Mutagenetix > Incidental Mutation

Incidental Mutation 'R8137:Pde10a'

632325

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 #

R8137 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8525372-8986648 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8974815 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 693 (Y693C)

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

probably damaging
Transcript: ENSMUST00000024647
AA Change: Y613C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000024647
Gene: ENSMUSG00000023868
AA Change: Y613C

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: ENSMUST00000089085
AA Change: Y693C

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000086485
Gene: ENSMUSG00000023868
AA Change: Y693C

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: ENSMUST00000115708
AA Change: Y409C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111373
Gene: ENSMUSG00000023868
AA Change: Y409C

Domain	Start	End	E-Value	Type
GAF	3	148	5.22e-23	SMART
HDc	238	404	9.04e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000115715
AA Change: Y613C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111380
Gene: ENSMUSG00000023868
AA Change: Y613C

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 damaging
Transcript: ENSMUST00000115720
AA Change: Y676C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111385
Gene: ENSMUSG00000023868
AA Change: Y676C

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: Y747C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111389
Gene: ENSMUSG00000023868
AA Change: Y747C

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 damaging
Transcript: ENSMUST00000149440
AA Change: Y624C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123216
Gene: ENSMUSG00000023868
AA Change: Y624C

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: Y975C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.8%
20x: 96.4%

Validation Efficiency

100% (56/56)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankfn1	T	G	11: 89,453,177	Q326H	probably benign	Het
Carf	G	A	1: 60,147,965	V576I	probably benign	Het
Ccnl1	C	T	3: 65,957,870	D87N	possibly damaging	Het
Cgref1	T	A	5: 30,934,405	D111V	possibly damaging	Het
Cnot4	G	A	6: 35,046,287	P567S	unknown	Het
Cyp7b1	A	T	3: 18,097,601	D149E	probably benign	Het
Dcc	A	T	18: 71,378,712	D877E	probably benign	Het
Dhx8	T	A	11: 101,763,982	I1032N	probably damaging	Het
Dnah7b	A	G	1: 46,233,753	Y2347C	probably damaging	Het
Dtx3	A	G	10: 127,193,172	S63P	possibly damaging	Het
Dyrk2	C	T	10: 118,859,884	E490K	probably benign	Het
Fcgbp	A	C	7: 28,105,071	Y1868S	probably damaging	Het
Foxa2	T	C	2: 148,043,848	H355R	probably benign	Het
Fpr-rs7	A	G	17: 20,113,793	V145A	possibly damaging	Het
Gm13089	A	G	4: 143,699,265	F36S	probably damaging	Het
Gm14137	A	T	2: 119,175,356	E132V	probably benign	Het
Gpn2	T	C	4: 133,588,562	S211P	possibly damaging	Het
Greb1l	A	T	18: 10,474,357	Q224L	possibly damaging	Het
Gspt1	A	G	16: 11,240,668	V144A	probably benign	Het
Ifi204	A	G	1: 173,761,622	I81T	possibly damaging	Het
Il27ra	T	A	8: 84,041,091		probably null	Het
Kif21a	T	C	15: 90,968,442	T862A	probably benign	Het
Klf2	T	C	8: 72,320,244		probably null	Het
Kmt2e	A	G	5: 23,501,954	Y1505C	probably damaging	Het
Mcm9	T	C	10: 53,622,980	T216A		Het
Muc16	T	C	9: 18,645,676	E3107G	unknown	Het
Ncor2	C	T	5: 125,037,893	V169I		Het
Oas3	T	C	5: 120,777,500	Q42R	probably benign	Het
Olfr1208	T	C	2: 88,896,669	*309W	probably null	Het
Olfr167	A	G	16: 19,515,096	V180A	possibly damaging	Het
Pde11a	T	C	2: 76,211,039	E429G	possibly damaging	Het
Pygo1	A	G	9: 72,944,858	H109R	probably damaging	Het
Rbsn	A	T	6: 92,190,022	V547D	probably benign	Het
Ros1	A	G	10: 52,125,837	I1084T	possibly damaging	Het
Sis	T	C	3: 72,889,045	D1801G	probably benign	Het
Slco4c1	C	T	1: 96,821,245	G649E	probably damaging	Het
Sptbn2	A	T	19: 4,737,403	I914F	possibly damaging	Het
Srebf2	C	T	15: 82,178,765	R468C	probably damaging	Het
Strc	C	T	2: 121,366,738	G1503R	probably damaging	Het
Sv2c	T	A	13: 96,088,663	Y46F	probably damaging	Het
Tctn3	A	T	19: 40,605,341	W462R	probably damaging	Het
Tex43	A	G	18: 56,594,581	D117G	probably damaging	Het
Tjp3	T	C	10: 81,273,691	D857G	probably benign	Het
Tor1aip2	C	T	1: 156,063,668	T242I	possibly damaging	Het
Ttn	T	A	2: 76,969,929	I312F	unknown	Het
Vezt	T	C	10: 93,939,292	N94D		Het
Vmn2r105	T	C	17: 20,234,704	N57D	probably benign	Het
Wdr59	T	C	8: 111,485,379	D353G		Het
Ykt6	T	C	11: 5,959,368	V59A	probably damaging	Het
Ypel3	T	G	7: 126,778,097	V54G	possibly damaging	Het
Zfp386	T	A	12: 116,059,648	C329S	possibly damaging	Het
Zfp451	A	T	1: 33,782,075	L232H	possibly damaging	Het
Zfp648	A	G	1: 154,205,364	H423R	probably damaging	Het
Zfp729b	T	C	13: 67,592,742	Y468C	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
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
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
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'- GTCGTAGCAAGTAACACACAGG -3'
(R):5'- TGTGTTGCAATGTGTGACTAACC -3'

Sequencing Primer
(F):5'- AGCCTGTGTACTCCAGGAGATAC -3'
(R):5'- GTTGCAATGTGTGACTAACCACCAC -3'

Posted On

2020-06-30