Mutagenetix > Incidental Mutation

Incidental Mutation 'R4831:Pdzk1'

372793

Institutional Source

Beutler Lab

Gene Symbol

Pdzk1

Ensembl Gene

ENSMUSG00000038298

Gene Name

PDZ domain containing 1

Synonyms

Nherf3, 4921513F16Rik, mPDZK1, 1700023D20Rik, 2610507N21Rik, D3Ertd537e

MMRRC Submission

042447-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R4831 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96736772-96778242 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 96775751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 373 (G373D)

Ref Sequence

ENSEMBL: ENSMUSP00000118846 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029738] [ENSMUST00000058865] [ENSMUST00000107069] [ENSMUST00000107070] [ENSMUST00000153256]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029738

SMART Domains

Protein: ENSMUSP00000029738
Gene: ENSMUSG00000028096

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
transmembrane domain	38	60	N/A	INTRINSIC
transmembrane domain	75	97	N/A	INTRINSIC
transmembrane domain	110	127	N/A	INTRINSIC
Pfam:GPHR_N	140	207	1.1e-31	PFAM
Pfam:ABA_GPCR	276	446	4.9e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000058865
AA Change: G373D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000058936
Gene: ENSMUSG00000038298
AA Change: G373D

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: G373D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102684
Gene: ENSMUSG00000038298
AA Change: G373D

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: G373D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102685
Gene: ENSMUSG00000038298
AA Change: G373D

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

noncoding transcript
Transcript: ENSMUST00000135533

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146645

Predicted Effect

probably benign
Transcript: ENSMUST00000153256
AA Change: G373D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000118846
Gene: ENSMUSG00000038298
AA Change: G373D

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

99% (96/97)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	C	T	11: 69,791,403 (GRCm39)	V59I	possibly damaging	Het
4930544M13Rik	T	G	13: 114,744,183 (GRCm39)		noncoding transcript	Het
Abca13	A	T	11: 9,492,077 (GRCm39)	K4373*	probably null	Het
Abtb2	A	T	2: 103,513,820 (GRCm39)	T410S	probably benign	Het
Adamts13	T	C	2: 26,873,142 (GRCm39)		probably null	Het
Ahnak2	C	G	12: 112,742,183 (GRCm39)	D630H	probably damaging	Het
Aox3	T	C	1: 58,191,725 (GRCm39)	S426P	probably damaging	Het
Atxn10	C	T	15: 85,271,260 (GRCm39)	S266F	probably benign	Het
B4galnt4	G	T	7: 140,647,634 (GRCm39)	M407I	probably damaging	Het
B4galnt4	T	A	7: 140,644,470 (GRCm39)		probably null	Het
Bclaf1	T	A	10: 20,197,872 (GRCm39)		probably benign	Het
C4b	C	T	17: 34,955,864 (GRCm39)		probably null	Het
Cdc42bpg	T	C	19: 6,361,365 (GRCm39)	F297S	probably damaging	Het
Cdh10	A	T	15: 19,013,664 (GRCm39)	T755S	probably benign	Het
Ceacam12	T	A	7: 17,811,305 (GRCm39)		probably null	Het
Cfap65	C	A	1: 74,956,454 (GRCm39)	V1042F	possibly damaging	Het
Cfap77	T	C	2: 28,875,844 (GRCm39)	I89V	probably benign	Het
Cfh	T	C	1: 140,014,125 (GRCm39)	D688G	probably benign	Het
Clip1	C	G	5: 123,721,664 (GRCm39)	A1182P	probably damaging	Het
Cyp2b10	T	A	7: 25,614,921 (GRCm39)	Y309*	probably null	Het
Dcaf5	T	C	12: 80,385,858 (GRCm39)	E756G	probably benign	Het
Dctn1	A	T	6: 83,176,753 (GRCm39)	Q1231L	possibly damaging	Het
Dennd1c	T	A	17: 57,373,428 (GRCm39)	R682*	probably null	Het
Eml6	C	A	11: 29,727,052 (GRCm39)	E1319*	probably null	Het
Erap1	T	C	13: 74,838,766 (GRCm39)	I904T	probably damaging	Het
Eri1	A	T	8: 35,943,673 (GRCm39)	I207N	possibly damaging	Het
Farp1	G	A	14: 121,514,469 (GRCm39)	A933T	probably damaging	Het
Fcna	T	A	2: 25,515,353 (GRCm39)	Q210L	probably benign	Het
Fhad1	A	T	4: 141,643,378 (GRCm39)		probably null	Het
Fut8	T	G	12: 77,440,603 (GRCm39)	Y197D	probably damaging	Het
Garem1	G	A	18: 21,262,825 (GRCm39)	T663I	probably benign	Het
Gfm2	T	C	13: 97,301,546 (GRCm39)	S450P	probably damaging	Het
Gstk1	T	G	6: 42,222,938 (GRCm39)		probably benign	Het
Helz2	C	T	2: 180,879,210 (GRCm39)	A803T	probably damaging	Het
Igsf9	T	A	1: 172,319,455 (GRCm39)	I280N	probably damaging	Het
Klhl10	A	G	11: 100,336,669 (GRCm39)	K219E	probably benign	Het
L3mbtl4	T	A	17: 68,768,558 (GRCm39)	V222D	probably damaging	Het
Lrrc9	A	T	12: 72,546,453 (GRCm39)	N1214Y	probably damaging	Het
Ltbp2	C	T	12: 84,840,414 (GRCm39)	E1051K	possibly damaging	Het
Mettl17	T	C	14: 52,122,440 (GRCm39)	F13S	probably benign	Het
Mettl24	C	A	10: 40,559,413 (GRCm39)	A21D	possibly damaging	Het
Mfsd6l	T	A	11: 68,447,331 (GRCm39)	C61S	probably benign	Het
Mob4	T	G	1: 55,191,899 (GRCm39)	D204E	probably benign	Het
Mtus1	C	G	8: 41,536,189 (GRCm39)	R509T	probably damaging	Het
Nlrp4a	T	A	7: 26,149,844 (GRCm39)	F484I	possibly damaging	Het
Nsrp1	T	C	11: 76,941,444 (GRCm39)	N88S	probably benign	Het
Odad2	G	T	18: 7,222,564 (GRCm39)	H568Q	possibly damaging	Het
Or10d5	C	T	9: 39,861,408 (GRCm39)	V220I	probably benign	Het
Or2g25	T	A	17: 37,970,969 (GRCm39)	H85L	probably benign	Het
Or51b6b	T	C	7: 103,309,678 (GRCm39)	T260A	probably benign	Het
Or6c2	T	A	10: 129,362,449 (GRCm39)	Y118N	probably damaging	Het
Parg	A	G	14: 31,924,408 (GRCm39)	N69S	probably benign	Het
Pcdh9	A	C	14: 94,125,377 (GRCm39)	N264K	probably damaging	Het
Pcdhb22	G	T	18: 37,653,615 (GRCm39)	L694F	probably damaging	Het
Pcnt	T	C	10: 76,248,335 (GRCm39)	E928G	probably damaging	Het
Pea15a	A	G	1: 172,026,740 (GRCm39)	I89T	probably damaging	Het
Phc1	T	A	6: 122,313,964 (GRCm39)		probably benign	Het
Pikfyve	T	A	1: 65,235,900 (GRCm39)	C191S	probably damaging	Het
Pitpnm1	T	A	19: 4,158,130 (GRCm39)	D573E	probably damaging	Het
Pld5	A	G	1: 176,102,450 (GRCm39)		probably benign	Het
Plscr2	A	T	9: 92,173,130 (GRCm39)	N89I	possibly damaging	Het
Pm20d2	A	C	4: 33,179,293 (GRCm39)	N315K	probably damaging	Het
Pnpla1	T	A	17: 29,097,518 (GRCm39)	M228K	probably benign	Het
Prim2	T	C	1: 33,709,217 (GRCm39)		probably benign	Het
Ralgapa2	A	G	2: 146,246,987 (GRCm39)		probably benign	Het
Rgs22	G	T	15: 36,050,294 (GRCm39)	H719N	probably benign	Het
Ror2	C	T	13: 53,272,880 (GRCm39)	D250N	probably damaging	Het
Saal1	A	G	7: 46,349,071 (GRCm39)	V281A	probably benign	Het
Selenof	A	T	3: 144,296,411 (GRCm39)	K94N	probably damaging	Het
Slamf9	T	A	1: 172,304,831 (GRCm39)	C148*	probably null	Het
Slc4a7	T	C	14: 14,772,699 (GRCm38)		probably null	Het
Slco1a5	A	G	6: 142,180,431 (GRCm39)	I657T	probably benign	Het
St3gal2	A	T	8: 111,684,480 (GRCm39)	H46L	probably benign	Het
Sucnr1	T	G	3: 59,994,069 (GRCm39)	M199R	probably damaging	Het
Taok1	T	A	11: 77,444,500 (GRCm39)	E525V	probably null	Het
Tbc1d10c	T	A	19: 4,235,445 (GRCm39)	E298V	probably damaging	Het
Tll2	T	A	19: 41,118,951 (GRCm39)	H259L	probably damaging	Het
Tpcn1	A	T	5: 120,691,554 (GRCm39)	F300Y	probably damaging	Het
Uba6	T	A	5: 86,279,197 (GRCm39)	I642L	probably benign	Het
Ubqln5	T	A	7: 103,778,829 (GRCm39)		probably benign	Het
Vmn1r27	A	T	6: 58,192,827 (GRCm39)	L9Q	possibly damaging	Het
Vmn2r100	C	T	17: 19,741,672 (GRCm39)	T128I	probably benign	Het
Vmn2r109	C	T	17: 20,761,494 (GRCm39)	G621D	probably benign	Het
Vmn2r49	C	T	7: 9,720,352 (GRCm39)	D380N	probably benign	Het
Vps13a	C	T	19: 16,655,356 (GRCm39)	V1891I	probably benign	Het
Wbp2	G	T	11: 115,971,463 (GRCm39)	Y147*	probably null	Het
Wdr46	T	A	17: 34,160,810 (GRCm39)	N191K	probably benign	Het
Wdr46	T	C	17: 34,168,373 (GRCm39)		probably benign	Het
Wnt2	A	C	6: 18,023,285 (GRCm39)	F121L	probably benign	Het
Xpnpep1	T	A	19: 53,003,053 (GRCm39)	D100V	probably benign	Het
Xpo4	T	C	14: 57,827,559 (GRCm39)	Y879C	probably damaging	Het
Zswim4	A	T	8: 84,938,948 (GRCm39)	V978D	probably damaging	Het

Other mutations in Pdzk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00730:Pdzk1	APN	3	96,775,742 (GRCm39)	missense	probably benign
IGL01895:Pdzk1	APN	3	96,776,417 (GRCm39)	missense	possibly damaging	0.96
IGL01995:Pdzk1	APN	3	96,764,687 (GRCm39)	missense	probably benign	0.01
IGL02027:Pdzk1	APN	3	96,761,989 (GRCm39)	splice site	probably benign
R1762:Pdzk1	UTSW	3	96,758,889 (GRCm39)	missense	probably benign	0.01
R2044:Pdzk1	UTSW	3	96,763,164 (GRCm39)	splice site	probably benign
R4721:Pdzk1	UTSW	3	96,776,518 (GRCm39)	nonsense	probably null
R5070:Pdzk1	UTSW	3	96,757,637 (GRCm39)	missense	probably benign	0.05
R6020:Pdzk1	UTSW	3	96,775,742 (GRCm39)	missense	probably benign
R6049:Pdzk1	UTSW	3	96,758,979 (GRCm39)	missense	probably benign	0.00
R6816:Pdzk1	UTSW	3	96,761,886 (GRCm39)	missense	probably benign	0.13
R7065:Pdzk1	UTSW	3	96,775,748 (GRCm39)	missense	probably benign
R7134:Pdzk1	UTSW	3	96,763,246 (GRCm39)	missense	probably benign	0.16
R7779:Pdzk1	UTSW	3	96,764,589 (GRCm39)	missense	probably damaging	1.00
R8097:Pdzk1	UTSW	3	96,757,556 (GRCm39)	missense	probably benign	0.00
R8350:Pdzk1	UTSW	3	96,759,024 (GRCm39)	missense	probably benign	0.01
R8450:Pdzk1	UTSW	3	96,759,024 (GRCm39)	missense	probably benign	0.01
R8805:Pdzk1	UTSW	3	96,758,910 (GRCm39)	missense	possibly damaging	0.94
R9448:Pdzk1	UTSW	3	96,761,922 (GRCm39)	missense	probably damaging	1.00
R9718:Pdzk1	UTSW	3	96,763,174 (GRCm39)	missense
Z1088:Pdzk1	UTSW	3	96,761,873 (GRCm39)	missense	probably benign
Z1176:Pdzk1	UTSW	3	96,761,873 (GRCm39)	missense	probably benign
Z1177:Pdzk1	UTSW	3	96,761,873 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCATACATGTGAGACACCC -3'
(R):5'- TCACGGAGACTTGTGGCTTG -3'

Sequencing Primer
(F):5'- GCCATGACATTCAGTGACGTG -3'
(R):5'- AGACTTGTGGCTTGCACTG -3'

Posted On

2016-03-01