Mutagenetix > Incidental Mutation

Incidental Mutation 'R7022:Pdzph1'

545727

Institutional Source

Beutler Lab

Gene Symbol

Pdzph1

Ensembl Gene

ENSMUSG00000024227

Gene Name

PDZ and pleckstrin homology domains 1

Synonyms

2610034M16Rik

MMRRC Submission

045123-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R7022 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58878808-58991375 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58974126 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 387 (D387G)

Ref Sequence

ENSEMBL: ENSMUSP00000025064 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025064]

AlphaFold

Q8BGR1

Predicted Effect

probably benign
Transcript: ENSMUST00000025064
AA Change: D387G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: D387G

Domain	Start	End	E-Value	Type
Blast:PDZ	780	844	6e-20	BLAST
PDZ	915	984	3.31e-15	SMART
PH	993	1096	9.4e-19	SMART
PH	1120	1218	2.83e-13	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 110,083,500	S203T	probably damaging	Het
Adat1	A	T	8: 111,989,862	M76K	probably damaging	Het
Ankrd33	G	C	15: 101,116,899	V56L	probably benign	Het
Ascc3	T	A	10: 50,716,629	L1134I	possibly damaging	Het
C3	T	G	17: 57,217,286	D948A	probably damaging	Het
Ccdc40	A	G	11: 119,231,786	E138G	possibly damaging	Het
Cd80	A	G	16: 38,486,504		probably null	Het
Cdca7	T	A	2: 72,479,529		probably null	Het
Chit1	A	G	1: 134,151,292	S447G	probably benign	Het
Cmya5	C	T	13: 93,069,278		probably null	Het
Cnnm2	T	A	19: 46,858,940		probably null	Het
Cnnm2	A	T	19: 46,762,550	I260F	probably damaging	Het
Col1a2	T	C	6: 4,534,639	L881P	unknown	Het
Crebbp	A	T	16: 4,117,323	S901T	probably damaging	Het
Dcun1d2	T	C	8: 13,271,637	Y158C	probably damaging	Het
Dnhd1	C	T	7: 105,720,798	P4477S	probably benign	Het
Donson	A	G	16: 91,681,330	Y428H	probably damaging	Het
Dsp	G	T	13: 38,191,740	W1167L	probably benign	Het
Elmo2	C	T	2: 165,295,041	V592M	probably damaging	Het
Enpp3	T	A	10: 24,826,195	E60D	probably damaging	Het
Fam83b	TAAGA	T	9: 76,502,112		probably null	Het
Fbxo38	A	G	18: 62,536,224	C52R	probably damaging	Het
Gm10912	T	C	2: 104,066,710	W65R	probably damaging	Het
Gm43518	A	T	5: 123,936,427	M44L	probably benign	Het
Gm4881	A	T	7: 24,931,664		probably null	Het
Gm6583	A	C	5: 112,355,529	M103R	probably benign	Het
Gnb1	T	A	4: 155,553,456	D212E	probably damaging	Het
Gnl1	A	G	17: 35,988,728	N597S	probably damaging	Het
Gprin1	T	G	13: 54,739,042	E473A	probably benign	Het
Ighv1-69	T	A	12: 115,623,214	M100L	probably benign	Het
Igkv14-100	T	C	6: 68,519,209	S29P	probably damaging	Het
Ints6	A	G	14: 62,714,337	V232A	probably damaging	Het
Jup	A	G	11: 100,379,553	L376P	probably damaging	Het
Kdr	A	T	5: 75,972,260	Y119*	probably null	Het
Kif1a	T	G	1: 93,066,098	T377P	probably benign	Het
Lama5	C	A	2: 180,180,731	V2850L	probably damaging	Het
Lrp2	T	C	2: 69,483,208	Y2393C	probably damaging	Het
Mfsd13a	C	T	19: 46,368,324	Q255*	probably null	Het
Msh3	A	C	13: 92,235,588	D891E	probably damaging	Het
Msl2	A	G	9: 101,075,282	N2D	possibly damaging	Het
Myo19	T	C	11: 84,900,547	L476P	probably damaging	Het
Nbeal2	G	A	9: 110,638,618	R501W	probably damaging	Het
Nfasc	C	A	1: 132,621,049	K293N	probably damaging	Het
Npbwr1	A	T	1: 5,917,100	L65Q	probably damaging	Het
Nrbp1	T	A	5: 31,244,481	D34E	probably damaging	Het
Nup205	T	A	6: 35,243,936	V1891D	probably benign	Het
Olfr172	T	C	16: 58,761,119	N19S	probably benign	Het
Olfr577	T	A	7: 102,973,968	N8I	possibly damaging	Het
Olfr936	G	T	9: 39,047,083	C156*	probably null	Het
Olfr998	T	A	2: 85,590,598	D19E	probably benign	Het
Oscp1	G	A	4: 126,082,990		probably null	Het
Pcdhgb7	A	G	18: 37,753,033	T419A	probably damaging	Het
Phc1	A	G	6: 122,335,031	F56S	probably damaging	Het
Pik3c2g	A	G	6: 139,622,063	E59G	possibly damaging	Het
Prickle1	G	T	15: 93,500,871	T692K	possibly damaging	Het
Rbm45	T	A	2: 76,376,394	L250Q	probably damaging	Het
Ror1	T	A	4: 100,407,911	M194K	probably damaging	Het
Rrbp1	T	A	2: 143,957,802		probably null	Het
Rundc3b	T	C	5: 8,512,348	K340R	probably null	Het
Scn1a	T	A	2: 66,317,899	T1101S	probably damaging	Het
Sdk1	C	G	5: 142,094,657		probably null	Het
Skiv2l	A	G	17: 34,845,207	F501S	possibly damaging	Het
Slc20a1	T	A	2: 129,200,059	M114K	probably damaging	Het
Sorl1	A	C	9: 41,969,751	I2158S	probably benign	Het
Strip1	A	T	3: 107,626,795	F174L	probably benign	Het
Sucnr1	A	T	3: 60,086,278	I76L	probably benign	Het
Syt17	C	T	7: 118,408,019	V412I	probably benign	Het
Tie1	T	A	4: 118,489,653	H18L	probably benign	Het
Tpp1	T	G	7: 105,748,922	K345Q	probably damaging	Het
Trcg1	G	A	9: 57,241,569	M141I	possibly damaging	Het
Trpc4ap	T	C	2: 155,657,822	N260S	probably benign	Het
Vps41	C	A	13: 18,842,268	T512K	possibly damaging	Het
Vps52	A	T	17: 33,959,319	M147L	probably benign	Het
Ywhaq	A	G	12: 21,391,751		probably benign	Het
Zfp619	A	G	7: 39,534,963	N139S	probably benign	Het

Other mutations in Pdzph1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Pdzph1	APN	17	58974796	missense	possibly damaging	0.46
IGL00644:Pdzph1	APN	17	58888110	missense	probably benign
IGL01413:Pdzph1	APN	17	58879152	missense	possibly damaging	0.82
IGL01530:Pdzph1	APN	17	58922715	missense	probably damaging	1.00
IGL02089:Pdzph1	APN	17	58967339	missense	possibly damaging	0.92
IGL02201:Pdzph1	APN	17	58967511	splice site	probably benign
IGL02548:Pdzph1	APN	17	58973391	missense	probably benign	0.10
IGL02618:Pdzph1	APN	17	58879073	utr 3 prime	probably benign
IGL02660:Pdzph1	APN	17	58880647	missense	probably damaging	0.97
IGL02749:Pdzph1	APN	17	58932483	missense	possibly damaging	0.95
IGL02876:Pdzph1	APN	17	58974069	missense	probably benign
IGL03304:Pdzph1	APN	17	58880646	missense	probably damaging	1.00
IGL03336:Pdzph1	APN	17	58974234	missense	probably benign	0.00
R0008:Pdzph1	UTSW	17	58922761	splice site	probably benign
R0008:Pdzph1	UTSW	17	58922761	splice site	probably benign
R0498:Pdzph1	UTSW	17	58973830	missense	probably benign	0.00
R0553:Pdzph1	UTSW	17	58922727	missense	probably damaging	1.00
R0594:Pdzph1	UTSW	17	58954479	missense	possibly damaging	0.76
R1306:Pdzph1	UTSW	17	58932432	missense	possibly damaging	0.90
R1370:Pdzph1	UTSW	17	58974087	missense	possibly damaging	0.73
R1382:Pdzph1	UTSW	17	58974747	missense	probably benign	0.10
R1463:Pdzph1	UTSW	17	58932445	missense	probably damaging	1.00
R1766:Pdzph1	UTSW	17	58973752	missense	probably benign	0.16
R1773:Pdzph1	UTSW	17	58974813	missense	probably damaging	0.98
R1862:Pdzph1	UTSW	17	58922583	missense	probably damaging	1.00
R2070:Pdzph1	UTSW	17	58974097	missense	probably benign	0.04
R2071:Pdzph1	UTSW	17	58974097	missense	probably benign	0.04
R2229:Pdzph1	UTSW	17	58932412	splice site	probably benign
R2264:Pdzph1	UTSW	17	58888167	critical splice acceptor site	probably null
R2334:Pdzph1	UTSW	17	58922649	missense	probably damaging	1.00
R3750:Pdzph1	UTSW	17	58973336	nonsense	probably null
R4700:Pdzph1	UTSW	17	58974546	missense	probably damaging	0.98
R4847:Pdzph1	UTSW	17	58973530	missense	possibly damaging	0.95
R4868:Pdzph1	UTSW	17	58974756	missense	probably benign	0.00
R5130:Pdzph1	UTSW	17	58922609	missense	probably damaging	1.00
R5329:Pdzph1	UTSW	17	58974880	missense	probably damaging	1.00
R5574:Pdzph1	UTSW	17	58973947	missense	probably benign	0.00
R5770:Pdzph1	UTSW	17	58879151	missense	probably damaging	1.00
R5795:Pdzph1	UTSW	17	58885867	missense	possibly damaging	0.47
R5842:Pdzph1	UTSW	17	58974412	missense	possibly damaging	0.64
R5851:Pdzph1	UTSW	17	58973746	missense	probably benign	0.02
R6158:Pdzph1	UTSW	17	58973627	missense	probably damaging	0.96
R6813:Pdzph1	UTSW	17	58974436	missense	probably benign	0.08
R7395:Pdzph1	UTSW	17	58879159	missense	possibly damaging	0.85
R7525:Pdzph1	UTSW	17	58967341	missense	possibly damaging	0.73
R7944:Pdzph1	UTSW	17	58932460	missense	probably damaging	1.00
R7945:Pdzph1	UTSW	17	58932460	missense	probably damaging	1.00
R7992:Pdzph1	UTSW	17	58879110	missense	possibly damaging	0.71
R8016:Pdzph1	UTSW	17	58932481	missense	probably damaging	0.98
R8116:Pdzph1	UTSW	17	58975143	missense	probably benign	0.01
R8273:Pdzph1	UTSW	17	58973014	missense	probably benign	0.00
R8523:Pdzph1	UTSW	17	58884013	missense	probably damaging	1.00
R8819:Pdzph1	UTSW	17	58880720	nonsense	probably null
R8820:Pdzph1	UTSW	17	58880720	nonsense	probably null
R8839:Pdzph1	UTSW	17	58950242	missense	probably benign	0.02
R8871:Pdzph1	UTSW	17	58888038	missense	probably damaging	1.00
R8898:Pdzph1	UTSW	17	58974339	missense	probably benign	0.00
R8959:Pdzph1	UTSW	17	58974604	missense	probably damaging	0.97
R9043:Pdzph1	UTSW	17	58973540	missense	probably benign	0.05
R9083:Pdzph1	UTSW	17	58954400	missense	possibly damaging	0.94
R9092:Pdzph1	UTSW	17	58973130	missense	probably damaging	1.00
R9682:Pdzph1	UTSW	17	58950267	missense	probably damaging	1.00
R9757:Pdzph1	UTSW	17	58974903	nonsense	probably null
R9774:Pdzph1	UTSW	17	58974756	missense	probably benign	0.00
X0028:Pdzph1	UTSW	17	58879121	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTGAGGCATCTTGAATGGG -3'
(R):5'- CCCTGTAGTGTTAATGCTGTCC -3'

Sequencing Primer
(F):5'- AGGCATCTTGAATGGGAATTATGC -3'
(R):5'- CTGTAGTGTTAATGCTGTCCAGAAAG -3'

Posted On

2019-05-13