Incidental Mutation 'R8494:Phactr1'
ID 658201
Institutional Source Beutler Lab
Gene Symbol Phactr1
Ensembl Gene ENSMUSG00000054728
Gene Name phosphatase and actin regulator 1
Synonyms Rpel1, 9630030F18Rik
MMRRC Submission 067936-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8494 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 42834099-43292002 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 43250144 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 487 (V487E)
Ref Sequence ENSEMBL: ENSMUSP00000105790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066928] [ENSMUST00000110161] [ENSMUST00000128646] [ENSMUST00000131942] [ENSMUST00000148891] [ENSMUST00000149235]
AlphaFold Q2M3X8
Predicted Effect probably damaging
Transcript: ENSMUST00000066928
AA Change: V411E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000066663
Gene: ENSMUSG00000054728
AA Change: V411E

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: V487E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105790
Gene: ENSMUSG00000054728
AA Change: V487E

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 unknown
Transcript: ENSMUST00000128646
AA Change: V418E
SMART Domains Protein: ENSMUSP00000122232
Gene: ENSMUSG00000054728
AA Change: V418E

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: V395E

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123346
Gene: ENSMUSG00000054728
AA Change: V395E

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 probably damaging
Transcript: ENSMUST00000148891
AA Change: V480E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000115228
Gene: ENSMUSG00000054728
AA Change: V480E

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: V418E
SMART Domains Protein: ENSMUSP00000115207
Gene: ENSMUSG00000054728
AA Change: V418E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,327,821 (GRCm39) M1420L probably benign Het
Adamts14 T A 10: 61,038,708 (GRCm39) H934L probably benign Het
Adamtsl1 T C 4: 86,240,221 (GRCm39) C661R probably damaging Het
Akap5 A G 12: 76,376,455 (GRCm39) D629G probably benign Het
Anapc16 A T 10: 59,832,340 (GRCm39) probably benign Het
Ankar T C 1: 72,697,953 (GRCm39) I758V probably benign Het
Apc2 G T 10: 80,150,313 (GRCm39) R1760L probably damaging Het
C1qb T C 4: 136,608,115 (GRCm39) T83A probably benign Het
Canx T A 11: 50,202,609 (GRCm39) probably null Het
Cblb T A 16: 52,025,003 (GRCm39) I966K probably damaging Het
Crocc2 A T 1: 93,144,788 (GRCm39) Q1444L probably damaging Het
Dennd4c C T 4: 86,759,312 (GRCm39) P1781S probably damaging Het
Diaph3 T C 14: 87,274,958 (GRCm39) Y166C probably benign Het
Dnah5 A C 15: 28,345,977 (GRCm39) N2439T probably benign Het
Dsg3 T A 18: 20,673,271 (GRCm39) Y981N probably benign Het
Esrp2 C T 8: 106,861,350 (GRCm39) V150M probably damaging Het
Fbxo15 T G 18: 84,982,252 (GRCm39) F235V probably damaging Het
Ffar2 A T 7: 30,519,164 (GRCm39) Y125* probably null Het
Gm1110 T A 9: 26,792,154 (GRCm39) D622V probably benign Het
Gpcpd1 A G 2: 132,386,355 (GRCm39) V341A probably damaging Het
Gpx3 G A 11: 54,793,846 (GRCm39) V19I probably benign Het
Hadha T C 5: 30,347,810 (GRCm39) I160M probably damaging Het
Igkv3-4 G T 6: 70,649,147 (GRCm39) V49F probably damaging Het
Kcng1 A G 2: 168,105,018 (GRCm39) V276A probably damaging Het
Kif7 A T 7: 79,360,145 (GRCm39) V364D probably benign Het
Kirrel3 A G 9: 34,902,341 (GRCm39) I182V probably benign Het
Lfng G A 5: 140,598,981 (GRCm39) E297K probably damaging Het
Mcm9 G A 10: 53,501,856 (GRCm39) T243M possibly damaging Het
Micall1 T C 15: 79,005,080 (GRCm39) L184P probably damaging Het
Mief1 T A 15: 80,133,593 (GRCm39) C217S probably benign Het
Mier2 T C 10: 79,377,546 (GRCm39) D469G probably damaging Het
Mst1r T G 9: 107,791,718 (GRCm39) W799G possibly damaging Het
Mybpc1 C T 10: 88,362,291 (GRCm39) V950I probably benign Het
Neurl4 A G 11: 69,801,871 (GRCm39) D1296G probably benign Het
Or4b12 A T 2: 90,095,880 (GRCm39) M298K probably null Het
Parg T A 14: 31,930,978 (GRCm39) H199Q probably benign Het
Pcnx3 C A 19: 5,725,404 (GRCm39) D1170Y probably damaging Het
Selp T G 1: 163,957,835 (GRCm39) probably null Het
Smpd3 T C 8: 106,981,982 (GRCm39) E626G probably damaging Het
Syn3 A G 10: 86,190,265 (GRCm39) L188P probably damaging Het
Tle1 T C 4: 72,043,241 (GRCm39) I543V possibly damaging Het
Trp53rkb A G 2: 166,637,779 (GRCm39) *245W probably null Het
Ttc28 A G 5: 111,383,506 (GRCm39) R1336G probably damaging Het
Vps13b T A 15: 35,422,594 (GRCm39) W185R probably 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
R6451:Phactr1 UTSW 13 43,286,469 (GRCm39) missense probably damaging 1.00
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
R9164:Phactr1 UTSW 13 42,836,178 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- GAGATCCAGTCACAGGCTTC -3'
(R):5'- TAGCCACAGAGACTGTCCTG -3'

Sequencing Primer
(F):5'- TGATGATGGCAGCGACCCTAAG -3'
(R):5'- AGAGACTGTCCTGCGACCAG -3'
Posted On 2021-01-18