Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02386:Pde10a'

291552

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pde10a

Ensembl Gene

ENSMUSG00000023868

Gene Name

phosphodiesterase 10A

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02386

Quality Score

Status

Chromosome

Chromosomal Location

8525372-8986648 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8953804 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 669 (S669G)

Ref Sequence

ENSEMBL: ENSMUSP00000156356 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024647] [ENSMUST00000089085] [ENSMUST00000115708] [ENSMUST00000115715] [ENSMUST00000115717] [ENSMUST00000115720] [ENSMUST00000115724] [ENSMUST00000149440] [ENSMUST00000231430]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024647
AA Change: S307G

PolyPhen 2 Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000024647
Gene: ENSMUSG00000023868
AA Change: S307G

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
AA Change: S387G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000086485
Gene: ENSMUSG00000023868
AA Change: S387G

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

possibly damaging
Transcript: ENSMUST00000115708
AA Change: S103G

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000111373
Gene: ENSMUSG00000023868
AA Change: S103G

Domain	Start	End	E-Value	Type
GAF	3	148	5.22e-23	SMART
HDc	238	404	9.04e-7	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115715
AA Change: S307G

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000111380
Gene: ENSMUSG00000023868
AA Change: S307G

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

possibly damaging
Transcript: ENSMUST00000115720
AA Change: S370G

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000111385
Gene: ENSMUSG00000023868
AA Change: S370G

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

possibly damaging
Transcript: ENSMUST00000115724
AA Change: S441G

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000111389
Gene: ENSMUSG00000023868
AA Change: S441G

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

possibly damaging
Transcript: ENSMUST00000149440
AA Change: S318G

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000123216
Gene: ENSMUSG00000023868
AA Change: S318G

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

possibly damaging
Transcript: ENSMUST00000231430
AA Change: S669G

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930555F03Rik	G	A	8: 49,500,437		noncoding transcript	Het
Abhd17b	T	C	19: 21,680,899	Y167H	possibly damaging	Het
Ablim1	T	C	19: 57,134,654	D167G	probably damaging	Het
Bpnt1	G	T	1: 185,338,175	K21N	probably damaging	Het
Cables2	A	G	2: 180,261,638	V251A	probably benign	Het
Cyp2b13	T	C	7: 26,086,013	L269P	probably damaging	Het
Dhodh	A	G	8: 109,594,764	I330T	probably damaging	Het
Dnah5	T	A	15: 28,340,381	D2311E	probably damaging	Het
Dph1	T	C	11: 75,183,602	D128G	probably benign	Het
Dsg1c	T	A	18: 20,276,999	I508N	probably benign	Het
Eftud2	T	C	11: 102,851,754		probably null	Het
Fstl4	T	A	11: 52,773,871	H9Q	probably benign	Het
Glra3	A	T	8: 56,089,028	M269L	probably benign	Het
Gpatch8	C	A	11: 102,508,157	R83L	unknown	Het
Gss	A	G	2: 155,573,170	V205A	probably benign	Het
Ifi30	A	G	8: 70,764,760		probably benign	Het
Itch	T	A	2: 155,202,261	Y495*	probably null	Het
Lilrb4a	C	T	10: 51,491,226	Q22*	probably null	Het
Mest	T	C	6: 30,744,914	F201S	possibly damaging	Het
Myh8	T	A	11: 67,294,440	I839N	probably damaging	Het
Myo7a	C	T	7: 98,075,112	G1122E	probably damaging	Het
Ntan1	T	A	16: 13,835,199	M273K	probably benign	Het
Numa1	A	G	7: 102,007,532	K1548R	probably benign	Het
Obsl1	A	G	1: 75,492,517	V1260A	probably damaging	Het
Olfr1258	T	C	2: 89,930,544	V245A	probably damaging	Het
Olfr1271	T	A	2: 90,265,951	I160F	probably damaging	Het
Ppargc1b	T	C	18: 61,323,151	D79G	probably damaging	Het
Rnf103	A	G	6: 71,509,218	T278A	probably benign	Het
Slc22a4	C	A	11: 53,988,772		probably benign	Het
Snx25	A	T	8: 46,041,349	M833K	possibly damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Susd2	A	T	10: 75,640,095	Y357N	probably damaging	Het
Syne4	C	A	7: 30,316,234	S91Y	possibly damaging	Het
Tgfbrap1	C	A	1: 43,075,821	G40C	probably damaging	Het
Tial1	A	G	7: 128,448,345	S94P	probably damaging	Het
Tle3	A	G	9: 61,394,659	T117A	possibly damaging	Het
Usp48	A	C	4: 137,604,523	R73S	possibly damaging	Het
Utrn	G	T	10: 12,421,608	D685E	possibly 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
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
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
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

Posted On

2015-04-16