Mutagenetix > Incidental Mutation

Incidental Mutation 'R1598:Pde10a'

175984

Institutional Source

Beutler Lab

Gene Symbol

Pde10a

Ensembl Gene

ENSMUSG00000023868

Gene Name

phosphodiesterase 10A

Synonyms

MMRRC Submission

039635-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1598 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8525372-8986648 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8929144 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 147 (E147G)

Ref Sequence

ENSEMBL: ENSMUSP00000111389 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000024647
AA Change: E13G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000024647
Gene: ENSMUSG00000023868
AA Change: E13G

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 damaging
Transcript: ENSMUST00000089085
AA Change: E93G

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000086485
Gene: ENSMUSG00000023868
AA Change: E93G

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 damaging
Transcript: ENSMUST00000115715
AA Change: E13G

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000111380
Gene: ENSMUSG00000023868
AA Change: E13G

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 damaging
Transcript: ENSMUST00000115717
AA Change: E93G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000115720
AA Change: E76G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000111385
Gene: ENSMUSG00000023868
AA Change: E76G

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 damaging
Transcript: ENSMUST00000115724
AA Change: E147G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111389
Gene: ENSMUSG00000023868
AA Change: E147G

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

noncoding transcript
Transcript: ENSMUST00000136160

Predicted Effect

probably damaging
Transcript: ENSMUST00000149440
AA Change: E24G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123216
Gene: ENSMUSG00000023868
AA Change: E24G

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: E375G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	G	A	11: 80,364,012	Q328*	probably null	Het
Adamts1	G	A	16: 85,798,511	Q260*	probably null	Het
Add2	A	T	6: 86,098,646	Y259F	probably benign	Het
Bora	T	C	14: 99,068,404	V403A	probably benign	Het
Ccdc144b	C	T	3: 36,018,997	A379T	probably damaging	Het
Ccnl1	G	A	3: 65,946,770	R477W	probably damaging	Het
Cdc25a	CG	CGG	9: 109,879,893		probably null	Het
Cdr2l	T	C	11: 115,393,377	S180P	probably damaging	Het
Cep290	T	A	10: 100,549,329	L1889Q	probably damaging	Het
Ces4a	T	C	8: 105,142,821	V208A	probably damaging	Het
Col2a1	T	C	15: 97,979,250	D1049G	probably damaging	Het
Coro1a	A	T	7: 126,701,692	N154K	possibly damaging	Het
Cubn	T	A	2: 13,469,789	R401S	probably benign	Het
Cul7	A	T	17: 46,663,091	Q1434L	probably benign	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dars	G	T	1: 128,373,972	D308E	probably benign	Het
Dna2	T	A	10: 62,961,657	F604I	probably damaging	Het
Dnah1	T	G	14: 31,301,262	I1033L	probably benign	Het
Dusp27	G	A	1: 166,110,259	T77I	probably benign	Het
Erlin1	T	C	19: 44,047,673	E206G	probably damaging	Het
Esrp2	T	A	8: 106,133,273	E345D	probably damaging	Het
Foxa1	T	C	12: 57,542,687	D249G	possibly damaging	Het
Ghsr	C	A	3: 27,372,277	L161M	probably benign	Het
Gm436	T	A	4: 144,670,424	K246I	possibly damaging	Het
Gpr155	C	A	2: 73,370,090	V358F	probably damaging	Het
H2-Eb2	A	T	17: 34,334,374	N178I	probably damaging	Het
Hydin	T	A	8: 110,410,674	I703N	possibly damaging	Het
Kctd15	A	G	7: 34,641,992	V170A	probably damaging	Het
Klhl31	A	T	9: 77,651,016	Y338F	possibly damaging	Het
Krt5	C	T	15: 101,712,441	A124T	probably benign	Het
Krt72	T	A	15: 101,780,253	I331F	probably benign	Het
Lrp1b	T	A	2: 41,511,478	D388V	probably damaging	Het
Ly9	A	G	1: 171,596,507	V382A	probably benign	Het
Mon2	T	C	10: 123,016,396	Y1024C	probably damaging	Het
Myh14	A	G	7: 44,638,394	F572L	probably damaging	Het
Myh3	A	T	11: 67,093,171	D987V	probably damaging	Het
Ndn	C	T	7: 62,348,508	P34L	probably benign	Het
Nphp4	A	G	4: 152,562,090	T1360A	probably benign	Het
Olfr1034	C	T	2: 86,047,313	T277I	probably damaging	Het
Olfr1151	T	A	2: 87,857,751	I192K	probably benign	Het
Olfr1299	G	T	2: 111,664,754	S176I	probably damaging	Het
Oog4	A	G	4: 143,438,001	L320P	probably damaging	Het
Pcnx2	T	C	8: 125,772,086	N1558S	probably benign	Het
Pgbd5	T	A	8: 124,374,287	H410L	probably benign	Het
Plce1	A	C	19: 38,720,996	D1098A	probably damaging	Het
Psg25	G	A	7: 18,532,003	Q16*	probably null	Het
Psmd9	T	A	5: 123,241,917	V133E	probably damaging	Het
Rabgap1	C	T	2: 37,561,899	S937F	probably damaging	Het
Rbck1	A	G	2: 152,323,170		probably null	Het
Rprd2	C	G	3: 95,818,739		probably benign	Het
Rrs1	A	G	1: 9,545,912	N130S	probably benign	Het
Scmh1	A	T	4: 120,515,130	I377F	possibly damaging	Het
Skor1	G	T	9: 63,146,004	R228S	probably damaging	Het
Slc2a4	A	G	11: 69,945,018	V335A	probably benign	Het
Slc4a9	G	A	18: 36,528,371	W62*	probably null	Het
Taar9	G	T	10: 24,109,407	A43D	possibly damaging	Het
Tns4	T	C	11: 99,070,417	Y645C	probably damaging	Het
Tpcn2	G	T	7: 145,277,220	Y129*	probably null	Het
Trpm3	T	C	19: 22,733,024	S278P	possibly damaging	Het
Ttc3	T	C	16: 94,422,297	W615R	probably damaging	Het
Ttll5	T	C	12: 85,863,598	V207A	probably damaging	Het
Ubr7	G	T	12: 102,769,894	M358I	probably damaging	Het
Urb1	C	A	16: 90,777,440	V918F	possibly damaging	Het
Vmn2r51	G	A	7: 10,105,505	T52I	probably benign	Het
Vmn2r95	A	T	17: 18,452,313	I771F	probably benign	Het
Wfdc16	T	C	2: 164,635,430	S107G	probably benign	Het
Zmym2	A	G	14: 56,902,769	T22A	possibly damaging	Het
Zmym2	G	A	14: 56,914,067	G470R	probably 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
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
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'- TCTTTTACCAGGCAAGCTGCCATC -3'
(R):5'- GTGTTTCCACTTCAGACTGAGCCC -3'

Sequencing Primer
(F):5'- GGACCCAGATAGTTCAGTTTCAAG -3'
(R):5'- ttcagactgAGCCCAGCAAC -3'

Posted On

2014-04-24