Incidental Mutation 'R2070:Phip'
ID 227062
Institutional Source Beutler Lab
Gene Symbol Phip
Ensembl Gene ENSMUSG00000032253
Gene Name pleckstrin homology domain interacting protein
Synonyms Ndrp, 4632404O06Rik, Wdr11, 2810004D21Rik
MMRRC Submission 040075-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2070 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 82748212-82857569 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 82757352 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 1607 (I1607L)
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: I1607L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034787
Gene: ENSMUSG00000032253
AA Change: I1607L

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: ENSMUST00000190774
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik A G 11: 58,767,595 (GRCm39) K31E probably damaging Het
Abcc10 G C 17: 46,614,491 (GRCm39) N1477K probably benign Het
Ablim2 G A 5: 35,955,857 (GRCm39) C24Y probably damaging Het
Ankle1 T C 8: 71,861,988 (GRCm39) F497S probably damaging Het
Armh3 G T 19: 45,879,724 (GRCm39) P543Q probably damaging Het
Ash1l C G 3: 88,873,510 (GRCm39) P98A probably damaging Het
Atad5 A T 11: 79,988,878 (GRCm39) probably null Het
B3gnt4 A T 5: 123,649,433 (GRCm39) H266L probably benign Het
Bmi1 A G 2: 18,688,851 (GRCm39) I207V probably benign Het
Bnip3l A G 14: 67,226,671 (GRCm39) M174T probably damaging Het
Bora T C 14: 99,299,714 (GRCm39) S229P probably damaging Het
Ccdc121 T C 5: 31,644,727 (GRCm39) V160A possibly damaging Het
Ccdc27 T A 4: 154,126,270 (GRCm39) N73I unknown Het
Cdc42bpg T A 19: 6,370,518 (GRCm39) C1204S probably damaging Het
Cdsn A T 17: 35,865,591 (GRCm39) D40V probably damaging Het
Cilp T A 9: 65,186,377 (GRCm39) V824D probably damaging Het
Cmtr1 A G 17: 29,913,757 (GRCm39) probably null Het
Cntnap1 A G 11: 101,073,805 (GRCm39) Y652C probably damaging Het
Col12a1 T C 9: 79,554,978 (GRCm39) I2033M probably benign Het
Cwh43 T C 5: 73,578,860 (GRCm39) L289P probably damaging Het
Ddhd1 T C 14: 45,848,081 (GRCm39) D529G probably damaging Het
Defb28 T A 2: 152,362,064 (GRCm39) S75T probably benign Het
Dennd2a A T 6: 39,442,053 (GRCm39) V939D probably damaging Het
Dlg5 T C 14: 24,186,703 (GRCm39) R1866G probably damaging Het
Dsc1 C T 18: 20,221,353 (GRCm39) probably null Het
Ecscr T G 18: 35,848,490 (GRCm39) N184T probably damaging Het
Eif4ebp1 G T 8: 27,763,372 (GRCm39) R55L probably damaging Het
Eml1 G T 12: 108,479,258 (GRCm39) V344L probably damaging Het
Exoc2 G T 13: 30,999,353 (GRCm39) N901K probably benign Het
Fam161b T A 12: 84,403,202 (GRCm39) I143F probably benign Het
Fam180a A G 6: 35,302,846 (GRCm39) S2P probably benign Het
Fat3 T A 9: 15,910,666 (GRCm39) I1779F probably benign Het
Fat4 A G 3: 39,064,804 (GRCm39) K4920R probably benign Het
Fsip2 T A 2: 82,806,699 (GRCm39) V1006E probably damaging Het
Glcci1 A G 6: 8,558,566 (GRCm39) S30G probably damaging Het
Gm5414 A T 15: 101,536,495 (GRCm39) S43R possibly damaging Het
Hao1 T C 2: 134,372,535 (GRCm39) T158A probably damaging Het
Hic1 T C 11: 75,059,885 (GRCm39) H154R possibly damaging Het
Hmgxb3 T C 18: 61,304,431 (GRCm39) Y53C probably damaging Het
Ipmk A T 10: 71,208,579 (GRCm39) K122* probably null Het
Jakmip2 T C 18: 43,696,395 (GRCm39) E518G probably benign Het
Kmt2e A G 5: 23,706,993 (GRCm39) T1519A probably benign Het
Lfng T C 5: 140,598,350 (GRCm39) I224T possibly damaging Het
Magel2 G A 7: 62,028,844 (GRCm39) V583I unknown Het
Map4k5 C T 12: 69,863,111 (GRCm39) V629I probably damaging Het
Med12l A G 3: 59,152,326 (GRCm39) D1037G probably damaging Het
Morc1 C T 16: 48,412,974 (GRCm39) T705I probably benign Het
Mptx2 A T 1: 173,102,145 (GRCm39) Y181* probably null Het
Mrpl24 T C 3: 87,830,374 (GRCm39) probably null Het
Myo5a A G 9: 75,089,266 (GRCm39) E1132G probably benign Het
Nedd4l T G 18: 65,345,891 (GRCm39) F814L probably damaging Het
Nmral1 T A 16: 4,534,211 (GRCm39) I77F probably damaging Het
Oit3 T G 10: 59,266,835 (GRCm39) I224L probably benign Het
Oxsm A G 14: 16,241,983 (GRCm38) L262P probably benign Het
Pacs2 C T 12: 113,024,731 (GRCm39) T407I probably damaging Het
Pard6g T C 18: 80,160,940 (GRCm39) I351T probably benign Het
Pdcl2 A T 5: 76,472,838 (GRCm39) probably null Het
Pdzph1 T C 17: 59,281,092 (GRCm39) R397G probably benign Het
Plekhd1 C A 12: 80,739,681 (GRCm39) S10* probably null Het
Pramel24 T G 4: 143,453,472 (GRCm39) Y193* probably null Het
Prdm1 C T 10: 44,317,408 (GRCm39) D505N possibly damaging Het
Psmd13 T C 7: 140,477,561 (GRCm39) V320A probably damaging Het
Rbak A G 5: 143,162,339 (GRCm39) L8P probably damaging Het
Rere C A 4: 150,699,047 (GRCm39) probably benign Het
Rint1 T C 5: 24,015,927 (GRCm39) S456P possibly damaging Het
Scn3a T C 2: 65,351,210 (GRCm39) Q446R possibly damaging Het
Slitrk5 A G 14: 111,917,621 (GRCm39) Y415C probably damaging Het
Snrnp200 A G 2: 127,054,323 (GRCm39) E210G possibly damaging Het
Snrnp200 A G 2: 127,079,803 (GRCm39) T1891A probably benign Het
Sohlh2 A G 3: 55,115,043 (GRCm39) I343V probably benign Het
Spin1 T C 13: 51,298,573 (GRCm39) probably null Het
St14 T A 9: 31,002,669 (GRCm39) I745F probably damaging Het
Sv2a G A 3: 96,101,191 (GRCm39) A730T possibly damaging Het
Tars2 C A 3: 95,654,950 (GRCm39) G113C probably damaging Het
Tlcd3b T C 7: 126,419,012 (GRCm39) L4P probably benign Het
Trp53 A G 11: 69,480,458 (GRCm39) D278G probably damaging Het
Ubxn7 T A 16: 32,191,287 (GRCm39) C160S possibly damaging Het
Uty T C Y: 1,169,193 (GRCm39) E414G probably benign Het
Wrap73 T A 4: 154,233,200 (GRCm39) S125T possibly damaging Het
Wwc2 T C 8: 48,321,356 (GRCm39) D586G unknown Het
Zfp106 T C 2: 120,354,010 (GRCm39) H1490R probably benign Het
Zswim5 T C 4: 116,837,109 (GRCm39) V731A probably benign Het
Zyg11b G C 4: 108,108,016 (GRCm39) N463K possibly 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
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'- TTCTGGCCAGCGCATTCAAG -3'
(R):5'- GACATTCCAAAGCCTTGAGC -3'

Sequencing Primer
(F):5'- GCCAGCGCATTCAAGCATTAC -3'
(R):5'- GCCTTGAGCACACTTTCCAG -3'
Posted On 2014-09-17