Mutagenetix > Incidental Mutation

Incidental Mutation 'R9682:Pdzph1'

728655

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: 0.098) question?

Stock #

R9682 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58878808-58991375 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 58950267 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 925 (K925N)

Ref Sequence

ENSEMBL: ENSMUSP00000025064 (fasta)

Gene Model

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

AlphaFold

Q8BGR1

Predicted Effect

probably damaging
Transcript: ENSMUST00000025064
AA Change: K925N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: K925N

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: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	T	5: 8,702,507	M493L	probably benign	Het
Abcb5	T	A	12: 118,932,593	I334F	probably damaging	Het
Acad9	C	T	3: 36,082,119	A351V	possibly damaging	Het
Adgrg6	A	T	10: 14,440,384	N536K	possibly damaging	Het
Alk	A	T	17: 71,875,063	L1322M	possibly damaging	Het
Atp2b1	T	C	10: 98,979,800	V102A	possibly damaging	Het
Atp8b3	T	C	10: 80,535,396	N48S	probably damaging	Het
B3gnt4	A	T	5: 123,511,453	I294L	probably benign	Het
Bnip3	A	G	7: 138,894,716	S88P	probably damaging	Het
Ccr2	A	G	9: 124,106,139	Y152C	probably damaging	Het
Cd28	T	C	1: 60,765,346	L161P	probably damaging	Het
Clcn4	C	T	7: 7,296,798	V11M	probably benign	Het
Clec4g	T	A	8: 3,707,713	S79C	unknown	Het
Cux1	A	T	5: 136,308,262	S799T	probably benign	Het
Cyp2t4	A	T	7: 27,158,186	H408L	probably damaging	Het
Cyp3a41a	A	T	5: 145,715,516	W58R	possibly damaging	Het
Dicer1	A	G	12: 104,706,225	V921A	probably damaging	Het
Dpysl3	A	G	18: 43,358,248	L268P	probably damaging	Het
Dus3l	G	A	17: 56,769,770	V626I	probably benign	Het
Epb41	C	A	4: 131,928,509	D337Y		Het
Fer1l6	A	G	15: 58,550,264	T104A	probably benign	Het
Fgd4	T	C	16: 16,484,338	T118A	probably benign	Het
Gabra4	T	A	5: 71,641,072	Y188F	possibly damaging	Het
Gm14025	T	C	2: 129,033,609	S1246G	unknown	Het
Gm28168	A	T	1: 117,948,094	H151L	probably damaging	Het
Gm7995	A	G	14: 42,311,438	I91V		Het
Heg1	A	G	16: 33,720,928	E485G	probably benign	Het
Hirip3	A	G	7: 126,862,849	D73G	probably benign	Het
Igdcc3	A	G	9: 65,184,050	D684G	probably benign	Het
Kif15	A	G	9: 122,986,647	E502G	probably damaging	Het
Lrrc31	C	T	3: 30,689,274	V181I	probably damaging	Het
Lrrc7	G	T	3: 158,177,317	S446R	possibly damaging	Het
Lyst	A	G	13: 13,656,941	E1650G	probably benign	Het
Map3k6	A	G	4: 133,248,108	Y718C	possibly damaging	Het
Mta1	T	C	12: 113,131,764		probably null	Het
Muc16	C	T	9: 18,642,578	G4140R	unknown	Het
Nfe2l1	A	C	11: 96,820,118	I428M	probably benign	Het
Nup210l	T	A	3: 90,144,162	Y538N	possibly damaging	Het
Nxpe4	G	A	9: 48,392,948	V112M	probably benign	Het
Olfr1	C	T	11: 73,395,199	M274I	probably benign	Het
Olfr1217	T	A	2: 89,023,952	Q17L	possibly damaging	Het
Olfr1286	T	A	2: 111,420,392	K186N	probably benign	Het
Olfr653	G	T	7: 104,580,227	A194S	probably damaging	Het
Olfr938	G	A	9: 39,078,578	H56Y	possibly damaging	Het
Palm	A	G	10: 79,819,205	T266A	possibly damaging	Het
Pfkfb3	G	T	2: 11,486,247	Q179K	probably benign	Het
Phtf1	A	G	3: 103,993,898	Q421R	possibly damaging	Het
Pip5k1b	A	T	19: 24,378,954	S207T	probably damaging	Het
Pkd2	T	C	5: 104,478,924	V324A	probably damaging	Het
Plcxd1	A	T	5: 110,103,611	N351I	probably damaging	Het
Prr14l	G	A	5: 32,830,679	P491S	probably benign	Het
Rxfp2	A	T	5: 150,043,099	R101*	probably null	Het
Saxo2	T	G	7: 82,643,673	K72T	probably benign	Het
Sema3b	T	A	9: 107,603,814	D108V	probably damaging	Het
Sh3gl2	A	G	4: 85,377,511	D150G	probably damaging	Het
Slc6a12	G	A	6: 121,363,745	M544I	probably benign	Het
Spag6l	T	C	16: 16,829,117		probably null	Het
Stat3	A	G	11: 100,894,767	F512L	probably benign	Het
Stk39	A	G	2: 68,366,105	S327P	probably damaging	Het
Tjp3	C	T	10: 81,273,811	E853K	probably benign	Het
Tmem30c	A	T	16: 57,290,817	S31T	probably benign	Het
Tpte	A	T	8: 22,351,477	D495V	probably damaging	Het
Ugt2b5	A	T	5: 87,139,663	M215K	probably damaging	Het
Vsig2	T	C	9: 37,540,475	L135S	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
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
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'- GTTTATCCGAGGAGTGTATTCATAC -3'
(R):5'- TTAAGCCTGACATGGAATCAAACAG -3'

Sequencing Primer
(F):5'- ATATGGTCATGGTCTGAGAACTTCTC -3'
(R):5'- CAGTAAACATGCTACTTGTACCATAC -3'

Posted On

2022-10-06