Mutagenetix > Incidental Mutation

Incidental Mutation 'R8135:Phip'

632221

Institutional Source

Beutler Lab

Gene Symbol

Phip

Ensembl Gene

ENSMUSG00000032253

Gene Name

pleckstrin homology domain interacting protein

Synonyms

Ndrp, 4632404O06Rik, Wdr11, 2810004D21Rik

MMRRC Submission

067563-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8135 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82748212-82857569 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82812427 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 308 (N308K)

Ref Sequence

ENSEMBL: ENSMUSP00000034787 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034787
AA Change: N308K

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000034787
Gene: ENSMUSG00000032253
AA Change: N308K

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: ENSMUST00000189985
AA Change: N246K

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000140445
Gene: ENSMUSG00000032253
AA Change: N246K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000190822

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.7%
20x: 95.8%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	A	G	1: 78,674,712 (GRCm39)	I420V	probably benign	Het
Adam7	A	T	14: 68,754,022 (GRCm39)	M359K	probably damaging	Het
Adra1d	C	T	2: 131,403,692 (GRCm39)	A133T	probably damaging	Het
B3galnt2	T	A	13: 14,145,454 (GRCm39)		probably null	Het
Camk1g	A	G	1: 193,036,335 (GRCm39)	V175A	possibly damaging	Het
Cfi	A	G	3: 129,648,649 (GRCm39)	N178D	probably benign	Het
Csf2rb	T	A	15: 78,232,319 (GRCm39)	I542K	possibly damaging	Het
Ctsz	T	C	2: 174,270,946 (GRCm39)	T183A	probably benign	Het
Dhx8	A	G	11: 101,629,090 (GRCm39)	D213G	unknown	Het
Dph7	T	C	2: 24,859,556 (GRCm39)	I271T	probably benign	Het
Edem1	G	T	6: 108,806,022 (GRCm39)	E108*	probably null	Het
Enpp4	T	C	17: 44,412,226 (GRCm39)	T328A	probably benign	Het
Fasl	A	G	1: 161,614,697 (GRCm39)	V122A	probably benign	Het
Fut2	T	C	7: 45,300,566 (GRCm39)	T69A	probably damaging	Het
Gaa	T	C	11: 119,169,210 (GRCm39)		probably null	Het
Galnt5	T	A	2: 57,904,880 (GRCm39)	V481D	probably damaging	Het
Gsdma2	A	G	11: 98,542,872 (GRCm39)	I211V	probably benign	Het
H2-M10.4	T	C	17: 36,772,662 (GRCm39)	T107A	probably benign	Het
Iqcg	T	A	16: 32,849,394 (GRCm39)	K297N	probably benign	Het
Map2	A	G	1: 66,452,828 (GRCm39)	T573A	probably damaging	Het
Nhsl1	A	G	10: 18,407,180 (GRCm39)	D1438G	probably damaging	Het
Nipal2	A	T	15: 34,678,719 (GRCm39)	Y41N	possibly damaging	Het
Obscn	A	T	11: 58,922,703 (GRCm39)	S5878T	possibly damaging	Het
Pde6a	T	C	18: 61,418,996 (GRCm39)	F791L	probably damaging	Het
Pigc	A	G	1: 161,798,134 (GRCm39)	K39E	possibly damaging	Het
Robo2	T	G	16: 73,730,048 (GRCm39)	I1050L	probably benign	Het
Rps2	A	G	17: 24,939,409 (GRCm39)	K54E	probably benign	Het
Set	T	A	2: 29,959,439 (GRCm39)	D137E	probably benign	Het
Sipa1l1	A	G	12: 82,388,075 (GRCm39)	I100M	probably benign	Het
Spdye4b	T	C	5: 143,180,777 (GRCm39)	V81A	probably damaging	Het
Tbc1d2	T	C	4: 46,609,071 (GRCm39)	D722G	probably benign	Het
Tecpr1	T	A	5: 144,135,420 (GRCm39)	D1011V	probably damaging	Het
Unc80	A	T	1: 66,548,446 (GRCm39)	I573F	possibly damaging	Het
Vmn1r74	T	A	7: 11,581,530 (GRCm39)	C277S	probably benign	Het
Vwa1	T	A	4: 155,857,351 (GRCm39)	D149V	probably damaging	Het
Zfp397	T	A	18: 24,089,564 (GRCm39)	V23E	probably damaging	Het
Zmynd8	T	C	2: 165,654,346 (GRCm39)	D722G	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
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
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'- GGGAAGTACGGCATTCATGTG -3'
(R):5'- CCTGCTTTGCCAATGGGTTC -3'

Sequencing Primer
(F):5'- CGGCATTCATGTGATTTTTATACACC -3'
(R):5'- GCCAATGGGTTCATTTTTAAAGTTG -3'

Posted On

2020-06-30