Incidental Mutation 'R9199:Pheta2'
ID 698123
Institutional Source Beutler Lab
Gene Symbol Pheta2
Ensembl Gene ENSMUSG00000049687
Gene Name PH domain containing endocytic trafficking adaptor 2
Synonyms Fam109b, Ses2, C920005C14Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R9199 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 82223148-82229911 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 82227877 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 132 (E132V)
Ref Sequence ENSEMBL: ENSMUSP00000060598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023086] [ENSMUST00000023088] [ENSMUST00000050349] [ENSMUST00000159054] [ENSMUST00000160994] [ENSMUST00000161178] [ENSMUST00000161892] [ENSMUST00000229388] [ENSMUST00000229733] [ENSMUST00000229948] [ENSMUST00000230360] [ENSMUST00000230380]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000023086
SMART Domains Protein: ENSMUSP00000023086
Gene: ENSMUSG00000022452

DomainStartEndE-ValueType
Pfam:DDDD 33 107 1.7e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000023088
SMART Domains Protein: ENSMUSP00000023088
Gene: ENSMUSG00000022453

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Melibiase_2 25 394 2.1e-171 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000050349
AA Change: E132V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060598
Gene: ENSMUSG00000049687
AA Change: E132V

DomainStartEndE-ValueType
PH 18 123 1.02e-10 SMART
coiled coil region 128 150 N/A INTRINSIC
Blast:PH 192 242 1e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000159054
SMART Domains Protein: ENSMUSP00000125429
Gene: ENSMUSG00000022452

DomainStartEndE-ValueType
Pfam:DDDD 8 70 1.9e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160994
Predicted Effect probably damaging
Transcript: ENSMUST00000161178
AA Change: E132V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124703
Gene: ENSMUSG00000049687
AA Change: E132V

DomainStartEndE-ValueType
PH 18 123 1.02e-10 SMART
coiled coil region 128 150 N/A INTRINSIC
Blast:PH 192 242 1e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000161892
Predicted Effect probably benign
Transcript: ENSMUST00000229388
Predicted Effect probably benign
Transcript: ENSMUST00000229733
Predicted Effect probably benign
Transcript: ENSMUST00000229948
Predicted Effect probably benign
Transcript: ENSMUST00000230360
Predicted Effect probably benign
Transcript: ENSMUST00000230380
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik A T 16: 88,971,654 (GRCm39) probably benign Het
Abca9 A T 11: 110,056,770 (GRCm39) C17S possibly damaging Het
Acan T G 7: 78,736,057 (GRCm39) F168V probably damaging Het
Acp7 A G 7: 28,316,591 (GRCm39) L128P probably benign Het
Agtpbp1 C A 13: 59,613,808 (GRCm39) M1044I probably benign Het
Arhgef3 A G 14: 27,122,244 (GRCm39) Q361R possibly damaging Het
Brdt A T 5: 107,498,029 (GRCm39) R235* probably null Het
Cacna1d A G 14: 29,764,893 (GRCm39) S2013P probably benign Het
Cacna2d4 T A 6: 119,244,787 (GRCm39) D274E probably benign Het
Ccdc24 T A 4: 117,728,313 (GRCm39) I144F probably null Het
Ceacam5 C G 7: 17,479,350 (GRCm39) L156V probably benign Het
Cenpn G A 8: 117,664,014 (GRCm39) probably null Het
Cfap69 A T 5: 5,668,952 (GRCm39) V385E possibly damaging Het
Cldnd1 A G 16: 58,553,070 (GRCm39) H177R probably damaging Het
Cr1l A T 1: 194,786,177 (GRCm39) V439D probably benign Het
Cul2 A G 18: 3,423,577 (GRCm39) N329S probably benign Het
Cyp2c66 A G 19: 39,130,800 (GRCm39) K138R probably benign Het
Ddx46 G A 13: 55,825,342 (GRCm39) E996K probably damaging Het
Dnah14 A G 1: 181,478,566 (GRCm39) K1444E possibly damaging Het
Evl G A 12: 108,647,814 (GRCm39) probably null Het
Flnc C T 6: 29,441,490 (GRCm39) T424I probably benign Het
Gadd45gip1 T A 8: 85,559,128 (GRCm39) V70E probably damaging Het
Garem2 A G 5: 30,319,471 (GRCm39) H311R probably damaging Het
Gm32742 G C 9: 51,060,607 (GRCm39) H899D possibly damaging Het
Gm5148 C T 3: 37,768,989 (GRCm39) C77Y probably benign Het
Gm5460 A G 14: 33,758,393 (GRCm39) D141G possibly damaging Het
Kcnj8 T C 6: 142,512,118 (GRCm39) N163S probably damaging Het
Klri1 A T 6: 129,674,264 (GRCm39) *249R probably null Het
Kmt5b A G 19: 3,865,525 (GRCm39) D863G probably damaging Het
Ltbp2 G T 12: 84,832,750 (GRCm39) T1538K probably benign Het
Or51ah3 G A 7: 103,210,143 (GRCm39) G153D probably damaging Het
Or5b120 A G 19: 13,480,436 (GRCm39) H243R probably damaging Het
Pramel16 A G 4: 143,675,656 (GRCm39) L390P probably damaging Het
Ptchd3 A G 11: 121,721,741 (GRCm39) I205V probably benign Het
Rab8b G A 9: 66,758,641 (GRCm39) A152V probably damaging Het
Rasef T C 4: 73,658,625 (GRCm39) D343G possibly damaging Het
Rcan2 G A 17: 44,264,423 (GRCm39) V28I probably benign Het
Sec1 G A 7: 45,328,009 (GRCm39) T346M probably benign Het
Sgk1 T A 10: 21,758,558 (GRCm39) N7K probably damaging Het
Slc39a12 A T 2: 14,394,321 (GRCm39) I64F possibly damaging Het
Spock3 A G 8: 63,798,764 (GRCm39) T259A probably damaging Het
Sypl1 A T 12: 33,016,463 (GRCm39) probably benign Het
Teddm2 G T 1: 153,726,767 (GRCm39) Q36K probably damaging Het
Tlr1 A G 5: 65,083,534 (GRCm39) S348P possibly damaging Het
Ttll12 A G 15: 83,466,559 (GRCm39) F336S probably damaging Het
Ttll8 G A 15: 88,798,818 (GRCm39) P639L probably benign Het
Usp24 T C 4: 106,244,681 (GRCm39) V1212A probably damaging Het
Vcan C A 13: 89,838,615 (GRCm39) G2310* probably null Het
Vmn2r104 A T 17: 20,262,097 (GRCm39) N344K probably damaging Het
Zfp281 A G 1: 136,553,643 (GRCm39) N207S probably benign Het
Zfp534 T A 4: 147,760,439 (GRCm39) M77L probably benign Het
Zfp819 G A 7: 43,267,203 (GRCm39) S562N probably benign Het
Zmym1 C T 4: 126,944,623 (GRCm39) C188Y possibly damaging Het
Other mutations in Pheta2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02178:Pheta2 APN 15 82,227,527 (GRCm39) missense possibly damaging 0.76
R0357:Pheta2 UTSW 15 82,227,517 (GRCm39) missense probably damaging 1.00
R1324:Pheta2 UTSW 15 82,227,699 (GRCm39) missense probably damaging 1.00
R6218:Pheta2 UTSW 15 82,227,917 (GRCm39) missense probably benign 0.01
R8890:Pheta2 UTSW 15 82,227,618 (GRCm39) missense probably damaging 1.00
R9211:Pheta2 UTSW 15 82,225,227 (GRCm39) unclassified probably benign
R9709:Pheta2 UTSW 15 82,227,537 (GRCm39) missense probably damaging 1.00
R9709:Pheta2 UTSW 15 82,227,535 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGGTATTGGAAGGCTGCAC -3'
(R):5'- CTGTAACTCCCACTCGGTCAAATC -3'

Sequencing Primer
(F):5'- TATTGGAAGGCTGCACGGTGG -3'
(R):5'- GTCAAATCCCGACCTATTGGC -3'
Posted On 2022-02-07