Incidental Mutation 'R5137:Eya2'
ID 396189
Institutional Source Beutler Lab
Gene Symbol Eya2
Ensembl Gene ENSMUSG00000017897
Gene Name EYA transcriptional coactivator and phosphatase 2
Synonyms
MMRRC Submission 042723-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.830) question?
Stock # R5137 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 165436952-165613647 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 165573548 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 288 (Y288H)
Ref Sequence ENSEMBL: ENSMUSP00000085455 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063433] [ENSMUST00000088132]
AlphaFold O08575
Predicted Effect probably damaging
Transcript: ENSMUST00000063433
AA Change: Y288H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000066244
Gene: ENSMUSG00000017897
AA Change: Y288H

DomainStartEndE-ValueType
low complexity region 73 88 N/A INTRINSIC
low complexity region 184 195 N/A INTRINSIC
PDB:4EGC|B 247 532 N/A PDB
SCOP:d1lvha_ 367 511 3e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000088132
AA Change: Y288H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000085455
Gene: ENSMUSG00000017897
AA Change: Y288H

DomainStartEndE-ValueType
low complexity region 73 88 N/A INTRINSIC
low complexity region 184 195 N/A INTRINSIC
Pfam:Hydrolase 262 508 1.5e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150638
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the eyes absent protein family. The encoded protein is a tyrosine phosphatase which acts as a transcriptional activator during development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
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
Cecr2 A G 6: 120,732,478 (GRCm39) I225V probably benign 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
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 Eya2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00987:Eya2 APN 2 165,596,401 (GRCm39) missense probably damaging 1.00
IGL02368:Eya2 APN 2 165,605,638 (GRCm39) missense probably damaging 1.00
IGL02465:Eya2 APN 2 165,557,872 (GRCm39) missense possibly damaging 0.89
IGL02523:Eya2 APN 2 165,596,356 (GRCm39) splice site probably benign
Needle UTSW 2 165,605,736 (GRCm39) missense probably damaging 1.00
R0048:Eya2 UTSW 2 165,557,931 (GRCm39) missense probably damaging 1.00
R0167:Eya2 UTSW 2 165,558,032 (GRCm39) missense possibly damaging 0.89
R0479:Eya2 UTSW 2 165,557,876 (GRCm39) nonsense probably null
R0600:Eya2 UTSW 2 165,611,157 (GRCm39) missense probably damaging 1.00
R0909:Eya2 UTSW 2 165,596,413 (GRCm39) missense probably benign 0.28
R1251:Eya2 UTSW 2 165,596,404 (GRCm39) missense probably damaging 1.00
R1332:Eya2 UTSW 2 165,529,528 (GRCm39) splice site probably benign
R1725:Eya2 UTSW 2 165,566,605 (GRCm39) missense probably benign
R1729:Eya2 UTSW 2 165,529,583 (GRCm39) missense probably damaging 1.00
R1730:Eya2 UTSW 2 165,529,583 (GRCm39) missense probably damaging 1.00
R1739:Eya2 UTSW 2 165,529,583 (GRCm39) missense probably damaging 1.00
R1765:Eya2 UTSW 2 165,566,723 (GRCm39) missense probably damaging 0.99
R1879:Eya2 UTSW 2 165,506,726 (GRCm39) missense probably benign
R1969:Eya2 UTSW 2 165,558,039 (GRCm39) missense probably benign 0.00
R2430:Eya2 UTSW 2 165,558,050 (GRCm39) critical splice donor site probably null
R4285:Eya2 UTSW 2 165,566,700 (GRCm39) missense probably benign 0.01
R5574:Eya2 UTSW 2 165,605,736 (GRCm39) missense probably damaging 1.00
R5739:Eya2 UTSW 2 165,603,857 (GRCm39) missense probably damaging 1.00
R5943:Eya2 UTSW 2 165,566,609 (GRCm39) missense probably damaging 0.99
R6259:Eya2 UTSW 2 165,558,019 (GRCm39) missense probably benign 0.00
R6477:Eya2 UTSW 2 165,605,681 (GRCm39) missense probably benign
R6736:Eya2 UTSW 2 165,557,957 (GRCm39) missense possibly damaging 0.80
R7347:Eya2 UTSW 2 165,529,586 (GRCm39) missense probably benign 0.00
R7524:Eya2 UTSW 2 165,611,246 (GRCm39) critical splice donor site probably null
R7563:Eya2 UTSW 2 165,558,050 (GRCm39) critical splice donor site probably null
R7612:Eya2 UTSW 2 165,529,657 (GRCm39) critical splice donor site probably null
R8420:Eya2 UTSW 2 165,608,988 (GRCm39) missense probably damaging 1.00
R9140:Eya2 UTSW 2 165,608,977 (GRCm39) missense probably damaging 1.00
R9279:Eya2 UTSW 2 165,529,631 (GRCm39) missense probably benign 0.19
Z1177:Eya2 UTSW 2 165,527,513 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCACAAATGGGGTTCAGCG -3'
(R):5'- TGGGCACACAGTTCCACTTG -3'

Sequencing Primer
(F):5'- GCACGGTGTGGGTCCCC -3'
(R):5'- TGGGTAAAGGCATCCACTGTC -3'
Posted On 2016-06-21