Mutagenetix > Incidental Mutations

Incidental Mutation 'R7373:Pde10a'

572246

Institutional Source

Beutler Lab

Gene Symbol

Pde10a

Ensembl Gene

ENSMUSG00000023868

Gene Name

phosphodiesterase 10A

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7373 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8525372-8986648 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8942992 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 220 (W220R)

Ref Sequence

ENSEMBL: ENSMUSP00000086485 (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

probably benign
Transcript: ENSMUST00000024647
AA Change: W140R

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000024647
Gene: ENSMUSG00000023868
AA Change: W140R

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: W220R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000086485
Gene: ENSMUSG00000023868
AA Change: W220R

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: ENSMUST00000115708

SMART Domains

Protein: ENSMUSP00000111373
Gene: ENSMUSG00000023868

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

Predicted Effect

probably benign
Transcript: ENSMUST00000115715
AA Change: W140R

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000111380
Gene: ENSMUSG00000023868
AA Change: W140R

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
AA Change: W203R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000111385
Gene: ENSMUSG00000023868
AA Change: W203R

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: ENSMUST00000115724
AA Change: W274R

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000111389
Gene: ENSMUSG00000023868
AA Change: W274R

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

probably benign
Transcript: ENSMUST00000149440
AA Change: W151R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000123216
Gene: ENSMUSG00000023868
AA Change: W151R

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
AA Change: W502R

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (57/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	G	A	11: 50,795,435	A1027T	probably benign	Het
Aldh7a1	G	A	18: 56,542,317	T260M	possibly damaging	Het
Anks3	T	C	16: 4,955,871	Y187C	probably benign	Het
Atp2c2	A	T	8: 119,730,252	I198F	probably benign	Het
Bsn	T	C	9: 108,113,484	T1690A	probably damaging	Het
Catsper3	T	C	13: 55,808,132	I350T	possibly damaging	Het
Cdcp1	C	T	9: 123,177,900	R594H	probably damaging	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Cldn1	G	T	16: 26,360,856	P154T	probably damaging	Het
Cntnap5a	A	T	1: 116,580,637	N1293I	probably benign	Het
Cpsf4l	C	T	11: 113,699,831		probably null	Het
Crybg1	T	C	10: 44,004,140	T351A	probably benign	Het
Csmd1	T	C	8: 15,992,713	N2340S	probably damaging	Het
Dennd4a	C	A	9: 64,897,269	Q1297K	probably benign	Het
Dll3	A	G	7: 28,294,632	V460A	probably benign	Het
Dnah8	T	C	17: 30,767,965		probably null	Het
Dst	G	T	1: 34,188,391	L1688F	probably benign	Het
Ehmt1	A	G	2: 24,919,573	M1T	probably null	Het
Fasn	A	T	11: 120,813,976	L1261Q	possibly damaging	Het
Fat1	A	G	8: 45,026,665	D2916G	probably damaging	Het
Fgfr3	C	A	5: 33,727,690	F49L	probably benign	Het
Hlx	T	C	1: 184,730,865	T197A	probably benign	Het
Hormad1	A	T	3: 95,576,317	T147S	probably damaging	Het
Igf1r	T	A	7: 68,195,078	Y866*	probably null	Het
Itgb8	A	G	12: 119,202,475	V107A	probably benign	Het
Kat2a	C	T	11: 100,708,566	A533T	probably benign	Het
Kif20b	T	C	19: 34,935,671	L328P	probably damaging	Het
Lims1	T	C	10: 58,409,620	F157S	probably damaging	Het
Lrp2	G	T	2: 69,500,692	H1673Q	probably damaging	Het
Lrrc46	C	A	11: 97,038,880	M43I	probably benign	Het
Lrrk2	T	C	15: 91,700,004		probably null	Het
Meox2	A	T	12: 37,108,798		probably benign	Het
Mff	A	G	1: 82,737,117		probably null	Het
Mfsd5	T	A	15: 102,280,992	F266L	probably damaging	Het
Miga2	A	G	2: 30,382,071	T468A	probably damaging	Het
Mmel1	T	A	4: 154,889,208	L316Q	not run	Het
Ndufa9	C	A	6: 126,834,458	G232C	probably damaging	Het
Obox2	A	T	7: 15,397,220	K84*	probably null	Het
Olfr1311	T	A	2: 112,021,442	R137S	probably benign	Het
Olfr33	T	A	7: 102,714,099	I105F	possibly damaging	Het
Otogl	G	T	10: 107,901,251	Q101K	probably damaging	Het
Pcnx2	C	T	8: 125,808,027	V1288M	probably damaging	Het
Recql5	T	C	11: 115,928,372	T123A	possibly damaging	Het
Rpl28	T	C	7: 4,793,603	V61A	probably benign	Het
Secisbp2l	A	T	2: 125,757,271	M494K	probably damaging	Het
Sh3bgr	G	A	16: 96,205,835	E2K	unknown	Het
Shcbp1l	C	A	1: 153,425,240	T6K	probably benign	Het
Slc22a15	A	C	3: 101,877,897	L353R	possibly damaging	Het
Sqle	T	C	15: 59,317,809	I100T	probably benign	Het
Tas2r106	A	T	6: 131,678,354	L178H	probably damaging	Het
Tll1	A	T	8: 64,051,357	N668K	probably damaging	Het
Tm7sf2	A	G	19: 6,066,646	S118P	probably benign	Het
Tmco5	G	T	2: 116,886,745	V169L	probably benign	Het
Trpv1	A	G	11: 73,240,673	K346E	probably damaging	Het
Ttk	G	A	9: 83,854,877	R463H	probably benign	Het
Vmn2r120	G	T	17: 57,509,406	L650I	probably benign	Het
Vmn2r58	C	T	7: 41,837,788	C561Y	probably damaging	Het
Vmn2r-ps117	A	T	17: 18,824,686	Q455L	probably benign	Het
Zfr	T	A	15: 12,140,559	S231T	unknown	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGACACTGGCATCCACTGAG -3'
(R):5'- ACAGCTGCTCAAGAGAACAG -3'

Sequencing Primer
(F):5'- CTGGCATCCACTGAGTATGCATG -3'
(R):5'- GCTGCTCAAGAGAACAGGTTTTTAAG -3'

Posted On

2019-09-13