Incidental Mutation 'R7827:Phip'
ID 602260
Institutional Source Beutler Lab
Gene Symbol Phip
Ensembl Gene ENSMUSG00000032253
Gene Name pleckstrin homology domain interacting protein
Synonyms Ndrp, 4632404O06Rik, Wdr11, 2810004D21Rik
MMRRC Submission 045881-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7827 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 82748212-82857569 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 82790886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 687 (I687V)
Ref Sequence ENSEMBL: ENSMUSP00000034787 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034787]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000034787
AA Change: I687V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034787
Gene: ENSMUSG00000032253
AA Change: I687V

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 probably benign
Transcript: ENSMUST00000190822
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 A G 3: 59,651,112 (GRCm39) N78S probably damaging Het
Abca12 G A 1: 71,453,837 (GRCm39) probably benign Het
Abcb1b T C 5: 8,887,747 (GRCm39) S878P probably damaging Het
Adamts20 T C 15: 94,223,814 (GRCm39) R1305G probably damaging Het
Adcy2 A T 13: 68,837,400 (GRCm39) C650S probably damaging Het
Ahnak A T 19: 8,982,708 (GRCm39) K1331* probably null Het
Alpk1 A T 3: 127,473,700 (GRCm39) S768T probably benign Het
Ap4b1 T G 3: 103,722,398 (GRCm39) L124R probably damaging Het
Arrdc2 A T 8: 71,292,038 (GRCm39) F3Y probably damaging Het
Atp9a A G 2: 168,547,114 (GRCm39) V155A probably benign Het
Bptf A G 11: 106,938,013 (GRCm39) S87P probably benign Het
Carmil1 A T 13: 24,220,421 (GRCm39) M697K probably benign Het
Ccdc42 G A 11: 68,485,022 (GRCm39) V32M probably benign Het
Cert1 A G 13: 96,753,563 (GRCm39) H391R probably damaging Het
Ces1d A G 8: 93,924,294 (GRCm39) probably null Het
Dcpp2 T G 17: 24,119,566 (GRCm39) Y127D probably damaging Het
Def8 C A 8: 124,174,060 (GRCm39) T7K probably benign Het
Dnah8 CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT 17: 30,979,841 (GRCm39) probably null Het
En2 G A 5: 28,371,594 (GRCm39) G24S probably benign Het
Evi2a T C 11: 79,418,688 (GRCm39) probably benign Het
Fam117b A T 1: 59,952,837 (GRCm39) H172L possibly damaging Het
Fam169b A G 7: 67,954,338 (GRCm39) I67M probably benign Het
Fbxo40 T A 16: 36,789,861 (GRCm39) E416D probably damaging Het
Gja8 T A 3: 96,827,635 (GRCm39) N9I possibly damaging Het
Gsg1l2 T A 11: 67,676,097 (GRCm39) C154S probably benign Het
Hdhd3 C A 4: 62,418,232 (GRCm39) probably benign Het
Hunk C T 16: 90,278,214 (GRCm39) P341L possibly damaging Het
Ighv8-5 T C 12: 115,031,258 (GRCm39) T94A possibly damaging Het
Ints3 T C 3: 90,331,319 (GRCm39) N75D probably benign Het
Krt39 T C 11: 99,409,901 (GRCm39) E212G probably damaging Het
Ldlrad4 A G 18: 68,387,495 (GRCm39) H269R probably damaging Het
Lrrc2 T A 9: 110,790,049 (GRCm39) V102E possibly damaging Het
Ltbp2 T A 12: 84,836,655 (GRCm39) I1292L probably benign Het
Mad2l1bp A T 17: 46,458,993 (GRCm39) V179E possibly damaging Het
Map3k1 A G 13: 111,892,663 (GRCm39) V864A probably benign Het
Mapk8ip2 T G 15: 89,342,322 (GRCm39) V511G probably damaging Het
Mknk2 A C 10: 80,503,021 (GRCm39) S434A probably benign Het
Mllt11 A G 3: 95,127,548 (GRCm39) F74S probably damaging Het
Muc16 G T 9: 18,506,519 (GRCm39) T6412K possibly damaging Het
Nek5 C A 8: 22,573,403 (GRCm39) A518S possibly damaging Het
Npy1r T C 8: 67,156,864 (GRCm39) F95L possibly damaging Het
Nup98 G A 7: 101,773,569 (GRCm39) T1586I probably benign Het
Olig3 A T 10: 19,232,518 (GRCm39) M48L probably benign Het
Or13n4 A G 7: 106,422,932 (GRCm39) M267T probably benign Het
Or14j7 T A 17: 38,234,568 (GRCm39) L37* probably null Het
Or5b120 T G 19: 13,480,587 (GRCm39) N293K probably damaging Het
Or6aa1 T A 7: 86,043,765 (GRCm39) K314* probably null Het
Pcdhb16 A G 18: 37,611,904 (GRCm39) D288G possibly damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Piezo1 G A 8: 123,209,659 (GRCm39) T2348M probably damaging Het
Plod3 A G 5: 137,018,835 (GRCm39) T291A probably benign Het
Pmpca G A 2: 26,280,144 (GRCm39) V89I possibly damaging Het
Polr1b C A 2: 128,967,464 (GRCm39) F952L probably damaging Het
Pou6f2 C A 13: 18,553,092 (GRCm39) A81S Het
Ppl T A 16: 4,905,828 (GRCm39) E1489V probably damaging Het
Ptpdc1 A G 13: 48,733,264 (GRCm39) F792S probably damaging Het
Pus1 A G 5: 110,927,582 (GRCm39) Y58H probably damaging Het
Rex2 C A 4: 147,142,547 (GRCm39) T345N possibly damaging Het
Rnf144a T C 12: 26,389,439 (GRCm39) M1V probably null Het
Siglec15 A T 18: 78,100,445 (GRCm39) C13* probably null Het
Skint10 G A 4: 112,632,003 (GRCm39) Q6* probably null Het
Slc5a1 T C 5: 33,304,057 (GRCm39) W291R probably damaging Het
Snx27 A G 3: 94,426,366 (GRCm39) F378L probably benign Het
Strip2 A T 6: 29,923,928 (GRCm39) T81S probably benign Het
Tas2r143 A G 6: 42,377,656 (GRCm39) N162S probably damaging Het
Tatdn1 T C 15: 58,776,607 (GRCm39) D256G probably benign Het
Tbc1d5 A G 17: 51,089,291 (GRCm39) S630P probably damaging Het
Tlr11 A G 14: 50,598,611 (GRCm39) D199G probably benign Het
Tmed8 C A 12: 87,246,991 (GRCm39) probably benign Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Ttll3 TAA TAAAGCAA 6: 113,376,123 (GRCm39) probably null Het
U2af2 T C 7: 5,077,661 (GRCm39) probably null Het
Ywhag C T 5: 135,940,394 (GRCm39) E67K probably damaging Het
Zfp105 A G 9: 122,759,808 (GRCm39) H493R probably damaging Het
Zfp426 A T 9: 20,381,446 (GRCm39) C514S probably damaging Het
Zfp536 T A 7: 37,269,113 (GRCm39) D101V 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
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
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'- CCTATCTCATACCATTTACACAGATCG -3'
(R):5'- TTGCAGAACATGAACTTAACACTCC -3'

Sequencing Primer
(F):5'- TCATTTTTGACAGTGATGACTAGC -3'
(R):5'- TGACCACATTTTTGTTTTCATTAAGC -3'
Posted On 2019-12-03