Mutagenetix > Incidental Mutation

Incidental Mutation 'R1781:Pde6c'

195343

Institutional Source

Beutler Lab

Gene Symbol

Pde6c

Ensembl Gene

ENSMUSG00000024992

Gene Name

phosphodiesterase 6C, cGMP specific, cone, alpha prime

Synonyms

cpfl1

MMRRC Submission

039812-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R1781 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38121220-38172391 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38140146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 336 (S336P)

Ref Sequence

ENSEMBL: ENSMUSP00000107948 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025956] [ENSMUST00000112329]

AlphaFold

Q91ZQ1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025956
AA Change: S336P

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000025956
Gene: ENSMUSG00000024992
AA Change: S336P

Domain	Start	End	E-Value	Type
GAF	75	234	6.27e-26	SMART
GAF	256	443	1.48e-22	SMART
Blast:HDc	490	543	1e-8	BLAST
HDc	559	737	7.57e-9	SMART
low complexity region	827	836	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112329
AA Change: S336P

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107948
Gene: ENSMUSG00000024992
AA Change: S336P

Domain	Start	End	E-Value	Type
GAF	75	234	6.27e-26	SMART
GAF	256	443	1.48e-22	SMART
Blast:HDc	490	543	1e-8	BLAST
HDc	559	737	1.62e-8	SMART
low complexity region	802	811	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 94.6%
20x: 90.1%

Validation Efficiency

97% (88/91)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010]
PHENOTYPE: A spontaneous mutation in this gene results in abnormal cone photoreceptor function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	G	3: 59,932,117 (GRCm39)	K211E	probably damaging	Het
Abca13	T	A	11: 9,219,194 (GRCm39)	L376Q	probably damaging	Het
Abca17	T	C	17: 24,486,531 (GRCm39)	T1499A	possibly damaging	Het
Anks6	A	C	4: 47,043,639 (GRCm39)	N363K	possibly damaging	Het
Apob	T	A	12: 8,059,603 (GRCm39)	I2695N	possibly damaging	Het
Arhgef18	C	T	8: 3,430,495 (GRCm39)	R123W	probably damaging	Het
Atg14	T	A	14: 47,786,607 (GRCm39)		probably null	Het
Atg2a	A	T	19: 6,306,243 (GRCm39)	I1368F	probably damaging	Het
Btbd9	A	G	17: 30,732,567 (GRCm39)	S373P	probably damaging	Het
Ccdc83	T	C	7: 89,899,749 (GRCm39)	E41G	probably damaging	Het
Ccnh	T	C	13: 85,354,254 (GRCm39)	S233P	possibly damaging	Het
Cdh8	T	C	8: 99,917,094 (GRCm39)		probably null	Het
Cdh8	A	T	8: 100,006,290 (GRCm39)	I99N	probably damaging	Het
Cdr2	G	A	7: 120,557,268 (GRCm39)	P419L	probably benign	Het
Cds1	T	A	5: 101,960,416 (GRCm39)	I289K	possibly damaging	Het
Cherp	G	A	8: 73,221,615 (GRCm39)	T394I	probably damaging	Het
Cyp4f17	T	G	17: 32,742,993 (GRCm39)	I222S	possibly damaging	Het
Dcc	A	G	18: 71,511,788 (GRCm39)	S856P	probably benign	Het
Dcp1a	C	T	14: 30,235,032 (GRCm39)	T221I	probably benign	Het
Ddx10	A	G	9: 53,118,845 (GRCm39)	S475P	probably damaging	Het
Dennd5b	G	T	6: 148,928,896 (GRCm39)	A759E	probably damaging	Het
Disp2	G	A	2: 118,623,042 (GRCm39)	G1258D	probably damaging	Het
Fhdc1	A	T	3: 84,356,111 (GRCm39)	D444E	probably damaging	Het
Fhod1	T	C	8: 106,074,421 (GRCm39)		probably benign	Het
Gcnt7	T	C	2: 172,296,800 (GRCm39)	K8R	probably benign	Het
Gk5	C	T	9: 96,015,508 (GRCm39)	T108I	possibly damaging	Het
Gm8214	C	A	1: 183,414,129 (GRCm39)		noncoding transcript	Het
Gnl1	A	T	17: 36,298,638 (GRCm39)	I434F	probably damaging	Het
Golga2	T	C	2: 32,196,588 (GRCm39)	Y986H	probably damaging	Het
Gpr21	T	C	2: 37,407,550 (GRCm39)	V32A	probably benign	Het
Grb14	A	T	2: 64,805,899 (GRCm39)		probably null	Het
H6pd	A	T	4: 150,080,388 (GRCm39)	F144L	probably damaging	Het
Hunk	A	G	16: 90,229,448 (GRCm39)	Y27C	probably damaging	Het
Ints7	C	T	1: 191,328,396 (GRCm39)	T223M	possibly damaging	Het
Kcnmb2	T	C	3: 32,233,152 (GRCm39)		probably null	Het
Lilra6	A	T	7: 3,918,066 (GRCm39)	L26H	probably benign	Het
Mc4r	A	T	18: 66,992,918 (GRCm39)	V65E	probably damaging	Het
Mgam	G	A	6: 40,646,797 (GRCm39)	G708R	probably damaging	Het
Mllt6	A	G	11: 97,563,395 (GRCm39)	D326G	probably benign	Het
Myo7a	A	T	7: 97,722,331 (GRCm39)	V1198D	probably damaging	Het
Nampt	T	C	12: 32,883,037 (GRCm39)	V74A	probably damaging	Het
Nlrp4b	G	C	7: 10,449,266 (GRCm39)	V123L	probably benign	Het
Ntpcr	T	A	8: 126,472,141 (GRCm39)	L150Q	probably damaging	Het
Obscn	C	T	11: 58,997,163 (GRCm39)	E1513K	probably damaging	Het
Ola1	T	C	2: 72,987,099 (GRCm39)	K178E	possibly damaging	Het
Opalin	T	C	19: 41,056,070 (GRCm39)		probably null	Het
Or10g6	A	G	9: 39,934,541 (GRCm39)	N284S	probably damaging	Het
Or13a20	A	T	7: 140,232,419 (GRCm39)	I176F	probably damaging	Het
Or2ad1	C	T	13: 21,326,934 (GRCm39)	V98I	probably benign	Het
Or2w2	C	T	13: 21,757,711 (GRCm39)	G305D	probably damaging	Het
Or3a10	A	T	11: 73,935,786 (GRCm39)	F105I	probably damaging	Het
Or51ah3	C	T	7: 103,209,773 (GRCm39)	P30S	probably benign	Het
Or52ae9	T	C	7: 103,390,028 (GRCm39)	M140V	probably benign	Het
Or52e15	A	T	7: 104,645,315 (GRCm39)	F265L	possibly damaging	Het
Or5p62	A	G	7: 107,771,090 (GRCm39)	V287A	probably benign	Het
Or7a35	T	C	10: 78,853,159 (GRCm39)	M1T	probably null	Het
P2ry12	A	G	3: 59,125,199 (GRCm39)	F159L	probably benign	Het
Paqr7	T	C	4: 134,234,592 (GRCm39)		probably null	Het
Parp1	T	C	1: 180,415,578 (GRCm39)	S466P	probably benign	Het
Parp4	T	A	14: 56,864,838 (GRCm39)		probably null	Het
Pcdh1	T	C	18: 38,322,977 (GRCm39)	D952G	probably damaging	Het
Pgk2	T	C	17: 40,519,398 (GRCm39)	D10G	probably benign	Het
Phf20l1	A	G	15: 66,504,674 (GRCm39)	T771A	probably damaging	Het
Pkdrej	A	G	15: 85,705,372 (GRCm39)	V188A	possibly damaging	Het
Plekhm1	A	G	11: 103,285,682 (GRCm39)	L251P	probably damaging	Het
Prex2	A	T	1: 11,270,179 (GRCm39)	N1288I	probably benign	Het
Sarnp	T	C	10: 128,669,191 (GRCm39)	L16P	probably damaging	Het
Scgb3a2	T	C	18: 43,900,033 (GRCm39)		probably benign	Het
Scn11a	A	T	9: 119,584,148 (GRCm39)	I1489N	probably damaging	Het
Scn3a	A	T	2: 65,302,729 (GRCm39)	L1239Q	probably damaging	Het
Shisa9	T	C	16: 12,085,521 (GRCm39)	S377P	probably benign	Het
Slc22a30	T	A	19: 8,313,136 (GRCm39)	T550S	probably damaging	Het
Slc25a11	T	C	11: 70,535,651 (GRCm39)	T296A	probably benign	Het
Slc35f1	T	A	10: 52,938,532 (GRCm39)		probably null	Het
Slc6a13	A	G	6: 121,311,811 (GRCm39)	E396G	probably damaging	Het
Spata31d1c	T	C	13: 65,183,985 (GRCm39)	I509T	probably benign	Het
Srsf9	C	A	5: 115,465,481 (GRCm39)	Y9*	probably null	Het
Tasor2	T	C	13: 3,634,759 (GRCm39)	T683A	possibly damaging	Het
Tbx20	T	C	9: 24,636,795 (GRCm39)	I431V	probably benign	Het
Tespa1	G	A	10: 130,184,119 (GRCm39)	G67S	probably benign	Het
Trhde	A	T	10: 114,424,405 (GRCm39)	V460E	possibly damaging	Het
Trip12	A	T	1: 84,708,342 (GRCm39)	F1739I	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Umodl1	G	A	17: 31,187,524 (GRCm39)	R196H	probably damaging	Het
Vezf1	G	T	11: 87,972,447 (GRCm39)	M269I	probably benign	Het
Vmn1r35	A	T	6: 66,656,550 (GRCm39)	M40K	probably benign	Het
Vmn1r9	G	T	6: 57,048,300 (GRCm39)	C125F	probably benign	Het
Vmn2r12	C	A	5: 109,239,594 (GRCm39)	G323V	probably benign	Het
Vmn2r79	A	T	7: 86,651,555 (GRCm39)	H318L	probably benign	Het
Zfhx3	T	A	8: 109,520,167 (GRCm39)	S430T	probably benign	Het

Other mutations in Pde6c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Pde6c	APN	19	38,151,324 (GRCm39)	splice site	probably benign
IGL01333:Pde6c	APN	19	38,164,143 (GRCm39)	missense	probably benign	0.05
IGL01390:Pde6c	APN	19	38,150,376 (GRCm39)	missense	probably benign	0.01
IGL02508:Pde6c	APN	19	38,145,948 (GRCm39)	missense	probably benign	0.13
IGL02542:Pde6c	APN	19	38,166,578 (GRCm39)	missense	probably damaging	1.00
IGL02546:Pde6c	APN	19	38,128,488 (GRCm39)	missense	probably benign	0.00
IGL02661:Pde6c	APN	19	38,169,248 (GRCm39)	missense	probably damaging	0.97
silverton	UTSW	19	38,151,293 (GRCm39)	missense	probably damaging	1.00
IGL03097:Pde6c	UTSW	19	38,166,719 (GRCm39)	missense	probably damaging	1.00
R0117:Pde6c	UTSW	19	38,139,979 (GRCm39)	missense	probably damaging	1.00
R0128:Pde6c	UTSW	19	38,157,813 (GRCm39)	splice site	probably benign
R0349:Pde6c	UTSW	19	38,150,797 (GRCm39)	missense	probably damaging	1.00
R0612:Pde6c	UTSW	19	38,121,694 (GRCm39)	missense	probably benign	0.03
R0692:Pde6c	UTSW	19	38,168,698 (GRCm39)	missense	probably damaging	0.99
R0785:Pde6c	UTSW	19	38,121,628 (GRCm39)	missense	probably benign
R1605:Pde6c	UTSW	19	38,129,940 (GRCm39)	missense	probably damaging	1.00
R1643:Pde6c	UTSW	19	38,150,406 (GRCm39)	missense	possibly damaging	0.56
R1694:Pde6c	UTSW	19	38,168,673 (GRCm39)	missense	probably damaging	1.00
R1900:Pde6c	UTSW	19	38,150,388 (GRCm39)	missense	probably damaging	1.00
R1944:Pde6c	UTSW	19	38,145,967 (GRCm39)	missense	probably damaging	1.00
R1945:Pde6c	UTSW	19	38,145,967 (GRCm39)	missense	probably damaging	1.00
R2143:Pde6c	UTSW	19	38,150,777 (GRCm39)	missense	probably damaging	1.00
R2497:Pde6c	UTSW	19	38,142,142 (GRCm39)	missense	probably damaging	1.00
R3737:Pde6c	UTSW	19	38,128,672 (GRCm39)	missense	probably damaging	1.00
R4010:Pde6c	UTSW	19	38,157,884 (GRCm39)	missense	probably damaging	1.00
R4241:Pde6c	UTSW	19	38,151,293 (GRCm39)	missense	probably damaging	1.00
R4242:Pde6c	UTSW	19	38,151,293 (GRCm39)	missense	probably damaging	1.00
R4259:Pde6c	UTSW	19	38,151,293 (GRCm39)	missense	probably damaging	1.00
R4661:Pde6c	UTSW	19	38,157,887 (GRCm39)	missense	probably damaging	1.00
R4677:Pde6c	UTSW	19	38,145,833 (GRCm39)	missense	probably damaging	1.00
R4708:Pde6c	UTSW	19	38,169,341 (GRCm39)	missense	possibly damaging	0.92
R4889:Pde6c	UTSW	19	38,121,599 (GRCm39)	missense	probably benign	0.23
R4898:Pde6c	UTSW	19	38,139,072 (GRCm39)	missense	possibly damaging	0.81
R4941:Pde6c	UTSW	19	38,140,013 (GRCm39)	missense	probably damaging	1.00
R5448:Pde6c	UTSW	19	38,121,623 (GRCm39)	missense	probably damaging	1.00
R6174:Pde6c	UTSW	19	38,128,677 (GRCm39)	missense	possibly damaging	0.57
R6249:Pde6c	UTSW	19	38,147,008 (GRCm39)	critical splice donor site	probably null
R6270:Pde6c	UTSW	19	38,146,884 (GRCm39)	missense	probably damaging	1.00
R7183:Pde6c	UTSW	19	38,121,538 (GRCm39)	missense	probably benign	0.00
R7428:Pde6c	UTSW	19	38,145,984 (GRCm39)	critical splice donor site	probably null
R7429:Pde6c	UTSW	19	38,129,887 (GRCm39)	missense	probably damaging	1.00
R7430:Pde6c	UTSW	19	38,129,887 (GRCm39)	missense	probably damaging	1.00
R7643:Pde6c	UTSW	19	38,129,869 (GRCm39)	missense	probably damaging	1.00
R7793:Pde6c	UTSW	19	38,148,201 (GRCm39)	missense	possibly damaging	0.94
R7811:Pde6c	UTSW	19	38,128,507 (GRCm39)	missense	possibly damaging	0.91
R8097:Pde6c	UTSW	19	38,150,414 (GRCm39)	nonsense	probably null
R9085:Pde6c	UTSW	19	38,166,569 (GRCm39)	missense	probably benign	0.00
R9565:Pde6c	UTSW	19	38,147,008 (GRCm39)	critical splice donor site	probably null
R9720:Pde6c	UTSW	19	38,157,887 (GRCm39)	missense	probably benign	0.13
R9786:Pde6c	UTSW	19	38,140,009 (GRCm39)	missense	possibly damaging	0.95
Z1176:Pde6c	UTSW	19	38,121,329 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTGTGACAGATTACAAGCCTGTGAC -3'
(R):5'- CCTTTCTCCTATGCCAAGAAAGTGACC -3'

Sequencing Primer
(F):5'- CTGGGAATTAATGTTGTGCCCAC -3'
(R):5'- AGAAAGTGACCATCTACCCTTG -3'

Posted On

2014-05-23