Mutagenetix > Incidental Mutation

Incidental Mutation 'R2099:Phip'

233248

Institutional Source

Beutler Lab

Gene Symbol

Phip

Ensembl Gene

ENSMUSG00000032253

Gene Name

pleckstrin homology domain interacting protein

Synonyms

Ndrp, 4632404O06Rik, Wdr11, 2810004D21Rik

MMRRC Submission

040103-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2099 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82748212-82857569 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82797392 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 537 (H537R)

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: H537R

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034787
Gene: ENSMUSG00000032253
AA Change: H537R

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

Meta Mutation Damage Score

0.4974

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.7%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	G	A	17: 45,817,820 (GRCm39)	R14Q	unknown	Het
Aga	C	A	8: 53,974,166 (GRCm39)	Y286*	probably null	Het
Anks1	T	C	17: 28,197,465 (GRCm39)		probably null	Het
Arih2	A	T	9: 108,493,937 (GRCm39)	F159I	probably damaging	Het
Asxl1	A	T	2: 153,194,187 (GRCm39)	M46L	possibly damaging	Het
Atp23	G	T	10: 126,727,595 (GRCm39)		probably null	Het
Carmil1	T	A	13: 24,357,650 (GRCm39)	L66F	probably benign	Het
Chd9	C	T	8: 91,760,615 (GRCm39)	P2120L	probably benign	Het
Cramp1	A	G	17: 25,192,059 (GRCm39)	V1027A	probably benign	Het
Cx3cr1	G	A	9: 119,881,339 (GRCm39)	A21V	probably benign	Het
Dcxr	A	G	11: 120,616,403 (GRCm39)	F221S	probably damaging	Het
Dio2	T	C	12: 90,696,597 (GRCm39)	*130W	probably null	Het
Dnah2	T	C	11: 69,384,063 (GRCm39)	D1051G	probably damaging	Het
Ehbp1l1	T	C	19: 5,768,429 (GRCm39)	E958G	possibly damaging	Het
Eif3a	C	A	19: 60,752,551 (GRCm39)		probably benign	Het
Ephb2	T	C	4: 136,388,066 (GRCm39)	D678G	probably damaging	Het
Fpr3	G	T	17: 18,191,443 (GRCm39)	R238L	probably damaging	Het
Frem3	A	G	8: 81,342,488 (GRCm39)	S1594G	probably benign	Het
Gbp4	A	C	5: 105,268,947 (GRCm39)	L402W	probably damaging	Het
Gdpd5	T	A	7: 99,097,696 (GRCm39)	L164Q	probably damaging	Het
Il4i1	T	C	7: 44,487,616 (GRCm39)		probably null	Het
Kcp	G	T	6: 29,496,164 (GRCm39)	C723*	probably null	Het
Klhl18	A	G	9: 110,284,486 (GRCm39)	F2L	probably damaging	Het
Lepr	T	A	4: 101,630,185 (GRCm39)	D633E	probably damaging	Het
Lifr	A	G	15: 7,186,732 (GRCm39)	I79V	probably benign	Het
Mcrs1	A	G	15: 99,147,827 (GRCm39)	S27P	probably benign	Het
Mmp3	A	G	9: 7,453,672 (GRCm39)	D431G	probably benign	Het
Mtor	T	A	4: 148,634,649 (GRCm39)	Y2423*	probably null	Het
Ndc80	A	T	17: 71,811,773 (GRCm39)	D484E	probably benign	Het
Ndufb8	T	A	19: 44,543,749 (GRCm39)		probably benign	Het
Nmur2	A	T	11: 55,931,589 (GRCm39)	S41T	probably benign	Het
Notch2	T	C	3: 98,022,637 (GRCm39)	C819R	possibly damaging	Het
Or10d3	A	G	9: 39,461,963 (GRCm39)	V68A	probably benign	Het
Or4f7	A	G	2: 111,644,177 (GRCm39)	I298T	probably benign	Het
Or6c35	A	T	10: 129,169,152 (GRCm39)	N134I	probably damaging	Het
Pheta1	C	T	5: 121,991,349 (GRCm39)	P237L	possibly damaging	Het
Samd7	T	C	3: 30,810,709 (GRCm39)	V242A	probably benign	Het
Sde2	T	C	1: 180,693,713 (GRCm39)	L401P	probably damaging	Het
Slc20a1	A	G	2: 129,049,758 (GRCm39)	D340G	probably benign	Het
Slc2a5	T	A	4: 150,227,634 (GRCm39)	Y484*	probably null	Het
Spata31d1a	A	G	13: 59,853,885 (GRCm39)	L27P	probably damaging	Het
Sqstm1	T	C	11: 50,093,811 (GRCm39)	T269A	possibly damaging	Het
Syne2	T	C	12: 76,026,747 (GRCm39)	V3525A	probably benign	Het
Tctn1	G	A	5: 122,380,772 (GRCm39)	P512L	probably damaging	Het
Tlr1	A	G	5: 65,082,411 (GRCm39)	F722S	probably damaging	Het
Treh	A	G	9: 44,595,943 (GRCm39)	Y376C	probably damaging	Het
Trim47	T	C	11: 115,997,170 (GRCm39)	N529S	probably damaging	Het
Trrap	T	C	5: 144,719,049 (GRCm39)	V184A	possibly damaging	Het
Tyrp1	T	A	4: 80,753,616 (GRCm39)	N102K	possibly damaging	Het
Uspl1	T	A	5: 149,151,568 (GRCm39)	S724T	probably damaging	Het
Vmn2r2	C	A	3: 64,024,474 (GRCm39)	K702N	probably damaging	Het
Zfp267	C	T	3: 36,218,361 (GRCm39)	T128I	possibly 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
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
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'- TTTAAGATAGGACTCCTTGAGCTG -3'
(R):5'- TCTCTGGGTGGGAGGAGAAATC -3'

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

Posted On

2014-09-18