Mutagenetix > Incidental Mutation

Incidental Mutation 'R1817:Pdzd7'

204552

Institutional Source

Beutler Lab

Gene Symbol

Pdzd7

Ensembl Gene

ENSMUSG00000074818

Gene Name

PDZ domain containing 7

Synonyms

EG435601, Pdzk7

MMRRC Submission

039845-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.258) question?

Stock #

R1817 (G1)

Quality Score

219

Status

Validated

Chromosome

Chromosomal Location

45015345-45034156 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45024615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 468 (M468K)

Ref Sequence

ENSEMBL: ENSMUSP00000133273 (fasta)

Gene Model

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

AlphaFold

E9Q9W7

Predicted Effect

probably damaging
Transcript: ENSMUST00000145391
AA Change: M468K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119002
Gene: ENSMUSG00000074818
AA Change: M468K

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: M468K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133273
Gene: ENSMUSG00000074818
AA Change: M468K

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

0.0896

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 91.9%

Validation Efficiency

95% (90/95)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,110,144 (GRCm39)	S600T	probably benign	Het
Acly	T	A	11: 100,386,717 (GRCm39)	Q615L	probably benign	Het
Adgrf1	C	A	17: 43,620,924 (GRCm39)	T387K	probably benign	Het
Afg3l1	G	T	8: 124,228,670 (GRCm39)	K745N	probably damaging	Het
Armc8	T	C	9: 99,418,312 (GRCm39)	T39A	possibly damaging	Het
Atm	C	A	9: 53,403,533 (GRCm39)		probably benign	Het
Babam2	A	G	5: 32,214,890 (GRCm39)	T324A	probably damaging	Het
Btd	C	A	14: 31,384,246 (GRCm39)	D77E	possibly damaging	Het
Cadm1	T	A	9: 47,740,668 (GRCm39)		probably benign	Het
Card11	A	T	5: 140,871,315 (GRCm39)	D729E	probably benign	Het
Ccni	G	T	5: 93,335,967 (GRCm39)	T144K	possibly damaging	Het
Ceacam23	C	T	7: 17,607,255 (GRCm39)		noncoding transcript	Het
Cecr2	A	G	6: 120,708,228 (GRCm39)	T77A	probably damaging	Het
Cgas	A	G	9: 78,341,593 (GRCm39)		probably null	Het
Cpsf7	T	C	19: 10,512,803 (GRCm39)	F296L	possibly damaging	Het
Cyfip1	C	A	7: 55,523,196 (GRCm39)	N70K	possibly damaging	Het
Cyp4a12b	A	G	4: 115,271,259 (GRCm39)		probably benign	Het
Ddx20	A	T	3: 105,585,896 (GRCm39)	Y816*	probably null	Het
Ddx59	A	G	1: 136,360,245 (GRCm39)	I420V	probably damaging	Het
Dgat1	T	A	15: 76,386,703 (GRCm39)	M445L	probably damaging	Het
Dnah5	T	A	15: 28,246,546 (GRCm39)	L628*	probably null	Het
Dnah7a	A	C	1: 53,598,307 (GRCm39)	D1409E	probably benign	Het
Dnmt1	T	C	9: 20,838,422 (GRCm39)	T215A	probably benign	Het
Dsg4	C	T	18: 20,604,302 (GRCm39)	T923M	probably damaging	Het
Enox1	A	G	14: 77,852,915 (GRCm39)	I394V	possibly damaging	Het
Esrp2	A	T	8: 106,861,250 (GRCm39)	M183K	probably damaging	Het
Fam171a1	C	T	2: 3,179,410 (GRCm39)	P79S	probably benign	Het
Fga	A	G	3: 82,939,082 (GRCm39)	T486A	probably benign	Het
Fkbp10	G	T	11: 100,306,715 (GRCm39)	A36S	probably benign	Het
Fnip1	A	G	11: 54,393,279 (GRCm39)	T572A	probably benign	Het
Fxn	A	C	19: 24,257,765 (GRCm39)		probably null	Het
Gaa	C	T	11: 119,175,324 (GRCm39)	Q901*	probably null	Het
Gabrg1	A	G	5: 70,911,594 (GRCm39)	M344T	probably benign	Het
Galnt7	C	T	8: 57,991,212 (GRCm39)	V433M	probably damaging	Het
Gin1	A	G	1: 97,712,951 (GRCm39)		probably null	Het
Hydin	A	C	8: 111,259,459 (GRCm39)	D2477A	probably benign	Het
Igsf6	T	C	7: 120,670,031 (GRCm39)	Y37C	probably damaging	Het
Il18rap	A	G	1: 40,570,687 (GRCm39)	I210V	probably benign	Het
Kif3a	T	C	11: 53,489,561 (GRCm39)	Y138H	probably damaging	Het
Klra17	A	G	6: 129,845,681 (GRCm39)		probably null	Het
Lcorl	A	T	5: 45,952,688 (GRCm39)	I55N	probably damaging	Het
Lrrc49	A	G	9: 60,510,059 (GRCm39)	S398P	possibly damaging	Het
Ltv1	A	G	10: 13,055,018 (GRCm39)	L384S	probably damaging	Het
Mageb3	A	T	2: 121,784,918 (GRCm39)	Y261*	probably null	Het
Mical3	T	G	6: 121,019,196 (GRCm39)	T9P	probably benign	Het
Myrip	C	T	9: 120,217,228 (GRCm39)	S49L	probably damaging	Het
Nrap	T	C	19: 56,372,487 (GRCm39)		probably benign	Het
Or2m12	T	C	16: 19,104,627 (GRCm39)	N289D	probably damaging	Het
Or4k5	A	G	14: 50,385,728 (GRCm39)	V201A	probably benign	Het
Otoa	A	T	7: 120,759,753 (GRCm39)		probably benign	Het
Pals2	T	G	6: 50,140,411 (GRCm39)	F144V	probably benign	Het
Parp11	T	A	6: 127,467,008 (GRCm39)	I133N	probably damaging	Het
Pcnx1	A	G	12: 81,965,416 (GRCm39)	T528A	probably benign	Het
Pde4c	A	G	8: 71,179,638 (GRCm39)	H63R	probably benign	Het
Pdpk1	T	C	17: 24,329,878 (GRCm39)	K53E	probably damaging	Het
Perm1	C	A	4: 156,303,061 (GRCm39)	P535Q	possibly damaging	Het
Pgap1	C	A	1: 54,575,128 (GRCm39)	A265S	probably benign	Het
Pik3c2a	A	T	7: 115,975,747 (GRCm39)		probably null	Het
Plxnd1	T	C	6: 115,957,562 (GRCm39)	T491A	possibly damaging	Het
Pms1	A	T	1: 53,246,128 (GRCm39)	D470E	probably benign	Het
Prf1	C	A	10: 61,138,762 (GRCm39)	T240N	probably damaging	Het
Prune2	A	G	19: 17,099,445 (GRCm39)	T1650A	probably benign	Het
Ptprf	A	G	4: 118,080,462 (GRCm39)	L1264P	probably benign	Het
Ptprs	A	G	17: 56,726,527 (GRCm39)	S948P	probably damaging	Het
Rapgef1	T	C	2: 29,576,268 (GRCm39)	V117A	probably damaging	Het
Rnf123	A	G	9: 107,940,125 (GRCm39)	V756A	probably benign	Het
Sez6l2	A	G	7: 126,566,291 (GRCm39)	E741G	probably damaging	Het
Shc3	A	T	13: 51,626,888 (GRCm39)	I125K	possibly damaging	Het
Smr3a	A	T	5: 88,155,917 (GRCm39)		probably benign	Het
Spef2	C	T	15: 9,584,194 (GRCm39)	E1624K	probably damaging	Het
St6gal1	A	T	16: 23,140,083 (GRCm39)	K85*	probably null	Het
Taf1b	T	G	12: 24,597,121 (GRCm39)	D353E	possibly damaging	Het
Tcp10b	C	T	17: 13,286,590 (GRCm39)	P180S	possibly damaging	Het
Tlr9	A	T	9: 106,102,142 (GRCm39)	M478L	probably benign	Het
Tpr	A	T	1: 150,295,654 (GRCm39)	E892D	probably damaging	Het
Trio	C	T	15: 27,742,581 (GRCm39)	W22*	probably null	Het
Usp14	A	G	18: 10,024,673 (GRCm39)	V8A	probably damaging	Het
Vmn2r19	A	T	6: 123,307,011 (GRCm39)	K506N	possibly damaging	Het
Vmn2r45	T	A	7: 8,475,372 (GRCm39)	N552I	probably damaging	Het
Vmn2r56	A	T	7: 12,449,542 (GRCm39)	M232K	probably benign	Het
Vps13b	T	A	15: 35,910,788 (GRCm39)	F3517L	possibly damaging	Het
Yif1a	C	T	19: 5,142,333 (GRCm39)	R247*	probably null	Het
Zbtb5	A	G	4: 44,993,767 (GRCm39)	V539A	probably benign	Het
Zfp180	G	A	7: 23,804,652 (GRCm39)	R357Q	probably damaging	Het
Zfp536	A	G	7: 37,268,042 (GRCm39)	L458P	probably damaging	Het
Zfp646	G	A	7: 127,482,292 (GRCm39)	G1490S	probably benign	Het
Zfp970	C	T	2: 177,167,976 (GRCm39)	H517Y	probably damaging	Het
Zranb3	A	T	1: 127,945,293 (GRCm39)		probably null	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
R0731:Pdzd7	UTSW	19	45,017,744 (GRCm39)	missense	probably damaging	1.00
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
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'- GGCAGGGTGGAATTTCAACC -3'
(R):5'- CCTGGAACTGTGTGGTAGAGAG -3'

Sequencing Primer
(F):5'- GTGGAATTTCAACCTGGACCTGC -3'
(R):5'- GAATAGCGGCAGACCCCTACTG -3'

Posted On

2014-06-23