Mutagenetix > Incidental Mutation

Incidental Mutation 'R8273:Pdzph1'

637878

Institutional Source

Beutler Lab

Gene Symbol

Pdzph1

Ensembl Gene

ENSMUSG00000024227

Gene Name

PDZ and pleckstrin homology domains 1

Synonyms

2610034M16Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R8273 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58878808-58991375 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58973014 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 758 (Y758N)

Ref Sequence

ENSEMBL: ENSMUSP00000025064 (fasta)

Gene Model

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

AlphaFold

Q8BGR1

Predicted Effect

probably benign
Transcript: ENSMUST00000025064
AA Change: Y758N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: Y758N

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	A	3: 138,066,450	V467I	probably benign	Het
Ank1	G	A	8: 23,085,652	G167E	probably damaging	Het
Ano2	G	A	6: 125,982,720	V648M	probably damaging	Het
Ap3b2	A	G	7: 81,463,242	C954R	unknown	Het
Atp13a4	T	G	16: 29,471,902	Y243S		Het
Bend3	T	G	10: 43,510,903	C431G	probably damaging	Het
Ccdc57	G	A	11: 120,921,773	R52C	probably damaging	Het
Ccl22	T	C	8: 94,746,991	W55R	probably damaging	Het
Ccnk	A	G	12: 108,186,499	Y25C	probably damaging	Het
Cntnap5a	C	T	1: 116,571,541	P1174S	probably damaging	Het
Copa	T	C	1: 172,118,979		probably null	Het
Copg2	C	T	6: 30,816,126	V425M	probably benign	Het
Dnah6	T	C	6: 73,076,599	E2936G	probably benign	Het
Dnah6	T	A	6: 73,195,681	T265S	probably benign	Het
Erc2	A	G	14: 27,777,139	D324G	probably benign	Het
F11	T	A	8: 45,248,607	H363L	possibly damaging	Het
F7	T	C	8: 13,033,981	V222A	probably benign	Het
Fars2	A	G	13: 36,410,110	D366G	probably damaging	Het
Fbxl12	C	A	9: 20,638,864	R165L	possibly damaging	Het
Flot2	A	G	11: 78,059,195	I417V	probably benign	Het
Fmnl1	T	C	11: 103,186,699	F295S	probably damaging	Het
Gpr89	G	A	3: 96,905,189	T12I	probably benign	Het
Gprc6a	T	C	10: 51,631,274	D53G	probably benign	Het
Gtf2e1	T	A	16: 37,522,851	I184F	probably damaging	Het
Gtf2h1	G	A	7: 46,805,050	R152H	probably benign	Het
Haus3	A	G	5: 34,154,091	F532L	probably benign	Het
Inpp4a	A	G	1: 37,368,439		probably benign	Het
Klc4	A	T	17: 46,642,154	L150Q	possibly damaging	Het
Lzts3	C	T	2: 130,634,881	R549Q	possibly damaging	Het
Mbd5	T	A	2: 49,278,879	L1354Q	probably damaging	Het
Mtus2	A	G	5: 148,107,005	D801G	probably damaging	Het
Muc6	T	A	7: 141,640,528	T1411S	unknown	Het
Nalcn	C	A	14: 123,317,024	G954C	probably damaging	Het
Nlrp9b	G	A	7: 20,024,061	E408K	possibly damaging	Het
Oaz3	A	G	3: 94,435,127	L119P	probably damaging	Het
Olfr1361	A	G	13: 21,659,207	F39L	probably damaging	Het
Pcdhgb5	T	C	18: 37,732,187	V345A	probably benign	Het
Pea15a	T	A	1: 172,199,245	H65L	probably damaging	Het
Pigm	T	A	1: 172,377,957	I420N	probably benign	Het
Pign	A	G	1: 105,589,078	F580L	probably benign	Het
Pkhd1	T	C	1: 20,537,420		probably benign	Het
Plxnc1	T	C	10: 94,813,243	N1225D	probably benign	Het
Rbbp6	G	A	7: 122,990,324	D412N	probably benign	Het
Rftn1	G	T	17: 50,047,380	A318D	probably damaging	Het
Rtl1	A	G	12: 109,592,715	Y897H	possibly damaging	Het
Scube2	A	T	7: 109,809,176	F688Y	probably benign	Het
Sgo2b	C	A	8: 63,924,701	R1166L	unknown	Het
Slc12a2	G	T	18: 57,914,266		probably benign	Het
Smpdl3b	T	A	4: 132,738,401	H236L	probably damaging	Het
Spata9	C	A	13: 75,977,547		probably benign	Het
St6galnac4	A	G	2: 32,587,655		probably benign	Het
Stc2	T	A	11: 31,369,777	N29I	possibly damaging	Het
Sun5	A	T	2: 153,865,323	M145K	possibly damaging	Het
Tas2r106	T	C	6: 131,678,055	I278V	probably damaging	Het
Trrap	A	G	5: 144,791,165	I565M	probably damaging	Het
Ttl	A	G	2: 129,068,933	K79R	probably benign	Het
Ttn	A	T	2: 76,907,377	Y4319N	unknown	Het
Usp28	T	C	9: 49,026,882	L584P	probably damaging	Het
Wdr27	A	G	17: 14,829,576	S777P	probably benign	Het
Wdr34	A	T	2: 30,031,891	V486D	probably damaging	Het
Wee1	A	G	7: 110,124,484	D202G	probably benign	Het
Wnt5a	T	C	14: 28,522,605	Y270H	probably damaging	Het
Zfp318	G	A	17: 46,412,375	C1768Y	probably damaging	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
R7022:Pdzph1	UTSW	17	58974126	missense	probably benign	0.02
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
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'- AGCAGGCTGATAGATTCTTCTTC -3'
(R):5'- TGTAGGACACACTACAGAAAAGCTG -3'

Sequencing Primer
(F):5'- ACTCTAAAATGCTTAGCACATCTTG -3'
(R):5'- TGTTTCTTATTGATAAGACACTAGCC -3'

Posted On

2020-07-28