Mutagenetix > Incidental Mutation

Incidental Mutation 'R7426:Pdzd7'

576139

Institutional Source

Beutler Lab

Gene Symbol

Pdzd7

Ensembl Gene

ENSMUSG00000074818

Gene Name

PDZ domain containing 7

Synonyms

Pdzk7, EG435601

MMRRC Submission

Accession Numbers

Genbank: NM_001195265

Essential gene?

Probably non essential (E-score: 0.217) question?

Stock #

R7426 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45026906-45046614 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45033647 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 521 (R521G)

Ref Sequence

ENSEMBL: ENSMUSP00000119002 (fasta)

Gene Model

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

AlphaFold

E9Q9W7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000145391
AA Change: R521G

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000119002
Gene: ENSMUSG00000074818
AA Change: R521G

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: R521G

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000133273
Gene: ENSMUSG00000074818
AA Change: R521G

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

Meta Mutation Damage Score

0.0748

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (114/118)

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	C	A	7: 120,345,998	N432K	possibly damaging	Het
Adamtsl5	G	A	10: 80,344,859	T123I	probably benign	Het
Aff4	T	C	11: 53,372,875	S241P	probably damaging	Het
Agl	A	G	3: 116,758,755	L510P		Het
Aox2	A	T	1: 58,289,983	K196*	probably null	Het
Arhgef37	A	G	18: 61,504,385	L402P	probably damaging	Het
Arid4b	T	C	13: 14,181,306		probably null	Het
Atp5f1	A	G	3: 105,943,802	V193A	probably benign	Het
Atp8b3	A	G	10: 80,529,629		probably null	Het
Baz2a	G	T	10: 128,116,078	R555L	probably damaging	Het
Casp4	G	T	9: 5,321,345	S32I	possibly damaging	Het
Cd300lb	A	G	11: 114,928,302	V167A	probably damaging	Het
Cdc42bpg	C	T	19: 6,318,398	T1042I	probably damaging	Het
Ceacam20	T	C	7: 19,970,234	F70S	probably damaging	Het
Cep162	C	T	9: 87,192,766	V1388I	probably damaging	Het
Cfap65	A	G	1: 74,920,426	V855A	possibly damaging	Het
Chil3	G	T	3: 106,155,706	D189E	probably benign	Het
Cln3	A	G	7: 126,581,740	I43T	probably benign	Het
Cntnap5a	A	G	1: 116,442,380	Q909R	probably benign	Het
Ctsd	C	A	7: 142,383,541	A77S	probably damaging	Het
Dnah12	T	A	14: 26,724,626	S781T	probably benign	Het
Dnah17	T	A	11: 118,090,717	Q1716L	probably null	Het
Dock3	C	A	9: 106,895,583	M490I	probably benign	Het
Erg	T	C	16: 95,459,156		probably null	Het
Fam206a	A	G	4: 56,804,230	I82V	probably null	Het
Farp2	A	T	1: 93,621,228	M1019L	possibly damaging	Het
Fcgbp	A	G	7: 28,086,524	K462R	probably benign	Het
Fn1	A	T	1: 71,649,225	N173K	probably damaging	Het
Fsip2	A	T	2: 82,980,097	L2253F	probably damaging	Het
Gabrd	C	T	4: 155,385,513	R413H	possibly damaging	Het
Galnt5	A	T	2: 58,017,139	D538V	probably damaging	Het
Gje1	T	A	10: 14,716,479	L186F	probably damaging	Het
Gm16686	A	T	4: 88,755,326	C89S	unknown	Het
Gna15	G	T	10: 81,502,997	A336E	probably benign	Het
Golga4	C	T	9: 118,559,495	S1895L	probably benign	Het
Gon4l	A	T	3: 88,907,522	M1933L	probably benign	Het
Gpr183	T	C	14: 121,954,744	S122G	possibly damaging	Het
Gtf2h4	G	A	17: 35,669,358	T348I	probably damaging	Het
Hace1	T	C	10: 45,605,540	Y120H	probably damaging	Het
Hivep2	C	T	10: 14,131,317	H1220Y	possibly damaging	Het
Hmx2	T	C	7: 131,554,503	F66S	probably benign	Het
Hoxd12	A	T	2: 74,675,225	S47C	possibly damaging	Het
Hp	C	A	8: 109,575,200		probably null	Het
Idh3a	T	A	9: 54,601,208	D355E	probably benign	Het
Itga2b	A	T	11: 102,456,294	M921K	probably benign	Het
Jcad	A	G	18: 4,675,529	D1097G	probably benign	Het
Kdm5b	A	T	1: 134,595,833	T249S	probably benign	Het
Klhl11	G	T	11: 100,464,352	H214Q	probably benign	Het
L3hypdh	A	T	12: 72,084,931	Y76N	probably damaging	Het
Lama4	G	T	10: 39,045,755	R424L	possibly damaging	Het
Lepr	A	G	4: 101,745,656	I214V	probably benign	Het
Lipc	G	T	9: 70,802,168	N432K	probably benign	Het
Lipm	C	T	19: 34,116,198	A216V	possibly damaging	Het
Lrrc23	A	G	6: 124,779,125	S2P	unknown	Het
Lyst	T	A	13: 13,637,524	D840E	probably benign	Het
Mmp23	T	A	4: 155,651,584	T204S	probably damaging	Het
Mms19	T	C	19: 41,948,278	T785A	probably benign	Het
Mov10	A	T	3: 104,800,052		probably null	Het
Mtf2	A	G	5: 108,100,970	T383A	probably benign	Het
Myo5c	G	A	9: 75,251,527		probably null	Het
Nfxl1	A	T	5: 72,524,174	C671*	probably null	Het
Npepps	A	G	11: 97,213,156	V813A	probably benign	Het
Nrn1	C	A	13: 36,726,851	W69L	probably damaging	Het
Olfr231	A	C	1: 174,117,187	F276L	probably benign	Het
Olfr543	A	T	7: 102,477,676	Y65N	probably damaging	Het
Olfr656	C	T	7: 104,617,852	H58Y	probably damaging	Het
Olfr663	T	A	7: 104,703,589	D7E	probably benign	Het
Olfr694	T	A	7: 106,689,210	I174F	possibly damaging	Het
Olfr771	A	G	10: 129,160,751	Y78H	possibly damaging	Het
Olfr799	T	C	10: 129,647,158	I10T	probably damaging	Het
Oprd1	A	C	4: 132,114,067	D193E	probably benign	Het
Pcdhac1	G	T	18: 37,092,497	V788L	probably benign	Het
Pcdhb11	G	A	18: 37,423,260	V548M	probably damaging	Het
Pde4c	A	T	8: 70,748,972	E517V	possibly damaging	Het
Pik3c2a	T	A	7: 116,372,854	K780N	probably damaging	Het
Plb1	T	G	5: 32,321,247		probably null	Het
Plcb4	T	A	2: 136,000,219	L1041Q	probably benign	Het
Pnpla6	G	A	8: 3,516,540		probably null	Het
Ppat	A	T	5: 76,915,979	N441K	probably damaging	Het
Ppp1r1b	G	A	11: 98,355,479	A132T	probably damaging	Het
Prl2c2	A	C	13: 12,997,480		probably null	Het
Prr14	T	C	7: 127,475,286	I330T	probably benign	Het
Pycr1	T	C	11: 120,642,923	D36G	probably benign	Het
Rabep2	T	A	7: 126,438,719	I221N	probably damaging	Het
Rad23b	A	G	4: 55,370,469	D165G	probably benign	Het
Reln	G	A	5: 21,971,953	T1905I	probably damaging	Het
Ripor2	T	C	13: 24,694,205	V321A	probably benign	Het
Rnf43	A	G	11: 87,731,852	D466G	probably benign	Het
Rpl6	A	T	5: 121,205,592	R63W	possibly damaging	Het
S100a14	A	G	3: 90,528,204	T102A	probably benign	Het
Samd11	C	A	4: 156,249,400	V195L	probably benign	Het
Scaper	G	A	9: 55,762,277	Q372*	probably null	Het
Sec14l5	G	T	16: 5,180,875	C593F	probably damaging	Het
Sema6d	T	C	2: 124,654,158	Y41H	probably damaging	Het
Serac1	G	A	17: 6,069,314	R114W	probably damaging	Het
Slc12a4	T	C	8: 105,950,836	E388G	probably benign	Het
Smarcd3	T	C	5: 24,595,812	T164A	probably benign	Het
Smtn	C	A	11: 3,530,249	R324L	probably benign	Het
Spata31d1c	C	T	13: 65,035,361	P239L	probably benign	Het
Srcap	T	C	7: 127,538,517	V1013A	possibly damaging	Het
Sv2b	T	C	7: 75,124,064	N553S	probably damaging	Het
Tex35	T	A	1: 157,105,086	N52I	probably damaging	Het
Ticrr	T	C	7: 79,693,986	S1200P	probably benign	Het
Tmem19	A	G	10: 115,347,699	L125P	probably damaging	Het
Trio	A	G	15: 27,856,107	V666A	probably benign	Het
Ttn	T	C	2: 76,917,283	D4474G	probably benign	Het
Usp43	A	T	11: 67,893,016	S368T	possibly damaging	Het
Vmn2r72	T	A	7: 85,751,140	M234L	probably benign	Het
Wdr93	T	A	7: 79,777,307		probably null	Het
Wrap73	T	A	4: 154,156,127	W359R	probably damaging	Het
Ywhah	A	G	5: 33,026,641	I63V	probably benign	Het
Zbtb7b	G	T	3: 89,381,059	P151T	probably damaging	Het
Zfp318	A	G	17: 46,400,069	N906S	probably damaging	Het
Zfp423	C	A	8: 87,780,713	C1001F	probably damaging	Het
Zmym1	A	G	4: 127,049,398	I399T	possibly damaging	Het
Zmynd15	G	A	11: 70,462,188	G296D	probably benign	Het
Znfx1	T	A	2: 167,048,555	I670F	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
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
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
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'- CCAGTTGGAGTATAGACACACTC -3'
(R):5'- ACTCCCCACTGCCTTTAAGG -3'

Sequencing Primer
(F):5'- ACCCCACATCCCTTTGGG -3'
(R):5'- AGGTCAGTCCCTAGCTGGATATGAC -3'

Posted On

2019-10-07