Mutagenetix > Incidental Mutation

Incidental Mutation 'R3872:Pde10a'

474305

Institutional Source

Beutler Lab

Gene Symbol

Pde10a

Ensembl Gene

ENSMUSG00000023868

Gene Name

phosphodiesterase 10A

Synonyms

MMRRC Submission

040790-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3872 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

8525372-8986648 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 8757091 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 16 (T16K)

Ref Sequence

ENSEMBL: ENSMUSP00000111387 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115715] [ENSMUST00000115722] [ENSMUST00000115724]

AlphaFold

no structure available at present

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

possibly damaging
Transcript: ENSMUST00000115722
AA Change: T16K

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000115724
AA Change: T76K

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000111389
Gene: ENSMUSG00000023868
AA Change: T76K

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.7%

Validation Efficiency

98% (61/62)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 120,010,219	E1117G	possibly damaging	Het
Abca5	T	A	11: 110,310,233	Y447F	probably damaging	Het
Akap12	G	A	10: 4,357,590	V1467I	probably benign	Het
Baz2a	T	A	10: 128,124,110	M1419K	probably damaging	Het
BC055324	A	T	1: 163,986,964	S137T	probably damaging	Het
Bhmt-ps1	T	C	4: 26,369,201		noncoding transcript	Het
Cabcoco1	T	C	10: 68,516,278	Y68C	probably damaging	Het
Car12	C	A	9: 66,717,552		probably benign	Het
Cic	T	C	7: 25,271,699	V285A	possibly damaging	Het
Col19a1	A	G	1: 24,575,327		probably benign	Het
Col6a4	T	C	9: 106,013,659	N1812S	possibly damaging	Het
Cry1	T	C	10: 85,133,160		probably null	Het
Dlgap4	T	C	2: 156,749,347	S818P	probably benign	Het
Dlx5	G	T	6: 6,878,209	P274T	probably benign	Het
Dnah2	A	G	11: 69,429,348	I3965T	probably damaging	Het
Dnah5	A	G	15: 28,411,510	K3675R	possibly damaging	Het
Dpp6	A	G	5: 27,721,058	Y710C	probably damaging	Het
Dsc3	C	A	18: 19,971,508	K587N	probably damaging	Het
Epcam	C	A	17: 87,639,926	T36K	possibly damaging	Het
Epha2	T	C	4: 141,308,405	W51R	probably damaging	Het
Eya4	A	T	10: 23,155,972	I251N	probably damaging	Het
Fbxo21	G	A	5: 118,000,329	V447I	possibly damaging	Het
Frg2f1	T	A	4: 119,530,958	T115S	possibly damaging	Het
Gm8332	T	C	12: 88,249,706	D132G	unknown	Het
Hecw2	A	T	1: 53,832,757		probably benign	Het
Igfals	G	A	17: 24,881,605	V557I	possibly damaging	Het
Iqca	A	T	1: 90,089,481	Y411N	probably damaging	Het
Itpa	T	G	2: 130,681,010	S176A	probably damaging	Het
Klhl1	A	G	14: 96,518,179	F47L	probably benign	Het
Krt26	T	C	11: 99,334,744	K304E	probably damaging	Het
Krt34	T	C	11: 100,041,417	H27R	probably benign	Het
Mia3	T	C	1: 183,356,998	E791G	probably benign	Het
Mroh2b	A	T	15: 4,925,061	K669*	probably null	Het
Msmo1	C	T	8: 64,722,463		probably null	Het
Muc6	T	C	7: 141,640,600	T1387A	probably benign	Het
Myo1g	C	T	11: 6,514,886	V463I	possibly damaging	Het
Olfr101	T	A	17: 37,299,979	T148S	probably benign	Het
Olfr1156	T	A	2: 87,949,530	R234S	probably damaging	Het
Olfr1310	T	C	2: 112,008,323	T288A	possibly damaging	Het
Olfr192	G	A	16: 59,098,761	T77I	unknown	Het
Pfas	T	C	11: 69,000,263	T310A	probably damaging	Het
Phb2	G	A	6: 124,716,431		probably null	Het
Plin3	A	G	17: 56,284,181	S200P	probably damaging	Het
Plxna1	C	A	6: 89,332,692	E1087*	probably null	Het
Rnf17	G	T	14: 56,475,413	R779L	possibly damaging	Het
Sacs	C	T	14: 61,148,068	T6M	probably benign	Het
Scfd1	A	G	12: 51,392,196	Y147C	probably damaging	Het
Sept1	T	C	7: 127,215,275		probably benign	Het
Sept5	A	G	16: 18,622,973	L344P	probably damaging	Het
Sgsh	A	G	11: 119,350,947	L111P	probably damaging	Het
Slc35f1	A	G	10: 53,021,910	D139G	possibly damaging	Het
Sod3	A	G	5: 52,368,289	Y110C	probably damaging	Het
Stk35	T	C	2: 129,810,575	V332A	possibly damaging	Het
Tacc2	C	T	7: 130,622,422	T279M	probably benign	Het
Tdo2	T	C	3: 81,968,086	E187G	probably benign	Het
Tmem150b	A	T	7: 4,724,361	Y48*	probably null	Het
Usp34	C	T	11: 23,489,033	P3532S	possibly damaging	Het
Vmn2r60	C	T	7: 42,136,454	S227L	probably benign	Het
Vps33a	C	T	5: 123,531,192	V549I	probably benign	Het
Zfp788	T	A	7: 41,649,444	Y449*	probably null	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
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

2017-04-14