Incidental Mutation 'R0137:Phip'
ID 22046
Institutional Source Beutler Lab
Gene Symbol Phip
Ensembl Gene ENSMUSG00000032253
Gene Name pleckstrin homology domain interacting protein
Synonyms Ndrp, 4632404O06Rik, Wdr11, 2810004D21Rik
MMRRC Submission 038422-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0137 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 82748212-82857569 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to C at 82809244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034787] [ENSMUST00000189985]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000034787
SMART Domains Protein: ENSMUSP00000034787
Gene: ENSMUSG00000032253

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 probably benign
Transcript: ENSMUST00000186089
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187021
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188868
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189927
Predicted Effect probably null
Transcript: ENSMUST00000189985
SMART Domains Protein: ENSMUSP00000140445
Gene: ENSMUSG00000032253

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190405
Predicted Effect probably benign
Transcript: ENSMUST00000190822
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 91.8%
Validation Efficiency 95% (94/99)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik A T 8: 120,878,115 (GRCm39) H190L possibly damaging Het
Adap1 A G 5: 139,278,976 (GRCm39) probably benign Het
Adgra3 C T 5: 50,121,182 (GRCm39) probably benign Het
Adgre5 A T 8: 84,451,527 (GRCm39) V527E probably damaging Het
Anapc5 A T 5: 122,938,695 (GRCm39) Y360N probably damaging Het
Angptl6 C A 9: 20,789,683 (GRCm39) A70S probably benign Het
Ankdd1a C A 9: 65,417,610 (GRCm39) K137N probably null Het
Ccdc170 T C 10: 4,496,950 (GRCm39) probably benign Het
Ccdc51 A G 9: 108,920,698 (GRCm39) E195G probably damaging Het
Cdc37 A T 9: 21,053,426 (GRCm39) C204S possibly damaging Het
Cfap36 T C 11: 29,172,431 (GRCm39) probably benign Het
Col6a2 C A 10: 76,432,259 (GRCm39) G965C probably damaging Het
Csn1s2a G A 5: 87,926,826 (GRCm39) S53N possibly damaging Het
Dab2ip T C 2: 35,582,388 (GRCm39) probably null Het
Dhx58 A G 11: 100,587,823 (GRCm39) V578A probably damaging Het
Diaph1 G T 18: 38,024,902 (GRCm39) Q520K unknown Het
Eefsec C A 6: 88,274,631 (GRCm39) K444N probably benign Het
Eftud2 A T 11: 102,759,443 (GRCm39) H153Q possibly damaging Het
Eif5b T G 1: 38,058,324 (GRCm39) S209A probably benign Het
Exosc2 T A 2: 31,562,497 (GRCm39) Y46N probably damaging Het
F2 C T 2: 91,456,075 (GRCm39) G562D probably damaging Het
Fgf23 G A 6: 127,057,128 (GRCm39) G148D probably damaging Het
Fmnl3 G C 15: 99,220,619 (GRCm39) probably benign Het
Fstl5 G A 3: 76,614,786 (GRCm39) G179R probably damaging Het
Garre1 A T 7: 33,938,644 (GRCm39) W246R probably damaging Het
Gart T A 16: 91,422,282 (GRCm39) Q745L probably benign Het
Gmeb1 T A 4: 131,959,419 (GRCm39) M212L probably benign Het
Gpaa1 T C 15: 76,218,981 (GRCm39) Y548H probably damaging Het
Gpatch1 T C 7: 34,986,667 (GRCm39) E763G probably damaging Het
Grm8 T A 6: 27,762,389 (GRCm39) I279F probably damaging Het
Hcls1 T A 16: 36,771,536 (GRCm39) H147Q probably damaging Het
Hpcal1 A C 12: 17,836,389 (GRCm39) D73A probably damaging Het
Il22ra1 T C 4: 135,478,317 (GRCm39) S463P probably benign Het
Itgbl1 G A 14: 124,078,098 (GRCm39) probably null Het
Izumo3 G T 4: 92,035,437 (GRCm39) probably benign Het
Kcna5 A T 6: 126,510,346 (GRCm39) L594Q probably damaging Het
Kif13a A T 13: 46,918,079 (GRCm39) D409E probably benign Het
Kif9 A T 9: 110,314,106 (GRCm39) I39F probably damaging Het
Klri2 C T 6: 129,709,171 (GRCm39) R227H possibly damaging Het
Lamc3 G A 2: 31,798,628 (GRCm39) G445S probably damaging Het
Lctl A G 9: 64,024,980 (GRCm39) probably benign Het
Lrp4 T C 2: 91,325,327 (GRCm39) L1384P probably damaging Het
Mcm9 G A 10: 53,439,526 (GRCm39) S549L possibly damaging Het
Ms4a15 G A 19: 10,956,697 (GRCm39) probably benign Het
Mtor T C 4: 148,555,081 (GRCm39) V901A possibly damaging Het
Nckap1l A T 15: 103,390,391 (GRCm39) I721F probably benign Het
Nemp2 T C 1: 52,684,588 (GRCm39) V298A probably benign Het
Npc1l1 T A 11: 6,178,148 (GRCm39) K421* probably null Het
Npr1 C T 3: 90,363,244 (GRCm39) V879M probably damaging Het
Odad4 A G 11: 100,454,394 (GRCm39) E393G probably damaging Het
Or2ad1 A G 13: 21,326,336 (GRCm39) V297A possibly damaging Het
Or51q1c A G 7: 103,652,709 (GRCm39) T82A probably benign Het
Osgin1 A T 8: 120,169,219 (GRCm39) I39F possibly damaging Het
Pkdrej G T 15: 85,705,768 (GRCm39) P56Q possibly damaging Het
Plcxd2 A G 16: 45,800,889 (GRCm39) Y112H probably damaging Het
Plekha1 C T 7: 130,499,176 (GRCm39) T155M probably damaging Het
Prkdc T C 16: 15,558,196 (GRCm39) probably null Het
Prss1 A G 6: 41,439,495 (GRCm39) H76R probably damaging Het
Psg23 T C 7: 18,348,558 (GRCm39) D83G probably benign Het
Ptprd T A 4: 76,055,140 (GRCm39) Q196L probably benign Het
Ranbp3l A T 15: 9,063,067 (GRCm39) H292L probably damaging Het
Ranbp6 T C 19: 29,787,097 (GRCm39) E1085G probably benign Het
Rccd1 A G 7: 79,970,326 (GRCm39) V97A possibly damaging Het
Rchy1 T C 5: 92,105,458 (GRCm39) S48G probably benign Het
Rnmt G A 18: 68,446,771 (GRCm39) M265I probably benign Het
Robo3 A T 9: 37,336,640 (GRCm39) M376K probably benign Het
Rrp12 T C 19: 41,862,289 (GRCm39) D898G probably benign Het
Scg3 A T 9: 75,570,462 (GRCm39) probably benign Het
Sec31b A T 19: 44,522,821 (GRCm39) M57K probably damaging Het
Slc17a6 A C 7: 51,315,892 (GRCm39) I387L probably benign Het
Speer4a1 T A 5: 26,240,982 (GRCm39) Q170L possibly damaging Het
Srsf9 A G 5: 115,470,260 (GRCm39) D146G possibly damaging Het
Ss18 A G 18: 14,788,200 (GRCm39) M90T probably damaging Het
Syna A T 5: 134,588,314 (GRCm39) F212I possibly damaging Het
Tex54 A G 19: 8,718,221 (GRCm39) probably benign Het
Thsd1 A G 8: 22,733,055 (GRCm39) H34R probably damaging Het
Tmem143 T C 7: 45,547,086 (GRCm39) I84T probably benign Het
Trim50 T C 5: 135,395,487 (GRCm39) V281A probably damaging Het
Trp53i11 C A 2: 93,029,696 (GRCm39) probably benign Het
Ttll4 C T 1: 74,718,851 (GRCm39) T234I possibly damaging Het
Ttyh1 A T 7: 4,127,719 (GRCm39) I136F possibly damaging Het
Ube2f T C 1: 91,189,976 (GRCm39) probably benign Het
Vcl T A 14: 21,037,083 (GRCm39) L227* probably null Het
Vmn1r222 A C 13: 23,416,974 (GRCm39) C80G probably damaging Het
Vps13b G T 15: 35,926,365 (GRCm39) A3889S probably benign Het
Vps8 T C 16: 21,323,136 (GRCm39) probably benign Het
Zbtb44 A G 9: 30,978,006 (GRCm39) Y422C probably damaging Het
Zfp180 A G 7: 23,805,158 (GRCm39) S526G possibly damaging Het
Zfp518a A C 19: 40,904,310 (GRCm39) E1413A probably damaging Het
Zfp629 T A 7: 127,210,858 (GRCm39) Y317F probably damaging Het
Zfp804b T C 5: 6,820,534 (GRCm39) E843G probably benign 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
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
R1865:Phip UTSW 9 82,827,845 (GRCm39) missense probably damaging 1.00
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'- CTGTCAGCCTCAGCAGTACTCAAAG -3'
(R):5'- CCCGCAAAAGGATGAAGTCATTCCC -3'

Sequencing Primer
(F):5'- AGTTTGGGTTTTGTTTCTCACC -3'
(R):5'- GACATGAGCTTCTACTGAGCCATAG -3'
Posted On 2013-04-12