Mutagenetix > Incidental Mutation

Incidental Mutation 'R5842:Pdzph1'

450516

Institutional Source

Beutler Lab

Gene Symbol

Pdzph1

Ensembl Gene

ENSMUSG00000024227

Gene Name

PDZ and pleckstrin homology domains 1

Synonyms

2610034M16Rik

MMRRC Submission

043223-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R5842 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59185803-59298344 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 59281407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 292 (S292R)

Ref Sequence

ENSEMBL: ENSMUSP00000025064 (fasta)

Gene Model

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

AlphaFold

Q8BGR1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025064
AA Change: S292R

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: S292R

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: 99.8%
3x: 99.4%
10x: 97.1%
20x: 90.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk1	G	A	3: 127,474,618 (GRCm39)	H462Y	probably damaging	Het
Atp12a	T	C	14: 56,615,747 (GRCm39)	I503T	probably damaging	Het
Bmp6	T	A	13: 38,530,543 (GRCm39)	V212D	probably damaging	Het
Col7a1	A	G	9: 108,794,883 (GRCm39)	D1479G	unknown	Het
Eea1	A	G	10: 95,853,986 (GRCm39)	D548G	probably damaging	Het
Eif5a2	T	C	3: 28,848,546 (GRCm39)	V135A	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fstl5	T	G	3: 76,229,590 (GRCm39)	N130K	possibly damaging	Het
Gatm	T	C	2: 122,434,108 (GRCm39)	I147V	probably benign	Het
Jakmip1	C	T	5: 37,264,612 (GRCm39)	R418C	probably damaging	Het
Kmt2d	G	A	15: 98,749,990 (GRCm39)		probably benign	Het
Matn2	A	T	15: 34,399,202 (GRCm39)	D363V	probably damaging	Het
Mov10	G	A	3: 104,706,695 (GRCm39)		probably benign	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Nbas	T	C	12: 13,319,267 (GRCm39)		probably null	Het
Nlgn1	A	T	3: 26,187,892 (GRCm39)		probably null	Het
Nnt	T	A	13: 119,531,283 (GRCm39)	I155F	probably damaging	Het
Or5p80	A	G	7: 108,229,859 (GRCm39)	Y220C	probably benign	Het
Pacc1	G	T	1: 191,078,986 (GRCm39)	C223F	probably damaging	Het
Parp9	A	G	16: 35,763,778 (GRCm39)	I19V	possibly damaging	Het
Pcdha11	T	A	18: 37,144,337 (GRCm39)	S143T	possibly damaging	Het
Pmvk	T	A	3: 89,374,927 (GRCm39)	V108D	probably damaging	Het
Rc3h2	T	C	2: 37,268,383 (GRCm39)	T916A	possibly damaging	Het
Slc23a1	T	A	18: 35,755,935 (GRCm39)	I393F	probably damaging	Het
Slc4a7	T	A	14: 14,778,866 (GRCm38)	M925K	probably damaging	Het
Spag17	A	G	3: 99,846,566 (GRCm39)	D30G	possibly damaging	Het
Syde2	A	G	3: 145,704,775 (GRCm39)	I576V	probably benign	Het
Tgm2	C	T	2: 157,985,001 (GRCm39)	R35H	probably damaging	Het
Tiam1	A	G	16: 89,652,887 (GRCm39)	V745A	probably benign	Het
Timeless	T	C	10: 128,083,328 (GRCm39)		probably null	Het
Trp53tg5	T	C	2: 164,313,289 (GRCm39)	K129E	possibly damaging	Het
Ttc6	T	C	12: 57,783,802 (GRCm39)	Y1754H	probably damaging	Het
Ube4b	G	T	4: 149,415,887 (GRCm39)	T1069N	probably benign	Het
Ugcg	C	T	4: 59,219,545 (GRCm39)	S294L	possibly damaging	Het
Vgll2	T	C	10: 51,901,388 (GRCm39)	L106P	probably damaging	Het
Vsig10l	T	A	7: 43,118,396 (GRCm39)	V798E	probably benign	Het
Wdr73	A	T	7: 80,541,458 (GRCm39)	H361Q	probably damaging	Het
Xrcc3	A	T	12: 111,770,964 (GRCm39)	F322I	possibly damaging	Het
Ypel1	T	C	16: 16,912,851 (GRCm39)	T26A	possibly damaging	Het

Other mutations in Pdzph1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Pdzph1	APN	17	59,281,791 (GRCm39)	missense	possibly damaging	0.46
IGL00644:Pdzph1	APN	17	59,195,105 (GRCm39)	missense	probably benign
IGL01413:Pdzph1	APN	17	59,186,147 (GRCm39)	missense	possibly damaging	0.82
IGL01530:Pdzph1	APN	17	59,229,710 (GRCm39)	missense	probably damaging	1.00
IGL02089:Pdzph1	APN	17	59,274,334 (GRCm39)	missense	possibly damaging	0.92
IGL02201:Pdzph1	APN	17	59,274,506 (GRCm39)	splice site	probably benign
IGL02548:Pdzph1	APN	17	59,280,386 (GRCm39)	missense	probably benign	0.10
IGL02618:Pdzph1	APN	17	59,186,068 (GRCm39)	utr 3 prime	probably benign
IGL02660:Pdzph1	APN	17	59,187,642 (GRCm39)	missense	probably damaging	0.97
IGL02749:Pdzph1	APN	17	59,239,478 (GRCm39)	missense	possibly damaging	0.95
IGL02876:Pdzph1	APN	17	59,281,064 (GRCm39)	missense	probably benign
IGL03304:Pdzph1	APN	17	59,187,641 (GRCm39)	missense	probably damaging	1.00
IGL03336:Pdzph1	APN	17	59,281,229 (GRCm39)	missense	probably benign	0.00
R0008:Pdzph1	UTSW	17	59,229,756 (GRCm39)	splice site	probably benign
R0008:Pdzph1	UTSW	17	59,229,756 (GRCm39)	splice site	probably benign
R0498:Pdzph1	UTSW	17	59,280,825 (GRCm39)	missense	probably benign	0.00
R0553:Pdzph1	UTSW	17	59,229,722 (GRCm39)	missense	probably damaging	1.00
R0594:Pdzph1	UTSW	17	59,261,474 (GRCm39)	missense	possibly damaging	0.76
R1306:Pdzph1	UTSW	17	59,239,427 (GRCm39)	missense	possibly damaging	0.90
R1370:Pdzph1	UTSW	17	59,281,082 (GRCm39)	missense	possibly damaging	0.73
R1382:Pdzph1	UTSW	17	59,281,742 (GRCm39)	missense	probably benign	0.10
R1463:Pdzph1	UTSW	17	59,239,440 (GRCm39)	missense	probably damaging	1.00
R1766:Pdzph1	UTSW	17	59,280,747 (GRCm39)	missense	probably benign	0.16
R1773:Pdzph1	UTSW	17	59,281,808 (GRCm39)	missense	probably damaging	0.98
R1862:Pdzph1	UTSW	17	59,229,578 (GRCm39)	missense	probably damaging	1.00
R2070:Pdzph1	UTSW	17	59,281,092 (GRCm39)	missense	probably benign	0.04
R2071:Pdzph1	UTSW	17	59,281,092 (GRCm39)	missense	probably benign	0.04
R2229:Pdzph1	UTSW	17	59,239,407 (GRCm39)	splice site	probably benign
R2264:Pdzph1	UTSW	17	59,195,162 (GRCm39)	critical splice acceptor site	probably null
R2334:Pdzph1	UTSW	17	59,229,644 (GRCm39)	missense	probably damaging	1.00
R3750:Pdzph1	UTSW	17	59,280,331 (GRCm39)	nonsense	probably null
R4700:Pdzph1	UTSW	17	59,281,541 (GRCm39)	missense	probably damaging	0.98
R4847:Pdzph1	UTSW	17	59,280,525 (GRCm39)	missense	possibly damaging	0.95
R4868:Pdzph1	UTSW	17	59,281,751 (GRCm39)	missense	probably benign	0.00
R5130:Pdzph1	UTSW	17	59,229,604 (GRCm39)	missense	probably damaging	1.00
R5329:Pdzph1	UTSW	17	59,281,875 (GRCm39)	missense	probably damaging	1.00
R5574:Pdzph1	UTSW	17	59,280,942 (GRCm39)	missense	probably benign	0.00
R5770:Pdzph1	UTSW	17	59,186,146 (GRCm39)	missense	probably damaging	1.00
R5795:Pdzph1	UTSW	17	59,192,862 (GRCm39)	missense	possibly damaging	0.47
R5851:Pdzph1	UTSW	17	59,280,741 (GRCm39)	missense	probably benign	0.02
R6158:Pdzph1	UTSW	17	59,280,622 (GRCm39)	missense	probably damaging	0.96
R6813:Pdzph1	UTSW	17	59,281,431 (GRCm39)	missense	probably benign	0.08
R7022:Pdzph1	UTSW	17	59,281,121 (GRCm39)	missense	probably benign	0.02
R7395:Pdzph1	UTSW	17	59,186,154 (GRCm39)	missense	possibly damaging	0.85
R7525:Pdzph1	UTSW	17	59,274,336 (GRCm39)	missense	possibly damaging	0.73
R7944:Pdzph1	UTSW	17	59,239,455 (GRCm39)	missense	probably damaging	1.00
R7945:Pdzph1	UTSW	17	59,239,455 (GRCm39)	missense	probably damaging	1.00
R7992:Pdzph1	UTSW	17	59,186,105 (GRCm39)	missense	possibly damaging	0.71
R8016:Pdzph1	UTSW	17	59,239,476 (GRCm39)	missense	probably damaging	0.98
R8116:Pdzph1	UTSW	17	59,282,138 (GRCm39)	missense	probably benign	0.01
R8273:Pdzph1	UTSW	17	59,280,009 (GRCm39)	missense	probably benign	0.00
R8523:Pdzph1	UTSW	17	59,191,008 (GRCm39)	missense	probably damaging	1.00
R8819:Pdzph1	UTSW	17	59,187,715 (GRCm39)	nonsense	probably null
R8820:Pdzph1	UTSW	17	59,187,715 (GRCm39)	nonsense	probably null
R8839:Pdzph1	UTSW	17	59,257,237 (GRCm39)	missense	probably benign	0.02
R8871:Pdzph1	UTSW	17	59,195,033 (GRCm39)	missense	probably damaging	1.00
R8898:Pdzph1	UTSW	17	59,281,334 (GRCm39)	missense	probably benign	0.00
R8959:Pdzph1	UTSW	17	59,281,599 (GRCm39)	missense	probably damaging	0.97
R9043:Pdzph1	UTSW	17	59,280,535 (GRCm39)	missense	probably benign	0.05
R9083:Pdzph1	UTSW	17	59,261,395 (GRCm39)	missense	possibly damaging	0.94
R9092:Pdzph1	UTSW	17	59,280,125 (GRCm39)	missense	probably damaging	1.00
R9682:Pdzph1	UTSW	17	59,257,262 (GRCm39)	missense	probably damaging	1.00
R9757:Pdzph1	UTSW	17	59,281,898 (GRCm39)	nonsense	probably null
R9774:Pdzph1	UTSW	17	59,281,751 (GRCm39)	missense	probably benign	0.00
X0028:Pdzph1	UTSW	17	59,186,116 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTAAGACCTTCTGCGGAGAG -3'
(R):5'- CTTCAGTGAACATAAGCATTGTAGG -3'

Sequencing Primer
(F):5'- AGAGGTAGCAGACTCTCCCTC -3'
(R):5'- AGTGAACATAAGCATTGTAGGAAAAG -3'

Posted On

2016-12-20