Mutagenetix > Incidental Mutation

Incidental Mutation 'R0645:Pdzd7'

57108

Institutional Source

Beutler Lab

Gene Symbol

Pdzd7

Ensembl Gene

ENSMUSG00000074818

Gene Name

PDZ domain containing 7

Synonyms

Pdzk7, EG435601

MMRRC Submission

038830-MU

Accession Numbers

Genbank: NM_001195265

Essential gene?

Possibly non essential (E-score: 0.261) question?

Stock #

R0645 (G1)

Quality Score

192

Status

Validated

Chromosome

Chromosomal Location

45026906-45046614 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 45045475 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 57 (G57R)

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

possibly damaging
Transcript: ENSMUST00000145391
AA Change: G57R

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119002
Gene: ENSMUSG00000074818
AA Change: G57R

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: G57R

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000133273
Gene: ENSMUSG00000074818
AA Change: G57R

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

0.0874

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

99% (94/95)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	C	T	2: 111,214,583		probably null	Het
Adam18	G	T	8: 24,672,120	Y46*	probably null	Het
Adam26b	A	C	8: 43,520,487	C493G	probably damaging	Het
Ak5	A	T	3: 152,653,615	L182Q	probably damaging	Het
Akt1s1	T	C	7: 44,849,221		probably benign	Het
Amhr2	G	T	15: 102,446,428	G133C	probably damaging	Het
Btbd9	A	T	17: 30,524,967	L187Q	probably damaging	Het
Ccdc117	A	T	11: 5,534,385		probably benign	Het
Ccdc138	A	T	10: 58,575,720	I637F	probably damaging	Het
Ccdc162	A	G	10: 41,586,411		probably benign	Het
Cdc25b	C	A	2: 131,191,613	H157Q	probably benign	Het
Cdon	A	G	9: 35,477,083		probably null	Het
Cdt1	G	A	8: 122,572,145		probably benign	Het
Cep350	C	T	1: 155,940,712		probably null	Het
Cfb	T	C	17: 34,860,016	K831R	probably benign	Het
Cldn4	C	A	5: 134,946,791		probably benign	Het
Cntnap5b	T	C	1: 100,072,042		probably benign	Het
Cyp27b1	T	G	10: 127,049,098	S77A	probably benign	Het
Dlc1	T	C	8: 36,574,049	D1342G	possibly damaging	Het
Dlgap4	A	G	2: 156,761,879	H887R	probably damaging	Het
Duox2	A	G	2: 122,292,658	I503T	probably damaging	Het
Elmsan1	G	T	12: 84,158,303	N834K	possibly damaging	Het
Eml4	T	C	17: 83,463,493		probably benign	Het
Ermap	A	G	4: 119,185,691	S212P	probably benign	Het
Esrrg	T	A	1: 188,043,341	C22S	probably benign	Het
Evx2	T	A	2: 74,657,894	Y194F	possibly damaging	Het
Fam126a	C	T	5: 23,979,508	G242D	probably damaging	Het
Fbn2	T	G	18: 58,058,389	D1554A	probably damaging	Het
Flrt1	G	A	19: 7,097,143		probably benign	Het
Fndc5	A	G	4: 129,139,837		probably benign	Het
Frem1	A	T	4: 82,989,166	I837N	probably damaging	Het
Fzd10	G	T	5: 128,602,598	A461S	possibly damaging	Het
Ganab	T	A	19: 8,911,113	Y511N	probably damaging	Het
Gbp7	A	G	3: 142,538,165		probably null	Het
Gm10639	T	C	9: 78,299,021	I75T	possibly damaging	Het
Gm5919	T	A	9: 83,883,383	C91S	unknown	Het
Gm597	T	A	1: 28,776,930	N674Y	probably damaging	Het
Gpr31b	A	T	17: 13,052,206	C25*	probably null	Het
Grb10	A	G	11: 11,936,755	S505P	probably damaging	Het
Grm4	A	T	17: 27,435,209	V542E	probably damaging	Het
Hivep3	G	A	4: 120,097,334	R949H	possibly damaging	Het
Invs	A	T	4: 48,407,653	M543L	probably benign	Het
Kcnk2	T	C	1: 189,256,730		probably null	Het
Kdm6b	A	T	11: 69,405,018	S808T	unknown	Het
Klhl30	C	T	1: 91,355,506	R277W	probably damaging	Het
Lama1	A	G	17: 67,773,712	Q1245R	probably benign	Het
Lingo3	G	T	10: 80,835,335	H254N	probably benign	Het
Lzts1	A	T	8: 69,135,740	H521Q	possibly damaging	Het
Map3k19	A	C	1: 127,822,182	I1144S	possibly damaging	Het
Mast2	A	G	4: 116,307,987	S1411P	probably damaging	Het
Mast2	T	C	4: 116,312,846		probably benign	Het
Mesp1	G	T	7: 79,792,580	S225R	possibly damaging	Het
Micu1	A	G	10: 59,839,681	T366A	possibly damaging	Het
Mknk2	T	C	10: 80,671,908		probably null	Het
Msh5	A	G	17: 35,039,223	L309P	probably damaging	Het
Myo7b	T	C	18: 31,994,909	I577V	probably benign	Het
Myom2	T	A	8: 15,117,698	D1094E	probably damaging	Het
Nedd1	T	C	10: 92,691,831		probably null	Het
Neu4	T	C	1: 94,022,469	L50S	probably damaging	Het
Noa1	T	C	5: 77,309,875	Y61C	probably benign	Het
Nr1h4	A	T	10: 89,506,528	M30K	probably benign	Het
Nsd3	A	G	8: 25,709,069	I1219V	probably benign	Het
Nup188	T	A	2: 30,343,466		probably null	Het
Olfr1039	A	G	2: 86,131,034	S210P	probably damaging	Het
Olfr1123	T	A	2: 87,418,268	Y71*	probably null	Het
Olfr420	A	T	1: 174,159,354	T194S	probably benign	Het
Olfr784	T	A	10: 129,388,293	I220N	possibly damaging	Het
Pbk	G	A	14: 65,813,796		probably benign	Het
Pcnx2	G	A	8: 125,760,720	T1848M	possibly damaging	Het
Pik3r4	C	A	9: 105,669,187		probably benign	Het
Plce1	A	G	19: 38,777,989	S2153G	probably damaging	Het
Pphln1	G	A	15: 93,420,311	V34M	possibly damaging	Het
Prrc2a	T	C	17: 35,156,332	D1114G	probably damaging	Het
Prss16	T	C	13: 22,009,376		probably benign	Het
Rtp3	T	C	9: 110,987,100	K128E	probably damaging	Het
Scn3a	T	A	2: 65,524,850	I241F	possibly damaging	Het
Setd1a	G	A	7: 127,787,210	V336I	probably damaging	Het
Sfpq	A	G	4: 127,022,969	I320V	possibly damaging	Het
Skint5	A	T	4: 113,763,482	D678E	unknown	Het
Slc12a9	G	A	5: 137,315,376	P774S	probably benign	Het
Slc25a54	C	G	3: 109,112,165	L362V	possibly damaging	Het
Smarcd1	A	G	15: 99,707,386		probably null	Het
Suco	A	T	1: 161,834,114	M916K	probably damaging	Het
Tiam2	T	C	17: 3,514,698	S1404P	possibly damaging	Het
Topors	T	C	4: 40,260,333	T984A	unknown	Het
Trabd2b	A	T	4: 114,586,570	K308M	probably damaging	Het
Trmo	A	T	4: 46,377,083		probably benign	Het
Trpc3	A	T	3: 36,671,505	D107E	probably benign	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Uggt2	A	C	14: 119,057,598	Y539D	probably benign	Het
Wwc2	T	G	8: 47,900,639		probably benign	Het
Zdbf2	T	A	1: 63,304,950	D829E	possibly 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
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
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'- TCCCACATTCTGAAGCCTGGACAC -3'
(R):5'- TGCCCTAGTCTCACTACTATGGCAC -3'

Sequencing Primer
(F):5'- CACGTATAAGGGCTTTCCTTAGAC -3'
(R):5'- ACGTGGTTTCACGGTAGGC -3'

Posted On

2013-07-11