Mutagenetix > Incidental Mutation

Incidental Mutation 'R4700:Pdzph1'

355982

Institutional Source

Beutler Lab

Gene Symbol

Pdzph1

Ensembl Gene

ENSMUSG00000024227

Gene Name

PDZ and pleckstrin homology domains 1

Synonyms

2610034M16Rik

MMRRC Submission

041948-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R4700 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58878808-58991375 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58974546 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 247 (H247R)

Ref Sequence

ENSEMBL: ENSMUSP00000025064 (fasta)

Gene Model

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

AlphaFold

Q8BGR1

Predicted Effect

probably damaging
Transcript: ENSMUST00000025064
AA Change: H247R

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: H247R

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

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (127/131)

Allele List at MGI

Other mutations in this stock

Total: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530084C06Rik	A	G	13: 31,558,812		probably benign	Het
Abca13	A	G	11: 9,292,306	T1390A	possibly damaging	Het
Abca14	T	A	7: 120,312,705		probably null	Het
Abca8a	A	C	11: 110,070,482	V538G	probably damaging	Het
Acy1	C	T	9: 106,433,583	G329R	probably benign	Het
Adamts17	T	C	7: 67,041,888	C607R	probably damaging	Het
Adamts20	A	T	15: 94,394,622	C202*	probably null	Het
Adcy5	A	G	16: 35,279,216	N712S	possibly damaging	Het
Ahnak	A	G	19: 9,004,681	K1110E	probably benign	Het
Anks6	T	A	4: 47,033,127	H578L	possibly damaging	Het
Appl1	C	A	14: 26,925,971	L626F	probably benign	Het
Arl1	A	G	10: 88,730,637		probably benign	Het
Atf4	T	A	15: 80,257,417	I336K	probably damaging	Het
Atp7b	A	T	8: 22,000,121	S1044T	probably benign	Het
B020031M17Rik	T	C	13: 119,949,842	Y76C	probably benign	Het
Carm1	A	G	9: 21,587,184	N466S	probably benign	Het
Cbl	A	G	9: 44,173,380	S153P	probably damaging	Het
Ccdc159	A	G	9: 21,927,731		probably null	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cdc7	T	C	5: 106,973,841	F207L	probably benign	Het
Celsr2	T	C	3: 108,397,231	R2271G	probably benign	Het
Cep162	T	C	9: 87,206,862	Q989R	probably damaging	Het
Cep89	A	G	7: 35,438,437	T749A	probably benign	Het
Clcn5	T	C	X: 7,166,352		probably null	Het
Clu	A	T	14: 65,979,864	Y382F	probably benign	Het
Cnih4	A	G	1: 181,166,243		probably benign	Het
Crb1	A	G	1: 139,198,771	L1340P	probably damaging	Het
D730048I06Rik	A	T	9: 35,789,725	C22S	probably damaging	Het
Ddx4	T	C	13: 112,613,735	T421A	probably damaging	Het
Dennd5a	T	C	7: 109,921,198	E484G	probably benign	Het
Dsg4	G	T	18: 20,456,908	V372L	possibly damaging	Het
Dyrk2	T	C	10: 118,868,286	D21G	probably benign	Het
E2f1	C	G	2: 154,564,022	G144R	probably damaging	Het
Epb41l4a	A	T	18: 33,802,507		probably null	Het
F10	G	T	8: 13,039,621	V67F	possibly damaging	Het
Fat3	A	G	9: 16,031,173	I1301T	probably damaging	Het
Filip1l	A	G	16: 57,570,695	T549A	probably benign	Het
Flt4	C	A	11: 49,626,444		probably benign	Het
Fndc1	G	A	17: 7,771,480	T1128I	unknown	Het
Fos	T	C	12: 85,476,162	S283P	probably benign	Het
Fryl	T	C	5: 73,065,538	Y1900C	possibly damaging	Het
Fsip2	C	A	2: 82,987,029	Q4369K	probably benign	Het
Gad2	A	T	2: 22,673,970	H395L	probably damaging	Het
Grm2	T	A	9: 106,653,931	I120F	probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Igsf10	A	T	3: 59,320,330	I1974N	probably damaging	Het
Il23r	T	C	6: 67,473,850	N215S	probably damaging	Het
Jph1	T	A	1: 17,091,704	M245L	possibly damaging	Het
Loxl4	G	A	19: 42,607,613	H147Y	probably benign	Het
Lsg1	A	G	16: 30,565,449	I521T	probably damaging	Het
Ltc4s	C	T	11: 50,237,081	G83R	probably damaging	Het
Map2	A	G	1: 66,410,637	E173G	probably damaging	Het
Med29	T	A	7: 28,386,927	D152V	possibly damaging	Het
Megf8	A	G	7: 25,363,515	D2432G	probably damaging	Het
Mrpl38	G	A	11: 116,135,152		probably benign	Het
Myh7	A	G	14: 54,988,321	I521T	possibly damaging	Het
Mylk	G	T	16: 34,922,435	V1106L	probably benign	Het
Myo15b	A	T	11: 115,861,935	D753V	possibly damaging	Het
Myo1g	T	C	11: 6,516,785		probably null	Het
Myrfl	A	G	10: 116,777,342		probably null	Het
Naip5	A	G	13: 100,223,414	V438A	possibly damaging	Het
Nav3	A	G	10: 109,764,935	V1277A	probably benign	Het
Nek10	T	A	14: 14,842,841	V182E	possibly damaging	Het
Ngly1	T	C	14: 16,281,809	V355A	probably benign	Het
Nol6	T	C	4: 41,118,944	E683G	possibly damaging	Het
Obsl1	A	T	1: 75,503,441	V487E	probably damaging	Het
Oc90	T	A	15: 65,881,505	R322W	possibly damaging	Het
Olfr1313	A	G	2: 112,071,752	V277A	possibly damaging	Het
Olfr357	C	A	2: 36,997,503	A231D	probably benign	Het
Olfr677	A	T	7: 105,056,276	H10L	possibly damaging	Het
Olfr878	A	G	9: 37,918,921	E93G	possibly damaging	Het
Osbp2	T	C	11: 3,712,160	H231R	probably damaging	Het
Pidd1	T	C	7: 141,442,249	N209S	probably damaging	Het
Pknox1	C	T	17: 31,603,312	A351V	probably damaging	Het
Plxnd1	C	A	6: 115,958,615	V1737F	probably damaging	Het
Prkdc	A	T	16: 15,702,112	K1138M	probably damaging	Het
Rad54l2	T	C	9: 106,754,025	D21G	possibly damaging	Het
Recql4	C	T	15: 76,708,585	C302Y	probably damaging	Het
Scgb2b6	T	C	7: 31,619,483		noncoding transcript	Het
Sdc1	A	G	12: 8,790,541	E106G	possibly damaging	Het
Slc10a5	C	A	3: 10,335,299	Q100H	probably damaging	Het
Slc10a5	T	G	3: 10,335,300	Q100P	probably damaging	Het
Slc5a9	A	T	4: 111,890,937	L226Q	possibly damaging	Het
Slfn1	T	C	11: 83,121,649	V197A	probably benign	Het
Spire1	T	C	18: 67,512,865	M244V	probably benign	Het
St3gal3	C	T	4: 117,960,035	V141I	probably benign	Het
St6galnac4	G	T	2: 32,587,160		probably benign	Het
Svep1	T	C	4: 58,097,323	K1407E	possibly damaging	Het
Tbc1d32	A	G	10: 56,224,649	C78R	probably damaging	Het
Tln2	A	G	9: 67,346,527	V754A	probably benign	Het
Tmeff1	A	T	4: 48,636,869	Y189F	possibly damaging	Het
Tmem131l	C	T	3: 83,899,212	A1433T	probably benign	Het
Tnfrsf8	T	C	4: 145,303,122	Y36C	probably damaging	Het
Trp53i11	G	T	2: 93,199,900	R184L	probably damaging	Het
Trpv1	A	T	11: 73,251,284	M214L	possibly damaging	Het
Tsnax	T	A	8: 125,028,794	S132T	probably benign	Het
Ttc28	T	C	5: 111,277,043	L1547P	probably damaging	Het
Ttc3	A	G	16: 94,439,241		probably null	Het
Tubal3	T	A	13: 3,933,514	D431E	probably damaging	Het
Ugt2b36	A	T	5: 87,092,442		probably null	Het
Vmn1r23	A	T	6: 57,926,205	I196K	probably benign	Het
Vmn1r55	A	C	7: 5,146,587	L279R	probably damaging	Het
Vmn1r55	G	T	7: 5,146,588	L279M	probably damaging	Het
Vmn2r89	G	A	14: 51,457,485	G474E	probably damaging	Het
Vps26b	T	C	9: 27,015,215	K163E	probably damaging	Het
Zfp142	A	G	1: 74,570,272	F1352L	probably damaging	Het
Zfp422	C	T	6: 116,626,883	E52K	possibly damaging	Het
Zfp423	T	A	8: 87,781,710		probably null	Het
Zfp493	T	C	13: 67,786,617	F230L	probably damaging	Het
Zfp760	T	C	17: 21,722,407	C188R	probably benign	Het
Zfyve28	G	T	5: 34,217,845	T275K	probably damaging	Het
Znhit3	T	C	11: 84,916,329	N5D	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
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
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'- TTCTCTTTCTGGACAGCATTAACAC -3'
(R):5'- TCCAGCAAGTATGGAGAGGC -3'

Sequencing Primer
(F):5'- TTCTGGACAGCATTAACACTACAGGG -3'
(R):5'- TCGGGGTCACTTCTCTAAACACAG -3'

Posted On

2015-10-21