Mutagenetix > Incidental Mutation

Incidental Mutation 'R0600:Eya2'

55276

Institutional Source

Beutler Lab

Gene Symbol

Eya2

Ensembl Gene

ENSMUSG00000017897

Gene Name

EYA transcriptional coactivator and phosphatase 2

Synonyms

MMRRC Submission

038789-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.753) question?

Stock #

R0600 (G1)

Quality Score

139

Status

Validated

Chromosome

Chromosomal Location

165436952-165613647 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 165611157 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 477 (C477Y)

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: C477Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000066244
Gene: ENSMUSG00000017897
AA Change: C477Y

Domain	Start	End	E-Value	Type
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: C477Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000085455
Gene: ENSMUSG00000017897
AA Change: C477Y

Domain	Start	End	E-Value	Type
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: ENSMUST00000128280

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128696

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150638

Meta Mutation Damage Score

0.9661

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.5%

Validation Efficiency

99% (95/96)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	G	7: 130,959,389 (GRCm39)	S150P	probably damaging	Het
5530400C23Rik	T	G	6: 133,270,174 (GRCm39)		probably benign	Het
Ahctf1	A	C	1: 179,591,033 (GRCm39)		probably null	Het
Ang5	T	C	14: 44,200,206 (GRCm39)	V90A	probably benign	Het
Ano9	C	T	7: 140,684,623 (GRCm39)	G442R	probably damaging	Het
Apaf1	G	A	10: 90,895,914 (GRCm39)	T386I	probably damaging	Het
Apob	C	A	12: 8,056,440 (GRCm39)	H1608N	probably damaging	Het
Arhgap12	C	A	18: 6,064,433 (GRCm39)		probably benign	Het
Asxl1	T	A	2: 153,241,824 (GRCm39)	D791E	probably benign	Het
Avl9	T	C	6: 56,713,891 (GRCm39)	V383A	probably benign	Het
Btbd1	A	C	7: 81,465,754 (GRCm39)	D197E	probably damaging	Het
Camta2	T	C	11: 70,564,785 (GRCm39)	I938V	possibly damaging	Het
Ccn5	G	A	2: 163,667,233 (GRCm39)	C78Y	probably damaging	Het
Cdca7	C	A	2: 72,313,811 (GRCm39)	A200D	possibly damaging	Het
Cep104	A	T	4: 154,091,249 (GRCm39)	Y923F	possibly damaging	Het
Cep135	G	C	5: 76,769,152 (GRCm39)	V601L	probably benign	Het
Ces2b	G	A	8: 105,562,542 (GRCm39)	G291S	probably benign	Het
Col6a6	C	T	9: 105,638,639 (GRCm39)	G1400D	probably damaging	Het
Cyth2	T	C	7: 45,462,541 (GRCm39)	E1G	probably damaging	Het
Dand5	A	T	8: 85,542,921 (GRCm39)	L185Q	probably damaging	Het
Dck	T	C	5: 88,929,080 (GRCm39)	V253A	probably benign	Het
Ddx20	A	G	3: 105,586,396 (GRCm39)	S650P	probably damaging	Het
Dicer1	G	A	12: 104,673,123 (GRCm39)	P799S	probably damaging	Het
Dst	C	T	1: 34,228,200 (GRCm39)	P1606L	probably damaging	Het
Fip1l1	T	A	5: 74,756,503 (GRCm39)	N498K	probably damaging	Het
Flt4	C	T	11: 49,527,166 (GRCm39)		probably benign	Het
Galntl6	T	C	8: 58,290,217 (GRCm39)		probably null	Het
Gda	A	T	19: 21,411,667 (GRCm39)	F44I	possibly damaging	Het
Gli2	G	A	1: 118,768,119 (GRCm39)	R703C	probably damaging	Het
Golgb1	T	A	16: 36,736,633 (GRCm39)	L1960Q	probably damaging	Het
Gramd1b	T	C	9: 40,219,651 (GRCm39)	D341G	probably damaging	Het
Grid2	G	T	6: 63,480,419 (GRCm39)	A78S	probably benign	Het
Hao2	A	T	3: 98,790,876 (GRCm39)		probably benign	Het
Hook3	A	G	8: 26,609,014 (GRCm39)	V10A	probably benign	Het
Kif20a	A	G	18: 34,762,262 (GRCm39)	E425G	probably damaging	Het
Lrp1	T	C	10: 127,403,252 (GRCm39)	D2107G	probably benign	Het
Lrriq3	T	C	3: 154,893,373 (GRCm39)	I358T	possibly damaging	Het
Mad2l2	A	G	4: 148,225,381 (GRCm39)	D17G	possibly damaging	Het
Mastl	G	T	2: 23,023,358 (GRCm39)	T455K	probably benign	Het
Mkln1	G	T	6: 31,409,862 (GRCm39)		probably benign	Het
Mmp1b	A	T	9: 7,387,947 (GRCm39)	Y16N	possibly damaging	Het
Mmp24	C	T	2: 155,634,517 (GRCm39)	A79V	probably benign	Het
Mrps35	T	A	6: 146,972,232 (GRCm39)	C292S	possibly damaging	Het
Myom1	T	C	17: 71,427,643 (GRCm39)	F1435L	possibly damaging	Het
Nars2	C	T	7: 96,689,130 (GRCm39)	H351Y	probably damaging	Het
Nat2	A	T	8: 67,953,919 (GRCm39)	I10F	probably damaging	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Olfm5	A	T	7: 103,803,076 (GRCm39)	Y462*	probably null	Het
Or13p5	C	T	4: 118,591,986 (GRCm39)	H87Y	probably damaging	Het
Or1j12	C	A	2: 36,342,660 (GRCm39)	A21E	probably benign	Het
Or2w3	C	A	11: 58,556,986 (GRCm39)	F200L	probably damaging	Het
Or4c122	C	A	2: 89,079,742 (GRCm39)	E87*	probably null	Het
Or4e1	T	C	14: 52,700,966 (GRCm39)	I167V	probably benign	Het
Or5p70	T	A	7: 107,994,438 (GRCm39)	I37N	probably damaging	Het
Or7g35	T	C	9: 19,496,600 (GRCm39)	S256P	possibly damaging	Het
Or8d2b	T	A	9: 38,789,111 (GRCm39)	I213N	probably damaging	Het
Or8g20	A	T	9: 39,396,284 (GRCm39)	F85L	probably benign	Het
Otog	A	T	7: 45,900,819 (GRCm39)		probably benign	Het
Pdcd2l	A	T	7: 33,892,232 (GRCm39)	D212E	possibly damaging	Het
Pex5	T	C	6: 124,381,596 (GRCm39)	N213S	probably benign	Het
Pkn3	C	T	2: 29,971,146 (GRCm39)	P238S	probably benign	Het
Pramel32	A	T	4: 88,547,536 (GRCm39)	I45K	probably damaging	Het
Prl2b1	A	T	13: 27,574,723 (GRCm39)		probably null	Het
Ptprb	A	T	10: 116,204,712 (GRCm39)	I1849L	possibly damaging	Het
Rasal3	G	T	17: 32,612,500 (GRCm39)	S787Y	probably damaging	Het
Scn2a	T	A	2: 65,532,177 (GRCm39)	D596E	possibly damaging	Het
Sdhd	A	T	9: 50,515,064 (GRCm39)	V9D	possibly damaging	Het
Serinc5	T	C	13: 92,844,565 (GRCm39)	S436P	probably damaging	Het
Slc27a1	C	T	8: 72,036,808 (GRCm39)	P348L	probably damaging	Het
Slc28a2b	A	T	2: 122,344,879 (GRCm39)	I162F	probably damaging	Het
Smg1	G	A	7: 117,759,606 (GRCm39)		probably benign	Het
Sorl1	A	T	9: 41,955,196 (GRCm39)		probably benign	Het
Sprtn	T	A	8: 125,626,957 (GRCm39)	H112Q	probably damaging	Het
Tasor2	A	T	13: 3,626,054 (GRCm39)	F1299I	probably benign	Het
Tet2	A	G	3: 133,173,363 (GRCm39)	M1633T	probably benign	Het
Tet2	T	A	3: 133,173,486 (GRCm39)	D1592V	probably benign	Het
Tmem68	A	T	4: 3,569,667 (GRCm39)	C8S	probably damaging	Het
Tnrc6a	T	A	7: 122,771,039 (GRCm39)	I943N	probably benign	Het
Trib2	A	T	12: 15,844,069 (GRCm39)	V191D	probably damaging	Het
Tsc22d4	T	C	5: 137,760,917 (GRCm39)	S113P	probably damaging	Het
Ttc21b	T	C	2: 66,069,914 (GRCm39)	R250G	probably damaging	Het
Ubr2	T	C	17: 47,278,174 (GRCm39)	Y721C	probably damaging	Het
Ubtfl1	A	T	9: 18,320,660 (GRCm39)	I63F	probably damaging	Het
Ush1c	G	A	7: 45,874,332 (GRCm39)	P171S	probably benign	Het
Utp20	A	T	10: 88,603,323 (GRCm39)	N1843K	probably damaging	Het
Vangl1	A	G	3: 102,074,253 (GRCm39)	Y285H	probably damaging	Het
Virma	A	G	4: 11,498,769 (GRCm39)	D70G	probably damaging	Het
Vmn2r102	T	C	17: 19,898,277 (GRCm39)	F431L	probably benign	Het
Wdr17	A	G	8: 55,114,530 (GRCm39)	I662T	probably damaging	Het
Wdr87-ps	T	A	7: 29,232,690 (GRCm39)		noncoding transcript	Het
Zfp160	G	A	17: 21,247,268 (GRCm39)	R606H	probably benign	Het
Zfp369	C	T	13: 65,444,248 (GRCm39)	R464C	probably damaging	Het

Other mutations in Eya2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R5137:Eya2	UTSW	2	165,573,548 (GRCm39)	missense	probably damaging	1.00
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'- GTACTGTGGAGCAAATCTGTGGAGC -3'
(R):5'- ATCTGCAAATGGGAGCAGCCTTGG -3'

Sequencing Primer
(F):5'- GGCCACTTCCTGTAGAACTAATG -3'
(R):5'- CACAAGGCTggggggtg -3'

Posted On

2013-07-11