Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03109:Pde10a'

419133

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pde10a

Ensembl Gene

ENSMUSG00000023868

Gene Name

phosphodiesterase 10A

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03109

Quality Score

Status

Chromosome

Chromosomal Location

8525372-8986648 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 8929214 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] [ENSMUST00000115724] [ENSMUST00000149440] [ENSMUST00000231430]

AlphaFold

no structure available at present

Predicted Effect

probably null
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 null
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 null
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 null
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 null
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 null
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 null
Transcript: ENSMUST00000231430

Coding Region Coverage

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	T	17: 48,166,460	S96R	probably benign	Het
Abca6	T	A	11: 110,180,347	H1506L	probably damaging	Het
Adgrg1	T	A	8: 95,007,676		probably benign	Het
Ahi1	A	G	10: 20,970,942	T424A	probably benign	Het
Birc6	T	A	17: 74,579,334	S552R	possibly damaging	Het
Bptf	T	C	11: 107,061,701	T2172A	possibly damaging	Het
Commd9	T	C	2: 101,897,170	V103A	probably benign	Het
Ctnnal1	T	A	4: 56,839,045	D216V	probably damaging	Het
Dcbld2	A	G	16: 58,456,402	T519A	probably benign	Het
Dennd6b	T	C	15: 89,184,985		probably benign	Het
Dnah10	A	G	5: 124,764,886	T1369A	probably benign	Het
Ect2	T	C	3: 27,144,972	T222A	possibly damaging	Het
Eef2k	G	A	7: 120,891,726	G523E	probably damaging	Het
Ephb2	T	G	4: 136,771,544	T75P	probably damaging	Het
Exo1	A	T	1: 175,899,560	N479I	probably damaging	Het
Fign	A	G	2: 63,980,662	L88P	possibly damaging	Het
Golgb1	T	A	16: 36,915,611	V1740E	possibly damaging	Het
Icos	A	G	1: 60,997,697		probably benign	Het
Il6ra	C	A	3: 89,876,858	G369*	probably null	Het
Itpr1	A	G	6: 108,417,981	D83G	probably damaging	Het
Kdm2a	A	G	19: 4,329,107	I560T	probably benign	Het
Lrp1	C	T	10: 127,566,645	R2219H	probably benign	Het
Mical3	A	T	6: 121,009,124	C119S	probably damaging	Het
Mipol1	G	A	12: 57,364,224	R267H	probably benign	Het
Myrip	A	T	9: 120,453,724		probably null	Het
Nelfb	G	A	2: 25,201,061	L542F	possibly damaging	Het
Nlrp4b	T	C	7: 10,714,946	C359R	probably damaging	Het
Noxred1	T	A	12: 87,233,438	H40L	probably damaging	Het
Nphp1	A	T	2: 127,768,169		probably benign	Het
Olfr761	C	T	17: 37,952,487	C179Y	probably damaging	Het
Pank3	T	A	11: 35,777,674	F163L	probably benign	Het
Pigc	G	A	1: 161,970,776	R109Q	possibly damaging	Het
Rfc3	A	G	5: 151,643,094	S297P	probably benign	Het
Serinc1	A	T	10: 57,523,069	M246K	probably benign	Het
Slc5a8	C	T	10: 88,906,416		probably benign	Het
Tecrl	A	G	5: 83,309,309		probably benign	Het
Tex14	A	T	11: 87,543,365	E119V	probably damaging	Het
Tmem94	A	G	11: 115,792,398	K669R	probably damaging	Het
Tnfrsf4	C	A	4: 156,015,411	H130Q	probably damaging	Het
Trav18	G	A	14: 53,831,551	A18T	probably benign	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
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
R1173:Pde10a	UTSW	17	8920546	splice site	probably benign
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

Posted On

2016-08-02