Mutagenetix > Incidental Mutation

Incidental Mutation 'R6020:Pdc'

478838

Institutional Source

Beutler Lab

Gene Symbol

Pdc

Ensembl Gene

ENSMUSG00000006007

Gene Name

phosducin

Synonyms

Pdc, Rpr1, Rpr-1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R6020 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

150195168-150209657 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 150209117 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 200 (I200T)

Ref Sequence

ENSEMBL: ENSMUSP00000141136 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165062] [ENSMUST00000185698] [ENSMUST00000186572] [ENSMUST00000191228]

AlphaFold

Q9QW08

Predicted Effect

probably benign
Transcript: ENSMUST00000165062
AA Change: I200T

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000131631
Gene: ENSMUSG00000006007
AA Change: I200T

Domain	Start	End	E-Value	Type
Pfam:Phosducin	1	244	6.4e-130	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000185698

SMART Domains

Protein: ENSMUSP00000140669
Gene: ENSMUSG00000006007

Domain	Start	End	E-Value	Type
Pfam:Phosducin	1	79	2.9e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186460

Predicted Effect

probably benign
Transcript: ENSMUST00000186572

SMART Domains

Protein: ENSMUSP00000140843
Gene: ENSMUSG00000006007

Domain	Start	End	E-Value	Type
Pfam:Phosducin	1	185	1.6e-94	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000191228
AA Change: I200T

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000141136
Gene: ENSMUSG00000006007
AA Change: I200T

Domain	Start	End	E-Value	Type
Pfam:Phosducin	1	244	6.4e-130	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phosphoprotein, which is located in the outer and inner segments of the rod cells in the retina. This protein may participate in the regulation of visual phototransduction or in the integration of photoreceptor metabolism. It modulates the phototransduction cascade by interacting with the beta and gamma subunits of the retinal G-protein transducin. This gene is a potential candidate gene for retinitis pigmentosa and Usher syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display normal retinal morphology and rod function with reduced transducin (Gnat1) translocation. Mice homozygous for a different knock-out allele exhibit large pupils, increased blood pressure, age-related vascular smooth muscle hypertrophy, and stress-induced hypertension. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	C	A	11: 110,036,439 (GRCm39)	V557F	possibly damaging	Het
Abi3	A	T	11: 95,732,851 (GRCm39)	L41*	probably null	Het
Actn1	C	A	12: 80,221,229 (GRCm39)		probably null	Het
Adamts15	G	T	9: 30,813,358 (GRCm39)	R936S	probably benign	Het
Angel2	T	C	1: 190,665,068 (GRCm39)	S22P	probably benign	Het
Ank2	T	G	3: 126,740,470 (GRCm39)		probably benign	Het
Astn1	A	G	1: 158,337,563 (GRCm39)	D423G	probably damaging	Het
Casp9	A	G	4: 141,523,849 (GRCm39)	D78G	probably damaging	Het
Cbr4	A	G	8: 61,940,887 (GRCm39)	D2G	probably benign	Het
Ccdc8	T	A	7: 16,730,506 (GRCm39)	L665H	probably damaging	Het
Cdh23	T	A	10: 60,167,105 (GRCm39)	N1847I	probably damaging	Het
Cnst	T	C	1: 179,437,440 (GRCm39)	W335R	probably benign	Het
Ddr2	T	A	1: 169,832,671 (GRCm39)	I130F	probably benign	Het
Dnah2	C	T	11: 69,391,665 (GRCm39)	A677T	probably benign	Het
Dzip3	C	A	16: 48,772,205 (GRCm39)	W488L	probably damaging	Het
Ephb3	T	G	16: 21,040,763 (GRCm39)	I637S	probably damaging	Het
Etv3	A	G	3: 87,436,671 (GRCm39)	D142G	probably benign	Het
Fabp5	C	T	3: 10,081,149 (GRCm39)	T126I	probably benign	Het
Fam13b	A	C	18: 34,627,827 (GRCm39)	Y125D	probably damaging	Het
Fsip2	C	A	2: 82,822,471 (GRCm39)	P6068Q	probably damaging	Het
Gm11232	A	G	4: 71,674,905 (GRCm39)	F199S	possibly damaging	Het
Gm5493	A	G	17: 22,967,034 (GRCm39)	K57E	probably benign	Het
Gm7334	A	G	17: 51,006,265 (GRCm39)	M184V	probably benign	Het
Gm9894	T	C	13: 67,911,954 (GRCm39)		noncoding transcript	Het
Gpd2	T	A	2: 57,254,525 (GRCm39)	N674K	probably benign	Het
H2-M10.6	A	G	17: 37,123,959 (GRCm39)	Y141C	probably damaging	Het
Heatr5a	C	T	12: 51,931,110 (GRCm39)	E1796K	probably benign	Het
Hexim2	A	G	11: 103,029,118 (GRCm39)	T57A	probably benign	Het
Hrg	A	T	16: 22,773,268 (GRCm39)	N134Y	probably damaging	Het
Hsd17b12	T	C	2: 93,864,322 (GRCm39)	T262A	probably damaging	Het
Irak3	G	T	10: 119,979,042 (GRCm39)	P470T	probably damaging	Het
Itgbl1	A	T	14: 124,083,977 (GRCm39)	D285V	probably damaging	Het
Kcp	A	T	6: 29,502,863 (GRCm39)	V164E	probably benign	Het
Klhdc7b	T	A	15: 89,272,589 (GRCm39)	M1157K	probably damaging	Het
Lcor	G	A	19: 41,571,986 (GRCm39)	G247D	possibly damaging	Het
Mdc1	G	A	17: 36,159,525 (GRCm39)	G635D	probably benign	Het
Mdc1	A	G	17: 36,168,464 (GRCm39)	K1690R	probably benign	Het
Mpp3	A	T	11: 101,909,365 (GRCm39)		probably benign	Het
Ncor2	G	T	5: 125,097,075 (GRCm39)	H2285N	probably benign	Het
Neb	T	A	2: 52,147,839 (GRCm39)	T2727S	probably benign	Het
Nkx6-2	T	C	7: 139,161,483 (GRCm39)	D234G	possibly damaging	Het
Nlrp9c	T	C	7: 26,084,150 (GRCm39)	I476M	probably benign	Het
Nrsn1	T	G	13: 25,437,355 (GRCm39)	Q191P	probably damaging	Het
Or14j10	A	T	17: 37,934,858 (GRCm39)	S223T	possibly damaging	Het
Or1e30	C	T	11: 73,678,378 (GRCm39)	L205F	probably benign	Het
Or51ag1	T	A	7: 103,156,006 (GRCm39)	H49L	probably benign	Het
Patl1	T	G	19: 11,914,718 (GRCm39)	L623R	probably damaging	Het
Pdzk1	A	G	3: 96,775,742 (GRCm39)	D370G	probably benign	Het
Pglyrp3	A	T	3: 91,938,841 (GRCm39)	I339F	probably damaging	Het
Plxnb1	T	C	9: 108,945,679 (GRCm39)	V2070A	probably damaging	Het
Poln	G	A	5: 34,266,775 (GRCm39)	R461C	probably damaging	Het
Prl2b1	C	A	13: 27,567,491 (GRCm39)	V218L	probably damaging	Het
Pygl	T	C	12: 70,263,428 (GRCm39)	D55G	probably damaging	Het
Rif1	C	G	2: 51,985,856 (GRCm39)	L614V	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rsrp1	T	C	4: 134,651,692 (GRCm39)	F152S	probably damaging	Het
Sim2	T	C	16: 93,898,110 (GRCm39)	S115P	probably damaging	Het
Slc17a1	T	A	13: 24,059,593 (GRCm39)	I108K	possibly damaging	Het
Slc30a8	A	G	15: 52,189,054 (GRCm39)	D223G	probably damaging	Het
Slc39a4	A	T	15: 76,500,342 (GRCm39)	N69K	probably benign	Het
Slc51a	T	G	16: 32,298,584 (GRCm39)	T58P	probably damaging	Het
Slc7a14	T	C	3: 31,278,261 (GRCm39)	H448R	probably benign	Het
Smc3	G	A	19: 53,613,594 (GRCm39)		probably null	Het
Sox6	A	T	7: 115,085,863 (GRCm39)	D659E	probably damaging	Het
Stard9	GCCC	GCC	2: 120,524,196 (GRCm39)		probably null	Het
Tsr1	C	T	11: 74,791,119 (GRCm39)		probably null	Het
Ttc12	T	C	9: 49,354,422 (GRCm39)	K565E	probably damaging	Het
Ube4b	A	T	4: 149,452,768 (GRCm39)	V386E	probably benign	Het
Ush2a	T	A	1: 188,460,293 (GRCm39)		probably null	Het
Usp5	C	A	6: 124,794,576 (GRCm39)		probably benign	Het
Vmn1r216	T	C	13: 23,284,105 (GRCm39)	F263L	probably benign	Het
Vmn2r88	T	A	14: 51,655,606 (GRCm39)	L606*	probably null	Het
Wee2	T	A	6: 40,426,554 (GRCm39)		probably null	Het
Zfhx3	T	C	8: 109,519,159 (GRCm39)	Y94H	probably damaging	Het
Zfp385c	G	A	11: 100,523,594 (GRCm39)	P120L	probably benign	Het
Zscan4-ps3	T	C	7: 11,344,228 (GRCm39)	F62S	probably damaging	Het

Other mutations in Pdc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00436:Pdc	APN	1	150,209,006 (GRCm39)	missense	probably damaging	0.99
IGL02537:Pdc	APN	1	150,208,760 (GRCm39)	missense	possibly damaging	0.68
R0349:Pdc	UTSW	1	150,209,178 (GRCm39)	missense	probably benign	0.07
R0502:Pdc	UTSW	1	150,204,165 (GRCm39)	splice site	probably benign
R1167:Pdc	UTSW	1	150,208,996 (GRCm39)	missense	probably damaging	1.00
R1717:Pdc	UTSW	1	150,208,892 (GRCm39)	missense	probably damaging	1.00
R5182:Pdc	UTSW	1	150,209,105 (GRCm39)	missense	possibly damaging	0.84
R5449:Pdc	UTSW	1	150,209,190 (GRCm39)	missense	probably damaging	1.00
R5766:Pdc	UTSW	1	150,209,251 (GRCm39)	makesense	probably null
R6181:Pdc	UTSW	1	150,209,021 (GRCm39)	missense	probably damaging	1.00
R6425:Pdc	UTSW	1	150,209,123 (GRCm39)	missense	probably benign	0.37
R6660:Pdc	UTSW	1	150,209,086 (GRCm39)	missense	probably damaging	1.00
R6717:Pdc	UTSW	1	150,208,769 (GRCm39)	missense	probably damaging	1.00
R6925:Pdc	UTSW	1	150,208,931 (GRCm39)	missense	probably damaging	1.00
R7716:Pdc	UTSW	1	150,206,534 (GRCm39)	missense	probably benign	0.06
R7820:Pdc	UTSW	1	150,209,021 (GRCm39)	missense	probably damaging	1.00
R8030:Pdc	UTSW	1	150,208,964 (GRCm39)	missense	probably damaging	1.00
R9495:Pdc	UTSW	1	150,208,919 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GCAGAAGGTCACCACAATTG -3'
(R):5'- CAGTGTTCACTGTGTAAAGGATAGAC -3'

Sequencing Primer
(F):5'- TAACATTTACGAGGATGGTGTCAG -3'
(R):5'- TTCACTGTGTAAAGGATAGACATGAG -3'

Posted On

2017-06-26