Mutagenetix > Incidental Mutations

Incidental Mutation 'R2071:Pde10a'

227179

Institutional Source

Beutler Lab

Gene Symbol

Pde10a

Ensembl Gene

ENSMUSG00000023868

Gene Name

phosphodiesterase 10A

Synonyms

MMRRC Submission

040076-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2071 (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 8961995 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 754 (I754F)

Ref Sequence

ENSEMBL: ENSMUSP00000156356 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000024647
AA Change: I392F

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

SMART Domains

Protein: ENSMUSP00000024647
Gene: ENSMUSG00000023868
AA Change: I392F

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: I472F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000086485
Gene: ENSMUSG00000023868
AA Change: I472F

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
AA Change: I188F

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

SMART Domains

Protein: ENSMUSP00000111373
Gene: ENSMUSG00000023868
AA Change: I188F

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: I392F

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000111380
Gene: ENSMUSG00000023868
AA Change: I392F

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: I455F

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000111385
Gene: ENSMUSG00000023868
AA Change: I455F

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: I526F

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000111389
Gene: ENSMUSG00000023868
AA Change: I526F

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: I403F

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000123216
Gene: ENSMUSG00000023868
AA Change: I403F

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: I754F

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	T	A	1: 57,383,315	H283Q	probably damaging	Het
2810021J22Rik	A	G	11: 58,876,769	K31E	probably damaging	Het
Abcc10	G	C	17: 46,303,565	N1477K	probably benign	Het
Adam33	T	C	2: 131,055,346	T310A	probably benign	Het
Afm	A	G	5: 90,523,735	D92G	probably benign	Het
Arg1	C	T	10: 24,922,663	A30T	probably benign	Het
Ash1l	C	G	3: 88,966,203	P98A	probably damaging	Het
Atad5	A	T	11: 80,098,052		probably null	Het
Atg2a	T	C	19: 6,257,458	V1474A	probably benign	Het
Atp12a	A	G	14: 56,366,009	K24E	probably benign	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
B3gnt4	A	T	5: 123,511,370	H266L	probably benign	Het
Bora	T	C	14: 99,062,278	S229P	probably damaging	Het
C87414	T	G	5: 93,636,516	Q363P	probably damaging	Het
Cdsn	A	T	17: 35,554,694	D40V	probably damaging	Het
Cep295	T	C	9: 15,341,564	R323G	probably damaging	Het
Chek2	T	C	5: 110,841,246		probably benign	Het
Chga	A	T	12: 102,562,863	K366N	probably damaging	Het
Chrm5	T	C	2: 112,479,227	K515E	probably null	Het
Cmtr1	A	G	17: 29,694,783		probably null	Het
Cyr61	C	T	3: 145,648,673	W161*	probably null	Het
Dsg3	T	C	18: 20,536,825	L632S	probably damaging	Het
Fam129a	T	C	1: 151,636,430	F28L	probably damaging	Het
Fzd3	A	G	14: 65,235,563	F252S	probably damaging	Het
Gas2l2	T	C	11: 83,421,949	K846E	probably benign	Het
Gm21761	A	T	13: 119,912,300	D151E	probably benign	Het
Gm8300	T	A	12: 87,517,052	F52L	probably benign	Het
Gpatch11	T	C	17: 78,841,085		probably null	Het
Gucy2g	T	A	19: 55,222,340	Y661F	possibly damaging	Het
Hhip	A	G	8: 80,057,302	F72L	probably benign	Het
Kat14	T	C	2: 144,389,216	L181P	probably damaging	Het
Kifc3	A	T	8: 95,108,353		probably null	Het
Kntc1	G	T	5: 123,794,277		probably null	Het
Man2b1	G	T	8: 85,085,384	V156L	possibly damaging	Het
Mast1	T	C	8: 84,921,194	D517G	probably damaging	Het
Mc1r	T	C	8: 123,408,369	L287P	possibly damaging	Het
Mctp1	A	T	13: 76,759,724	E238V	probably damaging	Het
Mmp12	T	A	9: 7,349,725	I52N	probably damaging	Het
Morc1	C	T	16: 48,592,611	T705I	probably benign	Het
Mrpl24	T	C	3: 87,923,067		probably null	Het
Nap1l1	C	T	10: 111,492,900	T230I	possibly damaging	Het
Nmral1	T	A	16: 4,716,347	I77F	probably damaging	Het
Nudt13	T	A	14: 20,303,977	D36E	probably damaging	Het
Oxsm	A	G	14: 16,241,983	L262P	probably benign	Het
Pdzph1	T	C	17: 58,974,097	R397G	probably benign	Het
Polr1a	T	A	6: 71,976,074	V567E	possibly damaging	Het
Pou3f2	A	G	4: 22,488,076	V19A	probably benign	Het
Pth1r	A	G	9: 110,727,013	I264T	probably benign	Het
Ptprn	C	A	1: 75,255,144	G504C	probably damaging	Het
Rbak	A	G	5: 143,176,584	L8P	probably damaging	Het
Rev3l	T	A	10: 39,824,353	D1615E	probably benign	Het
Rhob	A	G	12: 8,499,232	M134T	probably benign	Het
Slc10a4	T	C	5: 73,007,497	L144P	probably damaging	Het
Slc45a3	T	C	1: 131,977,632	L131P	probably damaging	Het
Slf1	T	A	13: 77,104,624	E259D	probably benign	Het
Slitrk5	A	G	14: 111,680,189	Y415C	probably damaging	Het
Sohlh2	A	G	3: 55,207,622	I343V	probably benign	Het
Sorl1	T	C	9: 41,979,457	D1922G	possibly damaging	Het
Spats2l	T	A	1: 57,940,464	I243N	possibly damaging	Het
Specc1	A	C	11: 62,117,875	K152N	probably damaging	Het
Sv2a	G	A	3: 96,193,875	A730T	possibly damaging	Het
Tars2	C	A	3: 95,747,638	G113C	probably damaging	Het
Tep1	T	C	14: 50,854,282	K601E	probably benign	Het
Tmem8	T	C	17: 26,122,043	Y176H	probably damaging	Het
Trp53	A	G	11: 69,589,632	D278G	probably damaging	Het
Ttc39d	G	A	17: 80,216,601	G230R	probably damaging	Het
Tubb2b	T	A	13: 34,128,261	Y183F	probably damaging	Het
Ubxn7	T	A	16: 32,372,469	C160S	possibly damaging	Het
Vcp	A	G	4: 42,995,894		probably null	Het
Vmn1r201	T	C	13: 22,474,825	F70L	probably benign	Het
Vmn1r49	C	T	6: 90,072,202	V273I	probably benign	Het
Vmn2r103	A	T	17: 19,793,794	I283L	probably benign	Het
Xpr1	T	C	1: 155,290,280	T574A	probably benign	Het
Zfp408	A	G	2: 91,646,018	F364L	probably damaging	Het
Zfyve26	A	G	12: 79,287,446	L266P	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCTAAGGAGGCCCCATTCAC -3'
(R):5'- TACACCCTGGCTGGTCTTTG -3'

Sequencing Primer
(F):5'- GGAGGCCCCATTCACACTCC -3'
(R):5'- TGACTGCCGCCATCCTG -3'

Posted On

2014-09-17