Mutagenetix > Incidental Mutations

Incidental Mutation 'R5851:Pdzph1'

454701

Institutional Source

Beutler Lab

Gene Symbol

Pdzph1

Ensembl Gene

ENSMUSG00000024227

Gene Name

PDZ and pleckstrin homology domains 1

Synonyms

2610034M16Rik

MMRRC Submission

044067-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R5851 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58878808-58991375 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 58973746 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 514 (T514P)

Ref Sequence

ENSEMBL: ENSMUSP00000025064 (fasta)

Gene Model

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

AlphaFold

Q8BGR1

Predicted Effect

probably benign
Transcript: ENSMUST00000025064
AA Change: T514P

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: T514P

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930404N11Rik	A	T	10: 81,364,877		probably null	Het
Abca2	A	G	2: 25,442,310	N1452D	possibly damaging	Het
Abhd15	T	C	11: 77,518,447	L329P	probably benign	Het
Add3	T	C	19: 53,236,774	S442P	probably damaging	Het
Arhgef18	T	C	8: 3,434,980	F228L	probably damaging	Het
Bptf	A	T	11: 107,110,862	Y475N	probably damaging	Het
C3	T	C	17: 57,211,612	N1257S	probably null	Het
Ccdc94	C	T	17: 55,967,582	S298F	probably damaging	Het
Cd163l1	C	T	7: 140,228,027	P704S	possibly damaging	Het
Cdkl1	A	T	12: 69,756,564	Y179*	probably null	Het
Ceacam1	T	C	7: 25,474,600	N210S	possibly damaging	Het
Celf3	T	A	3: 94,479,126	I7N	probably damaging	Het
Cmpk1	A	G	4: 114,986,970	V55A	possibly damaging	Het
Csrnp1	C	T	9: 119,973,078	G305D	possibly damaging	Het
Dnah3	A	G	7: 120,039,362	S1266P	possibly damaging	Het
Edc4	T	C	8: 105,890,867	L1077P	probably damaging	Het
Efcab1	T	A	16: 14,920,436	L155H	probably damaging	Het
Fam174a	G	A	1: 95,325,143	G157S	probably damaging	Het
Fubp3	T	A	2: 31,598,610	D159E	probably benign	Het
Garem2	C	T	5: 30,114,290	T250M	probably damaging	Het
H2-Eb1	C	T	17: 34,309,771	P92L	probably benign	Het
Ifnl3	G	T	7: 28,523,511	C69F	probably damaging	Het
Itga2b	C	A	11: 102,457,601		probably benign	Het
Klhl33	A	T	14: 50,892,878	D386E	probably damaging	Het
Lin9	T	A	1: 180,669,198	L351I	probably benign	Het
Lor	G	A	3: 92,080,539	A480V	unknown	Het
Msh3	G	T	13: 92,215,522	Q1041K	probably benign	Het
Myo1e	G	A	9: 70,383,804	G959E	probably benign	Het
Nfat5	G	T	8: 107,347,727	V338L	probably damaging	Het
Nrf1	A	G	6: 30,089,976	H18R	possibly damaging	Het
Nup160	A	G	2: 90,707,038	D752G	probably benign	Het
Obscn	A	T	11: 58,994,700	L2489*	probably null	Het
Olfr1184	A	G	2: 88,486,860	I43V	possibly damaging	Het
Olfr638	A	G	7: 104,003,452	E59G	probably benign	Het
Paip1	T	C	13: 119,440,765	S215P	possibly damaging	Het
Pate2	T	A	9: 35,670,501	Y26*	probably null	Het
Pcdhb10	A	G	18: 37,412,758	I296V	probably benign	Het
Pnlip	G	A	19: 58,673,792	W123*	probably null	Het
Prmt2	C	A	10: 76,236,740	C9F	possibly damaging	Het
Rbl1	T	A	2: 157,167,325	K763N	probably benign	Het
Rfk	C	T	19: 17,395,198	A28V	probably damaging	Het
Sdk1	G	A	5: 141,962,669	V590I	probably benign	Het
Sele	A	G	1: 164,049,574	K140E	probably benign	Het
Skiv2l2	G	A	13: 112,908,952	R349W	probably damaging	Het
Sla	G	A	15: 66,783,723	T189I	probably damaging	Het
Slc46a2	A	G	4: 59,913,906	V339A	probably damaging	Het
Slc5a9	A	G	4: 111,885,600	F432L	probably benign	Het
Slc6a19	A	G	13: 73,691,740	F141S	possibly damaging	Het
Tas2r123	T	C	6: 132,847,308	L56S	probably damaging	Het
Tmem245	T	C	4: 56,916,770	I53V	probably benign	Het
Tor2a	A	T	2: 32,761,607	Q278L	probably benign	Het
Trav6-3	A	G	14: 53,430,115	M15V	probably benign	Het
Ttc28	G	A	5: 111,235,469		probably benign	Het
Ubap2	G	A	4: 41,206,268	Q534*	probably null	Het
Zfp954	C	A	7: 7,115,625	E307*	probably null	Het
Zscan21	A	G	5: 138,126,478	K219E	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
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
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
X0028:Pdzph1	UTSW	17	58879121	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGCTGTGAATATTGCCATGAAG -3'
(R):5'- AACCTTGCAGCTCTTGGGAG -3'

Sequencing Primer
(F):5'- CTCTTCGGAACTAGAATGCTGCAG -3'
(R):5'- CTCTTGGGAGCAAAAGCAGAC -3'

Posted On

2017-02-10