Incidental Mutation 'R6451:Phactr1'
ID 516359
Institutional Source Beutler Lab
Gene Symbol Phactr1
Ensembl Gene ENSMUSG00000054728
Gene Name phosphatase and actin regulator 1
Synonyms Rpel1, 9630030F18Rik
MMRRC Submission 044587-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6451 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 42834099-43292002 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 43286469 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 590 (V590E)
Ref Sequence ENSEMBL: ENSMUSP00000115228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066928] [ENSMUST00000110161] [ENSMUST00000128646] [ENSMUST00000131942] [ENSMUST00000148891] [ENSMUST00000149235]
AlphaFold Q2M3X8
PDB Structure Structure of the Phactr1 RPEL domain and RPEL motif directed assemblies with G-actin reveal the molecular basis for actin binding cooperativity. [X-RAY DIFFRACTION]
Structure of the Phactr1 RPEL-N domain bound to G-actin [X-RAY DIFFRACTION]
Structure of the Phactr1 RPEL-2 domain bound to actin [X-RAY DIFFRACTION]
Structure of the Phactr1 RPEL-2 bound to G-actin [X-RAY DIFFRACTION]
Structure of the Phactr1 RPEL-3 bound to G-actin [X-RAY DIFFRACTION]
Structure of the Phactr1 RPEL domain bound to G-actin [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000066928
AA Change: V521E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000066663
Gene: ENSMUSG00000054728
AA Change: V521E

DomainStartEndE-ValueType
low complexity region 4 42 N/A INTRINSIC
low complexity region 43 61 N/A INTRINSIC
low complexity region 113 127 N/A INTRINSIC
RPEL 131 156 7.33e-5 SMART
low complexity region 170 188 N/A INTRINSIC
low complexity region 219 239 N/A INTRINSIC
low complexity region 252 269 N/A INTRINSIC
low complexity region 330 341 N/A INTRINSIC
low complexity region 388 399 N/A INTRINSIC
RPEL 415 440 1.23e-6 SMART
RPEL 453 478 5.14e-9 SMART
RPEL 491 516 2.71e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110161
AA Change: V597E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000105790
Gene: ENSMUSG00000054728
AA Change: V597E

DomainStartEndE-ValueType
low complexity region 35 49 N/A INTRINSIC
low complexity region 50 68 N/A INTRINSIC
low complexity region 120 134 N/A INTRINSIC
RPEL 138 163 7.33e-5 SMART
low complexity region 177 195 N/A INTRINSIC
low complexity region 223 232 N/A INTRINSIC
low complexity region 295 315 N/A INTRINSIC
low complexity region 328 345 N/A INTRINSIC
low complexity region 406 417 N/A INTRINSIC
low complexity region 464 475 N/A INTRINSIC
RPEL 491 516 1.23e-6 SMART
RPEL 529 554 5.14e-9 SMART
RPEL 567 592 2.71e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123987
Predicted Effect unknown
Transcript: ENSMUST00000128646
AA Change: V528E
SMART Domains Protein: ENSMUSP00000122232
Gene: ENSMUSG00000054728
AA Change: V528E

DomainStartEndE-ValueType
low complexity region 35 49 N/A INTRINSIC
low complexity region 50 68 N/A INTRINSIC
low complexity region 120 134 N/A INTRINSIC
RPEL 138 163 7.33e-5 SMART
low complexity region 177 195 N/A INTRINSIC
low complexity region 226 246 N/A INTRINSIC
low complexity region 259 276 N/A INTRINSIC
low complexity region 337 348 N/A INTRINSIC
low complexity region 395 406 N/A INTRINSIC
RPEL 422 447 1.23e-6 SMART
RPEL 460 485 5.14e-9 SMART
RPEL 498 523 2.71e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000131942
AA Change: V505E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000123346
Gene: ENSMUSG00000054728
AA Change: V505E

DomainStartEndE-ValueType
low complexity region 28 42 N/A INTRINSIC
RPEL 46 71 7.33e-5 SMART
low complexity region 85 103 N/A INTRINSIC
low complexity region 131 140 N/A INTRINSIC
low complexity region 203 223 N/A INTRINSIC
low complexity region 236 253 N/A INTRINSIC
low complexity region 314 325 N/A INTRINSIC
low complexity region 372 383 N/A INTRINSIC
RPEL 399 424 1.23e-6 SMART
RPEL 437 462 5.14e-9 SMART
RPEL 475 500 2.71e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136576
Predicted Effect probably damaging
Transcript: ENSMUST00000148891
AA Change: V590E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115228
Gene: ENSMUSG00000054728
AA Change: V590E

DomainStartEndE-ValueType
low complexity region 4 42 N/A INTRINSIC
low complexity region 43 61 N/A INTRINSIC
low complexity region 113 127 N/A INTRINSIC
RPEL 131 156 7.33e-5 SMART
low complexity region 170 188 N/A INTRINSIC
low complexity region 216 225 N/A INTRINSIC
low complexity region 288 308 N/A INTRINSIC
low complexity region 321 338 N/A INTRINSIC
low complexity region 399 410 N/A INTRINSIC
low complexity region 457 468 N/A INTRINSIC
RPEL 484 509 1.23e-6 SMART
RPEL 522 547 5.14e-9 SMART
RPEL 560 585 2.71e-8 SMART
Predicted Effect unknown
Transcript: ENSMUST00000149235
AA Change: V528E
SMART Domains Protein: ENSMUSP00000115207
Gene: ENSMUSG00000054728
AA Change: V528E

DomainStartEndE-ValueType
low complexity region 35 49 N/A INTRINSIC
low complexity region 50 68 N/A INTRINSIC
low complexity region 120 134 N/A INTRINSIC
RPEL 138 163 7.33e-5 SMART
low complexity region 177 195 N/A INTRINSIC
low complexity region 226 246 N/A INTRINSIC
low complexity region 259 276 N/A INTRINSIC
low complexity region 337 348 N/A INTRINSIC
low complexity region 395 406 N/A INTRINSIC
RPEL 422 447 1.23e-6 SMART
RPEL 460 485 5.14e-9 SMART
RPEL 498 523 2.71e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140651
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150620
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138640
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137434
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136951
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161201
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.9%
Validation Efficiency 98% (39/40)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the phosphatase and actin regulator family of proteins. This family member can bind actin and regulate the reorganization of the actin cytoskeleton. It plays a role in tubule formation and in endothelial cell survival. Polymorphisms in this gene are associated with susceptibility to myocardial infarction, coronary artery disease and cervical artery dissection. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 79,842,733 (GRCm39) V1164E probably damaging Het
Acnat2 A G 4: 49,380,262 (GRCm39) V372A probably benign Het
Adam17 A T 12: 21,392,883 (GRCm39) D313E probably benign Het
Adgrf5 A T 17: 43,735,709 (GRCm39) R200* probably null Het
Akr1d1 G A 6: 37,527,150 (GRCm39) E129K probably benign Het
Arhgap29 T A 3: 121,787,230 (GRCm39) V382E probably damaging Het
Arhgef40 G A 14: 52,238,456 (GRCm39) V1312I probably damaging Het
Bbs9 A G 9: 22,479,060 (GRCm39) S168G probably damaging Het
Carmil1 T A 13: 24,276,541 (GRCm39) K202* probably null Het
Cnep1r1 A G 8: 88,846,438 (GRCm39) E19G probably damaging Het
Dnah1 T A 14: 31,022,765 (GRCm39) Q1124L probably benign Het
Dph1 G T 11: 75,072,143 (GRCm39) A242D probably damaging Het
Efcab7 T A 4: 99,719,738 (GRCm39) Y73* probably null Het
Esp18 G T 17: 39,720,853 (GRCm39) E33* probably null Het
Fbln2 T A 6: 91,211,241 (GRCm39) I395K probably benign Het
Grin3a C T 4: 49,844,969 (GRCm39) C38Y probably damaging Het
Hivep3 T A 4: 119,956,105 (GRCm39) S1474T probably benign Het
Hmcn1 C T 1: 150,868,670 (GRCm39) V45M probably damaging Het
Intu T A 3: 40,655,723 (GRCm39) F937I possibly damaging Het
Llgl2 G A 11: 115,735,767 (GRCm39) G121D probably damaging Het
Myo7a C T 7: 97,722,374 (GRCm39) V1184M probably benign Het
Nsmce4a G T 7: 130,144,479 (GRCm39) Het
Or5w20 T C 2: 87,726,935 (GRCm39) Y131H probably damaging Het
Or6c69c A T 10: 129,911,007 (GRCm39) M243L probably benign Het
Pigo G A 4: 43,021,412 (GRCm39) S510L probably benign Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Rnf19a A G 15: 36,253,205 (GRCm39) I378T possibly damaging Het
Rnf216 G T 5: 142,978,589 (GRCm39) P793T possibly damaging Het
Samd8 T C 14: 21,833,866 (GRCm39) probably null Het
Son T A 16: 91,454,490 (GRCm39) M1079K probably damaging Het
Spata7 T A 12: 98,624,596 (GRCm39) M166K probably benign Het
Spta1 G A 1: 174,044,767 (GRCm39) E1468K probably damaging Het
Taar3 A T 10: 23,825,705 (GRCm39) I84F possibly damaging Het
Tas2r107 T A 6: 131,636,977 (GRCm39) D24V possibly damaging Het
Tmc2 A G 2: 130,106,123 (GRCm39) R885G probably damaging Het
Tox3 C A 8: 90,984,687 (GRCm39) R164L probably benign Het
Ttc5 A G 14: 51,004,664 (GRCm39) I380T probably damaging Het
Vmn1r179 A G 7: 23,628,076 (GRCm39) N89S possibly damaging Het
Zfp944 T C 17: 22,557,846 (GRCm39) E467G probably benign Het
Zzef1 A T 11: 72,813,982 (GRCm39) D2857V possibly damaging Het
Other mutations in Phactr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Phactr1 APN 13 43,110,122 (GRCm39) missense probably damaging 0.99
IGL01144:Phactr1 APN 13 43,191,000 (GRCm39) missense possibly damaging 0.93
IGL02193:Phactr1 APN 13 42,863,176 (GRCm39) splice site probably benign
IGL02691:Phactr1 APN 13 43,231,213 (GRCm39) missense probably benign 0.38
R0028:Phactr1 UTSW 13 43,210,655 (GRCm39) missense probably damaging 1.00
R0060:Phactr1 UTSW 13 42,836,197 (GRCm39) nonsense probably null
R0522:Phactr1 UTSW 13 43,213,067 (GRCm39) missense probably benign 0.00
R1354:Phactr1 UTSW 13 43,210,807 (GRCm39) missense possibly damaging 0.91
R1382:Phactr1 UTSW 13 43,286,451 (GRCm39) missense probably damaging 1.00
R1496:Phactr1 UTSW 13 43,248,466 (GRCm39) missense probably damaging 0.98
R1620:Phactr1 UTSW 13 43,248,373 (GRCm39) missense probably damaging 1.00
R1638:Phactr1 UTSW 13 43,110,147 (GRCm39) missense probably damaging 1.00
R1679:Phactr1 UTSW 13 43,248,257 (GRCm39) missense possibly damaging 0.94
R1679:Phactr1 UTSW 13 43,210,756 (GRCm39) missense possibly damaging 0.65
R2055:Phactr1 UTSW 13 43,231,416 (GRCm39) missense probably damaging 1.00
R2137:Phactr1 UTSW 13 43,288,651 (GRCm39) missense possibly damaging 0.77
R2276:Phactr1 UTSW 13 43,231,265 (GRCm39) missense possibly damaging 0.86
R2279:Phactr1 UTSW 13 43,231,265 (GRCm39) missense possibly damaging 0.86
R3122:Phactr1 UTSW 13 43,213,049 (GRCm39) missense possibly damaging 0.94
R4073:Phactr1 UTSW 13 43,213,245 (GRCm39) intron probably benign
R4131:Phactr1 UTSW 13 43,190,953 (GRCm39) missense probably damaging 0.99
R4237:Phactr1 UTSW 13 43,248,363 (GRCm39) missense possibly damaging 0.94
R4238:Phactr1 UTSW 13 43,248,363 (GRCm39) missense possibly damaging 0.94
R4239:Phactr1 UTSW 13 43,248,363 (GRCm39) missense possibly damaging 0.94
R4240:Phactr1 UTSW 13 43,248,363 (GRCm39) missense possibly damaging 0.94
R4507:Phactr1 UTSW 13 43,250,270 (GRCm39) missense probably damaging 0.96
R4602:Phactr1 UTSW 13 43,248,441 (GRCm39) missense probably benign 0.00
R4914:Phactr1 UTSW 13 43,287,439 (GRCm39) missense possibly damaging 0.58
R5382:Phactr1 UTSW 13 43,288,695 (GRCm39) utr 3 prime probably benign
R5882:Phactr1 UTSW 13 42,863,327 (GRCm39) critical splice donor site probably null
R6253:Phactr1 UTSW 13 43,248,247 (GRCm39) missense probably benign 0.06
R6808:Phactr1 UTSW 13 43,286,445 (GRCm39) missense probably damaging 1.00
R7061:Phactr1 UTSW 13 43,286,457 (GRCm39) missense probably damaging 1.00
R7847:Phactr1 UTSW 13 43,210,664 (GRCm39) missense possibly damaging 0.96
R7912:Phactr1 UTSW 13 42,863,239 (GRCm39) missense probably benign 0.08
R7937:Phactr1 UTSW 13 43,231,205 (GRCm39) missense unknown
R8344:Phactr1 UTSW 13 42,863,297 (GRCm39) missense possibly damaging 0.83
R8494:Phactr1 UTSW 13 43,250,144 (GRCm39) missense probably damaging 1.00
R9164:Phactr1 UTSW 13 42,836,178 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- AACACCTCAGTTGTTTTCCTGAAC -3'
(R):5'- AACAGACTGGGAGGTTTTGC -3'

Sequencing Primer
(F):5'- CCTGAACTCATTTTCCATTCTCTAAG -3'
(R):5'- AGGTTTTGCAACAGGTCACC -3'
Posted On 2018-05-21