Mutagenetix > Incidental Mutation

Incidental Mutation 'R1883:Pde10a'

209312

Institutional Source

Beutler Lab

Gene Symbol

Pde10a

Ensembl Gene

ENSMUSG00000023868

Gene Name

phosphodiesterase 10A

Synonyms

MMRRC Submission

039904-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1883 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8525372-8986648 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 8978944 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 671 (T671S)

Ref Sequence

ENSEMBL: ENSMUSP00000123216 (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: T660S

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000024647
Gene: ENSMUSG00000023868
AA Change: T660S

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: T740S

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000086485
Gene: ENSMUSG00000023868
AA Change: T740S

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: T456S

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000111373
Gene: ENSMUSG00000023868
AA Change: T456S

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: T660S

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000111380
Gene: ENSMUSG00000023868
AA Change: T660S

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: T723S

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000111385
Gene: ENSMUSG00000023868
AA Change: T723S

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: T794S

PolyPhen 2 Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000111389
Gene: ENSMUSG00000023868
AA Change: T794S

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: T671S

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123216
Gene: ENSMUSG00000023868
AA Change: T671S

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: T1022S

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921507P07Rik	T	C	6: 50,574,453	T339A	probably benign	Het
Ano9	T	C	7: 141,102,331	E677G	probably benign	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
Brs3	T	C	X: 57,047,089	I311T	probably benign	Het
Capn9	A	G	8: 124,611,558	K552R	probably benign	Het
Catsperg1	C	T	7: 29,182,236		probably null	Het
Cdc16	A	G	8: 13,775,738	N449D	probably damaging	Het
Cdyl2	A	T	8: 116,595,163	N208K	probably damaging	Het
Cnot4	C	T	6: 35,078,157	V66I	probably damaging	Het
Cntn4	A	G	6: 106,679,392	T885A	probably benign	Het
Col20a1	C	T	2: 180,992,910	T131I	possibly damaging	Het
Crybg2	C	A	4: 134,074,283	S918*	probably null	Het
Dact2	A	T	17: 14,197,823	S207T	possibly damaging	Het
Dbnl	G	A	11: 5,799,247	G356E	probably benign	Het
Ddx18	C	A	1: 121,567,916		probably benign	Het
Dis3	A	T	14: 99,091,469	H282Q	probably benign	Het
Dnah3	T	C	7: 120,077,919	D453G	probably benign	Het
Dst	T	C	1: 34,189,308	V1994A	possibly damaging	Het
Dusp8	C	T	7: 142,084,348		probably null	Het
Eipr1	A	T	12: 28,766,851	H69L	possibly damaging	Het
Eml1	A	G	12: 108,463,652	R65G	probably damaging	Het
Epha7	C	T	4: 28,950,362	H722Y	possibly damaging	Het
Epyc	A	T	10: 97,675,833	K229N	possibly damaging	Het
Extl1	A	G	4: 134,364,606	I312T	probably benign	Het
F13a1	G	C	13: 36,989,007	A133G	probably benign	Het
Fam185a	G	T	5: 21,425,244	C26F	possibly damaging	Het
Fam186b	T	C	15: 99,278,798	N737S	probably damaging	Het
Fam78b	A	G	1: 167,001,602	I13V	probably benign	Het
Fat1	A	T	8: 45,051,147	Q4559L	probably benign	Het
Fnip1	T	C	11: 54,515,547	S1157P	probably damaging	Het
Foxj3	A	C	4: 119,610,029	M190L	probably benign	Het
Gm5096	T	C	18: 87,756,545	L64P	probably damaging	Het
Heatr3	T	C	8: 88,144,593	Y192H	possibly damaging	Het
Hexdc	T	A	11: 121,207,698	S3T	probably benign	Het
Klf3	C	T	5: 64,822,881	P5S	probably damaging	Het
Klf9	C	T	19: 23,164,737	S187L	probably damaging	Het
Krt9	T	C	11: 100,188,697	H623R	unknown	Het
Krtap2-4	G	C	11: 99,614,679		probably benign	Het
Lmtk3	T	C	7: 45,786,849	Y84H	probably damaging	Het
Mroh3	G	T	1: 136,206,993	A166D	probably damaging	Het
Musk	C	A	4: 58,373,189	P697T	probably benign	Het
Nek9	A	G	12: 85,332,556	L192P	probably damaging	Het
Nipbl	A	C	15: 8,327,132	F1590C	probably damaging	Het
Nrk	G	T	X: 139,007,173	V1455F	probably damaging	Het
Nsun3	T	C	16: 62,735,293	D290G	probably damaging	Het
Obscn	T	C	11: 59,078,203	T222A	probably damaging	Het
Olfr446	T	C	6: 42,927,830	S200P	probably damaging	Het
Olfr583	T	C	7: 103,051,982	I228T	probably benign	Het
Olfr6	T	C	7: 106,956,774	H54R	probably benign	Het
Osbpl11	T	G	16: 33,214,353	H237Q	probably benign	Het
Pkd2	A	T	5: 104,483,228	N506I	probably damaging	Het
Ppp3cb	A	G	14: 20,523,845	V274A	possibly damaging	Het
Prex1	T	C	2: 166,583,272	D938G	probably benign	Het
Ptch1	G	A	13: 63,512,027	Q1134*	probably null	Het
Rasgrf2	A	G	13: 91,969,030	V820A	probably benign	Het
Rimbp2	C	T	5: 128,803,934	V137M	possibly damaging	Het
Rpa1	A	G	11: 75,318,483	V137A	probably benign	Het
Rps6ka1	A	C	4: 133,864,043	I299S	probably damaging	Het
Scn3b	A	C	9: 40,279,373		probably null	Het
Sdha	A	T	13: 74,333,136	I317N	probably damaging	Het
Serpina1d	T	A	12: 103,765,778	D274V	possibly damaging	Het
Sik3	C	G	9: 46,221,089	H1276Q	probably benign	Het
Snx14	T	A	9: 88,402,261	E451D	probably benign	Het
Swt1	T	A	1: 151,423,533	K8*	probably null	Het
Tas1r3	G	T	4: 155,862,153	P332T	probably damaging	Het
Tas2r126	A	T	6: 42,435,027	T165S	probably benign	Het
Tecpr1	A	G	5: 144,206,529	V676A	probably benign	Het
Tg	A	G	15: 66,671,309	E24G	probably damaging	Het
Tlr7	C	T	X: 167,306,472	G673S	probably benign	Het
Tnxb	T	A	17: 34,689,565	D1520E	probably benign	Het
Trabd	A	G	15: 89,081,981	E47G	probably damaging	Het
Trim29	T	A	9: 43,311,405	I177N	probably damaging	Het
Ubxn2a	A	T	12: 4,894,563	L53*	probably null	Het
Ulk2	A	G	11: 61,830,612	L208P	probably damaging	Het
Unc80	G	A	1: 66,525,770	C872Y	possibly damaging	Het
Vac14	A	G	8: 110,711,687	H644R	probably damaging	Het
Vmn1r20	C	A	6: 57,432,321	H211N	probably benign	Het
Vmn1r31	C	T	6: 58,472,044	V279I	probably damaging	Het
Vmn2r18	G	T	5: 151,575,725	Q425K	probably benign	Het
Vmn2r60	T	C	7: 42,136,670	V299A	probably damaging	Het
Vps54	A	T	11: 21,312,967	T685S	possibly damaging	Het
Vwa5b1	A	G	4: 138,575,389	W932R	probably damaging	Het
Wdr53	A	T	16: 32,256,498	I174F	possibly damaging	Het
Zfp157	A	G	5: 138,444,840	D31G	probably damaging	Het
Zfp60	T	C	7: 27,750,010	L701P	probably benign	Het
Zfp609	A	T	9: 65,794,758	M204K	probably benign	Het
Zfp831	A	G	2: 174,704,077	H1325R	possibly damaging	Het
Zfp995	A	T	17: 21,880,641	I204N	probably benign	Het
Zp2	C	T	7: 120,133,401	D641N	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
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
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

PCR Primer
(F):5'- CCATGCAGAGGATACAGCAC -3'
(R):5'- TGGCTTTGGGAGAGGACTAC -3'

Sequencing Primer
(F):5'- TGCAGAGGATACAGCACACATACAG -3'
(R):5'- TATCAGAGCAGAAGCATGGGTTTC -3'

Posted On

2014-06-30