Mutagenetix > Incidental Mutation

Incidental Mutation 'R3874:Pdzd7'

276768

Institutional Source

Beutler Lab

Gene Symbol

Pdzd7

Ensembl Gene

ENSMUSG00000074818

Gene Name

PDZ domain containing 7

Synonyms

Pdzk7, EG435601

MMRRC Submission

040792-MU

Accession Numbers

Genbank: NM_001195265

Essential gene?

Probably non essential (E-score: 0.226) question?

Stock #

R3874 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45026906-45046614 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45045628 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 6 (T6A)

Ref Sequence

ENSEMBL: ENSMUSP00000133273 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062213] [ENSMUST00000084493] [ENSMUST00000111954] [ENSMUST00000145391] [ENSMUST00000169459]

AlphaFold

E9Q9W7

Predicted Effect

probably benign
Transcript: ENSMUST00000062213

SMART Domains

Protein: ENSMUSP00000059419
Gene: ENSMUSG00000025212

Domain	Start	End	E-Value	Type
Pfam:Mtc	15	321	1.8e-154	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000084493

SMART Domains

Protein: ENSMUSP00000081537
Gene: ENSMUSG00000025212

Domain	Start	End	E-Value	Type
Pfam:Mtc	15	230	2.5e-106	PFAM
Pfam:Mtc	225	280	2.6e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111954

SMART Domains

Protein: ENSMUSP00000107585
Gene: ENSMUSG00000025212

Domain	Start	End	E-Value	Type
Pfam:Mtc	15	114	1.4e-48	PFAM
Pfam:Mtc	110	288	2.3e-78	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145391
AA Change: T6A

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

SMART Domains

Protein: ENSMUSP00000119002
Gene: ENSMUSG00000074818
AA Change: T6A

Domain	Start	End	E-Value	Type
low complexity region	12	35	N/A	INTRINSIC
PDZ	95	167	3.51e-19	SMART
PDZ	220	292	2.47e-14	SMART
low complexity region	319	344	N/A	INTRINSIC
low complexity region	442	459	N/A	INTRINSIC
low complexity region	521	533	N/A	INTRINSIC
low complexity region	724	744	N/A	INTRINSIC
low complexity region	768	809	N/A	INTRINSIC
low complexity region	812	824	N/A	INTRINSIC
PDZ	866	947	1.96e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169459
AA Change: T6A

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

SMART Domains

Protein: ENSMUSP00000133273
Gene: ENSMUSG00000074818
AA Change: T6A

Domain	Start	End	E-Value	Type
low complexity region	12	35	N/A	INTRINSIC
PDZ	95	167	3.51e-19	SMART
PDZ	220	292	2.47e-14	SMART
low complexity region	319	344	N/A	INTRINSIC
low complexity region	442	459	N/A	INTRINSIC
low complexity region	521	533	N/A	INTRINSIC
low complexity region	724	744	N/A	INTRINSIC
low complexity region	768	809	N/A	INTRINSIC
low complexity region	812	824	N/A	INTRINSIC
PDZ	866	947	1.96e-8	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit profound deafness due to abnormal outer cochlear hair cell morphology and function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130213A22Rik	C	A	11: 69,121,475	G26*	probably null	Het
Abca5	T	A	11: 110,310,233	Y447F	probably damaging	Het
Acox2	A	G	14: 8,248,061	I407T	probably benign	Het
Adam8	T	C	7: 139,987,607	N408D	probably damaging	Het
Adgre1	A	T	17: 57,401,925	T39S	probably benign	Het
Akap12	G	A	10: 4,357,590	V1467I	probably benign	Het
Arid1b	T	A	17: 5,336,515		probably null	Het
Atp2c2	A	G	8: 119,735,296	I303V	possibly damaging	Het
Bpifc	C	T	10: 85,991,254	V144I	probably benign	Het
C530008M17Rik	A	G	5: 76,840,892	D30G	probably damaging	Het
Camk4	A	G	18: 33,158,854	E189G	possibly damaging	Het
Casz1	A	G	4: 148,939,589		probably benign	Het
Ccdc134	T	C	15: 82,131,442	V41A	possibly damaging	Het
Chrd	A	T	16: 20,738,910	T753S	probably damaging	Het
Cyb561a3	T	C	19: 10,585,371	V125A	probably benign	Het
D630039A03Rik	T	A	4: 57,910,606	T69S	probably benign	Het
Dchs1	A	G	7: 105,761,635	F1687S	probably damaging	Het
Dlgap4	T	C	2: 156,749,347	S818P	probably benign	Het
Dnah2	A	G	11: 69,429,348	I3965T	probably damaging	Het
Dnaic2	G	T	11: 114,732,955	G15W	probably damaging	Het
Dsg1c	A	G	18: 20,277,052	I526V	probably benign	Het
Far2	G	A	6: 148,150,591	E123K	probably benign	Het
Gli1	A	T	10: 127,330,219	V1055E	probably damaging	Het
Hand2	G	T	8: 57,321,976	A24S	probably benign	Het
Helb	T	C	10: 120,106,037	I249V	probably benign	Het
Hspa4l	G	A	3: 40,772,642	V492M	probably damaging	Het
Hspg2	T	C	4: 137,539,349	I1916T	probably damaging	Het
Igfals	G	A	17: 24,881,605	V557I	possibly damaging	Het
Itpa	T	G	2: 130,681,010	S176A	probably damaging	Het
Kcnu1	T	A	8: 25,885,317	L353H	probably damaging	Het
Klhl1	A	G	14: 96,518,179	F47L	probably benign	Het
Klhl13	T	C	X: 23,285,176	D21G	probably benign	Het
Krt26	T	C	11: 99,334,744	K304E	probably damaging	Het
Krt9	C	T	11: 100,190,849	V285I	probably damaging	Het
Mansc1	T	C	6: 134,610,183	R344G	possibly damaging	Het
Mier2	G	T	10: 79,541,797	P439T	possibly damaging	Het
Mppe1	T	A	18: 67,225,886		probably null	Het
Nedd4l	G	A	18: 65,167,535	A243T	probably benign	Het
Notch4	T	A	17: 34,578,069	C934*	probably null	Het
Nsmce3	C	T	7: 64,872,168	D251N	probably damaging	Het
Olfr101	T	A	17: 37,299,979	T148S	probably benign	Het
Olfr1156	T	A	2: 87,949,530	R234S	probably damaging	Het
Olfr1310	T	C	2: 112,008,323	T288A	possibly damaging	Het
Olfr139	A	G	11: 74,044,699	C192R	probably damaging	Het
Olfr517	C	T	7: 108,869,128	V9M	probably damaging	Het
Olfr937	A	G	9: 39,060,174	I164T	probably benign	Het
Picalm	T	A	7: 90,189,219	F493Y	probably damaging	Het
Prl7d1	A	G	13: 27,716,668	M1T	probably null	Het
Prl8a1	T	C	13: 27,575,458	K199E	possibly damaging	Het
Rims1	C	T	1: 22,428,489	R764H	probably damaging	Het
Rnf17	G	T	14: 56,475,413	R779L	possibly damaging	Het
Rufy2	T	C	10: 62,998,137	L294P	probably damaging	Het
Sgsh	A	G	11: 119,350,947	L111P	probably damaging	Het
Slc22a30	G	T	19: 8,336,849	T491K	probably benign	Het
Slc35b3	T	C	13: 38,943,068	N20D	possibly damaging	Het
Slc5a4a	T	C	10: 76,181,655	F429L	probably benign	Het
Sulf1	T	C	1: 12,817,412	I270T	probably damaging	Het
Tmem51	T	C	4: 142,031,748	T230A	probably damaging	Het
Tnc	T	A	4: 64,008,710	I860F	probably damaging	Het
Trh	A	T	6: 92,243,698	V61E	possibly damaging	Het
Ttn	T	G	2: 76,754,099	T22222P	probably damaging	Het
Uroc1	A	T	6: 90,361,512	K652*	probably null	Het
Usp34	C	T	11: 23,489,033	P3532S	possibly damaging	Het
Vmn2r120	A	T	17: 57,524,954	F278L	probably benign	Het
Vmn2r7	A	G	3: 64,719,611	F86L	possibly damaging	Het
Vmn2r87	A	T	10: 130,479,987	I70K	possibly damaging	Het
Vps13a	C	T	19: 16,744,953	A332T	probably benign	Het
Zfp568	T	A	7: 30,023,396	C589S	probably damaging	Het

Other mutations in Pdzd7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02237:Pdzd7	APN	19	45040258	missense	probably damaging	1.00
IGL02729:Pdzd7	APN	19	45045643	start codon destroyed	probably null	0.89
F6893:Pdzd7	UTSW	19	45036734	missense	probably damaging	0.98
R0211:Pdzd7	UTSW	19	45033667	missense	possibly damaging	0.72
R0211:Pdzd7	UTSW	19	45033667	missense	possibly damaging	0.72
R0295:Pdzd7	UTSW	19	45037072	missense	probably benign	0.01
R0523:Pdzd7	UTSW	19	45036090	missense	probably benign	0.01
R0645:Pdzd7	UTSW	19	45045475	missense	possibly damaging	0.95
R0731:Pdzd7	UTSW	19	45029305	missense	probably damaging	1.00
R1265:Pdzd7	UTSW	19	45040685	missense	possibly damaging	0.64
R1711:Pdzd7	UTSW	19	45045511	missense	possibly damaging	0.68
R1789:Pdzd7	UTSW	19	45039228	missense	probably damaging	1.00
R1817:Pdzd7	UTSW	19	45036176	missense	probably damaging	0.98
R2162:Pdzd7	UTSW	19	45036055	critical splice donor site	probably null
R2851:Pdzd7	UTSW	19	45027674	missense	probably benign
R2852:Pdzd7	UTSW	19	45027674	missense	probably benign
R2939:Pdzd7	UTSW	19	45045423	missense	possibly damaging	0.89
R3832:Pdzd7	UTSW	19	45040254	missense	probably damaging	1.00
R4416:Pdzd7	UTSW	19	45040580	missense	probably damaging	1.00
R4668:Pdzd7	UTSW	19	45045687	start gained	probably benign
R5133:Pdzd7	UTSW	19	45028429	missense	possibly damaging	0.51
R5327:Pdzd7	UTSW	19	45028777	missense	probably benign
R5458:Pdzd7	UTSW	19	45027791	missense	probably benign
R5480:Pdzd7	UTSW	19	45039285	missense	possibly damaging	0.65
R5644:Pdzd7	UTSW	19	45040180	missense	probably benign	0.16
R5799:Pdzd7	UTSW	19	45036989	missense	probably benign	0.06
R5812:Pdzd7	UTSW	19	45036871	missense	probably damaging	1.00
R5873:Pdzd7	UTSW	19	45027949	missense	probably damaging	1.00
R6669:Pdzd7	UTSW	19	45036751	missense	possibly damaging	0.94
R6750:Pdzd7	UTSW	19	45027748	missense	probably benign
R7128:Pdzd7	UTSW	19	45027949	missense	probably damaging	0.99
R7183:Pdzd7	UTSW	19	45037114	missense	probably benign
R7378:Pdzd7	UTSW	19	45045606	missense	probably damaging	0.99
R7395:Pdzd7	UTSW	19	45037011	missense	probably damaging	1.00
R7426:Pdzd7	UTSW	19	45033647	missense	possibly damaging	0.68
R7790:Pdzd7	UTSW	19	45045523	nonsense	probably null
R7792:Pdzd7	UTSW	19	45040218	missense	possibly damaging	0.54
R7829:Pdzd7	UTSW	19	45039239	missense	probably benign	0.00
R7883:Pdzd7	UTSW	19	45030240	missense	probably damaging	1.00
R7969:Pdzd7	UTSW	19	45036225	missense	probably benign	0.01
R8387:Pdzd7	UTSW	19	45030051	missense	probably damaging	1.00
R8720:Pdzd7	UTSW	19	45036228	missense	probably benign	0.27
R8830:Pdzd7	UTSW	19	45033073	missense	probably damaging	1.00
R9282:Pdzd7	UTSW	19	45040183	missense	probably damaging	0.96
R9417:Pdzd7	UTSW	19	45045583	missense	probably damaging	1.00
R9453:Pdzd7	UTSW	19	45027617	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- AGTTGATGAGGATGACCCGG -3'
(R):5'- AGATCCCTCTCTTCCAAGTGG -3'

Sequencing Primer
(F):5'- AGGATGACCCGGCCCATG -3'
(R):5'- ACTTTCCAGAACAGGGTGGC -3'

Posted On

2015-04-06