Mutagenetix > Incidental Mutation

Incidental Mutation 'R9282:Pdzd7'

703720

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?

Possibly non essential (E-score: 0.267) question?

Stock #

R9282 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45026906-45046614 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45040183 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 174 (F174L)

Ref Sequence

ENSEMBL: ENSMUSP00000119002 (fasta)

Gene Model

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

AlphaFold

E9Q9W7

Predicted Effect

probably damaging
Transcript: ENSMUST00000145391
AA Change: F174L

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119002
Gene: ENSMUSG00000074818
AA Change: F174L

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: F174L

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000133273
Gene: ENSMUSG00000074818
AA Change: F174L

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: 100.0%
3x: 99.9%
10x: 99.7%
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 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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	G	A	16: 56,620,504	V701M	unknown	Het
Adam2	G	A	14: 66,029,789	P674S	probably benign	Het
Adam24	T	A	8: 40,680,635	Y381N	probably damaging	Het
Adgrv1	A	G	13: 81,103,372	S6209P	probably damaging	Het
Aox4	A	T	1: 58,245,869	K593N	possibly damaging	Het
Aqp3	A	G	4: 41,093,640	V258A	possibly damaging	Het
Atg16l1	T	A	1: 87,780,184	F390I	possibly damaging	Het
B4galt6	T	A	18: 20,692,452	Y239F	possibly damaging	Het
Cmtr2	T	C	8: 110,222,345	M429T	probably benign	Het
Col5a2	C	G	1: 45,438,869		probably null	Het
Dcc	T	C	18: 71,682,178	D375G	possibly damaging	Het
Dnah14	T	C	1: 181,814,512	Y31H		Het
Fam131a	G	A	16: 20,701,493	R232H	possibly damaging	Het
Fam186a	A	G	15: 99,941,998	Y2122H	probably damaging	Het
Focad	A	T	4: 88,196,822	I421F	unknown	Het
Fscb	T	G	12: 64,473,323	E456D	possibly damaging	Het
Furin	C	A	7: 80,391,098	S664I	probably benign	Het
Ganc	A	G	2: 120,459,900	E906G	probably benign	Het
Gdf5	C	G	2: 155,941,995	D346H	probably damaging	Het
Golga4	T	C	9: 118,556,825	L1005P	probably damaging	Het
Ifit1bl1	T	C	19: 34,594,508	N183S	probably benign	Het
Itpr1	T	A	6: 108,394,023	F1084I	probably damaging	Het
Katnal1	A	T	5: 148,894,211	Y184*	probably null	Het
Lrrc37a	A	G	11: 103,500,807	I1264T	probably benign	Het
Map3k2	T	A	18: 32,209,752	M234K	probably damaging	Het
Mcm3ap	T	A	10: 76,506,518	V1615E	probably damaging	Het
Mkrn2	A	G	6: 115,614,573		probably null	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nradd	T	A	9: 110,621,683	Q142L	possibly damaging	Het
Olfr689	T	C	7: 105,314,574	I190T	probably benign	Het
Ophn1	G	A	X: 98,578,539	T668M	probably benign	Het
Pi4k2b	C	T	5: 52,743,537	T99I	probably benign	Het
Pigv	A	T	4: 133,664,662	V399D	probably damaging	Het
Pla2g4a	C	A	1: 149,871,456	L326F	probably damaging	Het
Psmg1	T	C	16: 95,989,517	I73M	probably damaging	Het
Rcl1	T	C	19: 29,115,770	S62P	probably damaging	Het
Slc23a4	T	A	6: 34,978,926	I58F	probably damaging	Het
Slc36a2	G	T	11: 55,170,011	T191K	probably benign	Het
Sorbs2	T	G	8: 45,795,737	V675G	probably benign	Het
Tbc1d30	T	C	10: 121,306,223		probably null	Het
Tbc1d4	A	G	14: 101,608,180	V94A	possibly damaging	Het
Tdrd5	T	C	1: 156,277,460	Y532C	probably benign	Het
Tll2	T	A	19: 41,086,333	I931L	probably benign	Het
Tlr3	T	C	8: 45,398,606	N418S	probably benign	Het
Tmco1	C	T	1: 167,308,563		probably benign	Het
Tshr	T	A	12: 91,507,744	M164K	possibly damaging	Het
Ttc21b	A	G	2: 66,226,005	V679A	possibly damaging	Het
Ttn	A	G	2: 76,900,517	Y4951H	unknown	Het
Usf1	T	A	1: 171,415,805	V50D	possibly damaging	Het
Utp6	A	T	11: 79,936,025	M575K	probably benign	Het
Vmn1r197	A	T	13: 22,328,438	R176S	possibly damaging	Het
Vmn2r104	A	T	17: 20,040,836	F442I	probably damaging	Het
Vmn2r94	A	G	17: 18,277,489	F7S	possibly damaging	Het
Vps41	G	T	13: 18,829,231	E340*	probably null	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
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
R9417:Pdzd7	UTSW	19	45045583	missense	probably damaging	1.00
R9453:Pdzd7	UTSW	19	45027617	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- TAAGCAGCCGCAACATACTG -3'
(R):5'- ATCCCACTTCGAGGATTCAC -3'

Sequencing Primer
(F):5'- GCAACATACTGCGCCCG -3'
(R):5'- GAGGATTCACCCTTCCCTGC -3'

Posted On

2022-03-25