Mutagenetix > Incidental Mutation

Incidental Mutation 'R2376:Pde10a'

248292

Institutional Source

Beutler Lab

Gene Symbol

Pde10a

Ensembl Gene

ENSMUSG00000023868

Gene Name

phosphodiesterase 10A

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2376 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8744204-9205480 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9149369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 407 (Y407C)

Ref Sequence

ENSEMBL: ENSMUSP00000156356 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024647] [ENSMUST00000089085] [ENSMUST00000115715] [ENSMUST00000115717] [ENSMUST00000115720] [ENSMUST00000115724] [ENSMUST00000149440] [ENSMUST00000231430]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000024647
AA Change: Y45C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000024647
Gene: ENSMUSG00000023868
AA Change: Y45C

Domain	Start	End	E-Value	Type
GAF	21	174	1.44e-3	SMART
GAF	196	352	6.56e-29	SMART
HDc	442	608	9.04e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000089085
AA Change: Y125C

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

SMART Domains

Protein: ENSMUSP00000086485
Gene: ENSMUSG00000023868
AA Change: Y125C

Domain	Start	End	E-Value	Type
GAF	101	254	1.44e-3	SMART
GAF	276	432	6.56e-29	SMART
HDc	522	688	9.04e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000115715
AA Change: Y45C

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

SMART Domains

Protein: ENSMUSP00000111380
Gene: ENSMUSG00000023868
AA Change: Y45C

Domain	Start	End	E-Value	Type
GAF	21	174	1.44e-3	SMART
GAF	196	352	6.56e-29	SMART
HDc	442	608	9.04e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115717

Predicted Effect

probably damaging
Transcript: ENSMUST00000115720
AA Change: Y108C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111385
Gene: ENSMUSG00000023868
AA Change: Y108C

Domain	Start	End	E-Value	Type
GAF	84	237	1.44e-3	SMART
GAF	259	415	6.56e-29	SMART
HDc	505	671	9.04e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000115724
AA Change: Y179C

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

SMART Domains

Protein: ENSMUSP00000111389
Gene: ENSMUSG00000023868
AA Change: Y179C

Domain	Start	End	E-Value	Type
GAF	95	248	1.44e-3	SMART
GAF	270	426	6.56e-29	SMART
HDc	516	682	9.04e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136160

Predicted Effect

probably damaging
Transcript: ENSMUST00000149440
AA Change: Y56C

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

SMART Domains

Protein: ENSMUSP00000123216
Gene: ENSMUSG00000023868
AA Change: Y56C

Domain	Start	End	E-Value	Type
GAF	32	185	1.44e-3	SMART
GAF	207	363	6.56e-29	SMART
HDc	453	619	9.04e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000231430
AA Change: Y407C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.5745

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase family. It plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. This protein can hydrolyze both cAMP and cGMP to the corresponding nucleoside 5' monophosphate, but has higher affinity for cAMP, and is more efficient with cAMP as substrate. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygous mutation of this gene results in decreased exploratory behavior, hypoactivity, and a delay in the acquisition of conditioned avoidance behavior. A hypomorphic allele results in increased social behavior. Mice homozygous for a knock-out allele exhibit resistance to diet-induced obesity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	A	T	6: 92,889,812 (GRCm39)	V254E	probably benign	Het
Anapc16	T	C	10: 59,824,579 (GRCm39)	E119G	possibly damaging	Het
Ankrd13d	T	A	19: 4,322,623 (GRCm39)	I350F	possibly damaging	Het
Asb6	A	G	2: 30,714,414 (GRCm39)	M232T	probably benign	Het
Cacna1g	A	G	11: 94,356,734 (GRCm39)	V134A	probably damaging	Het
Catsperz	A	T	19: 6,902,266 (GRCm39)	L76H	probably damaging	Het
Eno4	T	C	19: 58,941,658 (GRCm39)	V17A	probably benign	Het
Hrob	A	G	11: 102,141,542 (GRCm39)	D14G	probably benign	Het
Ltn1	A	G	16: 87,217,695 (GRCm39)		probably null	Het
Myh9	G	T	15: 77,667,617 (GRCm39)	D605E	probably benign	Het
Obscn	C	T	11: 58,959,950 (GRCm39)	A3515T	probably damaging	Het
Pck1	A	G	2: 172,998,909 (GRCm39)	K389R	probably benign	Het
Plce1	G	A	19: 38,766,430 (GRCm39)	V2138I	probably benign	Het
Pou4f2	T	G	8: 79,162,814 (GRCm39)	S74R	unknown	Het
Ptpn21	A	T	12: 98,654,573 (GRCm39)	M798K	possibly damaging	Het
Rhag	G	T	17: 41,122,254 (GRCm39)		probably null	Het
Utp6	C	G	11: 79,846,439 (GRCm39)	E181Q	probably damaging	Het
Vcan	G	T	13: 89,851,529 (GRCm39)	Q1144K	possibly damaging	Het
Vmn1r88	T	A	7: 12,911,785 (GRCm39)	V47D	probably damaging	Het

Other mutations in Pde10a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01534:Pde10a	APN	17	9,163,802 (GRCm39)	missense	probably damaging	1.00
IGL01762:Pde10a	APN	17	9,161,750 (GRCm39)	missense	possibly damaging	0.74
IGL01814:Pde10a	APN	17	9,147,939 (GRCm39)	start codon destroyed	probably null	0.00
IGL02053:Pde10a	APN	17	9,193,601 (GRCm39)	missense	probably damaging	1.00
IGL02386:Pde10a	APN	17	9,172,636 (GRCm39)	missense	possibly damaging	0.93
IGL02573:Pde10a	APN	17	9,180,722 (GRCm39)	missense	probably benign	0.38
IGL02583:Pde10a	APN	17	9,200,462 (GRCm39)	missense	probably benign	0.23
IGL02649:Pde10a	APN	17	9,172,604 (GRCm39)	missense	probably damaging	1.00
IGL02992:Pde10a	APN	17	9,168,293 (GRCm39)	missense	probably damaging	0.97
IGL03109:Pde10a	APN	17	9,148,046 (GRCm39)	critical splice donor site	probably null
brautigam	UTSW	17	9,183,509 (GRCm39)	missense	possibly damaging	0.78
Bride	UTSW	17	9,168,262 (GRCm39)	missense	possibly damaging	0.60
buzzed	UTSW	17	9,149,369 (GRCm39)	missense	probably damaging	1.00
Gracile	UTSW	17	9,180,752 (GRCm39)	missense	possibly damaging	0.63
Nubile	UTSW	17	9,186,294 (GRCm39)	missense	probably damaging	1.00
thunderball	UTSW	17	9,188,421 (GRCm39)	missense	probably damaging	1.00
R0004:Pde10a	UTSW	17	9,200,408 (GRCm39)	missense	probably benign	0.00
R0015:Pde10a	UTSW	17	9,196,029 (GRCm39)	missense	probably damaging	1.00
R0015:Pde10a	UTSW	17	9,196,029 (GRCm39)	missense	probably damaging	1.00
R0650:Pde10a	UTSW	17	9,161,797 (GRCm39)	missense	probably damaging	1.00
R1173:Pde10a	UTSW	17	9,139,378 (GRCm39)	splice site	probably benign
R1386:Pde10a	UTSW	17	9,172,574 (GRCm39)	missense	probably damaging	1.00
R1458:Pde10a	UTSW	17	9,183,540 (GRCm39)	missense	probably damaging	0.98
R1598:Pde10a	UTSW	17	9,147,976 (GRCm39)	missense	probably damaging	1.00
R1661:Pde10a	UTSW	17	9,117,702 (GRCm39)	missense	probably damaging	1.00
R1665:Pde10a	UTSW	17	9,117,702 (GRCm39)	missense	probably damaging	1.00
R1883:Pde10a	UTSW	17	9,197,776 (GRCm39)	missense	possibly damaging	0.86
R1960:Pde10a	UTSW	17	9,161,750 (GRCm39)	missense	possibly damaging	0.74
R2005:Pde10a	UTSW	17	9,147,923 (GRCm39)	critical splice acceptor site	probably null
R2071:Pde10a	UTSW	17	9,180,827 (GRCm39)	missense	probably benign	0.22
R2121:Pde10a	UTSW	17	9,196,047 (GRCm39)	missense	probably damaging	1.00
R3721:Pde10a	UTSW	17	9,188,421 (GRCm39)	missense	probably damaging	1.00
R3872:Pde10a	UTSW	17	8,975,923 (GRCm39)	missense	possibly damaging	0.92
R4627:Pde10a	UTSW	17	9,200,484 (GRCm39)	missense	probably damaging	1.00
R4652:Pde10a	UTSW	17	8,975,885 (GRCm39)	missense	possibly damaging	0.82
R5107:Pde10a	UTSW	17	9,163,802 (GRCm39)	missense	probably damaging	1.00
R5184:Pde10a	UTSW	17	9,195,987 (GRCm39)	missense	probably damaging	1.00
R5354:Pde10a	UTSW	17	9,180,812 (GRCm39)	missense	probably damaging	0.97
R5735:Pde10a	UTSW	17	9,160,024 (GRCm39)	missense	probably damaging	0.99
R5878:Pde10a	UTSW	17	9,168,204 (GRCm39)	missense	possibly damaging	0.85
R5921:Pde10a	UTSW	17	9,149,369 (GRCm39)	missense	probably damaging	1.00
R6027:Pde10a	UTSW	17	9,183,509 (GRCm39)	missense	possibly damaging	0.78
R6145:Pde10a	UTSW	17	9,147,949 (GRCm39)	missense	probably damaging	1.00
R6279:Pde10a	UTSW	17	9,197,789 (GRCm39)	missense	probably damaging	0.99
R6409:Pde10a	UTSW	17	9,168,270 (GRCm39)	missense	probably damaging	1.00
R6870:Pde10a	UTSW	17	9,186,356 (GRCm39)	missense	possibly damaging	0.56
R6947:Pde10a	UTSW	17	9,188,424 (GRCm39)	missense	probably damaging	1.00
R7072:Pde10a	UTSW	17	9,161,858 (GRCm39)	missense	probably benign	0.40
R7084:Pde10a	UTSW	17	9,159,994 (GRCm39)	missense	probably benign	0.25
R7294:Pde10a	UTSW	17	8,975,853 (GRCm39)	missense	probably benign
R7339:Pde10a	UTSW	17	8,975,860 (GRCm39)	missense	probably benign	0.01
R7347:Pde10a	UTSW	17	9,186,294 (GRCm39)	missense	probably damaging	1.00
R7373:Pde10a	UTSW	17	9,161,824 (GRCm39)	missense	probably benign	0.00
R7481:Pde10a	UTSW	17	9,168,262 (GRCm39)	missense	possibly damaging	0.60
R7833:Pde10a	UTSW	17	9,180,752 (GRCm39)	missense	possibly damaging	0.63
R7923:Pde10a	UTSW	17	9,147,964 (GRCm39)	missense	probably benign	0.40
R8053:Pde10a	UTSW	17	9,193,604 (GRCm39)	missense	probably benign	0.12
R8137:Pde10a	UTSW	17	9,193,647 (GRCm39)	missense	possibly damaging	0.90
R8722:Pde10a	UTSW	17	9,163,772 (GRCm39)	missense	probably benign	0.01
R8918:Pde10a	UTSW	17	9,160,063 (GRCm39)	missense	possibly damaging	0.65
R8973:Pde10a	UTSW	17	9,143,071 (GRCm39)	missense	probably benign
R9113:Pde10a	UTSW	17	9,197,782 (GRCm39)	missense	probably benign
R9163:Pde10a	UTSW	17	9,181,791 (GRCm39)	missense	possibly damaging	0.89
R9275:Pde10a	UTSW	17	9,200,488 (GRCm39)	makesense	probably null
R9563:Pde10a	UTSW	17	9,020,710 (GRCm39)	missense	unknown
R9641:Pde10a	UTSW	17	9,197,816 (GRCm39)	missense
R9660:Pde10a	UTSW	17	9,170,370 (GRCm39)	missense	probably damaging	0.99
R9670:Pde10a	UTSW	17	9,020,272 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGAAAATGTCTGTAGACTGGGAACC -3'
(R):5'- CATTTCTGGCAGGCAGTAGC -3'

Sequencing Primer
(F):5'- TGTTATTGAGCAAAGCCACAC -3'
(R):5'- CCAAAGGTACAACCGAAGTGCG -3'

Posted On

2014-11-11