Incidental Mutation 'R1865:Phip'
ID 208646
Institutional Source Beutler Lab
Gene Symbol Phip
Ensembl Gene ENSMUSG00000032253
Gene Name pleckstrin homology domain interacting protein
Synonyms Ndrp, 4632404O06Rik, Wdr11, 2810004D21Rik
MMRRC Submission 039888-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1865 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 82748212-82857569 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 82827845 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 127 (V127E)
Ref Sequence ENSEMBL: ENSMUSP00000140445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034787] [ENSMUST00000189985]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000034787
AA Change: V189E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034787
Gene: ENSMUSG00000032253
AA Change: V189E

DomainStartEndE-ValueType
WD40 172 211 1.5e-8 SMART
WD40 214 253 4.1e-9 SMART
WD40 256 299 3.5e-7 SMART
WD40 310 349 1.4e-1 SMART
WD40 354 393 6.6e-10 SMART
WD40 408 452 1.4e-2 SMART
WD40 455 495 3.4e-10 SMART
WD40 498 542 6.6e-2 SMART
low complexity region 802 813 N/A INTRINSIC
low complexity region 841 854 N/A INTRINSIC
low complexity region 865 877 N/A INTRINSIC
coiled coil region 881 907 N/A INTRINSIC
low complexity region 928 941 N/A INTRINSIC
BROMO 1158 1261 3.5e-11 SMART
BROMO 1318 1423 4.1e-30 SMART
low complexity region 1438 1463 N/A INTRINSIC
low complexity region 1500 1513 N/A INTRINSIC
low complexity region 1708 1721 N/A INTRINSIC
low complexity region 1752 1758 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187021
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188828
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188868
Predicted Effect probably damaging
Transcript: ENSMUST00000189985
AA Change: V127E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000140445
Gene: ENSMUSG00000032253
AA Change: V127E

DomainStartEndE-ValueType
WD40 110 149 1.5e-8 SMART
WD40 152 191 4e-9 SMART
WD40 194 237 3.5e-7 SMART
WD40 248 287 1.4e-1 SMART
WD40 292 331 6.5e-10 SMART
Meta Mutation Damage Score 0.9747 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.3%
Validation Efficiency 98% (99/101)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds to the insulin receptor substrate 1 protein and regulates glucose transporter translocation in skeletal muscle cells. The encoded protein may also regulate growth and survival of pancreatic beta cells. Elevated copy number of this gene may be associated with melanoma severity and the encoded protein may promote melanoma metastasis in human patients. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit postnatal and premature lethality associated with reduced body size, small myocardial cells and hepatocytes, hypoglycemia, increased insulin sensitivity, and reduced cell growth. [provided by MGI curators]
Allele List at MGI

All alleles(34) : Gene trapped(34)

Other mutations in this stock
Total: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012P17Rik A G 1: 158,797,094 (GRCm39) noncoding transcript Het
Aatk G A 11: 119,901,048 (GRCm39) T1059M probably benign Het
Adgrg2 G A X: 159,265,347 (GRCm39) M532I probably benign Het
Agrn GCTCT GCTCTCT 4: 156,250,976 (GRCm39) probably null Het
Ahcyl2 G A 6: 29,908,354 (GRCm39) V575M probably damaging Het
Apobr A G 7: 126,185,140 (GRCm39) D217G probably benign Het
Aqp9 A C 9: 71,019,658 (GRCm39) N267K probably benign Het
Arap2 A G 5: 62,855,606 (GRCm39) V610A probably damaging Het
Arhgap21 T C 2: 20,866,015 (GRCm39) E893G probably damaging Het
Atn1 T C 6: 124,722,259 (GRCm39) probably benign Het
Bcl7a A T 5: 123,494,032 (GRCm39) D68V probably damaging Het
Cbl A C 9: 44,075,462 (GRCm39) C394W probably damaging Het
Ccdc18 T A 5: 108,341,668 (GRCm39) D854E probably benign Het
Ccdc93 A T 1: 121,426,956 (GRCm39) E580V probably damaging Het
Cd180 T A 13: 102,842,517 (GRCm39) M521K probably benign Het
Cd300ld2 T G 11: 114,903,444 (GRCm39) probably benign Het
Cdh10 T C 15: 18,899,690 (GRCm39) F6L probably benign Het
Cep78 A G 19: 15,933,368 (GRCm39) S737P probably damaging Het
Ces1f G T 8: 94,000,893 (GRCm39) probably benign Het
Clcn1 T A 6: 42,282,475 (GRCm39) D442E probably damaging Het
Col20a1 T C 2: 180,657,606 (GRCm39) L1250P possibly damaging Het
Crispld2 G A 8: 120,737,306 (GRCm39) G19E probably benign Het
Ctbp2 C T 7: 132,592,283 (GRCm39) A849T probably benign Het
Cts6 A G 13: 61,349,393 (GRCm39) I105T probably benign Het
Cul4a A G 8: 13,192,589 (GRCm39) T617A possibly damaging Het
Cyp2c68 G T 19: 39,722,733 (GRCm39) R272S probably benign Het
Cystm1 A G 18: 36,499,729 (GRCm39) Y48C unknown Het
Dach1 T A 14: 98,077,645 (GRCm39) R579S possibly damaging Het
Ddrgk1 A T 2: 130,496,215 (GRCm39) I270N probably damaging Het
Dhx32 A T 7: 133,339,025 (GRCm39) C197S probably benign Het
Dnah10 A C 5: 124,909,590 (GRCm39) probably null Het
Ecm2 T C 13: 49,683,621 (GRCm39) V533A probably benign Het
Eif4g1 A G 16: 20,497,398 (GRCm39) T202A probably damaging Het
Ephb4 A T 5: 137,361,572 (GRCm39) Q525L possibly damaging Het
F2 T C 2: 91,465,539 (GRCm39) D82G probably benign Het
Fam184b G T 5: 45,689,231 (GRCm39) N868K possibly damaging Het
Fbxo25 A G 8: 13,985,248 (GRCm39) T314A probably damaging Het
Folh1 A G 7: 86,375,114 (GRCm39) M624T possibly damaging Het
Gabra5 G A 7: 57,138,940 (GRCm39) R71* probably null Het
Gmpr G T 13: 45,696,101 (GRCm39) V278F probably damaging Het
Hmcn1 A T 1: 150,479,563 (GRCm39) C4634S probably damaging Het
Hspa5 T C 2: 34,664,553 (GRCm39) F336L probably damaging Het
Igfbp4 G A 11: 98,932,512 (GRCm39) G64R probably damaging Het
Itch G A 2: 155,010,666 (GRCm39) V45I probably damaging Het
Itgb1 T A 8: 129,446,938 (GRCm39) F484L probably benign Het
Itpr3 A G 17: 27,338,997 (GRCm39) I2593V probably benign Het
Kcnj8 T A 6: 142,515,966 (GRCm39) H47L probably damaging Het
Lcn2 T C 2: 32,275,434 (GRCm39) T194A possibly damaging Het
Mast4 A T 13: 102,930,625 (GRCm39) V209D probably damaging Het
Matn3 T A 12: 9,002,041 (GRCm39) D84E probably damaging Het
Mcm7 T A 5: 138,168,637 (GRCm39) Q18L possibly damaging Het
Mctp1 G A 13: 76,533,267 (GRCm39) C205Y possibly damaging Het
Megf11 A G 9: 64,587,581 (GRCm39) T460A probably benign Het
Mlh1 A T 9: 111,086,092 (GRCm39) probably benign Het
Mylk T A 16: 34,732,600 (GRCm39) S627T probably benign Het
Nat2 A G 8: 67,954,204 (GRCm39) M105V possibly damaging Het
Nav2 A G 7: 49,197,943 (GRCm39) T2A possibly damaging Het
Ndst3 A T 3: 123,465,120 (GRCm39) I284N probably damaging Het
Nfix A G 8: 85,498,904 (GRCm39) V23A possibly damaging Het
Nr2f1 T C 13: 78,338,045 (GRCm39) Y200C probably damaging Het
Or14a258 T C 7: 86,035,769 (GRCm39) Y33C probably damaging Het
Or2g25 T C 17: 37,970,754 (GRCm39) I157V possibly damaging Het
Or6b13 G A 7: 139,782,285 (GRCm39) R133C probably damaging Het
Or8d1b T C 9: 38,887,200 (GRCm39) V76A probably benign Het
Or8u8 T G 2: 86,011,882 (GRCm39) D191A probably damaging Het
Pcdhb21 T C 18: 37,647,648 (GRCm39) V259A possibly damaging Het
Pik3r5 A G 11: 68,383,318 (GRCm39) D379G probably damaging Het
Pkdrej A T 15: 85,704,525 (GRCm39) C470* probably null Het
Plxnd1 A T 6: 115,946,402 (GRCm39) probably null Het
Polr1a G A 6: 71,943,508 (GRCm39) V1248I probably damaging Het
Pou3f2 A T 4: 22,486,917 (GRCm39) C405* probably null Het
Ppp1r3a A T 6: 14,718,404 (GRCm39) S837T probably damaging Het
Rest T A 5: 77,428,745 (GRCm39) V388E probably damaging Het
Rnft2 A T 5: 118,370,540 (GRCm39) W220R probably damaging Het
Rnpc3 A T 3: 113,415,559 (GRCm39) Y107* probably null Het
Senp8 G A 9: 59,644,835 (GRCm39) S94F probably damaging Het
Ski A G 4: 155,306,698 (GRCm39) S94P possibly damaging Het
Skint8 A G 4: 111,794,192 (GRCm39) D194G probably damaging Het
Slc35c2 C A 2: 165,120,303 (GRCm39) R232L probably benign Het
Slc43a3 T A 2: 84,777,245 (GRCm39) V198D possibly damaging Het
Slc8b1 A T 5: 120,667,717 (GRCm39) N467I probably damaging Het
Srbd1 A G 17: 86,422,732 (GRCm39) probably benign Het
Sstr3 T C 15: 78,424,168 (GRCm39) H193R probably damaging Het
Sv2c A C 13: 96,113,283 (GRCm39) S555R probably benign Het
Tagln3 A G 16: 45,532,013 (GRCm39) V173A possibly damaging Het
Tctn2 C A 5: 124,757,143 (GRCm39) noncoding transcript Het
Tfap2a G T 13: 40,881,884 (GRCm39) H167Q probably damaging Het
Tmem213 A G 6: 38,086,487 (GRCm39) T48A possibly damaging Het
Tmem30c A G 16: 57,090,352 (GRCm39) probably benign Het
Tmem37 A G 1: 119,995,952 (GRCm39) S42P probably damaging Het
Tnxb C T 17: 34,922,431 (GRCm39) Q2415* probably null Het
Ttyh1 T C 7: 4,122,730 (GRCm39) L26P probably damaging Het
Ubn2 T A 6: 38,417,425 (GRCm39) D154E possibly damaging Het
Vdac3 A T 8: 23,070,553 (GRCm39) Y119* probably null Het
Vmn2r58 T C 7: 41,486,682 (GRCm39) I738V possibly damaging Het
Zfp704 A G 3: 9,539,551 (GRCm39) probably benign Het
Znfx1 G A 2: 166,880,729 (GRCm39) R352W probably damaging Het
Other mutations in Phip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00809:Phip APN 9 82,753,356 (GRCm39) missense probably damaging 0.99
IGL01510:Phip APN 9 82,795,924 (GRCm39) missense probably benign 0.01
IGL01916:Phip APN 9 82,772,522 (GRCm39) missense possibly damaging 0.61
IGL02068:Phip APN 9 82,827,861 (GRCm39) missense probably damaging 1.00
IGL02089:Phip APN 9 82,753,372 (GRCm39) missense probably damaging 1.00
IGL02121:Phip APN 9 82,775,423 (GRCm39) missense probably damaging 1.00
IGL02132:Phip APN 9 82,763,394 (GRCm39) missense possibly damaging 0.91
IGL02146:Phip APN 9 82,763,771 (GRCm39) missense probably benign 0.05
IGL02282:Phip APN 9 82,795,743 (GRCm39) missense probably benign 0.09
IGL02341:Phip APN 9 82,814,936 (GRCm39) missense probably damaging 1.00
IGL02342:Phip APN 9 82,768,745 (GRCm39) missense probably damaging 1.00
IGL02470:Phip APN 9 82,772,507 (GRCm39) missense possibly damaging 0.69
IGL02585:Phip APN 9 82,785,241 (GRCm39) missense probably benign 0.03
IGL03271:Phip APN 9 82,766,877 (GRCm39) splice site probably benign
3-1:Phip UTSW 9 82,768,724 (GRCm39) missense probably damaging 1.00
R0102:Phip UTSW 9 82,787,845 (GRCm39) splice site probably null
R0102:Phip UTSW 9 82,787,845 (GRCm39) splice site probably null
R0137:Phip UTSW 9 82,809,244 (GRCm39) splice site probably null
R0268:Phip UTSW 9 82,753,341 (GRCm39) missense probably damaging 1.00
R0366:Phip UTSW 9 82,808,460 (GRCm39) missense probably damaging 1.00
R0421:Phip UTSW 9 82,808,510 (GRCm39) missense probably damaging 1.00
R0481:Phip UTSW 9 82,758,769 (GRCm39) splice site probably benign
R0883:Phip UTSW 9 82,758,274 (GRCm39) missense probably benign 0.01
R0885:Phip UTSW 9 82,757,448 (GRCm39) missense probably benign 0.06
R1300:Phip UTSW 9 82,758,800 (GRCm39) missense probably benign 0.00
R1434:Phip UTSW 9 82,841,658 (GRCm39) missense probably damaging 0.99
R1448:Phip UTSW 9 82,797,476 (GRCm39) missense possibly damaging 0.92
R1588:Phip UTSW 9 82,782,881 (GRCm39) missense probably damaging 1.00
R1619:Phip UTSW 9 82,753,502 (GRCm39) missense probably benign 0.20
R1658:Phip UTSW 9 82,753,551 (GRCm39) missense probably benign
R1688:Phip UTSW 9 82,753,710 (GRCm39) missense probably benign
R1773:Phip UTSW 9 82,758,242 (GRCm39) missense probably benign
R1934:Phip UTSW 9 82,785,235 (GRCm39) missense probably benign 0.11
R2070:Phip UTSW 9 82,757,352 (GRCm39) missense probably benign
R2096:Phip UTSW 9 82,797,392 (GRCm39) missense possibly damaging 0.95
R2097:Phip UTSW 9 82,797,392 (GRCm39) missense possibly damaging 0.95
R2099:Phip UTSW 9 82,797,392 (GRCm39) missense possibly damaging 0.95
R2192:Phip UTSW 9 82,753,868 (GRCm39) missense probably damaging 0.99
R2402:Phip UTSW 9 82,757,358 (GRCm39) missense probably benign
R2447:Phip UTSW 9 82,797,452 (GRCm39) missense probably damaging 0.99
R2504:Phip UTSW 9 82,797,392 (GRCm39) missense possibly damaging 0.95
R2507:Phip UTSW 9 82,797,392 (GRCm39) missense possibly damaging 0.95
R2508:Phip UTSW 9 82,797,392 (GRCm39) missense possibly damaging 0.95
R3706:Phip UTSW 9 82,782,796 (GRCm39) missense probably benign 0.02
R3829:Phip UTSW 9 82,753,698 (GRCm39) missense probably benign
R3846:Phip UTSW 9 82,758,179 (GRCm39) nonsense probably null
R4301:Phip UTSW 9 82,841,766 (GRCm39) nonsense probably null
R4366:Phip UTSW 9 82,782,922 (GRCm39) intron probably benign
R4748:Phip UTSW 9 82,790,922 (GRCm39) missense probably benign 0.01
R4895:Phip UTSW 9 82,841,648 (GRCm39) missense probably benign 0.20
R5001:Phip UTSW 9 82,778,072 (GRCm39) splice site probably null
R5094:Phip UTSW 9 82,753,897 (GRCm39) missense probably benign
R5181:Phip UTSW 9 82,753,243 (GRCm39) utr 3 prime probably benign
R5194:Phip UTSW 9 82,790,915 (GRCm39) missense probably benign 0.03
R5291:Phip UTSW 9 82,827,936 (GRCm39) missense probably damaging 1.00
R5335:Phip UTSW 9 82,782,809 (GRCm39) missense possibly damaging 0.93
R5458:Phip UTSW 9 82,808,553 (GRCm39) missense probably benign 0.40
R5704:Phip UTSW 9 82,753,408 (GRCm39) missense probably damaging 0.97
R5866:Phip UTSW 9 82,772,203 (GRCm39) missense probably benign
R5870:Phip UTSW 9 82,790,730 (GRCm39) splice site probably benign
R5890:Phip UTSW 9 82,789,005 (GRCm39) missense probably benign 0.00
R6232:Phip UTSW 9 82,785,234 (GRCm39) missense probably benign
R6379:Phip UTSW 9 82,795,910 (GRCm39) missense probably damaging 0.98
R6653:Phip UTSW 9 82,782,794 (GRCm39) nonsense probably null
R7129:Phip UTSW 9 82,759,353 (GRCm39) missense probably damaging 0.98
R7290:Phip UTSW 9 82,753,346 (GRCm39) missense possibly damaging 0.94
R7598:Phip UTSW 9 82,787,711 (GRCm39) missense possibly damaging 0.94
R7632:Phip UTSW 9 82,785,243 (GRCm39) missense probably benign
R7752:Phip UTSW 9 82,772,203 (GRCm39) missense probably benign
R7827:Phip UTSW 9 82,790,886 (GRCm39) missense probably benign
R7901:Phip UTSW 9 82,772,203 (GRCm39) missense probably benign
R7960:Phip UTSW 9 82,775,401 (GRCm39) missense probably benign 0.00
R8006:Phip UTSW 9 82,772,179 (GRCm39) missense possibly damaging 0.93
R8066:Phip UTSW 9 82,757,351 (GRCm39) missense probably benign 0.05
R8080:Phip UTSW 9 82,769,662 (GRCm39) missense probably damaging 1.00
R8135:Phip UTSW 9 82,812,427 (GRCm39) missense probably benign 0.09
R8347:Phip UTSW 9 82,790,816 (GRCm39) missense probably benign 0.02
R8459:Phip UTSW 9 82,758,106 (GRCm39) missense probably benign
R8705:Phip UTSW 9 82,775,612 (GRCm39) missense probably damaging 0.99
R8706:Phip UTSW 9 82,787,765 (GRCm39) missense possibly damaging 0.89
R8743:Phip UTSW 9 82,809,140 (GRCm39) missense probably benign 0.18
R8801:Phip UTSW 9 82,758,305 (GRCm39) missense probably benign 0.22
R8930:Phip UTSW 9 82,789,041 (GRCm39) missense possibly damaging 0.67
R8932:Phip UTSW 9 82,789,041 (GRCm39) missense possibly damaging 0.67
R8969:Phip UTSW 9 82,809,017 (GRCm39) intron probably benign
R9064:Phip UTSW 9 82,753,540 (GRCm39) missense probably benign 0.20
R9332:Phip UTSW 9 82,757,412 (GRCm39) missense probably damaging 0.98
R9335:Phip UTSW 9 82,814,979 (GRCm39) missense probably benign 0.03
R9520:Phip UTSW 9 82,753,437 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- GCAGGACATAGGACATAATGTTAC -3'
(R):5'- AGAAACCTATTTTGTTCTGGAGTCC -3'

Sequencing Primer
(F):5'- TTTAAGCAGAAACTTGTTAGAGCATG -3'
(R):5'- TGTTCTGGAGTCCATTTATATTCCC -3'
Posted On 2014-06-30