Incidental Mutation 'IGL03064:Phactr2'
ID 409621
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phactr2
Ensembl Gene ENSMUSG00000062866
Gene Name phosphatase and actin regulator 2
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03064
Quality Score
Status
Chromosome 10
Chromosomal Location 13083461-13350156 bp(-) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) A to G at 13264457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079698] [ENSMUST00000105545] [ENSMUST00000105546]
AlphaFold B1AVP0
Predicted Effect probably benign
Transcript: ENSMUST00000079698
SMART Domains Protein: ENSMUSP00000078637
Gene: ENSMUSG00000062866

DomainStartEndE-ValueType
low complexity region 39 54 N/A INTRINSIC
RPEL 60 85 7.44e-6 SMART
low complexity region 154 179 N/A INTRINSIC
low complexity region 208 218 N/A INTRINSIC
low complexity region 250 270 N/A INTRINSIC
low complexity region 378 388 N/A INTRINSIC
RPEL 403 428 5.81e-8 SMART
RPEL 441 466 1.36e-8 SMART
RPEL 479 504 1.64e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105545
SMART Domains Protein: ENSMUSP00000101184
Gene: ENSMUSG00000062866

DomainStartEndE-ValueType
low complexity region 50 65 N/A INTRINSIC
RPEL 71 96 7.44e-6 SMART
low complexity region 157 182 N/A INTRINSIC
low complexity region 211 221 N/A INTRINSIC
low complexity region 253 273 N/A INTRINSIC
low complexity region 381 391 N/A INTRINSIC
RPEL 406 431 5.81e-8 SMART
RPEL 444 469 1.36e-8 SMART
RPEL 482 507 1.64e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105546
SMART Domains Protein: ENSMUSP00000101185
Gene: ENSMUSG00000062866

DomainStartEndE-ValueType
low complexity region 39 54 N/A INTRINSIC
RPEL 60 85 7.44e-6 SMART
low complexity region 133 144 N/A INTRINSIC
low complexity region 149 184 N/A INTRINSIC
low complexity region 199 213 N/A INTRINSIC
low complexity region 226 251 N/A INTRINSIC
low complexity region 280 290 N/A INTRINSIC
low complexity region 322 342 N/A INTRINSIC
low complexity region 450 460 N/A INTRINSIC
RPEL 475 500 5.81e-8 SMART
RPEL 513 538 1.36e-8 SMART
RPEL 551 576 1.64e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154265
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 A G 7: 119,174,864 (GRCm39) T210A probably damaging Het
Adgb T A 10: 10,276,316 (GRCm39) T351S probably benign Het
Akap9 A G 5: 4,018,755 (GRCm39) H1112R probably damaging Het
Angptl6 A T 9: 20,786,939 (GRCm39) Y261* probably null Het
Arhgef10l A C 4: 140,306,590 (GRCm39) F395V probably damaging Het
Bub1 T C 2: 127,659,373 (GRCm39) N328S probably benign Het
Cacna1s A G 1: 136,039,731 (GRCm39) N1186D probably damaging Het
Cacna2d2 C A 9: 107,386,474 (GRCm39) F200L probably damaging Het
Calca G A 7: 114,232,919 (GRCm39) S110L probably benign Het
Ccdc120 G A X: 7,601,601 (GRCm39) P263S probably benign Het
Dcaf8l A G X: 88,448,857 (GRCm39) V424A possibly damaging Het
Dgki C A 6: 37,126,599 (GRCm39) probably benign Het
Ear1 G T 14: 44,056,502 (GRCm39) S122* probably null Het
F5 A T 1: 164,023,163 (GRCm39) T1574S probably benign Het
Fam227b T C 2: 125,968,762 (GRCm39) probably null Het
Gm20521 T A 14: 55,134,680 (GRCm39) S301T possibly damaging Het
Hsd17b7 A T 1: 169,787,287 (GRCm39) I239N probably benign Het
Itih1 C A 14: 30,663,514 (GRCm39) E163D probably benign Het
Lama1 A T 17: 68,086,099 (GRCm39) Y1446F probably benign Het
Lama3 C T 18: 12,572,406 (GRCm39) T537M possibly damaging Het
Lars1 G T 18: 42,354,636 (GRCm39) Y770* probably null Het
Lrp2 A T 2: 69,313,477 (GRCm39) V2418E probably damaging Het
Maip1 A G 1: 57,446,359 (GRCm39) E143G probably damaging Het
Mast4 G T 13: 102,897,472 (GRCm39) S739* probably null Het
Mctp1 C T 13: 76,949,632 (GRCm39) Q555* probably null Het
Med14 A T X: 12,613,742 (GRCm39) D291E probably benign Het
Mgat2 T A 12: 69,231,777 (GRCm39) V117D probably damaging Het
Mllt1 A T 17: 57,207,094 (GRCm39) M250K probably benign Het
Myt1 A C 2: 181,439,594 (GRCm39) Y372S probably benign Het
Naa16 T A 14: 79,577,068 (GRCm39) Q735H probably damaging Het
Ncf4 A G 15: 78,135,102 (GRCm39) Y53C probably damaging Het
Nlrp4a A T 7: 26,148,934 (GRCm39) K180N probably benign Het
Nova1 A G 12: 46,746,861 (GRCm39) V472A probably damaging Het
Nup153 T C 13: 46,847,315 (GRCm39) T705A probably benign Het
Odf2 T A 2: 29,791,091 (GRCm39) N79K probably benign Het
Or4f7 A G 2: 111,644,768 (GRCm39) I101T possibly damaging Het
Pard3b G A 1: 62,237,930 (GRCm39) probably benign Het
Pde8b G A 13: 95,182,906 (GRCm39) T388I probably damaging Het
Phf12 T C 11: 77,874,186 (GRCm39) S17P probably damaging Het
Psmg2 T A 18: 67,779,102 (GRCm39) L90* probably null Het
Ryr2 T C 13: 11,658,788 (GRCm39) probably null Het
Sec23b T C 2: 144,423,952 (GRCm39) F534L probably benign Het
Sin3b A G 8: 73,483,686 (GRCm39) probably benign Het
Slc30a5 A T 13: 100,947,818 (GRCm39) L463Q probably damaging Het
Slc35g3 T C 11: 69,651,895 (GRCm39) H52R possibly damaging Het
Slc6a3 G T 13: 73,719,585 (GRCm39) S538I probably damaging Het
Socs2 G T 10: 95,248,713 (GRCm39) C133* probably null Het
Srebf2 G A 15: 82,076,423 (GRCm39) R691H probably benign Het
Tlr11 C A 14: 50,598,557 (GRCm39) P181Q probably damaging Het
Tlr7 T A X: 166,089,203 (GRCm39) Q761L possibly damaging Het
Tmem120b T A 5: 123,240,336 (GRCm39) Y90N possibly damaging Het
Tpcn1 T C 5: 120,675,631 (GRCm39) I778V possibly damaging Het
Ttll8 T C 15: 88,803,797 (GRCm39) T385A probably benign Het
Vmn1r223 G A 13: 23,434,153 (GRCm39) R249H probably damaging Het
Vmn2r53 A T 7: 12,334,937 (GRCm39) I241N possibly damaging Het
Wdfy3 T C 5: 102,083,863 (GRCm39) R808G probably damaging Het
Zfyve26 T A 12: 79,308,565 (GRCm39) S231C probably damaging Het
Other mutations in Phactr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00335:Phactr2 APN 10 13,121,279 (GRCm39) missense probably damaging 1.00
IGL01844:Phactr2 APN 10 13,129,181 (GRCm39) missense probably benign 0.05
IGL01893:Phactr2 APN 10 13,122,932 (GRCm39) missense probably benign 0.38
IGL02458:Phactr2 APN 10 13,137,572 (GRCm39) missense probably damaging 1.00
IGL02612:Phactr2 APN 10 13,121,167 (GRCm39) missense probably damaging 0.99
IGL02620:Phactr2 APN 10 13,167,632 (GRCm39) missense probably damaging 1.00
IGL03493:Phactr2 APN 10 13,133,413 (GRCm39) missense probably benign 0.02
R0973:Phactr2 UTSW 10 13,122,883 (GRCm39) missense possibly damaging 0.88
R0973:Phactr2 UTSW 10 13,122,883 (GRCm39) missense possibly damaging 0.88
R0974:Phactr2 UTSW 10 13,122,883 (GRCm39) missense possibly damaging 0.88
R1480:Phactr2 UTSW 10 13,129,536 (GRCm39) missense possibly damaging 0.74
R3115:Phactr2 UTSW 10 13,137,645 (GRCm39) nonsense probably null
R3116:Phactr2 UTSW 10 13,137,645 (GRCm39) nonsense probably null
R3713:Phactr2 UTSW 10 13,264,476 (GRCm39) start gained probably benign
R4367:Phactr2 UTSW 10 13,129,564 (GRCm39) missense probably damaging 1.00
R4368:Phactr2 UTSW 10 13,129,564 (GRCm39) missense probably damaging 1.00
R4371:Phactr2 UTSW 10 13,129,564 (GRCm39) missense probably damaging 1.00
R5344:Phactr2 UTSW 10 13,129,360 (GRCm39) missense possibly damaging 0.76
R5491:Phactr2 UTSW 10 13,137,590 (GRCm39) missense possibly damaging 0.91
R5617:Phactr2 UTSW 10 13,349,809 (GRCm39) missense possibly damaging 0.60
R5656:Phactr2 UTSW 10 13,264,447 (GRCm39) missense probably benign 0.34
R5895:Phactr2 UTSW 10 13,121,261 (GRCm39) missense probably damaging 1.00
R6051:Phactr2 UTSW 10 13,137,555 (GRCm39) splice site probably null 0.00
R6317:Phactr2 UTSW 10 13,137,626 (GRCm39) missense probably damaging 0.98
R7048:Phactr2 UTSW 10 13,121,168 (GRCm39) missense probably benign 0.28
R7101:Phactr2 UTSW 10 13,122,922 (GRCm39) missense probably benign 0.00
R7221:Phactr2 UTSW 10 13,122,783 (GRCm39) missense possibly damaging 0.58
R7868:Phactr2 UTSW 10 13,108,353 (GRCm39) missense probably damaging 1.00
R8408:Phactr2 UTSW 10 13,129,570 (GRCm39) missense probably damaging 1.00
R8865:Phactr2 UTSW 10 13,129,476 (GRCm39) missense probably benign 0.00
R9095:Phactr2 UTSW 10 13,129,386 (GRCm39) missense probably benign 0.26
R9443:Phactr2 UTSW 10 13,122,841 (GRCm39) missense probably benign 0.00
R9572:Phactr2 UTSW 10 13,264,561 (GRCm39) unclassified probably benign
R9695:Phactr2 UTSW 10 13,349,908 (GRCm39) missense unknown
RF023:Phactr2 UTSW 10 13,121,178 (GRCm39) missense probably benign 0.10
X0026:Phactr2 UTSW 10 13,133,378 (GRCm39) nonsense probably null
Posted On 2016-08-02