Incidental Mutation 'R0167:Eya2'
ID |
24217 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eya2
|
Ensembl Gene |
ENSMUSG00000017897 |
Gene Name |
EYA transcriptional coactivator and phosphatase 2 |
Synonyms |
|
MMRRC Submission |
038443-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.830)
|
Stock # |
R0167 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
2 |
Chromosomal Location |
165436952-165613647 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 165558032 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 209
(S209R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000085455
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063433]
[ENSMUST00000088132]
|
AlphaFold |
O08575 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063433
AA Change: S209R
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000066244 Gene: ENSMUSG00000017897 AA Change: S209R
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 |
possibly damaging
Transcript: ENSMUST00000088132
AA Change: S209R
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000085455 Gene: ENSMUSG00000017897 AA Change: S209R
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: ENSMUST00000150638
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150669
|
Meta Mutation Damage Score |
0.0636 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.7%
|
Validation Efficiency |
95% (58/61) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl11 |
T |
C |
9: 107,806,969 (GRCm39) |
F431L |
probably damaging |
Het |
Ahrr |
G |
A |
13: 74,431,143 (GRCm39) |
|
probably benign |
Het |
Bltp3a |
C |
T |
17: 28,099,176 (GRCm39) |
T246M |
possibly damaging |
Het |
Bsn |
T |
C |
9: 108,003,185 (GRCm39) |
T407A |
probably benign |
Het |
Ccdc96 |
T |
C |
5: 36,642,497 (GRCm39) |
F168L |
probably benign |
Het |
Cckar |
A |
T |
5: 53,863,795 (GRCm39) |
S55R |
probably damaging |
Het |
Cdh5 |
A |
C |
8: 104,863,367 (GRCm39) |
I426L |
possibly damaging |
Het |
Clcn1 |
T |
C |
6: 42,263,770 (GRCm39) |
Y24H |
probably damaging |
Het |
Clpx |
G |
A |
9: 65,224,019 (GRCm39) |
R271K |
possibly damaging |
Het |
Col6a3 |
C |
T |
1: 90,725,895 (GRCm39) |
G1978D |
probably damaging |
Het |
Cpne2 |
T |
C |
8: 95,295,207 (GRCm39) |
|
probably benign |
Het |
D630023F18Rik |
A |
G |
1: 65,156,340 (GRCm39) |
V51A |
possibly damaging |
Het |
Dcaf4 |
G |
A |
12: 83,582,762 (GRCm39) |
|
probably benign |
Het |
Dlk2 |
C |
A |
17: 46,613,530 (GRCm39) |
R262S |
possibly damaging |
Het |
Dubr |
G |
T |
16: 50,553,007 (GRCm39) |
|
noncoding transcript |
Het |
Elane |
T |
A |
10: 79,722,933 (GRCm39) |
|
probably null |
Het |
Fam171a1 |
C |
T |
2: 3,187,469 (GRCm39) |
S112L |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,811,151 (GRCm39) |
M2490K |
possibly damaging |
Het |
Galnt14 |
T |
C |
17: 73,829,715 (GRCm39) |
T277A |
probably damaging |
Het |
Golga1 |
T |
C |
2: 38,937,660 (GRCm39) |
N128S |
probably benign |
Het |
H1f6 |
T |
C |
13: 23,879,886 (GRCm39) |
V13A |
probably benign |
Het |
Hdac2 |
T |
C |
10: 36,876,368 (GRCm39) |
V461A |
probably benign |
Het |
Hey2 |
A |
G |
10: 30,716,661 (GRCm39) |
V34A |
probably benign |
Het |
Ift22 |
T |
C |
5: 136,940,745 (GRCm39) |
C137R |
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,256,002 (GRCm39) |
D4657G |
possibly damaging |
Het |
Lrrn3 |
T |
A |
12: 41,504,014 (GRCm39) |
Q101L |
probably damaging |
Het |
Med25 |
A |
G |
7: 44,532,521 (GRCm39) |
|
probably null |
Het |
Mup5 |
T |
A |
4: 61,752,019 (GRCm39) |
|
probably null |
Het |
Or51aa5 |
A |
T |
7: 103,166,708 (GRCm39) |
Y294* |
probably null |
Het |
Or5ac23 |
A |
T |
16: 59,149,337 (GRCm39) |
C178* |
probably null |
Het |
Or9q2 |
T |
C |
19: 13,772,931 (GRCm39) |
T15A |
probably benign |
Het |
Otog |
G |
A |
7: 45,953,655 (GRCm39) |
V2638M |
probably damaging |
Het |
Parg |
T |
C |
14: 31,939,693 (GRCm39) |
|
probably null |
Het |
Prep |
A |
G |
10: 45,034,326 (GRCm39) |
|
probably null |
Het |
Prss1l |
T |
A |
6: 41,373,195 (GRCm39) |
|
probably benign |
Het |
Psip1 |
T |
C |
4: 83,385,055 (GRCm39) |
|
probably null |
Het |
Rbbp8 |
T |
A |
18: 11,793,979 (GRCm39) |
Y30* |
probably null |
Het |
Rhbdd1 |
T |
C |
1: 82,320,505 (GRCm39) |
V163A |
probably benign |
Het |
Setd2 |
T |
A |
9: 110,402,850 (GRCm39) |
N1830K |
probably damaging |
Het |
Shc4 |
T |
G |
2: 125,564,933 (GRCm39) |
N122T |
probably benign |
Het |
Shroom3 |
T |
C |
5: 93,096,254 (GRCm39) |
|
probably benign |
Het |
Snx14 |
A |
T |
9: 88,289,469 (GRCm39) |
L261Q |
probably damaging |
Het |
St8sia1 |
A |
G |
6: 142,859,907 (GRCm39) |
|
probably benign |
Het |
Thbs2 |
A |
T |
17: 14,887,787 (GRCm39) |
|
probably benign |
Het |
Tpp2 |
T |
C |
1: 44,009,648 (GRCm39) |
V494A |
probably benign |
Het |
Trdmt1 |
A |
T |
2: 13,520,829 (GRCm39) |
F358I |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,719,867 (GRCm39) |
|
probably benign |
Het |
Uggt1 |
A |
G |
1: 36,209,278 (GRCm39) |
|
probably null |
Het |
Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
Vstm2a |
T |
A |
11: 16,208,044 (GRCm39) |
F13I |
probably damaging |
Het |
Zfp804a |
T |
G |
2: 82,086,860 (GRCm39) |
F230V |
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 |
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 |
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'- GTCCTACCCCAGCTTTTCACAGAAC -3'
(R):5'- TTTGAATCCCAGCCCCACAGTTAC -3'
Sequencing Primer
(F):5'- GCTTTTCACAGAACCAGTACC -3'
(R):5'- gcaaatcacgaccacctctaac -3'
|
Posted On |
2013-04-16 |