252R probably benign Het
Il1rl1 A T 1: 40,489,285 (GRCm39) M346L probably benign Het
Kcna5 A T 6: 126,510,946 (GRCm39) V394D probably damaging Het
Kcng4 A T 8: 120,352,617 (GRCm39) M431K possibly damaging Het
Kifbp A T 10: 62,414,020 (GRCm39) V46E probably damaging Het
Large1 A G 8: 73,774,937 (GRCm39) F258L possibly damaging Het
Mapkbp1 T A 2: 119,852,662 (GRCm39) C1001S probably damaging Het
Micu1 A G 10: 59,663,054 (GRCm39) Q328R probably benign Het
Mmp11 G A 10: 75,761,290 (GRCm39) P437S probably damaging Het
Msh6 T A 17: 88,287,716 (GRCm39) F119I possibly damaging Het
Myo6 A G 9: 80,149,531 (GRCm39) E159G probably damaging Het
Negr1 T A 3: 156,721,833 (GRCm39) Y136N probably damaging Het
Nol9 T A 4: 152,130,428 (GRCm39) C321S probably damaging Het
Nos1 T C 5: 118,043,378 (GRCm39) F551S probably benign Het
Nup153 C A 13: 46,837,629 (GRCm39) G1198C probably damaging Het
Omd T C 13: 49,743,552 (GRCm39) S201P probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or1e35 T C 11: 73,797,452 (GRCm39) I289V probably damaging Het
Or4c120 C A 2: 89,000,744 (GRCm39) V271F probably benign Het
Or51l14 A G 7: 103,100,919 (GRCm39) Y125C probably damaging Het
Or51l14 C A 7: 103,100,920 (GRCm39) Y125* probably null Het
Oxct1 G T 15: 4,064,832 (GRCm39) A57S probably benign Het
Pcdhga7 T G 18: 37,850,433 (GRCm39) S813R probably damaging Het
Pcmtd2 A T 2: 181,496,787 (GRCm39) I255F possibly damaging Het
Pdk1 T G 2: 71,713,913 (GRCm39) M186R possibly damaging Het
Pelp1 T C 11: 70,285,925 (GRCm39) T648A probably damaging Het
Phldb2 A T 16: 45,628,621 (GRCm39) S570R possibly damaging Het
Pramel16 T A 4: 143,675,690 (GRCm39) T379S probably benign Het
Ptprj T C 2: 90,299,992 (GRCm39) T270A possibly damaging Het
Reln C T 5: 22,160,179 (GRCm39) G2130D probably damaging Het
Rims1 A T 1: 22,358,844 (GRCm39) Y663* probably null Het
Rit2 T C 18: 31,286,817 (GRCm39) T123A probably benign Het
Rmdn2 A T 17: 79,975,418 (GRCm39) E302D probably benign Het
Ryr1 T C 7: 28,801,283 (GRCm39) E827G possibly damaging Het
Siglec1 C T 2: 130,923,264 (GRCm39) G494R probably damaging Het
Slc16a14 T A 1: 84,890,318 (GRCm39) Y329F probably damaging Het
Slc35d1 A T 4: 103,071,978 (GRCm39) L8Q possibly damaging Het
Smpdl3a C T 10: 57,677,163 (GRCm39) S57L possibly damaging Het
Snx9 T C 17: 5,978,528 (GRCm39) V566A probably damaging Het
Spaca1 A T 4: 34,029,095 (GRCm39) I126N probably damaging Het
Spred1 T G 2: 116,994,052 (GRCm39) I94S probably damaging Het
Tardbp T C 4: 148,706,494 (GRCm39) D105G possibly damaging Het
Tet2 T C 3: 133,182,326 (GRCm39) S1213G probably benign Het
Trak1 A T 9: 121,196,121 (GRCm39) probably benign Het
Trem3 G A 17: 48,556,756 (GRCm39) V76M possibly damaging Het
Ttc13 G T 8: 125,421,674 (GRCm39) Y250* probably null Het
Ttll5 T G 12: 85,969,819 (GRCm39) S714R possibly damaging Het
Ube2l6 T G 2: 84,633,220 (GRCm39) probably null Het
Ubr3 T C 2: 69,803,679 (GRCm39) S1090P probably damaging Het
Vezt T C 10: 93,806,372 (GRCm39) T680A probably benign Het
Virma A G 4: 11,546,297 (GRCm39) K1762E probably damaging Het
Vps53 A G 11: 76,057,074 (GRCm39) S57P probably damaging Het
Vwa7 G T 17: 35,236,822 (GRCm39) D130Y probably damaging Het
Vwa8 T G 14: 79,302,342 (GRCm39) F1004V probably damaging Het
Zfp35 A T 18: 24,137,194 (GRCm39) K513* probably null Het
Zfp384 ACAGCAGCAGCAGCAGCAGCAGC ACAGCAGCAGCAGCAGCAGC 6: 125,013,472 (GRCm39) probably benign Het
Zfp521 C A 18: 13,978,505 (GRCm39) C636F 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
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'- GCGGCATGCAGTTAATTGG -3'
(R):5'- TGGACTATAGCAACTCCATCTCAAAAG -3'

Sequencing Primer
(F):5'- CGGCATGCAGTTAATTGGTTTTATC -3'
(R):5'- ACTCCATCTCAAAAGAGAAGAGAG -3'
Posted On 2017-04-24