Mutagenetix > Incidental Mutation

Incidental Mutation 'R5181:Phip'

397554

Institutional Source

Beutler Lab

Gene Symbol

Phip

Ensembl Gene

ENSMUSG00000032253

Gene Name

pleckstrin homology domain interacting protein

Synonyms

Ndrp, 4632404O06Rik, Wdr11, 2810004D21Rik

MMRRC Submission

042761-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5181 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82748212-82857569 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to G at 82753243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000034787
Gene: ENSMUSG00000032253

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: ENSMUST00000190774

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (54/54)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	A	5: 8,764,937 (GRCm39)	D642E	probably benign	Het
Anxa2	T	C	9: 69,383,347 (GRCm39)	V54A	probably benign	Het
Ccnb1	C	G	13: 100,918,283 (GRCm39)	Q121H	possibly damaging	Het
Cdca2	A	G	14: 67,917,614 (GRCm39)	S595P	probably damaging	Het
Cenpe	G	A	3: 134,948,064 (GRCm39)	E1208K	probably damaging	Het
Cfh	T	C	1: 140,075,384 (GRCm39)		probably benign	Het
Colq	T	A	14: 31,279,799 (GRCm39)	H9L	probably benign	Het
Coq8b	T	C	7: 26,951,747 (GRCm39)	I403T	possibly damaging	Het
Cyrib	T	A	15: 63,810,526 (GRCm39)	M234L	probably damaging	Het
Dcdc2a	C	A	13: 25,386,347 (GRCm39)	T407K	possibly damaging	Het
Dennd2b	T	C	7: 109,155,997 (GRCm39)	Y251C	probably benign	Het
Gask1b	A	T	3: 79,793,618 (GRCm39)	S29C	probably benign	Het
Grhl3	T	A	4: 135,286,415 (GRCm39)	K89*	probably null	Het
Inpp5f	A	G	7: 128,281,555 (GRCm39)	T519A	probably damaging	Het
Isl2	G	T	9: 55,449,561 (GRCm39)	R79L	probably benign	Het
Kif9	T	A	9: 110,350,336 (GRCm39)	D742E	probably damaging	Het
Lgi2	T	A	5: 52,711,792 (GRCm39)	K176M	probably damaging	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Lrch4	A	G	5: 137,627,665 (GRCm39)	D66G	probably damaging	Het
Milr1	G	A	11: 106,645,806 (GRCm39)	G116D	probably damaging	Het
Myof	T	C	19: 37,921,071 (GRCm39)	D1397G	possibly damaging	Het
Neurod2	T	C	11: 98,218,204 (GRCm39)	H320R	probably benign	Het
Nox3	A	T	17: 3,685,561 (GRCm39)	Y562*	probably null	Het
Nrap	G	A	19: 56,333,960 (GRCm39)	H884Y	possibly damaging	Het
Odad4	G	A	11: 100,440,719 (GRCm39)	D67N	probably damaging	Het
Pde3a	T	C	6: 141,426,981 (GRCm39)		probably null	Het
Pgm2l1	G	A	7: 99,910,965 (GRCm39)	C303Y	probably benign	Het
Plxna4	A	G	6: 32,493,932 (GRCm39)	I228T	probably damaging	Het
Prdm2	A	G	4: 142,861,536 (GRCm39)	S585P	probably benign	Het
Prpf6	T	C	2: 181,291,339 (GRCm39)	I718T	probably damaging	Het
Rpp40	T	C	13: 36,080,695 (GRCm39)		probably null	Het
Skic2	T	C	17: 35,063,802 (GRCm39)	D547G	probably benign	Het
Slc22a22	T	A	15: 57,118,519 (GRCm39)	Y264F	probably benign	Het
Slc5a4b	A	T	10: 75,896,221 (GRCm39)	L578*	probably null	Het
Sptan1	A	T	2: 29,883,736 (GRCm39)		probably benign	Het
Sult2a4	T	G	7: 13,722,316 (GRCm39)	I50L	probably benign	Het
Taar6	T	C	10: 23,860,683 (GRCm39)	T288A	possibly damaging	Het
Tmem71	C	T	15: 66,427,063 (GRCm39)	S44N	probably benign	Het
Tmem98	T	C	11: 80,710,758 (GRCm39)	V139A	probably damaging	Het
Triobp	T	C	15: 78,851,954 (GRCm39)	Y703H	probably benign	Het
Ttc34	A	G	4: 154,946,703 (GRCm39)	T868A	probably benign	Het
Ttn	C	T	2: 76,665,225 (GRCm39)		probably benign	Het
Vipas39	A	T	12: 87,286,601 (GRCm39)	W470R	probably damaging	Het
Vmn2r102	T	C	17: 19,897,003 (GRCm39)	Y117H	probably benign	Het
Vmn2r111	T	C	17: 22,790,001 (GRCm39)	N335S	possibly damaging	Het
Vmn2r70	A	G	7: 85,208,387 (GRCm39)	Y697H	probably damaging	Het
Wnk4	C	A	11: 101,156,203 (GRCm39)	R461S	probably damaging	Het
Xylb	T	A	9: 119,193,567 (GRCm39)	L87Q	probably damaging	Het
Zcchc9	T	A	13: 91,945,281 (GRCm39)	K101*	probably null	Het
Zfp503	C	A	14: 22,035,705 (GRCm39)	A404S	probably benign	Het
Zhx1	C	G	15: 57,917,470 (GRCm39)	G259R	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
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'- ATGAATGTGGAACCGAATAACCTACC -3'
(R):5'- AGGGTCGAAGGACAGCTTTC -3'

Sequencing Primer
(F):5'- TACCTAAGGGCAATAAATAGCAAAC -3'
(R):5'- GGTCGAAGGACAGCTTTCTATAATG -3'

Posted On

2016-07-06