Mutagenetix > Incidental Mutations

Incidental Mutation 'R5574:Eya2'

437094

Institutional Source

Beutler Lab

Gene Symbol

Eya2

Ensembl Gene

ENSMUSG00000017897

Gene Name

EYA transcriptional coactivator and phosphatase 2

Synonyms

MMRRC Submission

043129-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.789) question?

Stock #

R5574 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

165595032-165771727 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 165763816 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 380 (R380H)

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: R380H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000066244
Gene: ENSMUSG00000017897
AA Change: R380H

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: R380H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000085455
Gene: ENSMUSG00000017897
AA Change: R380H

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: ENSMUST00000128696

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150638

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

99% (68/69)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	T	A	14: 59,142,756	N31I	possibly damaging	Het
3110002H16Rik	CTGTGTGTT	CTGTGTGTTGTGTGTT	18: 12,185,006		probably null	Het
Acvr1b	T	A	15: 101,202,077	M304K	probably benign	Het
Adamts1	G	T	16: 85,799,642	D106E	probably damaging	Het
Blm	C	A	7: 80,499,773	C696F	probably damaging	Het
Bnip3l-ps	T	A	12: 18,217,118		noncoding transcript	Het
C87499	T	G	4: 88,628,043	E354A	probably benign	Het
Ccdc171	A	T	4: 83,693,753	N895I	probably damaging	Het
Cdhr4	A	T	9: 107,993,328		probably benign	Het
Cfap97	T	C	8: 46,170,142	S190P	probably damaging	Het
Chrnb1	A	C	11: 69,793,683		probably benign	Het
Clns1a	A	G	7: 97,720,958		probably benign	Het
Col8a2	G	A	4: 126,311,268		probably benign	Het
Cr2	T	A	1: 195,141,236	E721V	probably damaging	Het
Csk	A	G	9: 57,629,301	V172A	probably benign	Het
Cyp2g1	G	A	7: 26,820,740	V466M	possibly damaging	Het
Cyp4f13	A	G	17: 32,929,205	Y349H	probably benign	Het
Dnm1l	T	C	16: 16,329,821	Y205C	probably damaging	Het
Dync1i2	A	T	2: 71,233,650	T113S	probably benign	Het
Edem2	T	C	2: 155,716,155	E186G	probably damaging	Het
Fam214a	A	T	9: 75,010,390	D757V	probably damaging	Het
Fam60a	C	T	6: 148,944,880		probably benign	Het
Gldn	A	G	9: 54,312,922	T132A	probably damaging	Het
Gm13941	A	T	2: 111,100,606	I74K	unknown	Het
Gm3898	C	T	9: 43,830,042		noncoding transcript	Het
Ighmbp2	C	T	19: 3,271,536	V408I	probably benign	Het
Klhdc10	C	T	6: 30,439,865	L127F	possibly damaging	Het
Letm1	G	A	5: 33,769,386	T189M	possibly damaging	Het
Lrrc17	A	T	5: 21,570,357	I306F	possibly damaging	Het
Lrrk2	T	A	15: 91,787,016	V2000E	probably damaging	Het
Mettl9	A	T	7: 121,047,870	E66D	probably benign	Het
Mroh1	T	A	15: 76,433,931	V877D	probably benign	Het
Mycbp2	C	T	14: 103,142,767	V3760M	possibly damaging	Het
Nos3	A	G	5: 24,368,861	T208A	possibly damaging	Het
Npdc1	G	A	2: 25,408,945	D284N	probably damaging	Het
Obp2a	A	T	2: 25,700,830	T70S	possibly damaging	Het
Olfr1040	T	C	2: 86,146,191	D181G	probably damaging	Het
Olfr1100	A	G	2: 86,978,523	V91A	probably benign	Het
Olfr1245	C	T	2: 89,574,977	V250I	possibly damaging	Het
Olfr145	A	T	9: 37,897,581	Y59F	probably damaging	Het
Olfr69	T	G	7: 103,768,116	I94L	possibly damaging	Het
Pate2	A	G	9: 35,686,115		probably benign	Het
Pdzph1	A	G	17: 58,973,947	F447L	probably benign	Het
Pias1	A	G	9: 62,920,493	C211R	probably damaging	Het
Plb1	A	G	5: 32,329,947	S929G	probably benign	Het
Prc1	G	A	7: 80,294,542		probably benign	Het
Prex2	A	G	1: 11,140,058	D574G	probably damaging	Het
Rapgef4	G	A	2: 72,034,120		probably null	Het
Rock2	T	C	12: 16,961,641	M690T	possibly damaging	Het
Slc18a2	A	G	19: 59,261,405	I25V	probably benign	Het
Slc9a5	T	A	8: 105,364,691	I701K	probably benign	Het
Sorcs1	T	A	19: 50,222,133	N765Y	probably damaging	Het
Ssh2	A	T	11: 77,450,115	I698L	probably benign	Het
Stam	A	G	2: 14,115,864	D58G	probably damaging	Het
Thsd4	C	A	9: 59,972,400	R1018L	probably damaging	Het
Tnxb	A	G	17: 34,711,024	T2911A	probably benign	Het
Trpm7	A	C	2: 126,813,030	F1329L	probably benign	Het
Ttll9	A	G	2: 152,984,248	E126G	possibly damaging	Het
Tubgcp5	G	A	7: 55,805,329	V258M	probably benign	Het
Unc45a	G	A	7: 80,334,856	A232V	probably damaging	Het
Utp14b	G	A	1: 78,666,409	V675M	probably damaging	Het
Vmn2r67	T	A	7: 85,151,891	H279L	probably benign	Het
Vmn2r75	G	T	7: 86,166,302	A118E	probably benign	Het
Wdr36	A	T	18: 32,865,959	Q886L	probably damaging	Het
Zfp433	T	A	10: 81,719,291	Y27*	probably null	Het
Zfp715	A	T	7: 43,311,039	S43T	possibly damaging	Het
Zfyve26	A	G	12: 79,239,924	S2297P	possibly damaging	Het

Other mutations in Eya2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00987:Eya2	APN	2	165754481	missense	probably damaging	1.00
IGL02368:Eya2	APN	2	165763718	missense	probably damaging	1.00
IGL02465:Eya2	APN	2	165715952	missense	possibly damaging	0.89
IGL02523:Eya2	APN	2	165754436	splice site	probably benign
Needle	UTSW	2	165763816	missense	probably damaging	1.00
R0048:Eya2	UTSW	2	165716011	missense	probably damaging	1.00
R0167:Eya2	UTSW	2	165716112	missense	possibly damaging	0.89
R0479:Eya2	UTSW	2	165715956	nonsense	probably null
R0600:Eya2	UTSW	2	165769237	missense	probably damaging	1.00
R0909:Eya2	UTSW	2	165754493	missense	probably benign	0.28
R1251:Eya2	UTSW	2	165754484	missense	probably damaging	1.00
R1332:Eya2	UTSW	2	165687608	splice site	probably benign
R1725:Eya2	UTSW	2	165724685	missense	probably benign
R1729:Eya2	UTSW	2	165687663	missense	probably damaging	1.00
R1730:Eya2	UTSW	2	165687663	missense	probably damaging	1.00
R1739:Eya2	UTSW	2	165687663	missense	probably damaging	1.00
R1765:Eya2	UTSW	2	165724803	missense	probably damaging	0.99
R1879:Eya2	UTSW	2	165664806	missense	probably benign
R1969:Eya2	UTSW	2	165716119	missense	probably benign	0.00
R2430:Eya2	UTSW	2	165716130	critical splice donor site	probably null
R4285:Eya2	UTSW	2	165724780	missense	probably benign	0.01
R5137:Eya2	UTSW	2	165731628	missense	probably damaging	1.00
R5739:Eya2	UTSW	2	165761937	missense	probably damaging	1.00
R5943:Eya2	UTSW	2	165724689	missense	probably damaging	0.99
R6259:Eya2	UTSW	2	165716099	missense	probably benign	0.00
R6477:Eya2	UTSW	2	165763761	missense	probably benign
R6736:Eya2	UTSW	2	165716037	missense	possibly damaging	0.80
R7347:Eya2	UTSW	2	165687666	missense	probably benign	0.00
R7524:Eya2	UTSW	2	165769326	critical splice donor site	probably null
R7563:Eya2	UTSW	2	165716130	critical splice donor site	probably null
R7612:Eya2	UTSW	2	165687737	critical splice donor site	probably null
R8420:Eya2	UTSW	2	165767068	missense	probably damaging	1.00
R9140:Eya2	UTSW	2	165767057	missense	probably damaging	1.00
R9279:Eya2	UTSW	2	165687711	missense	probably benign	0.19
Z1177:Eya2	UTSW	2	165685593	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACCTCAAAGCCTATCGTGGG -3'
(R):5'- GCCTGCATGTATGTGTACACAC -3'

Sequencing Primer
(F):5'- TATCGTGGGCCCAGGGAC -3'
(R):5'- TGTACACACACACACCCCAAAC -3'

Posted On

2016-10-26