Mutagenetix > Incidental Mutation

Incidental Mutation 'R5291:Phip'

405156

Institutional Source

Beutler Lab

Gene Symbol

Phip

Ensembl Gene

ENSMUSG00000032253

Gene Name

pleckstrin homology domain interacting protein

Synonyms

Ndrp, 4632404O06Rik, Wdr11, 2810004D21Rik

MMRRC Submission

042874-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5291 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82748212-82857569 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82827936 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 97 (Y97H)

Ref Sequence

ENSEMBL: ENSMUSP00000140445 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034787] [ENSMUST00000189985]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034787
AA Change: Y159H

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034787
Gene: ENSMUSG00000032253
AA Change: Y159H

Domain	Start	End	E-Value	Type
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: Y97H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000140445
Gene: ENSMUSG00000032253
AA Change: Y97H

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 99.3%
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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,823,394 (GRCm39)	S328G	probably damaging	Het
Acot5	T	G	12: 84,120,293 (GRCm39)	L216R	probably benign	Het
Ankrd6	A	G	4: 32,823,446 (GRCm39)	L192P	probably damaging	Het
Atp6v1e1	C	A	6: 120,795,294 (GRCm39)		probably null	Het
Bbs9	T	C	9: 22,540,293 (GRCm39)	Y358H	probably damaging	Het
Bend7	G	A	2: 4,768,052 (GRCm39)	R336Q	probably damaging	Het
Camk2a	A	G	18: 61,090,236 (GRCm39)	K192R	probably damaging	Het
Ceacam1	T	A	7: 25,171,256 (GRCm39)	R223W	probably damaging	Het
Cntn6	T	A	6: 104,703,096 (GRCm39)	F173I	probably damaging	Het
Cntrl	A	C	2: 35,024,072 (GRCm39)	I33L	probably damaging	Het
Crybg2	T	C	4: 133,800,738 (GRCm39)	S633P	probably benign	Het
Cyp2j13	T	C	4: 95,956,566 (GRCm39)	H181R	probably damaging	Het
Dlgap1	A	G	17: 71,025,205 (GRCm39)	S542G	probably benign	Het
Dnm2	T	G	9: 21,390,203 (GRCm39)	L402R	probably damaging	Het
Fndc3b	C	A	3: 27,697,144 (GRCm39)	V23L	probably benign	Het
Gata4	A	C	14: 63,478,048 (GRCm39)	F184V	probably damaging	Het
Gcnt2	A	G	13: 41,072,268 (GRCm39)	R304G	probably damaging	Het
Gm10563	TTTC	TTTCCTTC	4: 155,698,969 (GRCm39)		probably benign	Het
Gm26558	G	A	2: 70,491,873 (GRCm39)		probably benign	Het
Grip1	G	A	10: 119,922,874 (GRCm39)	V1107I	probably benign	Het
Herpud2	C	T	9: 25,036,256 (GRCm39)	G135S	probably benign	Het
Lrp1	A	G	10: 127,429,747 (GRCm39)	I441T	probably damaging	Het
Lrp1b	T	C	2: 40,793,015 (GRCm39)	D2553G	probably damaging	Het
Mkln1	T	A	6: 31,467,416 (GRCm39)	N43K	possibly damaging	Het
Or4c12	A	T	2: 89,773,780 (GRCm39)	Y226*	probably null	Het
Or5k17	T	C	16: 58,746,764 (GRCm39)	T57A	possibly damaging	Het
Paxbp1	C	T	16: 90,841,240 (GRCm39)	M1I	probably null	Het
Plec	T	A	15: 76,058,211 (GRCm39)	I3774F	probably damaging	Het
Pramel11	G	T	4: 143,622,237 (GRCm39)	P373T	probably damaging	Het
Prrc2c	C	A	1: 162,533,151 (GRCm39)		probably benign	Het
Prss12	T	C	3: 123,299,112 (GRCm39)	L628P	probably damaging	Het
Ptpre	G	A	7: 135,280,030 (GRCm39)	V578I	probably benign	Het
Qsox2	A	T	2: 26,107,710 (GRCm39)	L261H	probably damaging	Het
Rapgef2	A	T	3: 78,977,366 (GRCm39)	V1327E	possibly damaging	Het
Rnf216	A	G	5: 143,075,967 (GRCm39)	S306P	probably benign	Het
Rtel1	A	G	2: 180,993,888 (GRCm39)	Q640R	possibly damaging	Het
Ryr1	T	A	7: 28,815,023 (GRCm39)	D175V	probably benign	Het
Scarf1	T	C	11: 75,414,900 (GRCm39)	S525P	probably damaging	Het
Senp7	T	A	16: 56,006,542 (GRCm39)	Y982*	probably null	Het
Slc35b2	T	C	17: 45,877,424 (GRCm39)	Y184H	probably damaging	Het
Sned1	A	G	1: 93,223,446 (GRCm39)	K1375E	possibly damaging	Het
Spats2	G	T	15: 99,076,422 (GRCm39)	A167S	probably benign	Het
Spen	C	A	4: 141,215,390 (GRCm39)	A481S	unknown	Het
Spred3	T	A	7: 28,867,255 (GRCm39)	H47L	probably damaging	Het
Srsf4	T	A	4: 131,613,617 (GRCm39)		probably benign	Het
Tdrd3	A	T	14: 87,743,234 (GRCm39)	H394L	probably benign	Het
Terf1	A	G	1: 15,889,310 (GRCm39)		probably null	Het
Txlnb	A	T	10: 17,675,144 (GRCm39)	D99V	possibly damaging	Het
Ugt1a7c	A	T	1: 88,023,231 (GRCm39)	N130I	possibly damaging	Het
Vmn2r50	T	A	7: 9,781,752 (GRCm39)	D331V	probably damaging	Het
Vps13d	A	G	4: 144,789,139 (GRCm39)	I744T	probably damaging	Het
Ythdc1	A	G	5: 86,983,547 (GRCm39)	D664G	probably damaging	Het

Other mutations in Phip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- GCAGGACATAGGACATAATGTTACTG -3'
(R):5'- GACTTTGGACATACTATTTAGCTGC -3'

Sequencing Primer
(F):5'- CTTCAAGTTCTCATACAGACACTG -3'
(R):5'- CCTATTTTGTTCTGGAGTCCA -3'

Posted On

2016-07-22