Mutagenetix > Incidental Mutations

Incidental Mutation 'R5070:Pdzk1'

388624

Institutional Source

Beutler Lab

Gene Symbol

Pdzk1

Ensembl Gene

ENSMUSG00000038298

Gene Name

PDZ domain containing 1

Synonyms

mPDZK1, 1700023D20Rik, D3Ertd537e, 4921513F16Rik, 2610507N21Rik

MMRRC Submission

042660-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R5070 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

96829284-96870926 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 96850321 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 31 (D31V)

Ref Sequence

ENSEMBL: ENSMUSP00000118846 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058865] [ENSMUST00000107069] [ENSMUST00000107070] [ENSMUST00000128789] [ENSMUST00000135031] [ENSMUST00000138014] [ENSMUST00000153256]

Predicted Effect

probably benign
Transcript: ENSMUST00000058865
AA Change: D31V

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000058936
Gene: ENSMUSG00000038298
AA Change: D31V

Domain	Start	End	E-Value	Type
PDZ	18	90	2.41e-17	SMART
PDZ	143	215	1e-14	SMART
PDZ	251	323	2.81e-18	SMART
PDZ	386	458	4.5e-17	SMART
low complexity region	505	514	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107069
AA Change: D31V

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000102684
Gene: ENSMUSG00000038298
AA Change: D31V

Domain	Start	End	E-Value	Type
PDZ	18	90	2.41e-17	SMART
PDZ	143	215	1e-14	SMART
PDZ	251	323	2.81e-18	SMART
PDZ	386	458	4.5e-17	SMART
low complexity region	505	514	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107070
AA Change: D31V

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000102685
Gene: ENSMUSG00000038298
AA Change: D31V

Domain	Start	End	E-Value	Type
PDZ	18	90	2.41e-17	SMART
PDZ	143	215	1e-14	SMART
PDZ	251	323	2.81e-18	SMART
PDZ	386	458	4.5e-17	SMART
low complexity region	505	514	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128789
AA Change: D31V

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000123166
Gene: ENSMUSG00000038298
AA Change: D31V

Domain	Start	End	E-Value	Type
PDB:2EDZ\|A	1	50	3e-32	PDB
SCOP:d1qaua_	6	50	4e-12	SMART
Blast:PDZ	18	50	7e-17	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000135031
AA Change: D31V

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000114157
Gene: ENSMUSG00000038298
AA Change: D31V

Domain	Start	End	E-Value	Type
PDZ	18	90	2.41e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138014
AA Change: D31V

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000115584
Gene: ENSMUSG00000038298
AA Change: D31V

Domain	Start	End	E-Value	Type
PDZ	18	90	2.41e-17	SMART
PDB:2EEI\|A	125	153	2e-7	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000153256
AA Change: D31V

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000118846
Gene: ENSMUSG00000038298
AA Change: D31V

Domain	Start	End	E-Value	Type
PDZ	18	90	2.41e-17	SMART
PDZ	143	215	1e-14	SMART
PDZ	251	323	2.81e-18	SMART
PDZ	386	458	4.5e-17	SMART
low complexity region	505	514	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a PDZ domain-containing scaffolding protein. PDZ domain-containing molecules bind to and mediate the subcellular localization of target proteins. The encoded protein mediates the localization of cell surface proteins and plays a critical role in cholesterol metabolism by regulating the HDL receptor, scavenger receptor class B type 1. Single nucleotide polymorphisms in this gene may be associated with metabolic syndrome, and overexpression of this gene may play a role in drug resistance of multiple myeloma. Pseudogenes of this gene are located on the long arm of chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Homozygous mutation of this gene results in increased serum cholesterol levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810041L15Rik	G	T	15: 84,420,163	A14E	possibly damaging	Het
3425401B19Rik	A	G	14: 32,661,792	S739P	possibly damaging	Het
Acacb	T	C	5: 114,246,028	I2206T	possibly damaging	Het
Actn2	A	G	13: 12,288,522	I464T	possibly damaging	Het
AI987944	C	T	7: 41,375,324	G77D	probably benign	Het
Ankar	T	C	1: 72,680,210		probably null	Het
Armc9	A	T	1: 86,257,237	H670L	probably benign	Het
Arvcf	A	G	16: 18,398,986	Y412C	probably damaging	Het
Baiap3	A	T	17: 25,249,108	C283S	probably damaging	Het
Bend3	A	T	10: 43,493,685	E11D	probably damaging	Het
Birc6	C	T	17: 74,565,972	R409C	probably damaging	Het
Cds2	T	A	2: 132,302,088	Y4*	probably null	Het
Celsr1	G	T	15: 85,939,134	P1691Q	possibly damaging	Het
Chmp1a	A	T	8: 123,206,315	V133E	probably benign	Het
Cnbd2	T	C	2: 156,335,398	V92A	probably damaging	Het
Comp	G	A	8: 70,376,495	G272S	probably benign	Het
Csnk1a1	T	A	18: 61,555,781	F11I	probably benign	Het
Ctse	A	G	1: 131,668,179	D203G	probably damaging	Het
Cyp1b1	T	A	17: 79,710,611	M372L	probably benign	Het
Cyp2c66	T	A	19: 39,163,470	S210T	probably benign	Het
Dnah1	G	A	14: 31,282,418	P2385S	probably benign	Het
Dsp	A	C	13: 38,197,123	T2615P	possibly damaging	Het
Eif4g3	A	G	4: 138,146,299	T682A	probably benign	Het
Enpp2	T	C	15: 54,864,054	Y513C	probably damaging	Het
Ercc6	T	C	14: 32,570,063	V1128A	probably benign	Het
Fam136b-ps	C	T	15: 31,276,716		probably benign	Het
Fbxl7	T	A	15: 26,789,554	H29L	probably benign	Het
Fbxw22	A	G	9: 109,385,115	V211A	probably benign	Het
Frk	A	T	10: 34,484,284	K94*	probably null	Het
G0s2	T	A	1: 193,272,562	E71D	probably damaging	Het
Gfpt1	A	G	6: 87,053,745		probably null	Het
Gga1	A	G	15: 78,892,017	D420G	possibly damaging	Het
Gldc	T	C	19: 30,118,598	Q671R	possibly damaging	Het
Gpc6	A	G	14: 117,186,769	T90A	probably benign	Het
Gucy2g	C	A	19: 55,229,787	V410F	probably damaging	Het
Ifnlr1	T	C	4: 135,704,198	S233P	probably benign	Het
Ighv1-9	A	T	12: 114,583,757	W55R	probably damaging	Het
Igsf10	T	A	3: 59,328,293	H1489L	probably benign	Het
Il17re	T	C	6: 113,459,010	L39P	probably damaging	Het
Kcna2	T	A	3: 107,104,637	V178D	probably damaging	Het
Kcnk3	A	G	5: 30,622,386	H260R	possibly damaging	Het
Kctd19	T	C	8: 105,391,999	Y287C	probably damaging	Het
Klhl28	A	T	12: 64,957,712	M9K	probably benign	Het
Lama2	A	G	10: 27,350,251		probably null	Het
Lrrc27	A	T	7: 139,214,799	D26V	probably damaging	Het
Mcm4	A	G	16: 15,625,570	S830P	probably damaging	Het
Mei1	T	A	15: 82,077,603	C188S	possibly damaging	Het
Mettl13	C	T	1: 162,545,899	R261H	possibly damaging	Het
Mex3a	A	T	3: 88,536,387	I257F	probably damaging	Het
Mib1	A	G	18: 10,793,002	E646G	probably damaging	Het
Mier2	T	C	10: 79,549,577	D139G	probably benign	Het
Mmp14	T	A	14: 54,439,113	Y372N	probably damaging	Het
Mrvi1	A	G	7: 110,925,312	S208P	probably benign	Het
Myh14	A	G	7: 44,616,248	V1569A	possibly damaging	Het
Myo18b	T	C	5: 112,761,346	E1977G	probably damaging	Het
Myo3b	T	C	2: 70,253,112	L675P	probably damaging	Het
N4bp1	A	G	8: 86,860,537	V591A	probably damaging	Het
Nedd9	C	A	13: 41,316,598	V360L	probably benign	Het
Oit3	C	T	10: 59,424,027	R518H	probably damaging	Het
Olfr1122	T	G	2: 87,388,163	C153G	probably damaging	Het
Olfr1413	T	A	1: 92,573,413	S81T	probably damaging	Het
Olfr171	A	G	16: 19,624,992	I36T	possibly damaging	Het
Olfr342	T	A	2: 36,527,766	M118K	probably damaging	Het
Olfr531	A	G	7: 140,400,569	V159A	probably benign	Het
Olfr744	A	G	14: 50,618,474	N84S	probably benign	Het
Olfr744	T	A	14: 50,618,740	C173S	probably damaging	Het
Olfr749	C	A	14: 50,737,074	L29F	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pask	A	T	1: 93,330,874	C251S	probably damaging	Het
Pmfbp1	A	T	8: 109,530,155	Q497L	probably damaging	Het
Pofut1	T	C	2: 153,261,566		probably benign	Het
Polr2h	A	G	16: 20,721,966	N95S	probably damaging	Het
Pou2f3	A	G	9: 43,145,281	V93A	possibly damaging	Het
Ppfia1	G	A	7: 144,514,473	Q446*	probably null	Het
Prkd1	A	T	12: 50,394,622	L327*	probably null	Het
Prrt4	T	C	6: 29,177,512	E86G	probably benign	Het
Psen2	T	C	1: 180,228,857	I393V	probably benign	Het
Psma2	G	A	13: 14,616,028	V20I	probably benign	Het
Qser1	C	T	2: 104,787,282	V1062I	possibly damaging	Het
Rab11b	G	T	17: 33,748,881	A114D	probably damaging	Het
Rag1	A	T	2: 101,642,311	W829R	probably damaging	Het
Rgl3	A	G	9: 21,988,044		probably null	Het
Rgs8	C	T	1: 153,665,904	T3I	probably damaging	Het
Rnf17	T	C	14: 56,505,928	V1317A	probably damaging	Het
Rps6kb2	A	T	19: 4,163,228	D6E	probably damaging	Het
Skint5	T	A	4: 113,795,538	I630F	unknown	Het
Skint7	T	C	4: 111,984,134	L257P	probably damaging	Het
Slc11a1	G	A	1: 74,385,184	A434T	probably damaging	Het
Slc5a8	A	T	10: 88,886,598	I98F	possibly damaging	Het
Sorl1	T	C	9: 42,031,818	K921E	possibly damaging	Het
Stub1	A	G	17: 25,832,138	L90P	probably damaging	Het
Sycp1	A	T	3: 102,920,565	S289T	probably damaging	Het
Taar7b	T	G	10: 24,000,461	S175A	probably benign	Het
Tead3	T	C	17: 28,341,477	K51R	probably benign	Het
Tmed11	T	A	5: 108,795,223	I30L	probably benign	Het
Tmem131	A	G	1: 36,854,905	I139T	probably damaging	Het
Tmem191c	A	G	16: 17,277,695	Q206R	probably null	Het
Tph2	T	A	10: 115,151,174	Y237F	probably benign	Het
Trim35	C	T	14: 66,308,972		probably benign	Het
Tsc22d1	T	C	14: 76,418,310	I661T	probably benign	Het
Ttc27	T	A	17: 74,799,342	H541Q	probably damaging	Het
Uqcrq	A	G	11: 53,430,127		probably null	Het
Vmn1r215	T	A	13: 23,076,496	S235R	probably benign	Het
Vmn1r70	T	C	7: 10,634,398	V271A	probably benign	Het
Vps13a	G	A	19: 16,654,484	R2596C	probably benign	Het
Vwa7	G	A	17: 35,024,190	V615I	probably benign	Het
Wdr90	T	C	17: 25,846,333	T1650A	probably damaging	Het
Zbtb32	T	A	7: 30,591,466	M135L	probably benign	Het
Zc2hc1c	A	G	12: 85,290,514	D315G	probably benign	Het
Zfc3h1	T	A	10: 115,418,783	C1427*	probably null	Het
Zfp30	A	G	7: 29,786,266		probably benign	Het
Zfp428	T	A	7: 24,515,125	D55E	probably damaging	Het
Zfyve26	A	T	12: 79,255,361	N1820K	probably damaging	Het
Zw10	C	A	9: 49,077,459	S675*	probably null	Het

Other mutations in Pdzk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00730:Pdzk1	APN	3	96868426	missense	probably benign
IGL01895:Pdzk1	APN	3	96869101	missense	possibly damaging	0.96
IGL01995:Pdzk1	APN	3	96857371	missense	probably benign	0.01
IGL02027:Pdzk1	APN	3	96854673	splice site	probably benign
R1762:Pdzk1	UTSW	3	96851573	missense	probably benign	0.01
R2044:Pdzk1	UTSW	3	96855848	splice site	probably benign
R4721:Pdzk1	UTSW	3	96869202	nonsense	probably null
R4831:Pdzk1	UTSW	3	96868435	missense	probably benign
R6020:Pdzk1	UTSW	3	96868426	missense	probably benign
R6049:Pdzk1	UTSW	3	96851663	missense	probably benign	0.00
R6816:Pdzk1	UTSW	3	96854570	missense	probably benign	0.13
R7065:Pdzk1	UTSW	3	96868432	missense	probably benign
R7134:Pdzk1	UTSW	3	96855930	missense	probably benign	0.16
R7779:Pdzk1	UTSW	3	96857273	missense	probably damaging	1.00
R8097:Pdzk1	UTSW	3	96850240	missense	probably benign	0.00
R8350:Pdzk1	UTSW	3	96851708	missense	probably benign	0.01
R8450:Pdzk1	UTSW	3	96851708	missense	probably benign	0.01
Z1088:Pdzk1	UTSW	3	96854557	missense	probably benign
Z1176:Pdzk1	UTSW	3	96854557	missense	probably benign
Z1177:Pdzk1	UTSW	3	96854557	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGGATCCCGACAAGCAGAG -3'
(R):5'- AGAAGCAAGCTCCTCTGGTC -3'

Sequencing Primer
(F):5'- CATAAGCGGTGTCTGGATGCTC -3'
(R):5'- TCTGGTCCCCAAAACCGTAACG -3'

Posted On

2016-06-06