Mutagenetix > Incidental Mutation

Incidental Mutation 'R2447:Phip'

248901

Institutional Source

Beutler Lab

Gene Symbol

Phip

Ensembl Gene

ENSMUSG00000032253

Gene Name

pleckstrin homology domain interacting protein

Synonyms

Ndrp, 4632404O06Rik, Wdr11, 2810004D21Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2447 (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 82797452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 517 (V517A)

Ref Sequence

ENSEMBL: ENSMUSP00000034787 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000034787
AA Change: V517A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034787
Gene: ENSMUSG00000032253
AA Change: V517A

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

probably benign
Transcript: ENSMUST00000186089

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186099

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187021

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188868

Predicted Effect

probably benign
Transcript: ENSMUST00000190822

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Foxo3	T	C	10: 42,073,816 (GRCm39)	I15V	probably benign	Het
Gm12888	A	T	4: 121,175,547 (GRCm39)	D78E	possibly damaging	Het
Gm4952	T	A	19: 12,595,770 (GRCm39)	N53K	possibly damaging	Het
Hrg	A	T	16: 22,779,898 (GRCm39)		probably benign	Het
Mta3	C	T	17: 84,111,973 (GRCm39)	T567I	probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Panx1	A	G	9: 14,956,185 (GRCm39)	I50T	probably damaging	Het
Pdcd11	T	C	19: 47,102,995 (GRCm39)	F1114L	probably benign	Het
Phf6	C	G	X: 52,042,435 (GRCm39)	Q279E	probably benign	Het
Psmb5	C	T	14: 54,851,927 (GRCm39)	V86I	probably damaging	Het
R3hdm1	T	A	1: 128,114,666 (GRCm39)		probably benign	Het
Sfmbt1	A	G	14: 30,495,850 (GRCm39)	I44M	possibly damaging	Het
Tmem89	A	T	9: 108,743,868 (GRCm39)	D56V	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tshz3	T	A	7: 36,468,178 (GRCm39)	C56S	probably benign	Het
Ttn	C	A	2: 76,778,284 (GRCm39)	A1322S	probably damaging	Het
Ubr3	C	T	2: 69,833,724 (GRCm39)	H188Y	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
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'- TACTCACCCACTCCAAAGGT -3'
(R):5'- CTGGGTGGGAGGAGAAATCT -3'

Sequencing Primer
(F):5'- TCCAAAGGTAAAACATATAACCCCAG -3'
(R):5'- TGCACAAATTTTACTGTACTCTGC -3'

Posted On

2014-11-12