Mutagenetix > Incidental Mutation

Incidental Mutation 'R0523:Pdzd7'

48759

Institutional Source

Beutler Lab

Gene Symbol

Pdzd7

Ensembl Gene

ENSMUSG00000074818

Gene Name

PDZ domain containing 7

Synonyms

EG435601, Pdzk7

MMRRC Submission

038716-MU

Accession Numbers

Essential gene?

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

Stock #

R0523 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45015345-45034156 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45024529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 497 (T497S)

Ref Sequence

ENSEMBL: ENSMUSP00000133273 (fasta)

Gene Model

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

AlphaFold

E9Q9W7

Predicted Effect

probably benign
Transcript: ENSMUST00000145391
AA Change: T497S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000119002
Gene: ENSMUSG00000074818
AA Change: T497S

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: ENSMUST00000169459
AA Change: T497S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000133273
Gene: ENSMUSG00000074818
AA Change: T497S

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: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.7%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,535,289 (GRCm39)	D807G	possibly damaging	Het
Actl9	T	A	17: 33,652,323 (GRCm39)	W128R	probably damaging	Het
Aggf1	T	C	13: 95,492,924 (GRCm39)	I562V	probably damaging	Het
Ano3	T	A	2: 110,715,200 (GRCm39)	E79D	probably benign	Het
Apobec1	T	A	6: 122,558,504 (GRCm39)	I84F	probably damaging	Het
Atp6v1b2	T	C	8: 69,562,637 (GRCm39)	F458L	possibly damaging	Het
Bco2	A	T	9: 50,445,926 (GRCm39)	V490E	probably damaging	Het
Catsperg1	G	A	7: 28,884,615 (GRCm39)		probably benign	Het
Cdc37	T	C	9: 21,054,292 (GRCm39)	K111R	probably damaging	Het
Cfap54	T	C	10: 92,744,745 (GRCm39)		probably benign	Het
Cfap91	G	A	16: 38,148,736 (GRCm39)	P231S	probably damaging	Het
Cplane1	T	A	15: 8,223,870 (GRCm39)	Y878N	probably damaging	Het
Cpox	T	A	16: 58,495,608 (GRCm39)	C308*	probably null	Het
Cracdl	A	T	1: 37,683,710 (GRCm39)	M1K	probably null	Het
Ctnna3	T	G	10: 64,511,688 (GRCm39)	M626R	probably damaging	Het
Cyp2c68	T	C	19: 39,727,873 (GRCm39)	E93G	probably benign	Het
Cyp2s1	G	A	7: 25,505,475 (GRCm39)	R330W	probably damaging	Het
Diaph1	C	T	18: 37,989,553 (GRCm39)	V860I	possibly damaging	Het
Dicer1	A	G	12: 104,668,750 (GRCm39)	S1311P	probably damaging	Het
Dpyd	G	A	3: 118,692,852 (GRCm39)	R332K	probably benign	Het
E130308A19Rik	G	A	4: 59,719,716 (GRCm39)	R416H	probably damaging	Het
Eef1d	T	C	15: 75,775,005 (GRCm39)	D218G	probably benign	Het
Eif2ak1	T	C	5: 143,818,984 (GRCm39)	V215A	probably damaging	Het
Eif2ak4	T	C	2: 118,272,577 (GRCm39)		probably null	Het
Fcrl5	T	C	3: 87,365,099 (GRCm39)	S583P	possibly damaging	Het
Garin5b	A	G	7: 4,762,392 (GRCm39)	S246P	possibly damaging	Het
Grid2ip	C	A	5: 143,358,798 (GRCm39)	Q29K	possibly damaging	Het
Htr1f	A	T	16: 64,746,262 (GRCm39)	N343K	probably damaging	Het
Hvcn1	T	C	5: 122,354,428 (GRCm39)		probably null	Het
Igf2r	T	C	17: 12,910,951 (GRCm39)	I1956V	probably benign	Het
Impdh2	A	T	9: 108,439,018 (GRCm39)		probably null	Het
Impdh2	C	T	9: 108,439,019 (GRCm39)	T96I	possibly damaging	Het
Lactb	C	G	9: 66,877,974 (GRCm39)	G285A	probably benign	Het
Lrrc43	T	C	5: 123,639,305 (GRCm39)	S445P	probably damaging	Het
Mapk12	T	G	15: 89,019,848 (GRCm39)	M120L	probably benign	Het
Mroh8	C	G	2: 157,065,956 (GRCm39)	A669P	probably damaging	Het
Mrpl38	A	C	11: 116,022,844 (GRCm39)	H373Q	probably benign	Het
Myocd	A	G	11: 65,071,728 (GRCm39)	V740A	probably damaging	Het
Naprt	A	G	15: 75,764,314 (GRCm39)	F300S	probably damaging	Het
Ncam2	T	C	16: 81,258,531 (GRCm39)	I271T	probably damaging	Het
Nek4	A	G	14: 30,701,995 (GRCm39)	T582A	probably benign	Het
Notch2	G	A	3: 98,018,914 (GRCm39)	R692H	probably benign	Het
Notch2	C	T	3: 97,978,286 (GRCm39)	T89I	probably benign	Het
Nt5c3	A	T	6: 56,860,666 (GRCm39)	N296K	probably damaging	Het
Nt5c3b	T	A	11: 100,327,036 (GRCm39)	I87F	probably damaging	Het
Oas3	T	C	5: 120,904,209 (GRCm39)	Q555R	unknown	Het
Or2ag17	A	G	7: 106,389,533 (GRCm39)	V225A	probably damaging	Het
Or5p69	A	T	7: 107,967,438 (GRCm39)	H247L	probably damaging	Het
Or9g19	T	A	2: 85,600,273 (GRCm39)	S43T	probably benign	Het
P3h1	C	A	4: 119,098,727 (GRCm39)	Q410K	probably benign	Het
Pax3	A	G	1: 78,172,078 (GRCm39)	V44A	possibly damaging	Het
Pde1c	T	A	6: 56,151,926 (GRCm39)	L252F	probably damaging	Het
Piezo2	T	C	18: 63,155,552 (GRCm39)	T253A	probably damaging	Het
Pipox	T	C	11: 77,782,965 (GRCm39)	E79G	probably damaging	Het
Pole	G	T	5: 110,451,459 (GRCm39)	M829I	probably damaging	Het
Ppp1r12c	A	T	7: 4,492,771 (GRCm39)	L156Q	probably damaging	Het
Psme2b	T	G	11: 48,836,609 (GRCm39)	T113P	probably damaging	Het
Ptprq	A	G	10: 107,416,081 (GRCm39)	I1739T	possibly damaging	Het
Qser1	T	C	2: 104,620,021 (GRCm39)	T174A	probably damaging	Het
Rcor3	T	G	1: 191,814,736 (GRCm39)	D81A	probably damaging	Het
Rev3l	T	C	10: 39,724,045 (GRCm39)	V785A	probably benign	Het
Rnf11	T	C	4: 109,314,119 (GRCm39)	D90G	probably benign	Het
Sh3tc1	GCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCC	5: 35,881,410 (GRCm39)		probably benign	Het
Smad2	T	A	18: 76,395,623 (GRCm39)	S21T	probably benign	Het
Smc4	A	G	3: 68,933,221 (GRCm39)	D639G	probably damaging	Het
Smtn	A	T	11: 3,474,664 (GRCm39)	S716T	possibly damaging	Het
Smug1	G	T	15: 103,064,136 (GRCm39)	Q262K	probably benign	Het
Sspo	G	T	6: 48,428,794 (GRCm39)	G403V	probably benign	Het
Tas2r131	A	G	6: 132,934,414 (GRCm39)	F132L	possibly damaging	Het
Tgm3	T	C	2: 129,886,582 (GRCm39)		probably null	Het
Tigd2	C	T	6: 59,187,358 (GRCm39)	T75M	probably benign	Het
Tnfrsf13b	T	C	11: 61,038,413 (GRCm39)	V232A	probably benign	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Trim47	A	G	11: 115,998,716 (GRCm39)	L301S	probably damaging	Het
Trim75	G	A	8: 65,436,442 (GRCm39)	H3Y	probably benign	Het
Trp53bp1	C	A	2: 121,082,349 (GRCm39)	A317S	probably null	Het
Tsbp1	G	T	17: 34,664,473 (GRCm39)		probably null	Het
Ttc29	G	C	8: 79,003,466 (GRCm39)	L227F	probably benign	Het
Ttc39d	G	A	17: 80,523,886 (GRCm39)	D182N	possibly damaging	Het
Ttll10	T	A	4: 156,129,818 (GRCm39)	R164*	probably null	Het
Ufsp2	T	A	8: 46,449,780 (GRCm39)	D447E	probably benign	Het
Ugt2b37	T	A	5: 87,399,691 (GRCm39)	L272F	possibly damaging	Het
Vps13b	T	C	15: 35,472,196 (GRCm39)	V833A	probably benign	Het
Zbbx	T	C	3: 74,989,165 (GRCm39)	T308A	probably benign	Het
Zfp933	G	A	4: 147,910,919 (GRCm39)	Q226*	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
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
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'- AGCACCGTCTAGGAGTTAGACACAG -3'
(R):5'- GGTCTAGTCCAAACAAACCTGCCTC -3'

Sequencing Primer
(F):5'- AGTGCTGACTTTTGCTCCC -3'
(R):5'- ctcctttccttctctctgcc -3'

Posted On

2013-06-12