Incidental Mutation 'R8969:Phip'
ID 711124
Institutional Source Beutler Lab
Gene Symbol Phip
Ensembl Gene ENSMUSG00000032253
Gene Name pleckstrin homology domain interacting protein
Synonyms Ndrp, 4632404O06Rik, Wdr11, 2810004D21Rik
MMRRC Submission 068803-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8969 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 82748212-82857569 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 82809017 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000034787] [ENSMUST00000189985]
AlphaFold no structure available at present
Predicted Effect probably benign
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 probably benign
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 probably benign
Transcript: ENSMUST00000190822
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (77/77)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,227,944 (GRCm39) N662K probably benign Het
Acp7 G A 7: 28,307,382 (GRCm39) R492W probably damaging Het
Adam33 C T 2: 130,894,994 (GRCm39) G688D probably damaging Het
Ak3 T G 19: 29,025,094 (GRCm39) M46L probably benign Het
Aldh1l1 A G 6: 90,547,790 (GRCm39) T417A probably benign Het
Ambp C T 4: 63,072,328 (GRCm39) probably benign Het
Arhgef11 T C 3: 87,632,949 (GRCm39) S687P probably damaging Het
Ash1l T C 3: 88,873,598 (GRCm39) M127T possibly damaging Het
Atg9b C T 5: 24,592,832 (GRCm39) A524T probably benign Het
Btbd10 A T 7: 112,925,162 (GRCm39) S277T probably damaging Het
Ccdc167 T C 17: 29,924,553 (GRCm39) D16G probably damaging Het
Cdh12 A G 15: 21,492,739 (GRCm39) T253A probably damaging Het
Cfap206 A T 4: 34,692,522 (GRCm39) D501E probably benign Het
Chrnb2 A G 3: 89,664,532 (GRCm39) F461L probably damaging Het
Clic1 T C 17: 35,274,386 (GRCm39) probably null Het
Cmah A G 13: 24,606,636 (GRCm39) Y89C probably damaging Het
Crkl A G 16: 17,286,918 (GRCm39) E158G probably damaging Het
Cyp3a59 A T 5: 146,049,630 (GRCm39) E486V probably benign Het
D16Ertd472e T G 16: 78,344,682 (GRCm39) Y142S probably damaging Het
Decr2 T A 17: 26,306,355 (GRCm39) M94L probably benign Het
Dspp A T 5: 104,325,640 (GRCm39) S668C unknown Het
Dync2h1 T C 9: 7,130,723 (GRCm39) R1708G probably damaging Het
Eno3 T A 11: 70,551,691 (GRCm39) I217N possibly damaging Het
Fcho2 A T 13: 98,891,604 (GRCm39) L386* probably null Het
Gm5114 C A 7: 39,058,732 (GRCm39) V296F probably damaging Het
Hc A G 2: 34,909,475 (GRCm39) probably null Het
Helz2 A G 2: 180,879,581 (GRCm39) V679A probably benign Het
Ifnar2 T C 16: 91,201,060 (GRCm39) F434L probably benign Het
Isl1 A G 13: 116,439,857 (GRCm39) S164P possibly damaging Het
Jup C T 11: 100,270,391 (GRCm39) C372Y probably damaging Het
Kat2b T A 17: 53,967,116 (GRCm39) Y621* probably null Het
Kif2b T C 11: 91,468,019 (GRCm39) H88R probably benign Het
Kit G A 5: 75,799,722 (GRCm39) V485I Het
Klhl36 T C 8: 120,596,887 (GRCm39) L196P probably damaging Het
Klk1b27 T A 7: 43,703,932 (GRCm39) I25K probably damaging Het
Kmt2c T A 5: 25,519,387 (GRCm39) Q2241L possibly damaging Het
Krt10 T A 11: 99,278,434 (GRCm39) N242Y probably damaging Het
Krt36 T A 11: 99,993,129 (GRCm39) I449F probably damaging Het
Med27 G T 2: 29,236,875 (GRCm39) V7F possibly damaging Het
Mettl25b G A 3: 87,837,282 (GRCm39) probably benign Het
Mxd1 C T 6: 86,628,466 (GRCm39) V145M probably benign Het
Mylip T A 13: 45,544,820 (GRCm39) F81L probably damaging Het
Nceh1 T A 3: 27,276,885 (GRCm39) F69L probably null Het
Ndufs3 A T 2: 90,732,773 (GRCm39) N104K probably damaging Het
Nfxl1 A C 5: 72,716,473 (GRCm39) V46G unknown Het
Or51a39 T C 7: 102,363,558 (GRCm39) T21A probably benign Het
Or51f1e T G 7: 102,747,251 (GRCm39) I101S probably damaging Het
Or5as1 T A 2: 86,980,928 (GRCm39) M26L probably benign Het
Or5m10b A G 2: 85,699,832 (GRCm39) N299D probably benign Het
Palld T A 8: 62,137,883 (GRCm39) H624L probably damaging Het
Pcbp2 T G 15: 102,399,214 (GRCm39) L343R probably damaging Het
Pclo T A 5: 14,572,208 (GRCm39) I531N unknown Het
Phldb2 A T 16: 45,592,496 (GRCm39) probably null Het
Ppp2r5e G T 12: 75,500,492 (GRCm39) T467N possibly damaging Het
Ptcd3 T C 6: 71,880,431 (GRCm39) I97M probably benign Het
Ptpn21 T A 12: 98,655,284 (GRCm39) Q561L probably benign Het
Rnf38 A T 4: 44,149,079 (GRCm39) H121Q possibly damaging Het
Sec1 A G 7: 45,328,897 (GRCm39) F50S possibly damaging Het
Sec62 A G 3: 30,873,024 (GRCm39) E369G unknown Het
Serpinb2 A T 1: 107,452,390 (GRCm39) I323F probably damaging Het
Sh3rf1 A C 8: 61,837,860 (GRCm39) T802P probably benign Het
Srd5a3 A G 5: 76,301,493 (GRCm39) R241G probably benign Het
Suox T C 10: 128,507,542 (GRCm39) N162S probably benign Het
Tenm2 C T 11: 35,942,688 (GRCm39) C1327Y probably damaging Het
Terf2ip A G 8: 112,738,370 (GRCm39) D86G probably damaging Het
Tmc1 G A 19: 20,793,593 (GRCm39) R523C probably damaging Het
Tmprss11e T A 5: 86,861,758 (GRCm39) I263L possibly damaging Het
Tmtc4 T C 14: 123,179,224 (GRCm39) probably benign Het
Tnfrsf22 T A 7: 143,192,173 (GRCm39) N171I unknown Het
Trpm3 A G 19: 22,903,308 (GRCm39) S1035G probably damaging Het
U2af1 C T 17: 31,867,854 (GRCm39) V72M possibly damaging Het
Uimc1 A G 13: 55,233,447 (GRCm39) C70R possibly damaging Het
Vmn2r83 A G 10: 79,313,853 (GRCm39) T154A probably benign Het
Xrn2 T C 2: 146,871,304 (GRCm39) I302T probably damaging Het
Zbtb6 A G 2: 37,318,677 (GRCm39) L417P probably damaging Het
Zdhhc14 C T 17: 5,775,555 (GRCm39) S269L probably benign Het
Zfp735 T A 11: 73,602,699 (GRCm39) F548I possibly damaging Het
Zfp809 T C 9: 22,137,130 (GRCm39) probably null Het
Zranb3 A T 1: 127,888,588 (GRCm39) D832E 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
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
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'- GCATTTCCAAGTCAATCCTATTTGC -3'
(R):5'- AGCCAAAATCTTCAAGGCATAG -3'

Sequencing Primer
(F):5'- CCAAAGAAGCAAGGGGTTT -3'
(R):5'- AGTAACTATGGTAGCTTGGGATCGAC -3'
Posted On 2022-05-05