Mutagenetix > Incidental Mutation

Incidental Mutation 'R7598:Phip'

587844

Institutional Source

Beutler Lab

Gene Symbol

Phip

Ensembl Gene

ENSMUSG00000032253

Gene Name

pleckstrin homology domain interacting protein

Synonyms

Ndrp, 4632404O06Rik, Wdr11, 2810004D21Rik

MMRRC Submission

045641-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7598 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82748212-82857569 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 82787711 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 817 (S817R)

Ref Sequence

ENSEMBL: ENSMUSP00000034787 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034787
AA Change: S817R

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034787
Gene: ENSMUSG00000032253
AA Change: S817R

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

Meta Mutation Damage Score

0.0605

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (53/53)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss1	T	C	2: 150,480,370 (GRCm39)	S234G	probably benign	Het
Agtr1b	A	T	3: 20,370,077 (GRCm39)	N176K	possibly damaging	Het
AI661453	T	C	17: 47,777,045 (GRCm39)	V257A	unknown	Het
Alpk2	T	A	18: 65,437,637 (GRCm39)	K1252M	probably damaging	Het
Angpt4	A	G	2: 151,767,445 (GRCm39)	T159A	possibly damaging	Het
Ap1g1	A	G	8: 110,576,308 (GRCm39)	N447S	probably benign	Het
Apoc4	A	G	7: 19,415,265 (GRCm39)	V14A	probably benign	Het
Arfgef2	A	C	2: 166,698,444 (GRCm39)	Q638P	probably benign	Het
Arhgap20	C	A	9: 51,761,090 (GRCm39)	F980L	possibly damaging	Het
Arhgap27	G	A	11: 103,224,879 (GRCm39)	R459*	probably null	Het
Arhgef15	A	T	11: 68,837,236 (GRCm39)	L785Q	probably damaging	Het
B3gnt7	T	C	1: 86,233,500 (GRCm39)	F249L	probably benign	Het
Carmil3	A	G	14: 55,732,278 (GRCm39)	E233G	possibly damaging	Het
Ccdc122	C	A	14: 77,349,006 (GRCm39)	Q279K	probably benign	Het
Cilp2	A	G	8: 70,338,682 (GRCm39)	C134R	probably benign	Het
Clec4b1	G	A	6: 123,048,427 (GRCm39)	W187*	probably null	Het
Ddx11	G	A	17: 66,437,541 (GRCm39)		probably null	Het
Dhrs7c	A	T	11: 67,702,279 (GRCm39)		probably null	Het
Eif4g3	T	A	4: 137,921,435 (GRCm39)	H1387Q	probably benign	Het
Gsdmc4	T	C	15: 63,772,235 (GRCm39)	N148S	probably damaging	Het
Hs6st3	T	A	14: 120,106,750 (GRCm39)	V386E	probably damaging	Het
Itih3	C	T	14: 30,639,334 (GRCm39)	R413Q	possibly damaging	Het
Kcnj4	T	C	15: 79,369,965 (GRCm39)	N5S	probably benign	Het
Klhl18	A	T	9: 110,275,878 (GRCm39)	L155*	probably null	Het
Lima1	G	A	15: 99,717,577 (GRCm39)	P143L	probably benign	Het
Lzts2	G	T	19: 45,012,272 (GRCm39)	G234*	probably null	Het
Map4k5	A	T	12: 69,871,412 (GRCm39)	F503L	possibly damaging	Het
Men1	A	T	19: 6,389,735 (GRCm39)	I463L	probably benign	Het
Muc5b	A	G	7: 141,412,999 (GRCm39)	T1982A	unknown	Het
Myo18a	A	T	11: 77,738,172 (GRCm39)	T1705S	probably damaging	Het
Nipbl	T	C	15: 8,372,977 (GRCm39)	S1090G	probably benign	Het
Or2b7	T	C	13: 21,739,358 (GRCm39)	Y278C	probably damaging	Het
Or8k28	C	A	2: 86,286,234 (GRCm39)	C127F	probably damaging	Het
Pcdhb7	T	C	18: 37,475,833 (GRCm39)	F323S	probably damaging	Het
Pde11a	T	A	2: 75,966,767 (GRCm39)	T561S	probably damaging	Het
Phxr2	T	A	10: 98,961,941 (GRCm39)	M40L	unknown	Het
Pip4k2a	T	A	2: 18,877,098 (GRCm39)	L212F	possibly damaging	Het
Proc	T	A	18: 32,268,929 (GRCm39)	I19L	probably benign	Het
Rbm4	T	C	19: 4,842,539 (GRCm39)	E100G	possibly damaging	Het
Rhobtb3	T	C	13: 76,059,021 (GRCm39)	Y259C	probably benign	Het
Rtkn	A	G	6: 83,124,884 (GRCm39)	D168G	probably null	Het
Sdk1	T	G	5: 141,595,753 (GRCm39)	Y136*	probably null	Het
Slk	G	A	19: 47,624,901 (GRCm39)	E1041K	probably damaging	Het
Smok2b	A	T	17: 13,454,973 (GRCm39)	R378*	probably null	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Spag16	T	C	1: 69,909,467 (GRCm39)	F188S	probably damaging	Het
Tlnrd1	A	G	7: 83,531,838 (GRCm39)	C198R	probably damaging	Het
Tor1a	A	C	2: 30,857,796 (GRCm39)	I24S	probably benign	Het
Unc13b	C	A	4: 43,263,569 (GRCm39)	T1598K	probably benign	Het
Uncx	G	A	5: 139,529,809 (GRCm39)	V21M	probably benign	Het
Usp5	A	T	6: 124,803,342 (GRCm39)	F53I	possibly damaging	Het
Wbp2nl	A	G	15: 82,192,762 (GRCm39)	M149V	probably benign	Het
Zfp654	T	A	16: 64,606,297 (GRCm39)	E94V	possibly damaging	Het
Zfp689	A	G	7: 127,047,840 (GRCm39)	L64P	probably benign	Het
Zfyve28	A	C	5: 34,393,461 (GRCm39)	N68K	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
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
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'- CCTCAGAACTCTTACAGGATTTTC -3'
(R):5'- AGTGTCAGAGCTACAAGTTATTAGG -3'

Sequencing Primer
(F):5'- CTTAACATACTCTATTCACAAGG -3'
(R):5'- CAAGACTGGCCTTGAGCTTAG -3'

Posted On

2019-10-24