Incidental Mutation 'R4367:Phactr2'
ID 325817
Institutional Source Beutler Lab
Gene Symbol Phactr2
Ensembl Gene ENSMUSG00000062866
Gene Name phosphatase and actin regulator 2
Synonyms
MMRRC Submission 041673-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4367 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 13083461-13350156 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13129564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 235 (S235P)
Ref Sequence ENSEMBL: ENSMUSP00000101184 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079698] [ENSMUST00000105543] [ENSMUST00000105545] [ENSMUST00000105546]
AlphaFold B1AVP0
Predicted Effect probably damaging
Transcript: ENSMUST00000079698
AA Change: S165P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000078637
Gene: ENSMUSG00000062866
AA Change: S165P

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 damaging
Transcript: ENSMUST00000105543
AA Change: S172P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101182
Gene: ENSMUSG00000062866
AA Change: S172P

DomainStartEndE-ValueType
low complexity region 50 65 N/A INTRINSIC
RPEL 71 96 7.44e-6 SMART
low complexity region 165 190 N/A INTRINSIC
low complexity region 219 229 N/A INTRINSIC
low complexity region 261 281 N/A INTRINSIC
low complexity region 389 399 N/A INTRINSIC
RPEL 414 439 5.81e-8 SMART
RPEL 452 477 1.36e-8 SMART
RPEL 490 515 1.64e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000105545
AA Change: S235P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101184
Gene: ENSMUSG00000062866
AA Change: S235P

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 damaging
Transcript: ENSMUST00000105546
AA Change: S241P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101185
Gene: ENSMUSG00000062866
AA Change: S241P

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 probably damaging
Transcript: ENSMUST00000105547
AA Change: S239P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101186
Gene: ENSMUSG00000062866
AA Change: S239P

DomainStartEndE-ValueType
low complexity region 12 36 N/A INTRINSIC
low complexity region 50 65 N/A INTRINSIC
low complexity region 109 124 N/A INTRINSIC
RPEL 130 155 7.44e-6 SMART
low complexity region 224 249 N/A INTRINSIC
low complexity region 278 288 N/A INTRINSIC
low complexity region 320 340 N/A INTRINSIC
low complexity region 448 458 N/A INTRINSIC
RPEL 473 498 5.81e-8 SMART
RPEL 511 536 1.36e-8 SMART
RPEL 549 574 1.64e-7 SMART
Meta Mutation Damage Score 0.0661 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrb2 T C 18: 62,312,127 (GRCm39) I233V probably damaging Het
Alox5 T A 6: 116,437,924 (GRCm39) Y21F possibly damaging Het
Ank2 T C 3: 126,739,798 (GRCm39) T1942A probably benign Het
Aoc1l1 T C 6: 48,953,064 (GRCm39) S330P probably damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Bckdk C T 7: 127,505,591 (GRCm39) A238V probably benign Het
Casp1 A G 9: 5,299,333 (GRCm39) T21A probably benign Het
Ccdc39 T C 3: 33,880,671 (GRCm39) H432R probably benign Het
Cttnbp2 A C 6: 18,405,248 (GRCm39) C574G probably damaging Het
Cyp1a1 T C 9: 57,607,432 (GRCm39) V20A probably benign Het
Dhx38 C T 8: 110,279,763 (GRCm39) V976I probably damaging Het
Dnah6 A G 6: 73,126,467 (GRCm39) S1287P possibly damaging Het
Dnttip2 T C 3: 122,070,146 (GRCm39) S454P probably damaging Het
Drp2 A T X: 133,335,884 (GRCm39) probably benign Het
Flcn C T 11: 59,694,610 (GRCm39) V121I possibly damaging Het
Fmo1 G C 1: 162,661,217 (GRCm39) Y355* probably null Het
Git2 T A 5: 114,902,727 (GRCm39) H138L probably damaging Het
Gpr162 G A 6: 124,838,658 (GRCm39) probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnt1 T C 2: 25,797,638 (GRCm39) I881T probably damaging Het
Lama3 T A 18: 12,646,747 (GRCm39) C1754S probably damaging Het
Mpp3 A T 11: 101,914,246 (GRCm39) D116E probably benign Het
Myh11 T C 16: 14,036,747 (GRCm39) D985G probably damaging Het
Necap1 T C 6: 122,864,337 (GRCm39) V273A probably damaging Het
Nlrc5 T C 8: 95,203,192 (GRCm39) S431P probably damaging Het
Nutm2 A T 13: 50,623,920 (GRCm39) T206S probably benign Het
Or2d3 GAACAACAACAA GAACAACAA 7: 106,490,567 (GRCm39) probably benign Het
Or5p79 C T 7: 108,221,096 (GRCm39) L26F probably benign Het
Or8g19 G A 9: 39,055,725 (GRCm39) A110T probably damaging Het
Podnl1 G A 8: 84,853,897 (GRCm39) R89H probably benign Het
Prpf38b T C 3: 108,818,487 (GRCm39) Y91C probably damaging Het
Radil C T 5: 142,480,560 (GRCm39) A632T probably benign Het
Rpap2 G A 5: 107,749,661 (GRCm39) V62I possibly damaging Het
Sdf2 C T 11: 78,141,863 (GRCm39) T66I probably damaging Het
Specc1 T C 11: 62,009,356 (GRCm39) S371P probably damaging Het
Suco T C 1: 161,674,799 (GRCm39) E416G probably damaging Het
Sys1 T C 2: 164,303,315 (GRCm39) W10R probably damaging Het
Tars3 C T 7: 65,332,567 (GRCm39) T556M probably damaging Het
Tcirg1 C T 19: 3,949,069 (GRCm39) D407N probably damaging Het
Tefm G T 11: 80,031,156 (GRCm39) L27I probably benign Het
Tenm2 A G 11: 35,918,225 (GRCm39) I1845T probably benign Het
Tfam A T 10: 71,069,233 (GRCm39) I119N probably damaging Het
Tle1 ACAGGTTTCTTCAGGTTTCTT ACAGGTTTCTT 4: 72,036,400 (GRCm39) probably benign Het
Trpm6 T C 19: 18,804,889 (GRCm39) I947T probably damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Usp54 T C 14: 20,611,202 (GRCm39) T1205A probably benign Het
Vmn2r25 T C 6: 123,805,496 (GRCm39) R454G probably damaging Het
Xylb T C 9: 119,217,781 (GRCm39) V477A probably benign 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
IGL03064:Phactr2 APN 10 13,264,457 (GRCm39) utr 5 prime probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TGTCTGAGAGCTCTCCCTTAAGAC -3'
(R):5'- TGCTGCCTCTCACATTCGAG -3'

Sequencing Primer
(F):5'- TGAGAGCTCTCCCTTAAGACTAGGC -3'
(R):5'- TCTCACATTCGAGGCGTG -3'
Posted On 2015-07-06