Mutagenetix > Incidental Mutation

Incidental Mutation 'R9718:Pdzk1'

730589

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R9718 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

96736772-96778242 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96763174 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 201 (T201A)

Ref Sequence

ENSEMBL: ENSMUSP00000058936 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000058936
Gene: ENSMUSG00000038298
AA Change: T201A

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: T201A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000102684
Gene: ENSMUSG00000038298
AA Change: T201A

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: T201A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000102685
Gene: ENSMUSG00000038298
AA Change: T201A

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: ENSMUST00000135031

SMART Domains

Protein: ENSMUSP00000114157
Gene: ENSMUSG00000038298

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

Predicted Effect

probably benign
Transcript: ENSMUST00000138014

SMART Domains

Protein: ENSMUSP00000115584
Gene: ENSMUSG00000038298

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: T201A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000118846
Gene: ENSMUSG00000038298
AA Change: T201A

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	A	C	2: 32,465,247 (GRCm39)		probably benign	Het
Acvr1c	A	T	2: 58,206,007 (GRCm39)	D34E	probably benign	Het
Arhgef19	T	C	4: 140,976,603 (GRCm39)	V455A	probably damaging	Het
Cbfa2t3	T	A	8: 123,364,936 (GRCm39)	D282V	probably benign	Het
Ccl9	T	A	11: 83,466,238 (GRCm39)	N114I	probably benign	Het
Cdan1	G	T	2: 120,554,650 (GRCm39)	A875E	probably damaging	Het
Celf2	A	T	2: 6,726,349 (GRCm39)	F61L	probably damaging	Het
Chd9	T	C	8: 91,712,801 (GRCm39)	Y875H	unknown	Het
Ckap5	A	T	2: 91,379,177 (GRCm39)	K39M	probably benign	Het
Clcn3	T	C	8: 61,390,434 (GRCm39)	H169R	possibly damaging	Het
Csmd3	C	A	15: 47,560,083 (GRCm39)	V1416F		Het
Cyp4v3	A	T	8: 45,773,703 (GRCm39)	H155Q	probably damaging	Het
Dhx36	A	G	3: 62,379,466 (GRCm39)	F874S	possibly damaging	Het
Dnah14	A	T	1: 181,450,544 (GRCm39)	Q719L	probably benign	Het
Evi2	C	T	11: 79,406,583 (GRCm39)	V331M	probably damaging	Het
Fcgrt	T	G	7: 44,744,853 (GRCm39)	E205A	possibly damaging	Het
Fkrp	G	T	7: 16,545,112 (GRCm39)	T250N	probably benign	Het
Ftdc1	A	G	16: 58,434,974 (GRCm39)	L117S	probably benign	Het
Galc	G	A	12: 98,225,573 (GRCm39)	P6S		Het
Gm5134	A	T	10: 75,828,331 (GRCm39)	M304L	possibly damaging	Het
Haao	T	C	17: 84,142,215 (GRCm39)	E208G	probably damaging	Het
Hook1	T	A	4: 95,904,678 (GRCm39)	H553Q	probably benign	Het
Igdcc3	A	G	9: 65,090,280 (GRCm39)		probably null	Het
Ighv10-3	C	T	12: 114,487,254 (GRCm39)	V56I	probably benign	Het
Ighv1-62-1	G	T	12: 115,350,705 (GRCm39)	A15E	probably benign	Het
Krtap24-1	T	C	16: 88,408,378 (GRCm39)	*249W	probably null	Het
Ktn1	T	G	14: 47,910,508 (GRCm39)	I318R	probably damaging	Het
L3mbtl2	A	G	15: 81,572,123 (GRCm39)	T710A	unknown	Het
Ldha	A	T	7: 46,504,456 (GRCm39)	Q326L	possibly damaging	Het
Map4	G	A	9: 109,901,774 (GRCm39)		probably null	Het
Mdfic	T	A	6: 15,770,514 (GRCm39)	H173Q	probably damaging	Het
Noxred1	T	A	12: 87,271,692 (GRCm39)	Q159L	possibly damaging	Het
Omd	T	C	13: 49,743,336 (GRCm39)	S129P	probably damaging	Het
Or14j3	C	T	17: 37,900,914 (GRCm39)	G110D	probably benign	Het
Or52r1c	T	C	7: 102,735,196 (GRCm39)	V152A	probably benign	Het
Parp16	A	G	9: 65,141,009 (GRCm39)	Y193C	probably damaging	Het
Phldb2	T	A	16: 45,601,756 (GRCm39)	H728L	possibly damaging	Het
Prrt1b	A	T	2: 29,637,548 (GRCm39)	L42Q	probably damaging	Het
Ptchd4	C	T	17: 42,813,641 (GRCm39)	T514I	probably damaging	Het
Pusl1	T	C	4: 155,976,094 (GRCm39)	D24G	probably benign	Het
Rai1	G	A	11: 60,080,165 (GRCm39)	A1410T	probably benign	Het
Rint1	T	A	5: 24,005,721 (GRCm39)	H134Q	possibly damaging	Het
Rnf170	A	G	8: 26,619,243 (GRCm39)	S156G	unknown	Het
Rtf1	A	G	2: 119,535,986 (GRCm39)	D180G	possibly damaging	Het
Sectm1a	G	T	11: 120,960,490 (GRCm39)	D108E	probably damaging	Het
Senp7	T	A	16: 55,944,277 (GRCm39)	D200E	probably damaging	Het
Sfswap	A	G	5: 129,616,848 (GRCm39)	S431G	probably benign	Het
Sh3bp4	T	A	1: 89,073,472 (GRCm39)	D773E	probably damaging	Het
Shprh	T	C	10: 11,089,248 (GRCm39)	L1662P	probably damaging	Het
Slx4	G	T	16: 3,804,328 (GRCm39)	P829T	possibly damaging	Het
Snapc4	A	T	2: 26,268,533 (GRCm39)	S43T	probably damaging	Het
Ssh3	C	T	19: 4,312,437 (GRCm39)	R636Q	probably benign	Het
Strn4	G	A	7: 16,572,496 (GRCm39)	V679M	probably damaging	Het
Tas2r121	T	G	6: 132,677,765 (GRCm39)	Y69S	probably benign	Het
Tcerg1	C	T	18: 42,663,836 (GRCm39)	T341M	unknown	Het
Tjp2	A	C	19: 24,078,207 (GRCm39)	S895R	probably damaging	Het
Tmem220	G	T	11: 66,916,086 (GRCm39)	A28S	probably damaging	Het
Trdv1	G	A	14: 54,119,663 (GRCm39)	C109Y	probably damaging	Het
Trpc6	A	G	9: 8,634,190 (GRCm39)	Y423C	probably damaging	Het
Ttn	T	C	2: 76,625,027 (GRCm39)	M15184V	possibly damaging	Het
Ugt2b37	T	A	5: 87,390,802 (GRCm39)	Y355F	probably benign	Het
Vnn3	C	T	10: 23,745,454 (GRCm39)	R468*	probably null	Het
Washc5	T	A	15: 59,217,192 (GRCm39)	T792S	probably benign	Het
Wdfy4	T	C	14: 32,847,893 (GRCm39)	M820V		Het
Zfp961	T	A	8: 72,721,933 (GRCm39)	C149S	possibly damaging	Het
Zmat4	G	A	8: 24,238,507 (GRCm39)	V30M	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
R4831:Pdzk1	UTSW	3	96,775,751 (GRCm39)	missense	probably benign
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
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'- AGGCTCCCACTTGAGTTCAG -3'
(R):5'- TTGGTGAGCCAGAGACTAGG -3'

Sequencing Primer
(F):5'- CACTTGAGTTCAGTTACCTTTTGTG -3'
(R):5'- AGGGACTCACCTGCCCTAGTG -3'

Posted On

2022-10-06