Mutagenetix > Incidental Mutation

Incidental Mutation 'R7793:Pde6c'

600088

Institutional Source

Beutler Lab

Gene Symbol

Pde6c

Ensembl Gene

ENSMUSG00000024992

Gene Name

phosphodiesterase 6C, cGMP specific, cone, alpha prime

Synonyms

cpfl1

MMRRC Submission

045849-MU

Accession Numbers

Essential gene?

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

Stock #

R7793 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38121220-38172391 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 38148201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 485 (C485F)

Ref Sequence

ENSEMBL: ENSMUSP00000025956 (fasta)

Gene Model

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

AlphaFold

Q91ZQ1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025956
AA Change: C485F

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025956
Gene: ENSMUSG00000024992
AA Change: C485F

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

probably damaging
Transcript: ENSMUST00000112329
AA Change: C485F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107948
Gene: ENSMUSG00000024992
AA Change: C485F

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

0.1905

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (94/94)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002J24Rik	T	G	7: 30,399,368 (GRCm39)	I54S	probably damaging	Het
2310002L09Rik	C	T	4: 73,861,172 (GRCm39)	V143M	probably benign	Het
Abca1	T	C	4: 53,042,367 (GRCm39)	I1902V	not run	Het
Apob	A	C	12: 8,058,124 (GRCm39)	D2202A	probably damaging	Het
Arhgap44	T	A	11: 64,900,750 (GRCm39)	S623C	probably damaging	Het
Arhgef7	T	A	8: 11,874,507 (GRCm39)	W713R	possibly damaging	Het
Axdnd1	A	C	1: 156,166,313 (GRCm39)		probably null	Het
Bcl9l	C	A	9: 44,420,994 (GRCm39)	H1467N	probably damaging	Het
Bcl9l	T	C	9: 44,420,263 (GRCm39)	M1223T	probably benign	Het
Bltp2	C	T	11: 78,164,031 (GRCm39)	P1124L	possibly damaging	Het
Brinp3	A	G	1: 146,622,306 (GRCm39)	N236S	probably benign	Het
Cckbr	T	G	7: 105,082,798 (GRCm39)	L54V	probably benign	Het
Cd6	G	A	19: 10,775,722 (GRCm39)	Q246*	probably null	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Ces3a	T	A	8: 105,782,293 (GRCm39)		probably null	Het
Cgnl1	T	A	9: 71,632,917 (GRCm39)	N145Y	probably damaging	Het
Col6a5	T	C	9: 105,775,934 (GRCm39)	D1707G	probably damaging	Het
Cyp2w1	A	G	5: 139,341,895 (GRCm39)	T103A	probably damaging	Het
Dip2a	A	T	10: 76,114,417 (GRCm39)	I1021N	probably benign	Het
Dnah2	T	C	11: 69,386,040 (GRCm39)	T981A	probably benign	Het
Dnah8	A	G	17: 31,074,918 (GRCm39)	I4546V	probably benign	Het
E2f8	A	C	7: 48,527,823 (GRCm39)	F106L	probably benign	Het
Ecpas	T	C	4: 58,853,150 (GRCm39)	N395S	probably damaging	Het
Eif4g1	G	A	16: 20,507,364 (GRCm39)	V1413I	probably benign	Het
Epha10	G	A	4: 124,808,246 (GRCm39)	V688I	probably benign	Het
Exoc2	A	T	13: 31,095,161 (GRCm39)	V245D	probably benign	Het
Eya4	T	A	10: 23,102,714 (GRCm39)	E23D	probably benign	Het
Fbxw10	T	A	11: 62,738,213 (GRCm39)	W36R	possibly damaging	Het
Gabbr1	G	A	17: 37,358,393 (GRCm39)	G44S	probably benign	Het
Gabrg3	T	A	7: 56,829,328 (GRCm39)	Q143L	probably benign	Het
Gm14412	A	C	2: 177,007,660 (GRCm39)	I78M	possibly damaging	Het
Gm7298	T	C	6: 121,737,563 (GRCm39)		probably null	Het
Hpse2	A	T	19: 43,376,509 (GRCm39)	L81Q	probably damaging	Het
Il18r1	A	G	1: 40,510,924 (GRCm39)	H3R	probably benign	Het
Kansl1l	T	C	1: 66,817,173 (GRCm39)	K396E	probably damaging	Het
Kbtbd3	T	A	9: 4,331,221 (GRCm39)	S532T	probably damaging	Het
Lrrtm4	T	C	6: 79,999,841 (GRCm39)	Y418H	probably damaging	Het
Mfng	G	A	15: 78,657,265 (GRCm39)	R70C	probably damaging	Het
Mx2	T	A	16: 97,348,083 (GRCm39)	I236K	probably damaging	Het
Mysm1	T	C	4: 94,853,369 (GRCm39)	Q410R	probably damaging	Het
Nlrp12	T	C	7: 3,294,030 (GRCm39)	N100S	probably benign	Het
Nlrp4b	T	A	7: 10,459,001 (GRCm39)	H773Q	probably benign	Het
Nlrp5	T	A	7: 23,123,343 (GRCm39)	S735T	possibly damaging	Het
Nt5c2	G	A	19: 46,880,020 (GRCm39)	R363W	probably benign	Het
Or12k8	A	G	2: 36,974,933 (GRCm39)	F276L	possibly damaging	Het
Or3a10	T	A	11: 73,935,614 (GRCm39)	H162L	possibly damaging	Het
Otud7b	A	T	3: 96,062,528 (GRCm39)	Y589F	probably benign	Het
P2rx1	T	A	11: 72,900,079 (GRCm39)	C165*	probably null	Het
Pax8	T	C	2: 24,319,609 (GRCm39)	D354G	possibly damaging	Het
Pdcd11	G	A	19: 47,094,871 (GRCm39)	V552I	probably benign	Het
Pex5	T	C	6: 124,376,300 (GRCm39)	Y434C	probably benign	Het
Ppargc1a	T	C	5: 51,619,851 (GRCm39)		probably null	Het
Prss2	A	T	6: 41,501,886 (GRCm39)	D224V	possibly damaging	Het
Psd2	A	G	18: 36,136,032 (GRCm39)	N440S	probably benign	Het
Psmb3	T	A	11: 97,603,265 (GRCm39)	D159E	probably benign	Het
Ptgr2	T	G	12: 84,354,575 (GRCm39)	L252R	probably damaging	Het
Ptpro	A	T	6: 137,393,818 (GRCm39)	N829Y	probably damaging	Het
Rhobtb2	C	A	14: 70,034,280 (GRCm39)	R315L	probably benign	Het
Rimbp2	A	T	5: 128,866,759 (GRCm39)	V520D	possibly damaging	Het
Schip1	A	T	3: 68,401,911 (GRCm39)	Y24F	probably benign	Het
Sdha	A	T	13: 74,479,555 (GRCm39)	V432E	probably damaging	Het
Sez6	T	C	11: 77,868,426 (GRCm39)	L929P	probably damaging	Het
Shcbp1l	A	G	1: 153,323,571 (GRCm39)	I466V	probably benign	Het
Skor1	T	C	9: 63,052,167 (GRCm39)	S601G	probably damaging	Het
Slc6a7	A	C	18: 61,138,851 (GRCm39)	L219R	probably damaging	Het
Smok2a	T	C	17: 13,444,513 (GRCm39)	M30T	possibly damaging	Het
Sp8	A	G	12: 118,813,144 (GRCm39)	D333G	probably damaging	Het
Spp1	G	A	5: 104,588,200 (GRCm39)	D201N	probably damaging	Het
Sstr3	A	T	15: 78,424,588 (GRCm39)	L53Q	probably damaging	Het
Tacc2	T	A	7: 130,224,843 (GRCm39)	N509K	probably benign	Het
Tdrd1	T	C	19: 56,852,809 (GRCm39)	V1030A	probably damaging	Het
Tfrc	A	G	16: 32,437,985 (GRCm39)	K346R	probably benign	Het
Tgm3	G	A	2: 129,854,330 (GRCm39)		probably null	Het
Tomm5	C	A	4: 45,106,651 (GRCm39)	L88F	unknown	Het
Trak1	T	A	9: 121,245,264 (GRCm39)	C46*	probably null	Het
Trim8	A	T	19: 46,504,053 (GRCm39)	D535V	probably damaging	Het
Trpm7	A	T	2: 126,665,995 (GRCm39)	Y870*	probably null	Het
Tspoap1	T	C	11: 87,655,136 (GRCm39)	L286P	probably benign	Het
Ttll3	AAGTA	AAGTAGAGTA	6: 113,376,120 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,562,389 (GRCm39)	I28819F	probably damaging	Het
Twf2	T	C	9: 106,089,079 (GRCm39)	S89P	probably damaging	Het
Ulk4	C	T	9: 121,092,734 (GRCm39)	E168K	possibly damaging	Het
Unc13b	T	A	4: 43,172,737 (GRCm39)	N1188K	unknown	Het
Utp6	C	T	11: 79,828,556 (GRCm39)	V528I	probably benign	Het
Vmn1r78	T	C	7: 11,887,241 (GRCm39)	F284S	probably benign	Het
Vmn2r54	T	A	7: 12,366,196 (GRCm39)	Q246L	probably damaging	Het
Vmn2r87	A	G	10: 130,313,413 (GRCm39)	M451T	probably benign	Het
Vwf	C	T	6: 125,663,483 (GRCm39)	P2808L		Het
Wdr97	T	C	15: 76,243,307 (GRCm39)	L989P		Het
Wwc1	T	C	11: 35,759,936 (GRCm39)	Q693R	probably benign	Het
Zfp582	C	T	7: 6,356,886 (GRCm39)	S233L	probably damaging	Het
Zfp658	T	A	7: 43,224,108 (GRCm39)	H794Q	possibly damaging	Het
Zfp882	A	G	8: 72,666,985 (GRCm39)	D8G	probably damaging	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
R1781:Pde6c	UTSW	19	38,140,146 (GRCm39)	missense	possibly damaging	0.69
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
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'- GAAACAATTCTTCCTAATCATTTGCT -3'
(R):5'- TGGAAGACTTCTTTCTTTTCCGC -3'

Sequencing Primer
(F):5'- ATCAGTCTCTTCCCATGCAGAATG -3'
(R):5'- GAAGACTTCTTTCTTTTCCGCCTTGG -3'

Posted On

2019-11-26