Mutagenetix > Incidental Mutation

Incidental Mutation 'R5458:Phip'

432884

Institutional Source

Beutler Lab

Gene Symbol

Phip

Ensembl Gene

ENSMUSG00000032253

Gene Name

pleckstrin homology domain interacting protein

Synonyms

Ndrp, 4632404O06Rik, Wdr11, 2810004D21Rik

MMRRC Submission

043021-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5458 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82748212-82857569 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 82808553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 474 (P474Q)

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: P474Q

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000034787
Gene: ENSMUSG00000032253
AA Change: P474Q

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: ENSMUST00000187021

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189927

Predicted Effect

probably benign
Transcript: ENSMUST00000189985

SMART Domains

Protein: ENSMUSP00000140445
Gene: ENSMUSG00000032253

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

noncoding transcript
Transcript: ENSMUST00000190405

Predicted Effect

unknown
Transcript: ENSMUST00000190822
AA Change: P39Q

Meta Mutation Damage Score

0.1124

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

98% (54/55)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrbp	A	G	6: 125,027,013 (GRCm39)		probably benign	Het
Acsl5	A	G	19: 55,282,662 (GRCm39)	D589G	probably damaging	Het
Akap13	T	A	7: 75,236,049 (GRCm39)	L208Q	probably damaging	Het
Ankfn1	C	T	11: 89,325,636 (GRCm39)	R512K	probably benign	Het
Ankhd1	T	C	18: 36,781,538 (GRCm39)	S2197P	probably benign	Het
Ankrd27	A	G	7: 35,291,236 (GRCm39)	N11D	probably damaging	Het
Aspg	T	C	12: 112,086,436 (GRCm39)	V230A	probably damaging	Het
Atp2c1	A	T	9: 105,291,924 (GRCm39)	Y709*	probably null	Het
Atp8b2	T	C	3: 89,853,329 (GRCm39)	N748D	probably benign	Het
B4galnt3	A	G	6: 120,187,346 (GRCm39)	V684A	probably damaging	Het
Bco2	T	C	9: 50,456,644 (GRCm39)		probably null	Het
Bcr	T	C	10: 74,990,792 (GRCm39)	V766A	probably benign	Het
Brca1	T	C	11: 101,408,111 (GRCm39)	N1404S	possibly damaging	Het
Cfap251	A	G	5: 123,392,508 (GRCm39)		probably benign	Het
Chd1	A	G	17: 15,958,811 (GRCm39)	D621G	probably damaging	Het
Chek1	A	G	9: 36,625,725 (GRCm39)	S307P	probably benign	Het
Dhx29	T	C	13: 113,103,155 (GRCm39)	M1345T	probably benign	Het
Dnah6	T	A	6: 73,063,168 (GRCm39)	T2697S	probably damaging	Het
Ephb4	T	C	5: 137,368,114 (GRCm39)	V753A	probably damaging	Het
Fat1	T	C	8: 45,466,090 (GRCm39)	Y1427H	probably damaging	Het
Fggy	A	G	4: 95,814,980 (GRCm39)	Q445R	probably benign	Het
Fv1	A	G	4: 147,954,726 (GRCm39)	S431G	probably benign	Het
Gm5965	A	T	16: 88,575,395 (GRCm39)	R189S	probably benign	Het
Gnas	A	G	2: 174,140,124 (GRCm39)	I98V	probably benign	Het
Ino80	T	C	2: 119,242,910 (GRCm39)	N1086D	possibly damaging	Het
Lclat1	T	C	17: 73,546,914 (GRCm39)	L277P	probably damaging	Het
Lipc	T	C	9: 70,759,864 (GRCm39)		probably benign	Het
Myo3a	T	C	2: 22,250,361 (GRCm39)	I76T	probably damaging	Het
Nkpd1	C	A	7: 19,258,201 (GRCm39)	A510E	probably damaging	Het
Nlgn2	G	T	11: 69,718,726 (GRCm39)	Q285K	possibly damaging	Het
Or8s5	G	A	15: 98,238,246 (GRCm39)	A208V	probably benign	Het
Pax5	T	C	4: 44,679,526 (GRCm39)	D172G	probably damaging	Het
Pcdh15	T	A	10: 74,340,611 (GRCm39)	V1115D	probably damaging	Het
Pdzd7	T	C	19: 45,016,230 (GRCm39)	S964G	probably benign	Het
Pop5	C	T	5: 115,378,496 (GRCm39)		probably benign	Het
Ppfibp1	A	T	6: 146,913,933 (GRCm39)		probably benign	Het
Rdh11	C	T	12: 79,235,279 (GRCm39)	A106T	probably benign	Het
Rin3	A	G	12: 102,339,975 (GRCm39)	T642A	probably damaging	Het
Scmh1	C	T	4: 120,362,478 (GRCm39)		probably benign	Het
Skint2	A	G	4: 112,481,377 (GRCm39)	H80R	possibly damaging	Het
Spata16	A	T	3: 26,831,686 (GRCm39)	N265I	probably damaging	Het
Srpk1	T	C	17: 28,818,446 (GRCm39)		probably null	Het
Tcaf1	T	C	6: 42,663,476 (GRCm39)	T135A	probably benign	Het
Trappc12	A	G	12: 28,796,389 (GRCm39)	V381A	probably damaging	Het
Trim33	T	A	3: 103,237,496 (GRCm39)	I184K	possibly damaging	Het
Unc13a	C	T	8: 72,116,889 (GRCm39)	V62M	probably damaging	Het
Vrk2	A	G	11: 26,448,919 (GRCm39)	V225A	probably damaging	Het
Wdr95	C	T	5: 149,487,879 (GRCm39)	P171L	probably damaging	Het
Wsb1	T	C	11: 79,139,262 (GRCm39)	T75A	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
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'- TTCGCTTGTGATATGCAGAGCC -3'
(R):5'- AGGATTGACTTGGAAATGCATC -3'

Sequencing Primer
(F):5'- GAGCCCTTCTGTCAAAAATATCC -3'
(R):5'- CATCATAAATGCTTGCTGTGTTTG -3'

Posted On

2016-10-06