Mutagenetix > Incidental Mutations

Incidental Mutation 'R5133:Pdzd7'

395996

Institutional Source

Beutler Lab

Gene Symbol

Pdzd7

Ensembl Gene

ENSMUSG00000074818

Gene Name

PDZ domain containing 7

Synonyms

Pdzk7, EG435601

MMRRC Submission

042721-MU

Accession Numbers

Genbank: NM_001195265

Is this an essential gene?

Possibly non essential (E-score: 0.297) question?

Stock #

R5133 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45026906-45046614 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45028429 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 886 (I886L)

Ref Sequence

ENSEMBL: ENSMUSP00000133273 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039016] [ENSMUST00000145391] [ENSMUST00000169459] [ENSMUST00000178087] [ENSMUST00000179108]

AlphaFold

E9Q9W7

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000038901

Predicted Effect

probably benign
Transcript: ENSMUST00000039016

SMART Domains

Protein: ENSMUSP00000045478
Gene: ENSMUSG00000035342

Domain	Start	End	E-Value	Type
low complexity region	99	105	N/A	INTRINSIC
low complexity region	187	199	N/A	INTRINSIC
low complexity region	242	265	N/A	INTRINSIC
low complexity region	267	321	N/A	INTRINSIC
low complexity region	375	407	N/A	INTRINSIC
low complexity region	412	423	N/A	INTRINSIC
Pfam:Fez1	441	639	4.2e-82	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000145391
AA Change: I886L

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000119002
Gene: ENSMUSG00000074818
AA Change: I886L

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

possibly damaging
Transcript: ENSMUST00000169459
AA Change: I886L

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000133273
Gene: ENSMUSG00000074818
AA Change: I886L

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: ENSMUST00000178087

SMART Domains

Protein: ENSMUSP00000136405
Gene: ENSMUSG00000035342

Domain	Start	End	E-Value	Type
low complexity region	99	105	N/A	INTRINSIC
low complexity region	187	199	N/A	INTRINSIC
low complexity region	242	265	N/A	INTRINSIC
low complexity region	267	321	N/A	INTRINSIC
low complexity region	375	407	N/A	INTRINSIC
low complexity region	412	423	N/A	INTRINSIC
Pfam:Fez1	441	638	2.2e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179108

SMART Domains

Protein: ENSMUSP00000137571
Gene: ENSMUSG00000035342

Domain	Start	End	E-Value	Type
low complexity region	99	105	N/A	INTRINSIC
low complexity region	187	199	N/A	INTRINSIC
low complexity region	242	265	N/A	INTRINSIC
low complexity region	267	321	N/A	INTRINSIC
low complexity region	375	407	N/A	INTRINSIC
low complexity region	412	423	N/A	INTRINSIC
Pfam:Fez1	441	639	4.2e-82	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	C	T	18: 57,563,969	T65I	possibly damaging	Het
A3galt2	A	T	4: 128,762,141	T101S	probably damaging	Het
Abraxas2	C	T	7: 132,883,146	A306V	probably benign	Het
Acvr1c	T	A	2: 58,283,506	N248I	probably damaging	Het
Adgrv1	C	T	13: 81,439,441	R4537Q	probably damaging	Het
Adrb3	A	C	8: 27,227,770	M217R	probably damaging	Het
Afg3l1	T	C	8: 123,489,793	V257A	probably benign	Het
Agbl1	C	A	7: 76,422,156	Q334K	probably benign	Het
Aox4	A	T	1: 58,236,676	D389V	probably benign	Het
Apob	A	T	12: 8,008,898	Q2427L	probably damaging	Het
Asxl3	T	C	18: 22,516,708	C585R	probably damaging	Het
Baz2a	G	A	10: 128,116,126	G571D	probably damaging	Het
Baz2b	A	T	2: 59,962,024	S587T	probably benign	Het
Bicdl2	T	C	17: 23,661,821	L14P	unknown	Het
Cachd1	G	A	4: 100,994,738	S1177N	probably damaging	Het
Cacna2d3	A	G	14: 29,293,178	F86L	possibly damaging	Het
Cd3d	A	T	9: 44,984,998	E28D	probably damaging	Het
Cmya5	T	C	13: 93,093,372	K1736R	possibly damaging	Het
Col12a1	A	G	9: 79,605,174	V2913A	probably damaging	Het
Cops8	A	G	1: 90,611,002	D51G	probably damaging	Het
Csgalnact1	T	C	8: 68,460,971	E194G	probably benign	Het
Csn1s1	A	G	5: 87,680,878	D267G	possibly damaging	Het
Cyp2c40	T	C	19: 39,807,219	N172S	probably benign	Het
Dhtkd1	T	A	2: 5,904,002	K760N	probably damaging	Het
Dnah17	T	C	11: 118,117,113	K691E	probably benign	Het
Dppa4	G	A	16: 48,292,971	R189Q	probably benign	Het
Dsp	G	A	13: 38,197,702	D2808N	possibly damaging	Het
Egr2	A	G	10: 67,539,775	E17G	probably damaging	Het
Ehmt1	G	T	2: 24,877,497	P135T	probably damaging	Het
Epas1	A	G	17: 86,809,454	N184S	probably damaging	Het
Ezh2	C	T	6: 47,540,750	C584Y	probably damaging	Het
F10	T	C	8: 13,055,698	V421A	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fam186a	T	G	15: 99,955,493	D122A	unknown	Het
Fam227b	G	A	2: 126,116,123	P241S	probably damaging	Het
Fam234b	T	C	6: 135,209,195	V67A	probably benign	Het
Fbn2	T	C	18: 58,039,340	D2131G	probably damaging	Het
Fgfr4	T	C	13: 55,160,015	Y271H	probably damaging	Het
Gm960	T	A	19: 4,658,421	S194C	probably damaging	Het
Gnmt	A	T	17: 46,725,934	S250T	probably benign	Het
Golgb1	C	A	16: 36,891,457	Q208K	possibly damaging	Het
Grn	C	A	11: 102,430,554		probably benign	Het
Grwd1	T	C	7: 45,825,874	T415A	probably benign	Het
Gsk3b	G	A	16: 38,240,520	R418H	probably damaging	Het
Hap1	T	G	11: 100,351,531	M382L	probably benign	Het
Hspa12b	A	G	2: 131,139,508	E221G	possibly damaging	Het
Hspa4l	T	A	3: 40,786,747	D709E	possibly damaging	Het
Il17ra	A	G	6: 120,481,553	E555G	possibly damaging	Het
Il27ra	T	C	8: 84,034,059	T426A	possibly damaging	Het
Jup	T	C	11: 100,383,115	D200G	probably benign	Het
Kcnq1	T	C	7: 143,194,346		probably null	Het
Kctd9	C	T	14: 67,729,356	T106I	probably damaging	Het
Kmt5b	T	A	19: 3,802,240	H159Q	probably damaging	Het
Kprp	C	T	3: 92,824,522	R407Q	unknown	Het
Kras	T	C	6: 145,232,153	Q131R	probably benign	Het
Krt16	T	A	11: 100,247,631	R230S	probably damaging	Het
Lpar6	G	A	14: 73,238,707	C36Y	probably damaging	Het
Lrp10	T	C	14: 54,469,610	S635P	probably benign	Het
Mapre2	C	A	18: 23,858,133	H153N	possibly damaging	Het
Mark3	C	A	12: 111,655,328	R703S	probably damaging	Het
Mboat2	A	G	12: 24,959,066	D457G	probably benign	Het
Med13	T	C	11: 86,319,849	D489G	probably benign	Het
Msh2	C	A	17: 87,723,413	A906E	probably benign	Het
Mtus1	T	C	8: 41,083,192	T496A	probably benign	Het
Mum1	T	C	10: 80,232,868	L282P	probably benign	Het
Nckap5	T	C	1: 126,033,960	H204R	probably benign	Het
Nlrc4	G	T	17: 74,446,717	P224T	possibly damaging	Het
Olfr1221	A	T	2: 89,111,796		probably null	Het
Olfr1434	T	C	19: 12,283,306	L86P	possibly damaging	Het
Olfr1480	T	A	19: 13,530,078	M135K	probably damaging	Het
Olfr60	A	T	7: 140,345,323	I222N	probably damaging	Het
Oprl1	T	A	2: 181,718,610	I153N	probably damaging	Het
Otud4	G	A	8: 79,655,689	V176I	probably damaging	Het
Pcdhb5	T	C	18: 37,320,890	F108L	probably benign	Het
Pde8b	T	C	13: 95,086,742	I335V	probably benign	Het
Prune2	C	T	19: 17,003,631	P51S	probably damaging	Het
Ptpre	C	T	7: 135,669,132	H346Y	probably benign	Het
Rab27b	T	C	18: 69,989,588	D100G	probably damaging	Het
Rpf1	A	G	3: 146,506,538	L349S	probably damaging	Het
Samd14	T	C	11: 95,021,583	S233P	probably damaging	Het
Sema6a	C	A	18: 47,300,128	V79F	probably damaging	Het
Setbp1	A	G	18: 78,857,482	I990T	probably damaging	Het
Setx	A	G	2: 29,180,081	R2633G	probably benign	Het
Siae	T	G	9: 37,646,520	I541S	possibly damaging	Het
Slc13a1	A	G	6: 24,103,429	S372P	possibly damaging	Het
Smarcc2	T	C	10: 128,461,473		probably null	Het
Snrpf	T	C	10: 93,588,123	S2G	probably benign	Het
Speer2	C	A	16: 69,858,820	K39N	probably null	Het
Spink5	T	G	18: 43,986,423	F267C	probably damaging	Het
Tgfbrap1	G	T	1: 43,075,506	R145S	probably damaging	Het
Tmem161b	C	A	13: 84,294,768	T269K	possibly damaging	Het
Tmem64	T	C	4: 15,281,119	I304T	probably damaging	Het
Tomm7	A	G	5: 23,844,006	I23T	probably benign	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ttr	C	T	18: 20,670,110	A111V	possibly damaging	Het
Usp47	T	A	7: 112,083,882	Y561N	probably damaging	Het
Vmn1r17	A	G	6: 57,360,843	V130A	probably benign	Het
Wdr45b	A	G	11: 121,328,795	I309T	probably benign	Het
Wnt6	T	C	1: 74,784,596	L364P	probably damaging	Het
Zc3h13	T	C	14: 75,336,009	L1530P	probably damaging	Het
Zfp933	A	G	4: 147,826,864	W60R	probably benign	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
R3874:Pdzd7	UTSW	19	45045628	missense	probably benign
R4416:Pdzd7	UTSW	19	45040580	missense	probably damaging	1.00
R4668:Pdzd7	UTSW	19	45045687	start gained	probably benign
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'- TGCATGAGGGGACACATTCTTC -3'
(R):5'- TTGAGACTTGAGACAGAAGCC -3'

Sequencing Primer
(F):5'- AGGGGACACATTCTTCTCTAGGAC -3'
(R):5'- CTTGAGACAGAAGCCAGAGATG -3'

Posted On

2016-06-21