Mutagenetix > Incidental Mutation

Incidental Mutation 'R1382:Pdzph1'

163111

Institutional Source

Beutler Lab

Gene Symbol

Pdzph1

Ensembl Gene

ENSMUSG00000024227

Gene Name

PDZ and pleckstrin homology domains 1

Synonyms

2610034M16Rik

MMRRC Submission

039444-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R1382 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58878808-58991375 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58974747 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 180 (V180A)

Ref Sequence

ENSEMBL: ENSMUSP00000025064 (fasta)

Gene Model

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

AlphaFold

Q8BGR1

Predicted Effect

probably benign
Transcript: ENSMUST00000025064
AA Change: V180A

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: V180A

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: 98.9%
3x: 97.9%
10x: 95.0%
20x: 88.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago2	C	T	15: 73,127,040 (GRCm38)	C236Y	probably benign	Het
Arhgef6	T	C	X: 57,338,562 (GRCm38)	M5V	probably benign	Het
Asap2	A	G	12: 21,265,954 (GRCm38)	T916A	probably damaging	Het
Ceacam5	T	C	7: 17,752,165 (GRCm38)	V529A	probably benign	Het
Cep192	G	A	18: 67,856,299 (GRCm38)	R1839Q	possibly damaging	Het
Cope	A	G	8: 70,312,863 (GRCm38)	N295S	probably benign	Het
Crocc2	G	A	1: 93,217,093 (GRCm38)		probably null	Het
Cuedc1	C	T	11: 88,177,363 (GRCm38)	P146S	probably benign	Het
Ddc	T	C	11: 11,824,856 (GRCm38)	D345G	possibly damaging	Het
Dsg4	T	A	18: 20,465,124 (GRCm38)	C700S	probably benign	Het
Dst	A	T	1: 34,268,833 (GRCm38)	E6224D	probably damaging	Het
Exo1	A	G	1: 175,893,796 (GRCm38)	T334A	probably damaging	Het
Gjb3	G	A	4: 127,326,431 (GRCm38)	R103W	probably damaging	Het
Glyr1	GCTGCC	G	16: 5,021,345 (GRCm38)		probably null	Het
Gm17727	T	A	9: 35,778,094 (GRCm38)		probably benign	Het
Gtf3c3	C	T	1: 54,417,778 (GRCm38)	A488T	probably damaging	Het
Lemd3	A	T	10: 120,931,736 (GRCm38)	I711K	probably damaging	Het
Lrrc8b	A	G	5: 105,480,883 (GRCm38)	D365G	probably damaging	Het
Mdga2	A	T	12: 66,470,916 (GRCm38)	I48K	possibly damaging	Het
Olfr638	G	T	7: 104,003,720 (GRCm38)	L148F	probably benign	Het
Phactr1	T	C	13: 43,132,975 (GRCm38)	F584S	probably damaging	Het
Ppan	A	G	9: 20,891,918 (GRCm38)	K429E	probably benign	Het
Prkd3	A	G	17: 78,957,245 (GRCm38)	V647A	probably damaging	Het
Prl2c2	G	C	13: 13,002,201 (GRCm38)	T47R	probably damaging	Het
Ptpro	T	A	6: 137,443,594 (GRCm38)	V1007D	probably damaging	Het
Ptpru	A	G	4: 131,808,229 (GRCm38)	F407S	probably damaging	Het
Rab3gap1	A	T	1: 127,942,596 (GRCm38)	T985S	probably damaging	Het
Slc5a2	G	C	7: 128,270,631 (GRCm38)	R412P	probably damaging	Het
Sned1	G	A	1: 93,281,654 (GRCm38)	V830M	possibly damaging	Het
Tet2	C	T	3: 133,476,615 (GRCm38)	G1196D	probably damaging	Het
Tub	G	A	7: 109,030,153 (GRCm38)	V426I	probably damaging	Het
Wdr75	A	G	1: 45,817,311 (GRCm38)	Y498C	probably damaging	Het

Other mutations in Pdzph1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Pdzph1	APN	17	58,974,796 (GRCm38)	missense	possibly damaging	0.46
IGL00644:Pdzph1	APN	17	58,888,110 (GRCm38)	missense	probably benign
IGL01413:Pdzph1	APN	17	58,879,152 (GRCm38)	missense	possibly damaging	0.82
IGL01530:Pdzph1	APN	17	58,922,715 (GRCm38)	missense	probably damaging	1.00
IGL02089:Pdzph1	APN	17	58,967,339 (GRCm38)	missense	possibly damaging	0.92
IGL02201:Pdzph1	APN	17	58,967,511 (GRCm38)	splice site	probably benign
IGL02548:Pdzph1	APN	17	58,973,391 (GRCm38)	missense	probably benign	0.10
IGL02618:Pdzph1	APN	17	58,879,073 (GRCm38)	utr 3 prime	probably benign
IGL02660:Pdzph1	APN	17	58,880,647 (GRCm38)	missense	probably damaging	0.97
IGL02749:Pdzph1	APN	17	58,932,483 (GRCm38)	missense	possibly damaging	0.95
IGL02876:Pdzph1	APN	17	58,974,069 (GRCm38)	missense	probably benign
IGL03304:Pdzph1	APN	17	58,880,646 (GRCm38)	missense	probably damaging	1.00
IGL03336:Pdzph1	APN	17	58,974,234 (GRCm38)	missense	probably benign	0.00
R0008:Pdzph1	UTSW	17	58,922,761 (GRCm38)	splice site	probably benign
R0008:Pdzph1	UTSW	17	58,922,761 (GRCm38)	splice site	probably benign
R0498:Pdzph1	UTSW	17	58,973,830 (GRCm38)	missense	probably benign	0.00
R0553:Pdzph1	UTSW	17	58,922,727 (GRCm38)	missense	probably damaging	1.00
R0594:Pdzph1	UTSW	17	58,954,479 (GRCm38)	missense	possibly damaging	0.76
R1306:Pdzph1	UTSW	17	58,932,432 (GRCm38)	missense	possibly damaging	0.90
R1370:Pdzph1	UTSW	17	58,974,087 (GRCm38)	missense	possibly damaging	0.73
R1463:Pdzph1	UTSW	17	58,932,445 (GRCm38)	missense	probably damaging	1.00
R1766:Pdzph1	UTSW	17	58,973,752 (GRCm38)	missense	probably benign	0.16
R1773:Pdzph1	UTSW	17	58,974,813 (GRCm38)	missense	probably damaging	0.98
R1862:Pdzph1	UTSW	17	58,922,583 (GRCm38)	missense	probably damaging	1.00
R2070:Pdzph1	UTSW	17	58,974,097 (GRCm38)	missense	probably benign	0.04
R2071:Pdzph1	UTSW	17	58,974,097 (GRCm38)	missense	probably benign	0.04
R2229:Pdzph1	UTSW	17	58,932,412 (GRCm38)	splice site	probably benign
R2264:Pdzph1	UTSW	17	58,888,167 (GRCm38)	critical splice acceptor site	probably null
R2334:Pdzph1	UTSW	17	58,922,649 (GRCm38)	missense	probably damaging	1.00
R3750:Pdzph1	UTSW	17	58,973,336 (GRCm38)	nonsense	probably null
R4700:Pdzph1	UTSW	17	58,974,546 (GRCm38)	missense	probably damaging	0.98
R4847:Pdzph1	UTSW	17	58,973,530 (GRCm38)	missense	possibly damaging	0.95
R4868:Pdzph1	UTSW	17	58,974,756 (GRCm38)	missense	probably benign	0.00
R5130:Pdzph1	UTSW	17	58,922,609 (GRCm38)	missense	probably damaging	1.00
R5329:Pdzph1	UTSW	17	58,974,880 (GRCm38)	missense	probably damaging	1.00
R5574:Pdzph1	UTSW	17	58,973,947 (GRCm38)	missense	probably benign	0.00
R5770:Pdzph1	UTSW	17	58,879,151 (GRCm38)	missense	probably damaging	1.00
R5795:Pdzph1	UTSW	17	58,885,867 (GRCm38)	missense	possibly damaging	0.47
R5842:Pdzph1	UTSW	17	58,974,412 (GRCm38)	missense	possibly damaging	0.64
R5851:Pdzph1	UTSW	17	58,973,746 (GRCm38)	missense	probably benign	0.02
R6158:Pdzph1	UTSW	17	58,973,627 (GRCm38)	missense	probably damaging	0.96
R6813:Pdzph1	UTSW	17	58,974,436 (GRCm38)	missense	probably benign	0.08
R7022:Pdzph1	UTSW	17	58,974,126 (GRCm38)	missense	probably benign	0.02
R7395:Pdzph1	UTSW	17	58,879,159 (GRCm38)	missense	possibly damaging	0.85
R7525:Pdzph1	UTSW	17	58,967,341 (GRCm38)	missense	possibly damaging	0.73
R7944:Pdzph1	UTSW	17	58,932,460 (GRCm38)	missense	probably damaging	1.00
R7945:Pdzph1	UTSW	17	58,932,460 (GRCm38)	missense	probably damaging	1.00
R7992:Pdzph1	UTSW	17	58,879,110 (GRCm38)	missense	possibly damaging	0.71
R8016:Pdzph1	UTSW	17	58,932,481 (GRCm38)	missense	probably damaging	0.98
R8116:Pdzph1	UTSW	17	58,975,143 (GRCm38)	missense	probably benign	0.01
R8273:Pdzph1	UTSW	17	58,973,014 (GRCm38)	missense	probably benign	0.00
R8523:Pdzph1	UTSW	17	58,884,013 (GRCm38)	missense	probably damaging	1.00
R8819:Pdzph1	UTSW	17	58,880,720 (GRCm38)	nonsense	probably null
R8820:Pdzph1	UTSW	17	58,880,720 (GRCm38)	nonsense	probably null
R8839:Pdzph1	UTSW	17	58,950,242 (GRCm38)	missense	probably benign	0.02
R8871:Pdzph1	UTSW	17	58,888,038 (GRCm38)	missense	probably damaging	1.00
R8898:Pdzph1	UTSW	17	58,974,339 (GRCm38)	missense	probably benign	0.00
R8959:Pdzph1	UTSW	17	58,974,604 (GRCm38)	missense	probably damaging	0.97
R9043:Pdzph1	UTSW	17	58,973,540 (GRCm38)	missense	probably benign	0.05
R9083:Pdzph1	UTSW	17	58,954,400 (GRCm38)	missense	possibly damaging	0.94
R9092:Pdzph1	UTSW	17	58,973,130 (GRCm38)	missense	probably damaging	1.00
R9682:Pdzph1	UTSW	17	58,950,267 (GRCm38)	missense	probably damaging	1.00
R9757:Pdzph1	UTSW	17	58,974,903 (GRCm38)	nonsense	probably null
R9774:Pdzph1	UTSW	17	58,974,756 (GRCm38)	missense	probably benign	0.00
X0028:Pdzph1	UTSW	17	58,879,121 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATGCCAGGCTGTGAAGCAGACTC -3'
(R):5'- AATGGTTACACTCCTCCGGCCATC -3'

Sequencing Primer
(F):5'- GCAGACTCACAGGGTTCATC -3'
(R):5'- CTCAACTAGAGGAAGTCTTACCAGTG -3'

Posted On

2014-03-17