Incidental Mutation 'R4080:Phtf2'
ID 500483
Institutional Source Beutler Lab
Gene Symbol Phtf2
Ensembl Gene ENSMUSG00000039987
Gene Name putative homeodomain transcription factor 2
Synonyms 1110054G21Rik, 9530062N20Rik
MMRRC Submission 040856-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4080 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 20963662-21087122 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 21018294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 16 (I16F)
Ref Sequence ENSEMBL: ENSMUSP00000120222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118174] [ENSMUST00000156044]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000118174
AA Change: I16F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000114087
Gene: ENSMUSG00000039987
AA Change: I16F

DomainStartEndE-ValueType
Pfam:Phtf-FEM1B_bdg 5 154 1.3e-76 PFAM
low complexity region 340 359 N/A INTRINSIC
transmembrane domain 457 479 N/A INTRINSIC
transmembrane domain 511 533 N/A INTRINSIC
transmembrane domain 596 618 N/A INTRINSIC
transmembrane domain 628 647 N/A INTRINSIC
transmembrane domain 715 737 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133784
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139325
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140147
Predicted Effect probably damaging
Transcript: ENSMUST00000156044
AA Change: I16F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120222
Gene: ENSMUSG00000039987
AA Change: I16F

DomainStartEndE-ValueType
Pfam:Phtf-FEM1B_bdg 3 46 3.6e-18 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,109,497 (GRCm39) D324E possibly damaging Het
Adam7 T C 14: 68,757,988 (GRCm39) T245A probably benign Het
Adgrf3 G A 5: 30,402,367 (GRCm39) Q554* probably null Het
Aim2 T C 1: 173,287,417 (GRCm39) probably null Het
Arhgef1 G T 7: 24,625,271 (GRCm39) D850Y probably damaging Het
Aspm C A 1: 139,398,493 (GRCm39) Q1024K probably damaging Het
C7 T C 15: 5,019,946 (GRCm39) S734G probably benign Het
Ccdc158 A T 5: 92,771,255 (GRCm39) S987T probably benign Het
Chrna2 C A 14: 66,380,873 (GRCm39) Y47* probably null Het
Chrna2 G T 14: 66,380,866 (GRCm39) G45V probably benign Het
Clec2g C A 6: 128,958,287 (GRCm39) Q117K probably damaging Het
Cntnap5a A G 1: 116,029,304 (GRCm39) S253G probably benign Het
Cttn T A 7: 144,011,461 (GRCm39) D116V probably damaging Het
Cyp2c40 A G 19: 39,790,973 (GRCm39) V286A probably benign Het
Dcbld2 T A 16: 58,285,736 (GRCm39) S632T probably damaging Het
Dscam A T 16: 96,484,972 (GRCm39) N1118K probably benign Het
Eif2a C T 3: 58,447,050 (GRCm39) T92M possibly damaging Het
Frmpd1 T A 4: 45,284,382 (GRCm39) C1068S probably benign Het
Fstl1 G A 16: 37,642,965 (GRCm39) V110I probably benign Het
Gpat2 T C 2: 127,275,542 (GRCm39) I465T probably damaging Het
Gpr137 C T 19: 6,917,791 (GRCm39) probably benign Het
Hgsnat A G 8: 26,436,371 (GRCm39) I561T probably benign Het
Ift74 T A 4: 94,541,149 (GRCm39) probably null Het
Ilf3 A G 9: 21,314,430 (GRCm39) probably null Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lrrc41 C A 4: 115,937,743 (GRCm39) probably null Het
Myh11 C A 16: 14,041,923 (GRCm39) R700L possibly damaging Het
Myo16 A G 8: 10,612,240 (GRCm39) D1295G probably damaging Het
Myo5b A G 18: 74,873,559 (GRCm39) M1488V probably benign Het
Naip6 A T 13: 100,435,815 (GRCm39) Y903N probably damaging Het
Nek6 A G 2: 38,440,649 (GRCm39) H19R probably damaging Het
Nktr A C 9: 121,570,192 (GRCm39) T127P probably damaging Het
Noc4l A T 5: 110,797,738 (GRCm39) D335E probably benign Het
Nsd1 A G 13: 55,449,622 (GRCm39) D1993G probably damaging Het
Or1ad1 G A 11: 50,875,683 (GRCm39) D52N probably damaging Het
Or5h22 A T 16: 58,894,619 (GRCm39) F275I probably damaging Het
Pabpc2 A T 18: 39,908,583 (GRCm39) Q616L possibly damaging Het
Pcdhga4 A T 18: 37,818,832 (GRCm39) D127V probably damaging Het
Phrf1 T C 7: 140,839,633 (GRCm39) probably benign Het
Plekhg3 G T 12: 76,624,755 (GRCm39) R1200L probably benign Het
Plod3 G C 5: 137,017,000 (GRCm39) A50P probably benign Het
Prorp G T 12: 55,351,398 (GRCm39) V236F possibly damaging Het
Prss12 A G 3: 123,279,134 (GRCm39) N404D probably benign Het
Ptch2 C G 4: 116,968,403 (GRCm39) A926G probably damaging Het
Ptpra T C 2: 30,333,317 (GRCm39) F6L probably damaging Het
Reck T C 4: 43,942,293 (GRCm39) I853T possibly damaging Het
Reep6 G A 10: 80,165,996 (GRCm39) probably benign Het
Rex2 T A 4: 147,143,154 (GRCm39) S547R probably benign Het
Rgs22 C T 15: 36,107,222 (GRCm39) E55K probably damaging Het
Rtl6 T C 15: 84,441,202 (GRCm39) T65A possibly damaging Het
Scarb1 G T 5: 125,354,859 (GRCm39) P491Q probably damaging Het
Scfd1 A G 12: 51,478,302 (GRCm39) S505G probably benign Het
Scube1 T G 15: 83,492,948 (GRCm39) Q904P probably damaging Het
Sis T C 3: 72,828,517 (GRCm39) Y1186C probably damaging Het
Spta1 A G 1: 174,041,632 (GRCm39) D1334G probably benign Het
Spty2d1 T C 7: 46,648,329 (GRCm39) E200G probably damaging Het
Stard13 C A 5: 151,016,294 (GRCm39) probably null Het
Sybu T C 15: 44,582,339 (GRCm39) K95R probably damaging Het
Trappc9 T A 15: 72,813,796 (GRCm39) D488V probably damaging Het
Txk G A 5: 72,858,006 (GRCm39) P381S probably damaging Het
Ubr2 A T 17: 47,299,648 (GRCm39) M198K probably benign Het
Unc5a A T 13: 55,152,294 (GRCm39) T786S possibly damaging Het
Unc93b1 G A 19: 3,991,959 (GRCm39) R231Q probably damaging Het
Wfdc1 T A 8: 120,410,532 (GRCm39) probably null Het
Zfp667 T G 7: 6,308,105 (GRCm39) C258G possibly damaging Het
Zfr G A 15: 12,162,319 (GRCm39) R823H probably benign Het
Other mutations in Phtf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01443:Phtf2 APN 5 20,987,265 (GRCm39) unclassified probably benign
IGL01789:Phtf2 APN 5 20,999,372 (GRCm39) missense probably benign 0.00
IGL01816:Phtf2 APN 5 21,008,274 (GRCm39) missense probably damaging 1.00
IGL02266:Phtf2 APN 5 21,010,797 (GRCm39) missense probably damaging 1.00
IGL02295:Phtf2 APN 5 21,012,428 (GRCm39) missense probably damaging 1.00
IGL03086:Phtf2 APN 5 20,969,273 (GRCm39) missense probably damaging 0.99
IGL03179:Phtf2 APN 5 20,987,397 (GRCm39) missense probably damaging 1.00
IGL03192:Phtf2 APN 5 20,966,717 (GRCm39) missense probably damaging 0.99
IGL03256:Phtf2 APN 5 21,008,250 (GRCm39) missense probably damaging 0.98
PIT4480001:Phtf2 UTSW 5 21,018,242 (GRCm39) missense probably damaging 1.00
PIT4802001:Phtf2 UTSW 5 21,006,904 (GRCm39) missense probably damaging 0.96
R0589:Phtf2 UTSW 5 21,018,249 (GRCm39) nonsense probably null
R1732:Phtf2 UTSW 5 20,994,625 (GRCm39) critical splice donor site probably null
R3151:Phtf2 UTSW 5 20,970,802 (GRCm39) missense probably damaging 1.00
R3791:Phtf2 UTSW 5 20,987,296 (GRCm39) missense probably damaging 1.00
R3843:Phtf2 UTSW 5 20,979,020 (GRCm39) missense probably damaging 1.00
R4569:Phtf2 UTSW 5 20,994,593 (GRCm39) intron probably benign
R4627:Phtf2 UTSW 5 20,978,738 (GRCm39) missense probably damaging 1.00
R4901:Phtf2 UTSW 5 21,010,722 (GRCm39) missense possibly damaging 0.73
R5131:Phtf2 UTSW 5 20,979,050 (GRCm39) missense probably damaging 1.00
R5276:Phtf2 UTSW 5 20,977,195 (GRCm39) missense probably benign 0.19
R5871:Phtf2 UTSW 5 20,999,399 (GRCm39) missense probably benign 0.16
R5941:Phtf2 UTSW 5 20,979,071 (GRCm39) missense probably damaging 0.98
R5964:Phtf2 UTSW 5 20,980,932 (GRCm39) missense probably damaging 1.00
R6318:Phtf2 UTSW 5 21,006,939 (GRCm39) missense probably damaging 1.00
R6621:Phtf2 UTSW 5 21,017,954 (GRCm39) intron probably benign
R6684:Phtf2 UTSW 5 21,017,937 (GRCm39) critical splice donor site probably benign
R7003:Phtf2 UTSW 5 20,999,399 (GRCm39) missense probably benign 0.16
R7253:Phtf2 UTSW 5 20,970,856 (GRCm39) missense possibly damaging 0.73
R7566:Phtf2 UTSW 5 20,970,799 (GRCm39) missense probably damaging 1.00
R7654:Phtf2 UTSW 5 20,987,459 (GRCm39) missense probably damaging 0.99
R8117:Phtf2 UTSW 5 21,007,038 (GRCm39) missense probably benign 0.30
R8514:Phtf2 UTSW 5 21,007,030 (GRCm39) missense possibly damaging 0.49
R8921:Phtf2 UTSW 5 21,008,275 (GRCm39) missense probably benign 0.00
R8975:Phtf2 UTSW 5 20,969,249 (GRCm39) missense probably damaging 1.00
R9028:Phtf2 UTSW 5 20,999,373 (GRCm39) missense probably benign
R9164:Phtf2 UTSW 5 21,008,190 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CTGTACAGAGCAATGACAGCATC -3'
(R):5'- CTGACAAGCTGCAAGGATGG -3'

Sequencing Primer
(F):5'- TACAGAGCAATGACAGCATCAGAGAG -3'
(R):5'- CAAGGATGGTGCTAATACTGCTC -3'
Posted On 2017-12-01