Mutagenetix > Incidental Mutation

Incidental Mutation 'R1173:Pde10a'

99752

Institutional Source

Beutler Lab

Gene Symbol

Pde10a

Ensembl Gene

ENSMUSG00000023868

Gene Name

phosphodiesterase 10A

Synonyms

MMRRC Submission

039246-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1173 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8525372-8986648 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 8920546 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000156356 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024647] [ENSMUST00000089085] [ENSMUST00000115715] [ENSMUST00000115717] [ENSMUST00000115720] [ENSMUST00000115722] [ENSMUST00000115724] [ENSMUST00000149440] [ENSMUST00000231430]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000024647

SMART Domains

Protein: ENSMUSP00000024647
Gene: ENSMUSG00000023868

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: ENSMUST00000089085

SMART Domains

Protein: ENSMUSP00000086485
Gene: ENSMUSG00000023868

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 benign
Transcript: ENSMUST00000115715

SMART Domains

Protein: ENSMUSP00000111380
Gene: ENSMUSG00000023868

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 benign
Transcript: ENSMUST00000115720

SMART Domains

Protein: ENSMUSP00000111385
Gene: ENSMUSG00000023868

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 benign
Transcript: ENSMUST00000115722

Predicted Effect

probably benign
Transcript: ENSMUST00000115724

SMART Domains

Protein: ENSMUSP00000111389
Gene: ENSMUSG00000023868

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 benign
Transcript: ENSMUST00000149440

SMART Domains

Protein: ENSMUSP00000123216
Gene: ENSMUSG00000023868

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 benign
Transcript: ENSMUST00000231430

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 87.9%

Validation Efficiency

99% (72/73)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921507P07Rik	T	A	6: 50,589,141	K118M	probably damaging	Het
Accsl	A	T	2: 93,866,244		probably benign	Het
Adam30	G	A	3: 98,162,906	S685N	probably benign	Het
Adamts12	T	C	15: 11,071,757	V129A	probably benign	Het
Agxt2	T	C	15: 10,373,751	F81S	probably damaging	Het
Ahnak2	A	T	12: 112,785,789	I186N	probably damaging	Het
Amz1	A	T	5: 140,751,936		probably null	Het
Anapc5	G	A	5: 122,788,418	A619V	possibly damaging	Het
Bbox1	T	C	2: 110,265,611	D336G	probably damaging	Het
Bivm	A	G	1: 44,126,782	T131A	probably benign	Het
Bpi	A	T	2: 158,267,740	I203F	probably benign	Het
Cd151	A	C	7: 141,470,656	T241P	probably damaging	Het
Cdh23	G	A	10: 60,312,392		probably benign	Het
Cdh7	G	A	1: 110,061,132	V255I	probably benign	Het
Cul9	C	G	17: 46,522,175	A1326P	probably damaging	Het
Dclre1b	A	C	3: 103,803,876	S240A	probably benign	Het
Ddc	A	C	11: 11,846,634		probably null	Het
Dkk1	T	C	19: 30,547,250	R252G	probably damaging	Het
Dmrtc2	T	A	7: 24,874,313	M191K	possibly damaging	Het
Eml6	A	G	11: 29,749,824	S1771P	possibly damaging	Het
Emx1	T	C	6: 85,188,371		probably benign	Het
Fah	T	C	7: 84,601,136	M1V	probably null	Het
Fmo6	A	T	1: 162,926,141	M144K	probably damaging	Het
Frem1	A	G	4: 82,950,352	V1445A	probably benign	Het
Fsd2	T	C	7: 81,559,770	D108G	probably benign	Het
Gfm2	A	G	13: 97,165,200		probably null	Het
Ghrhr	T	A	6: 55,388,269	L416*	probably null	Het
Glipr1l2	C	A	10: 112,083,466	L31I	possibly damaging	Het
Gm19965	T	A	1: 116,820,820		probably benign	Het
Gpr149	A	G	3: 62,604,467	L37P	probably damaging	Het
Hoxa9	A	G	6: 52,225,713	I131T	probably damaging	Het
Htra4	T	C	8: 25,030,619	D342G	possibly damaging	Het
Idh1	G	T	1: 65,161,160	N348K	probably benign	Het
Impdh2	T	C	9: 108,561,829	F99S	probably benign	Het
Kank4	T	C	4: 98,765,569	Y874C	probably damaging	Het
Kazn	A	T	4: 142,159,038		probably benign	Het
Kcnq3	T	A	15: 66,000,042	T593S	probably benign	Het
Lamc1	T	C	1: 153,247,231		probably benign	Het
Magi3	A	G	3: 104,061,630		probably null	Het
Map3k19	A	G	1: 127,823,880	V578A	probably benign	Het
Meox2	T	C	12: 37,109,152	C108R	possibly damaging	Het
Nlrp9c	C	A	7: 26,380,435	C722F	probably damaging	Het
Olfr448	T	C	6: 42,897,351	V300A	probably benign	Het
Ppfia4	A	G	1: 134,332,283		probably benign	Het
Psg18	T	C	7: 18,354,817	M1V	probably null	Het
Qtrt1	A	G	9: 21,412,486	T136A	probably benign	Het
Retsat	T	C	6: 72,603,651		probably benign	Het
Rxfp2	T	C	5: 150,051,556	V210A	probably benign	Het
Sfswap	G	A	5: 129,507,143		probably null	Het
Slc16a7	A	T	10: 125,231,372	L133I	possibly damaging	Het
Slc30a3	A	T	5: 31,086,810	M376K	probably damaging	Het
Srbd1	C	T	17: 86,098,512	C620Y	probably null	Het
Svs1	C	A	6: 48,990,239	P707H	probably damaging	Het
Trip10	T	A	17: 57,253,363	L100Q	probably damaging	Het
Tyrp1	C	T	4: 80,844,868	Q331*	probably null	Het
Vangl2	G	T	1: 172,004,786	T501N	probably damaging	Het
Vdr	A	T	15: 97,869,333	Y185N	probably benign	Het
Vmn1r123	C	T	7: 21,162,332	P50S	probably damaging	Het
Vmn1r158	T	A	7: 22,790,445	H113L	probably benign	Het
Vmn2r12	A	T	5: 109,092,854	I131N	probably benign	Het
Vmn2r72	T	A	7: 85,751,944	E89V	probably damaging	Het
Xrcc6	A	G	15: 82,031,163	D94G	probably damaging	Het
Zbtb32	T	A	7: 30,591,267	E201V	possibly damaging	Het
Zfp185	A	T	X: 72,999,323	E138D	possibly damaging	Het
Zmynd11	T	A	13: 9,689,549	H437L	probably damaging	Het

Other mutations in Pde10a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01534:Pde10a	APN	17	8944970	missense	probably damaging	1.00
IGL01762:Pde10a	APN	17	8942918	missense	possibly damaging	0.74
IGL01814:Pde10a	APN	17	8929107	start codon destroyed	probably null	0.00
IGL02053:Pde10a	APN	17	8974769	missense	probably damaging	1.00
IGL02386:Pde10a	APN	17	8953804	missense	possibly damaging	0.93
IGL02573:Pde10a	APN	17	8961890	missense	probably benign	0.38
IGL02583:Pde10a	APN	17	8981630	missense	probably benign	0.23
IGL02649:Pde10a	APN	17	8953772	missense	probably damaging	1.00
IGL02992:Pde10a	APN	17	8949461	missense	probably damaging	0.97
IGL03109:Pde10a	APN	17	8929214	critical splice donor site	probably null
brautigam	UTSW	17	8964677	missense	possibly damaging	0.78
Bride	UTSW	17	8949430	missense	possibly damaging	0.60
buzzed	UTSW	17	8930537	missense	probably damaging	1.00
Gracile	UTSW	17	8961920	missense	possibly damaging	0.63
Nubile	UTSW	17	8967462	missense	probably damaging	1.00
thunderball	UTSW	17	8969589	missense	probably damaging	1.00
R0004:Pde10a	UTSW	17	8981576	missense	probably benign	0.00
R0015:Pde10a	UTSW	17	8977197	missense	probably damaging	1.00
R0015:Pde10a	UTSW	17	8977197	missense	probably damaging	1.00
R0650:Pde10a	UTSW	17	8942965	missense	probably damaging	1.00
R1386:Pde10a	UTSW	17	8953742	missense	probably damaging	1.00
R1458:Pde10a	UTSW	17	8964708	missense	probably damaging	0.98
R1598:Pde10a	UTSW	17	8929144	missense	probably damaging	1.00
R1661:Pde10a	UTSW	17	8898870	missense	probably damaging	1.00
R1665:Pde10a	UTSW	17	8898870	missense	probably damaging	1.00
R1883:Pde10a	UTSW	17	8978944	missense	possibly damaging	0.86
R1960:Pde10a	UTSW	17	8942918	missense	possibly damaging	0.74
R2005:Pde10a	UTSW	17	8929091	critical splice acceptor site	probably null
R2071:Pde10a	UTSW	17	8961995	missense	probably benign	0.22
R2121:Pde10a	UTSW	17	8977215	missense	probably damaging	1.00
R2376:Pde10a	UTSW	17	8930537	missense	probably damaging	1.00
R3721:Pde10a	UTSW	17	8969589	missense	probably damaging	1.00
R3872:Pde10a	UTSW	17	8757091	missense	possibly damaging	0.92
R4627:Pde10a	UTSW	17	8981652	missense	probably damaging	1.00
R4652:Pde10a	UTSW	17	8757053	missense	possibly damaging	0.82
R5107:Pde10a	UTSW	17	8944970	missense	probably damaging	1.00
R5184:Pde10a	UTSW	17	8977155	missense	probably damaging	1.00
R5354:Pde10a	UTSW	17	8961980	missense	probably damaging	0.97
R5735:Pde10a	UTSW	17	8941192	missense	probably damaging	0.99
R5878:Pde10a	UTSW	17	8949372	missense	possibly damaging	0.85
R5921:Pde10a	UTSW	17	8930537	missense	probably damaging	1.00
R6027:Pde10a	UTSW	17	8964677	missense	possibly damaging	0.78
R6145:Pde10a	UTSW	17	8929117	missense	probably damaging	1.00
R6279:Pde10a	UTSW	17	8978957	missense	probably damaging	0.99
R6409:Pde10a	UTSW	17	8949438	missense	probably damaging	1.00
R6870:Pde10a	UTSW	17	8967524	missense	possibly damaging	0.56
R6947:Pde10a	UTSW	17	8969592	missense	probably damaging	1.00
R7072:Pde10a	UTSW	17	8943026	missense	probably benign	0.40
R7084:Pde10a	UTSW	17	8941162	missense	probably benign	0.25
R7294:Pde10a	UTSW	17	8757021	missense	probably benign
R7339:Pde10a	UTSW	17	8757028	missense	probably benign	0.01
R7347:Pde10a	UTSW	17	8967462	missense	probably damaging	1.00
R7373:Pde10a	UTSW	17	8942992	missense	probably benign	0.00
R7481:Pde10a	UTSW	17	8949430	missense	possibly damaging	0.60
R7833:Pde10a	UTSW	17	8961920	missense	possibly damaging	0.63
R7923:Pde10a	UTSW	17	8929132	missense	probably benign	0.40
R8053:Pde10a	UTSW	17	8974772	missense	probably benign	0.12
R8137:Pde10a	UTSW	17	8974815	missense	possibly damaging	0.90
R8722:Pde10a	UTSW	17	8944940	missense	probably benign	0.01
R8918:Pde10a	UTSW	17	8941231	missense	possibly damaging	0.65
R8973:Pde10a	UTSW	17	8924239	missense	probably benign
R9113:Pde10a	UTSW	17	8978950	missense	probably benign
R9163:Pde10a	UTSW	17	8962959	missense	possibly damaging	0.89
R9275:Pde10a	UTSW	17	8981656	makesense	probably null
R9563:Pde10a	UTSW	17	8801878	missense	unknown
R9641:Pde10a	UTSW	17	8978984	missense
R9660:Pde10a	UTSW	17	8951538	missense	probably damaging	0.99
R9670:Pde10a	UTSW	17	8801440	missense	unknown

Predicted Primers

Posted On

2014-01-15