Mutagenetix > Incidental Mutation

Incidental Mutation 'R0731:Pdzd7'

67601

Institutional Source

Beutler Lab

Gene Symbol

Pdzd7

Ensembl Gene

ENSMUSG00000074818

Gene Name

PDZ domain containing 7

Synonyms

EG435601, Pdzk7

MMRRC Submission

038912-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.247) question?

Stock #

R0731 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45015345-45034156 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45017744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 675 (Y675C)

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

probably damaging
Transcript: ENSMUST00000145391
AA Change: Y675C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119002
Gene: ENSMUSG00000074818
AA Change: Y675C

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 damaging
Transcript: ENSMUST00000169459
AA Change: Y675C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133273
Gene: ENSMUSG00000074818
AA Change: Y675C

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

Meta Mutation Damage Score

0.1136

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

97% (73/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	A	T	7: 119,367,247 (GRCm39)	R27*	probably null	Het
Actg1	A	G	11: 120,237,775 (GRCm39)	F255S	probably damaging	Het
Ahdc1	T	A	4: 132,790,262 (GRCm39)	V501E	possibly damaging	Het
Alpk2	A	T	18: 65,438,461 (GRCm39)	D1444E	probably damaging	Het
Btaf1	T	G	19: 36,974,895 (GRCm39)		probably null	Het
Cacnb2	A	G	2: 14,990,517 (GRCm39)	H489R	possibly damaging	Het
Ccdc162	C	A	10: 41,455,139 (GRCm39)	K398N	probably damaging	Het
Cd79b	G	T	11: 106,203,259 (GRCm39)	S145R	probably damaging	Het
Cdh11	T	A	8: 103,394,651 (GRCm39)	N264Y	probably damaging	Het
Celsr1	T	C	15: 85,785,798 (GRCm39)	D2892G	probably benign	Het
Chuk	A	G	19: 44,092,205 (GRCm39)		probably benign	Het
Clk3	T	C	9: 57,658,409 (GRCm39)		probably benign	Het
Dcaf8	A	T	1: 172,000,076 (GRCm39)	D78V	possibly damaging	Het
Dctn1	A	G	6: 83,160,071 (GRCm39)	T87A	probably damaging	Het
Ddx50	T	C	10: 62,452,028 (GRCm39)	N732D	unknown	Het
Dnah5	A	T	15: 28,311,289 (GRCm39)	Y1756F	possibly damaging	Het
Dock3	A	T	9: 106,847,055 (GRCm39)	V858E	probably damaging	Het
Fer1l4	A	G	2: 155,865,990 (GRCm39)	F1566S	probably benign	Het
Fpr-rs7	T	C	17: 20,334,116 (GRCm39)	I125V	probably benign	Het
Fuca2	C	T	10: 13,381,771 (GRCm39)	P228L	probably benign	Het
Galntl6	A	G	8: 58,989,018 (GRCm39)	F57L	probably benign	Het
Gigyf2	T	A	1: 87,335,449 (GRCm39)		probably benign	Het
Gm16505	A	T	13: 3,411,329 (GRCm39)		noncoding transcript	Het
Gm4781	T	C	10: 100,232,639 (GRCm39)		noncoding transcript	Het
Gm9956	T	A	10: 56,621,639 (GRCm39)	Y100*	probably null	Het
Gpr137c	T	A	14: 45,483,806 (GRCm39)	C178S	probably damaging	Het
Gpr83	A	G	9: 14,779,940 (GRCm39)	R331G	probably benign	Het
Hlcs	T	A	16: 93,932,711 (GRCm39)	H851L	probably damaging	Het
Irag1	T	C	7: 110,476,107 (GRCm39)	S615G	probably benign	Het
Kbtbd6	C	A	14: 79,689,324 (GRCm39)	Y6*	probably null	Het
Kif23	T	C	9: 61,832,314 (GRCm39)	R610G	possibly damaging	Het
Kifc3	G	A	8: 95,832,361 (GRCm39)	T487I	probably damaging	Het
Klra5	A	C	6: 129,885,759 (GRCm39)	D133E	possibly damaging	Het
Klra6	T	C	6: 129,999,668 (GRCm39)	E100G	probably damaging	Het
Klre1	T	A	6: 129,562,531 (GRCm39)		probably benign	Het
Lancl1	C	T	1: 67,049,069 (GRCm39)		probably null	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Man1b1	A	G	2: 25,228,167 (GRCm39)	I146V	possibly damaging	Het
Map4k5	T	A	12: 69,921,038 (GRCm39)		probably benign	Het
Mast3	A	G	8: 71,233,965 (GRCm39)	S178P	probably damaging	Het
Mau2	A	G	8: 70,476,262 (GRCm39)		probably null	Het
Mgat4f	A	C	1: 134,317,713 (GRCm39)	M162L	probably benign	Het
Mkrn2	A	T	6: 115,591,612 (GRCm39)	N312Y	probably damaging	Het
Myh1	A	G	11: 67,093,359 (GRCm39)	E150G	probably damaging	Het
Myo7b	T	A	18: 32,094,878 (GRCm39)		probably null	Het
Nyap1	A	G	5: 137,733,560 (GRCm39)	V491A	probably damaging	Het
Or10a3	A	T	7: 108,480,740 (GRCm39)	N24K	probably damaging	Het
Or4g17	A	G	2: 111,209,638 (GRCm39)	M98V	probably damaging	Het
Or5p60	T	C	7: 107,723,941 (GRCm39)	I176M	probably benign	Het
Or8g34	T	C	9: 39,372,828 (GRCm39)	F34L	probably damaging	Het
Oxsm	A	T	14: 16,240,893 (GRCm38)	H385Q	probably damaging	Het
Pbld2	T	C	10: 62,892,590 (GRCm39)	S242P	probably damaging	Het
Pnkd	T	A	1: 74,390,700 (GRCm39)	H266Q	probably damaging	Het
Rbfox2	A	G	15: 76,983,479 (GRCm39)	S141P	probably benign	Het
Rdx	A	G	9: 51,979,518 (GRCm39)	T214A	probably benign	Het
Ripor2	A	T	13: 24,864,627 (GRCm39)	E219V	probably damaging	Het
Rlig1	T	C	10: 100,422,065 (GRCm39)	T66A	probably damaging	Het
Rufy2	G	A	10: 62,847,623 (GRCm39)		probably benign	Het
Slf2	T	A	19: 44,964,165 (GRCm39)		probably benign	Het
Snrnp200	G	T	2: 127,068,065 (GRCm39)		probably benign	Het
Snx7	T	A	3: 117,623,320 (GRCm39)		probably benign	Het
Stt3a	T	C	9: 36,646,808 (GRCm39)	I602V	probably damaging	Het
Tacr3	G	A	3: 134,560,761 (GRCm39)		probably null	Het
Tcerg1	C	T	18: 42,704,905 (GRCm39)	T978M	probably damaging	Het
Tcf7l1	G	T	6: 72,765,252 (GRCm39)	P126Q	possibly damaging	Het
Trank1	A	G	9: 111,194,556 (GRCm39)	D860G	probably damaging	Het
Try4	T	C	6: 41,281,301 (GRCm39)	L81P	probably benign	Het
Ucp1	T	C	8: 84,024,476 (GRCm39)		probably benign	Het
Ugt2b38	G	A	5: 87,568,311 (GRCm39)	A328V	probably damaging	Het
Wfikkn1	T	A	17: 26,096,991 (GRCm39)	R444S	probably damaging	Het
Zfc3h1	A	G	10: 115,246,537 (GRCm39)	T875A	probably benign	Het
Zfp11	A	G	5: 129,734,328 (GRCm39)	S378P	probably damaging	Het
Zfp984	T	A	4: 147,840,689 (GRCm39)	N54I	probably damaging	Het

Other mutations in Pdzd7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02237:Pdzd7	APN	19	45,028,697 (GRCm39)	missense	probably damaging	1.00
IGL02729:Pdzd7	APN	19	45,034,082 (GRCm39)	start codon destroyed	probably null	0.89
F6893:Pdzd7	UTSW	19	45,025,173 (GRCm39)	missense	probably damaging	0.98
R0211:Pdzd7	UTSW	19	45,022,106 (GRCm39)	missense	possibly damaging	0.72
R0211:Pdzd7	UTSW	19	45,022,106 (GRCm39)	missense	possibly damaging	0.72
R0295:Pdzd7	UTSW	19	45,025,511 (GRCm39)	missense	probably benign	0.01
R0523:Pdzd7	UTSW	19	45,024,529 (GRCm39)	missense	probably benign	0.01
R0645:Pdzd7	UTSW	19	45,033,914 (GRCm39)	missense	possibly damaging	0.95
R1265:Pdzd7	UTSW	19	45,029,124 (GRCm39)	missense	possibly damaging	0.64
R1711:Pdzd7	UTSW	19	45,033,950 (GRCm39)	missense	possibly damaging	0.68
R1789:Pdzd7	UTSW	19	45,027,667 (GRCm39)	missense	probably damaging	1.00
R1817:Pdzd7	UTSW	19	45,024,615 (GRCm39)	missense	probably damaging	0.98
R2162:Pdzd7	UTSW	19	45,024,494 (GRCm39)	critical splice donor site	probably null
R2851:Pdzd7	UTSW	19	45,016,113 (GRCm39)	missense	probably benign
R2852:Pdzd7	UTSW	19	45,016,113 (GRCm39)	missense	probably benign
R2939:Pdzd7	UTSW	19	45,033,862 (GRCm39)	missense	possibly damaging	0.89
R3832:Pdzd7	UTSW	19	45,028,693 (GRCm39)	missense	probably damaging	1.00
R3874:Pdzd7	UTSW	19	45,034,067 (GRCm39)	missense	probably benign
R4416:Pdzd7	UTSW	19	45,029,019 (GRCm39)	missense	probably damaging	1.00
R4668:Pdzd7	UTSW	19	45,034,126 (GRCm39)	start gained	probably benign
R5133:Pdzd7	UTSW	19	45,016,868 (GRCm39)	missense	possibly damaging	0.51
R5327:Pdzd7	UTSW	19	45,017,216 (GRCm39)	missense	probably benign
R5458:Pdzd7	UTSW	19	45,016,230 (GRCm39)	missense	probably benign
R5480:Pdzd7	UTSW	19	45,027,724 (GRCm39)	missense	possibly damaging	0.65
R5644:Pdzd7	UTSW	19	45,028,619 (GRCm39)	missense	probably benign	0.16
R5799:Pdzd7	UTSW	19	45,025,428 (GRCm39)	missense	probably benign	0.06
R5812:Pdzd7	UTSW	19	45,025,310 (GRCm39)	missense	probably damaging	1.00
R5873:Pdzd7	UTSW	19	45,016,388 (GRCm39)	missense	probably damaging	1.00
R6669:Pdzd7	UTSW	19	45,025,190 (GRCm39)	missense	possibly damaging	0.94
R6750:Pdzd7	UTSW	19	45,016,187 (GRCm39)	missense	probably benign
R7128:Pdzd7	UTSW	19	45,016,388 (GRCm39)	missense	probably damaging	0.99
R7183:Pdzd7	UTSW	19	45,025,553 (GRCm39)	missense	probably benign
R7378:Pdzd7	UTSW	19	45,034,045 (GRCm39)	missense	probably damaging	0.99
R7395:Pdzd7	UTSW	19	45,025,450 (GRCm39)	missense	probably damaging	1.00
R7426:Pdzd7	UTSW	19	45,022,086 (GRCm39)	missense	possibly damaging	0.68
R7790:Pdzd7	UTSW	19	45,033,962 (GRCm39)	nonsense	probably null
R7792:Pdzd7	UTSW	19	45,028,657 (GRCm39)	missense	possibly damaging	0.54
R7829:Pdzd7	UTSW	19	45,027,678 (GRCm39)	missense	probably benign	0.00
R7883:Pdzd7	UTSW	19	45,018,679 (GRCm39)	missense	probably damaging	1.00
R7969:Pdzd7	UTSW	19	45,024,664 (GRCm39)	missense	probably benign	0.01
R8387:Pdzd7	UTSW	19	45,018,490 (GRCm39)	missense	probably damaging	1.00
R8720:Pdzd7	UTSW	19	45,024,667 (GRCm39)	missense	probably benign	0.27
R8830:Pdzd7	UTSW	19	45,021,512 (GRCm39)	missense	probably damaging	1.00
R9282:Pdzd7	UTSW	19	45,028,622 (GRCm39)	missense	probably damaging	0.96
R9417:Pdzd7	UTSW	19	45,034,022 (GRCm39)	missense	probably damaging	1.00
R9453:Pdzd7	UTSW	19	45,016,056 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- GTAGCGAAAAGGCATCAACTGGCAC -3'
(R):5'- CTCCAGGCCATGTTACTCACACATC -3'

Sequencing Primer
(F):5'- ATCAACTGGCACGTCTTGTAGAG -3'
(R):5'- TCTTGGCTCTGCCAAAGTAGAAC -3'

Posted On

2013-09-03