Incidental Mutation 'R4243:Phactr3'
ID 320282
Institutional Source Beutler Lab
Gene Symbol Phactr3
Ensembl Gene ENSMUSG00000027525
Gene Name phosphatase and actin regulator 3
Synonyms 4930415A02Rik, 1500003N10Rik, scapinin
MMRRC Submission 041643-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R4243 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 177760768-177980285 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 177924982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104545 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103065] [ENSMUST00000103066] [ENSMUST00000108915] [ENSMUST00000108916] [ENSMUST00000108917]
AlphaFold Q8BYK5
Predicted Effect probably null
Transcript: ENSMUST00000103065
SMART Domains Protein: ENSMUSP00000099354
Gene: ENSMUSG00000027525

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 probably null
Transcript: ENSMUST00000103066
SMART Domains Protein: ENSMUSP00000099355
Gene: ENSMUSG00000027525

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 null
Transcript: ENSMUST00000108915
SMART Domains Protein: ENSMUSP00000104543
Gene: ENSMUSG00000027525

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 probably null
Transcript: ENSMUST00000108916
SMART Domains Protein: ENSMUSP00000104544
Gene: ENSMUSG00000027525

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 probably null
Transcript: ENSMUST00000108917
SMART Domains Protein: ENSMUSP00000104545
Gene: ENSMUSG00000027525

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (50/50)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500011B03Rik C A 5: 114,951,855 (GRCm39) R40L possibly damaging Het
4930449A18Rik T A 3: 59,733,203 (GRCm39) noncoding transcript Het
4930578I06Rik C T 14: 64,210,658 (GRCm39) R190H probably benign Het
4933409G03Rik C T 2: 68,423,887 (GRCm39) probably benign Het
Actr1b T C 1: 36,740,911 (GRCm39) Y171C possibly damaging Het
Birc2 T C 9: 7,834,386 (GRCm39) T32A probably benign Het
Cdh13 T A 8: 119,968,996 (GRCm39) V451E probably damaging Het
Cdh20 C T 1: 104,869,868 (GRCm39) T196I probably damaging Het
Cdt1 A G 8: 123,298,157 (GRCm39) M383V probably benign Het
Chrna9 T C 5: 66,092,379 (GRCm39) probably null Het
Cpne9 C T 6: 113,259,984 (GRCm39) probably benign Het
Cspg4 T C 9: 56,795,141 (GRCm39) S959P probably benign Het
Ctbp2 A G 7: 132,600,583 (GRCm39) I647T probably benign Het
Cyld A T 8: 89,457,383 (GRCm39) R536* probably null Het
Ddx1 A T 12: 13,290,910 (GRCm39) C68* probably null Het
Dock10 T A 1: 80,544,472 (GRCm39) E905V probably benign Het
Dynlt1b T C 17: 6,697,639 (GRCm39) probably null Het
Faxc G A 4: 21,982,491 (GRCm39) R310Q probably benign Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Frmd5 C A 2: 121,393,363 (GRCm39) probably null Het
Gm5174 C A 10: 86,492,144 (GRCm39) noncoding transcript Het
Hspa12b C T 2: 130,983,778 (GRCm39) H293Y possibly damaging Het
Jakmip2 A G 18: 43,710,501 (GRCm39) V234A probably benign Het
Jkamp G A 12: 72,140,799 (GRCm39) V108I probably benign Het
Mettl23 T C 11: 116,739,126 (GRCm39) V72A possibly damaging Het
Morc2b T A 17: 33,355,375 (GRCm39) Y799F probably benign Het
Mtmr11 T A 3: 96,075,393 (GRCm39) C358S probably damaging Het
Myo18b G A 5: 112,840,261 (GRCm39) H2511Y possibly damaging Het
Mysm1 A G 4: 94,857,248 (GRCm39) V120A probably benign Het
Nhlrc1 C T 13: 47,167,502 (GRCm39) V252I probably benign Het
Or12j3 G A 7: 139,952,857 (GRCm39) A222V probably benign Het
Or2ak6 T G 11: 58,593,277 (GRCm39) L250R probably damaging Het
Or7g35 C A 9: 19,495,854 (GRCm39) T7K probably damaging Het
Pard3 G A 8: 128,098,128 (GRCm39) A390T probably benign Het
Pcdhga1 T A 18: 37,796,605 (GRCm39) D536E probably damaging Het
Pkn2 T C 3: 142,526,339 (GRCm39) N413D possibly damaging Het
Ppp1r12b T G 1: 134,709,846 (GRCm39) probably benign Het
Ptprf A G 4: 118,083,649 (GRCm39) probably null Het
Rab3gap1 T C 1: 127,865,304 (GRCm39) probably null Het
Rasa1 A G 13: 85,392,314 (GRCm39) Y407H probably damaging Het
Rfx7 A G 9: 72,499,051 (GRCm39) T72A possibly damaging Het
Slc27a1 A G 8: 72,037,617 (GRCm39) T535A probably benign Het
Stra6 G A 9: 58,050,309 (GRCm39) A237T probably benign Het
Tor1aip2 A G 1: 155,941,182 (GRCm39) E496G probably damaging Het
Usp47 A G 7: 111,707,836 (GRCm39) D1294G probably damaging Het
Utp20 A G 10: 88,643,187 (GRCm39) probably null Het
Vmn1r79 T A 7: 11,910,971 (GRCm39) C284* probably null Het
Zar1 T C 5: 72,737,736 (GRCm39) E121G possibly damaging Het
Zbtb40 C T 4: 136,745,860 (GRCm39) A58T probably benign Het
Zfhx3 A G 8: 109,518,952 (GRCm39) T25A probably 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
IGL02688:Phactr3 APN 2 177,920,792 (GRCm39) missense probably damaging 0.96
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
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
Predicted Primers PCR Primer
(F):5'- ACAAGCTGCGCTCTTCCAAG -3'
(R):5'- GATCGTGGGGATTTCAGAATCG -3'

Sequencing Primer
(F):5'- TCTTCCAAGGCCCCAGCATG -3'
(R):5'- TCGTGGGGATTTCAGAATCGTAAAC -3'
Posted On 2015-06-12