Incidental Mutation 'IGL02688:Phactr3'
ID 303634
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phactr3
Ensembl Gene ENSMUSG00000027525
Gene Name phosphatase and actin regulator 3
Synonyms 4930415A02Rik, 1500003N10Rik, scapinin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # IGL02688
Quality Score
Status
Chromosome 2
Chromosomal Location 177760768-177980285 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 177920792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 215 (D215G)
Ref Sequence ENSEMBL: ENSMUSP00000104543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103065] [ENSMUST00000103066] [ENSMUST00000108915] [ENSMUST00000108916] [ENSMUST00000108917]
AlphaFold Q8BYK5
Predicted Effect probably benign
Transcript: ENSMUST00000103065
AA Change: D174G

PolyPhen 2 Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099354
Gene: ENSMUSG00000027525
AA Change: D174G

DomainStartEndE-ValueType
low complexity region 35 48 N/A INTRINSIC
RPEL 52 77 2.08e0 SMART
low complexity region 187 206 N/A INTRINSIC
RPEL 360 385 5.1e-4 SMART
low complexity region 387 397 N/A INTRINSIC
RPEL 398 423 3.24e-6 SMART
RPEL 436 461 9.82e-6 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000103066
AA Change: D214G

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099355
Gene: ENSMUSG00000027525
AA Change: D214G

DomainStartEndE-ValueType
low complexity region 17 33 N/A INTRINSIC
low complexity region 75 88 N/A INTRINSIC
RPEL 92 117 2.08e0 SMART
low complexity region 227 246 N/A INTRINSIC
RPEL 400 425 5.1e-4 SMART
low complexity region 427 437 N/A INTRINSIC
RPEL 438 463 3.24e-6 SMART
RPEL 476 501 9.82e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108915
AA Change: D215G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000104543
Gene: ENSMUSG00000027525
AA Change: D215G

DomainStartEndE-ValueType
low complexity region 76 89 N/A INTRINSIC
RPEL 93 118 2.08e0 SMART
low complexity region 228 247 N/A INTRINSIC
RPEL 401 426 5.1e-4 SMART
low complexity region 428 438 N/A INTRINSIC
RPEL 439 464 3.24e-6 SMART
RPEL 477 502 9.82e-6 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000108916
AA Change: D210G

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104544
Gene: ENSMUSG00000027525
AA Change: D210G

DomainStartEndE-ValueType
low complexity region 71 84 N/A INTRINSIC
RPEL 88 113 2.08e0 SMART
low complexity region 223 242 N/A INTRINSIC
RPEL 396 421 5.1e-4 SMART
low complexity region 423 433 N/A INTRINSIC
RPEL 434 459 3.24e-6 SMART
RPEL 472 497 9.82e-6 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000108917
AA Change: D210G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104545
Gene: ENSMUSG00000027525
AA Change: D210G

DomainStartEndE-ValueType
low complexity region 71 84 N/A INTRINSIC
RPEL 88 113 2.08e0 SMART
low complexity region 223 242 N/A INTRINSIC
RPEL 396 421 5.1e-4 SMART
low complexity region 423 433 N/A INTRINSIC
RPEL 436 458 2.74e-4 SMART
RPEL 471 496 9.82e-6 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the phosphatase and actin regulator protein family. The encoded protein is associated with the nuclear scaffold in proliferating cells, and binds to actin and the catalytic subunit of protein phosphatase-1, suggesting that it functions as a regulatory subunit of protein phosphatase-1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 C A 8: 41,279,357 (GRCm39) R583S probably benign Het
Bcl9l C T 9: 44,416,560 (GRCm39) T211I possibly damaging Het
C6 A G 15: 4,827,802 (GRCm39) I724V probably benign Het
Cacna2d4 T A 6: 119,247,710 (GRCm39) probably null Het
Casp4 A G 9: 5,322,844 (GRCm39) E40G possibly damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Dnah7a A C 1: 53,483,631 (GRCm39) M3382R possibly damaging Het
Dst T C 1: 34,235,033 (GRCm39) L3526P probably damaging Het
Eya4 A G 10: 23,035,008 (GRCm39) S116P probably benign Het
Gabra4 T A 5: 71,729,510 (GRCm39) E423D probably benign Het
Ighv1-67 T G 12: 115,567,643 (GRCm39) T90P probably damaging Het
Kcnh8 A G 17: 53,266,471 (GRCm39) T828A probably benign Het
Nr5a2 A G 1: 136,868,145 (GRCm39) probably null Het
Nup214 C T 2: 31,921,287 (GRCm39) P1237S probably benign Het
Phf2 G T 13: 48,959,315 (GRCm39) P897Q unknown Het
Pla2r1 T C 2: 60,285,545 (GRCm39) R690G probably damaging Het
Ppargc1b A G 18: 61,445,314 (GRCm39) S181P possibly damaging Het
Sele A T 1: 163,877,699 (GRCm39) I165F probably damaging Het
Srcap T C 7: 127,141,625 (GRCm39) S1626P probably benign Het
Tenm2 A G 11: 35,959,285 (GRCm39) I1088T probably benign Het
Tnrc18 T C 5: 142,775,927 (GRCm39) S69G probably damaging Het
Trmt5 C A 12: 73,328,232 (GRCm39) E324* probably null Het
Ttll3 T C 6: 113,376,700 (GRCm39) I360T probably benign Het
Zfp277 A G 12: 40,378,687 (GRCm39) V390A possibly damaging Het
Other mutations in Phactr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01419:Phactr3 APN 2 177,920,855 (GRCm39) missense probably benign 0.00
IGL01432:Phactr3 APN 2 177,924,893 (GRCm39) missense probably benign 0.05
IGL01580:Phactr3 APN 2 177,911,297 (GRCm39) splice site probably benign
IGL02985:Phactr3 APN 2 177,817,250 (GRCm39) missense probably benign
PIT4151001:Phactr3 UTSW 2 177,975,861 (GRCm39) missense probably damaging 1.00
R1854:Phactr3 UTSW 2 177,924,940 (GRCm39) missense probably damaging 1.00
R2132:Phactr3 UTSW 2 177,925,759 (GRCm39) missense probably benign 0.14
R3110:Phactr3 UTSW 2 177,920,810 (GRCm39) missense possibly damaging 0.85
R3112:Phactr3 UTSW 2 177,920,810 (GRCm39) missense possibly damaging 0.85
R3122:Phactr3 UTSW 2 177,973,411 (GRCm39) missense probably damaging 1.00
R4193:Phactr3 UTSW 2 177,924,945 (GRCm39) missense probably damaging 0.98
R4194:Phactr3 UTSW 2 177,924,902 (GRCm39) missense possibly damaging 0.80
R4243:Phactr3 UTSW 2 177,924,982 (GRCm39) splice site probably null
R4245:Phactr3 UTSW 2 177,924,982 (GRCm39) splice site probably null
R4397:Phactr3 UTSW 2 177,817,199 (GRCm39) intron probably benign
R4433:Phactr3 UTSW 2 177,924,925 (GRCm39) missense probably damaging 1.00
R4581:Phactr3 UTSW 2 177,924,965 (GRCm39) missense probably damaging 1.00
R4772:Phactr3 UTSW 2 177,925,729 (GRCm39) missense probably damaging 1.00
R4830:Phactr3 UTSW 2 177,925,811 (GRCm39) missense probably damaging 0.98
R5045:Phactr3 UTSW 2 177,973,412 (GRCm39) missense probably damaging 1.00
R5442:Phactr3 UTSW 2 177,784,254 (GRCm39) missense probably benign 0.38
R5461:Phactr3 UTSW 2 177,920,694 (GRCm39) missense probably benign
R5816:Phactr3 UTSW 2 177,944,586 (GRCm39) missense probably damaging 1.00
R6276:Phactr3 UTSW 2 177,920,812 (GRCm39) missense probably damaging 0.99
R6668:Phactr3 UTSW 2 177,974,657 (GRCm39) missense probably damaging 1.00
R7144:Phactr3 UTSW 2 177,944,529 (GRCm39) missense probably damaging 1.00
R7340:Phactr3 UTSW 2 177,975,854 (GRCm39) missense probably damaging 1.00
R7798:Phactr3 UTSW 2 177,925,703 (GRCm39) missense probably benign 0.19
R8009:Phactr3 UTSW 2 177,974,737 (GRCm39) missense probably damaging 1.00
R8074:Phactr3 UTSW 2 177,944,589 (GRCm39) missense probably damaging 1.00
R8348:Phactr3 UTSW 2 177,897,935 (GRCm39) missense probably benign 0.03
R8530:Phactr3 UTSW 2 177,925,819 (GRCm39) missense probably damaging 1.00
R9077:Phactr3 UTSW 2 177,974,758 (GRCm39) splice site probably benign
R9153:Phactr3 UTSW 2 177,925,739 (GRCm39) missense possibly damaging 0.79
R9406:Phactr3 UTSW 2 177,925,856 (GRCm39) missense probably damaging 0.99
R9676:Phactr3 UTSW 2 177,925,837 (GRCm39) nonsense probably null
R9721:Phactr3 UTSW 2 177,898,043 (GRCm39) missense probably damaging 1.00
R9722:Phactr3 UTSW 2 177,898,043 (GRCm39) missense probably damaging 1.00
R9776:Phactr3 UTSW 2 177,975,896 (GRCm39) missense probably damaging 1.00
R9778:Phactr3 UTSW 2 177,924,805 (GRCm39) missense possibly damaging 0.73
Z1176:Phactr3 UTSW 2 177,911,167 (GRCm39) missense probably damaging 0.96
Posted On 2015-04-16