Mutagenetix > Incidental Mutation

Incidental Mutation 'R7084:Pde10a'

549786

Institutional Source

Beutler Lab

Gene Symbol

Pde10a

Ensembl Gene

ENSMUSG00000023868

Gene Name

phosphodiesterase 10A

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7084 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8525372-8986648 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 8941162 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 140 (P140S)

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

possibly damaging
Transcript: ENSMUST00000024647
AA Change: P60S

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000024647
Gene: ENSMUSG00000023868
AA Change: P60S

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: P140S

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000086485
Gene: ENSMUSG00000023868
AA Change: P140S

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

possibly damaging
Transcript: ENSMUST00000115715
AA Change: P60S

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000111380
Gene: ENSMUSG00000023868
AA Change: P60S

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
AA Change: T123I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000115720
AA Change: P123S

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

SMART Domains

Protein: ENSMUSP00000111385
Gene: ENSMUSG00000023868
AA Change: P123S

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: P194S

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000111389
Gene: ENSMUSG00000023868
AA Change: P194S

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: P71S

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000123216
Gene: ENSMUSG00000023868
AA Change: P71S

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 damaging
Transcript: ENSMUST00000231430
AA Change: P422S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (81/82)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	A	T	13: 119,488,185	D8E	unknown	Het
4931440F15Rik	G	T	11: 29,825,009	H149Q	probably damaging	Het
Abca5	T	A	11: 110,301,545	I714L	probably benign	Het
Abce1	T	A	8: 79,699,414	S245C	probably benign	Het
Abcg1	T	A	17: 31,106,131	D310E	probably benign	Het
Adhfe1	T	A	1: 9,566,805	I394N	probably benign	Het
Apob	A	T	12: 8,009,591	D2691V	probably benign	Het
Arhgap18	A	G	10: 26,872,738	T340A	possibly damaging	Het
Arsb	A	T	13: 93,940,616	Q497L	probably benign	Het
Asic5	T	C	3: 82,012,011	I354T	probably benign	Het
Atp6v0a1	T	C	11: 101,034,042	C318R	probably damaging	Het
Cftr	T	C	6: 18,226,138	Y362H	probably benign	Het
Crip3	T	C	17: 46,430,790	Y113H	probably benign	Het
Dcaf4	AT	A	12: 83,537,797		probably null	Het
Dock10	T	A	1: 80,503,856	I475F		Het
Dqx1	T	A	6: 83,066,455	Y674N	probably damaging	Het
Dync2h1	G	T	9: 7,113,214	Q2437K	possibly damaging	Het
Ednra	A	T	8: 77,665,105	C385*	probably null	Het
Fam216a	G	A	5: 122,369,560	T68I	probably benign	Het
Fbxw22	A	G	9: 109,404,223	L14P	probably damaging	Het
Fkbp10	A	G	11: 100,421,303	I230V	possibly damaging	Het
Ggn	C	A	7: 29,172,998	A637E	probably damaging	Het
Gm156	C	A	6: 129,766,710	A204S	possibly damaging	Het
Hcrtr2	T	C	9: 76,230,660	D391G	probably benign	Het
Heatr5b	A	T	17: 78,810,563	V817D	possibly damaging	Het
Il1f10	G	A	2: 24,293,670	W120*	probably null	Het
Irf5	C	A	6: 29,535,877	R297S	probably damaging	Het
Jak2	A	G	19: 29,286,398	T438A	possibly damaging	Het
Jsrp1	T	C	10: 80,808,576	D332G	possibly damaging	Het
Kank4	A	T	4: 98,771,345	V832D	probably damaging	Het
Kcnip3	C	T	2: 127,510,936	S25N	probably benign	Het
Klk1b16	C	T	7: 44,139,486	H48Y	probably benign	Het
Krtap5-4	G	A	7: 142,303,872	C93Y	unknown	Het
Lacc1	T	A	14: 77,029,656	Q389L	probably benign	Het
Lin9	C	A	1: 180,688,096	T477K	probably benign	Het
Lpar2	A	T	8: 69,823,606	N15I	probably damaging	Het
Ltbp2	C	A	12: 84,868,685	C200F	probably damaging	Het
Mall	G	T	2: 127,708,873	H122Q	probably benign	Het
Mast3	T	C	8: 70,779,473	I1287V	probably benign	Het
Mindy4	T	C	6: 55,278,235	I566T	probably benign	Het
Mme	T	C	3: 63,328,217	Y195H	probably damaging	Het
Mpzl1	T	C	1: 165,604,698	T173A	probably benign	Het
Mri1	G	T	8: 84,251,079	T209N		Het
Myo1e	A	G	9: 70,337,801	I394V	probably damaging	Het
Nat14	T	C	7: 4,924,330	V167A	possibly damaging	Het
Nfasc	A	G	1: 132,570,509	Y1212H	unknown	Het
Nsun7	T	A	5: 66,295,421	L493Q	probably damaging	Het
Obsl1	A	T	1: 75,487,750	S1637R	probably benign	Het
Ocstamp	A	T	2: 165,398,037	Y76*	probably null	Het
Olfr1443	A	C	19: 12,680,834	H242P	probably damaging	Het
Olfr769	T	A	10: 129,111,547	K293*	probably null	Het
Olfr917	G	A	9: 38,665,269	R192C	probably benign	Het
Otog	T	A	7: 46,298,566	C145*	probably null	Het
Padi6	T	A	4: 140,741,558	K5*	probably null	Het
Pcdha5	T	A	18: 36,961,562	S375T	probably benign	Het
Pgbd1	C	G	13: 21,423,130	C298S	possibly damaging	Het
Plch2	C	T	4: 154,986,991	G977D	probably benign	Het
Pou2f3	T	C	9: 43,128,893	T367A	probably damaging	Het
Ppm1j	T	A	3: 104,784,960	Y352N	probably damaging	Het
Prkag2	T	C	5: 25,021,969	T97A	probably benign	Het
Rpl36a-ps1	T	A	14: 98,994,224	Y26F	probably benign	Het
Sctr	A	T	1: 120,063,271	N445Y	possibly damaging	Het
Serping1	C	T	2: 84,773,491	V69I	probably benign	Het
Slc8a2	T	A	7: 16,145,038	L483Q	probably benign	Het
Spag17	T	C	3: 99,939,270	F37L	probably benign	Het
Srrm2	T	A	17: 23,820,316	M1978K	probably damaging	Het
Tcp11	T	C	17: 28,067,021	Q540R	probably benign	Het
Thnsl1	G	T	2: 21,212,330	R298S	possibly damaging	Het
Tigd5	T	A	15: 75,910,381	Y197*	probably null	Het
Tmprss11g	A	T	5: 86,492,200	L203Q	probably damaging	Het
Trim35	T	A	14: 66,308,822	V346E	probably damaging	Het
Ttn	T	C	2: 76,768,364	I19402V	possibly damaging	Het
Ttn	C	T	2: 76,919,345	E3787K	probably benign	Het
Tut1	G	A	19: 8,965,414	V622I	probably benign	Het
Vmn1r2	A	G	4: 3,172,134	I18V	probably benign	Het
Zbbx	T	C	3: 75,139,546	N22S	possibly damaging	Het
Zfp169	A	C	13: 48,498,863	M26R	probably benign	Het
Zfp180	T	A	7: 24,105,261	H368Q	probably damaging	Het
Zfp638	T	A	6: 83,953,126	S770T	possibly damaging	Het
Znrf1	T	C	8: 111,537,142	M1T	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
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
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'- TTCATGTTAGGCTCCAGGC -3'
(R):5'- TAATCAGGAGACAACTTGAATGGC -3'

Sequencing Primer
(F):5'- CTGCCCCCTGTGAAGACC -3'
(R):5'- ACCCCAAGGATATCCTCTAC -3'

Posted On

2019-05-15