Mutagenetix > Incidental Mutation

Incidental Mutation 'R1665:Pde10a'

187145

Institutional Source

Beutler Lab

Gene Symbol

Pde10a

Ensembl Gene

ENSMUSG00000023868

Gene Name

phosphodiesterase 10A

Synonyms

MMRRC Submission

039701-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1665 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8525372-8986648 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8898870 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 26 (D26G)

Ref Sequence

ENSEMBL: ENSMUSP00000138135 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024647] [ENSMUST00000089085] [ENSMUST00000115715] [ENSMUST00000115717] [ENSMUST00000115720] [ENSMUST00000115722] [ENSMUST00000115724] [ENSMUST00000231430]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000024647

SMART Domains

Protein: ENSMUSP00000024647
Gene: ENSMUSG00000023868

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: D26G

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000086485
Gene: ENSMUSG00000023868
AA Change: D26G

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: ENSMUST00000115715

SMART Domains

Protein: ENSMUSP00000111380
Gene: ENSMUSG00000023868

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: D26G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000115720
AA Change: D9G

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000111385
Gene: ENSMUSG00000023868
AA Change: D9G

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: ENSMUST00000115722
AA Change: D61G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000115724
AA Change: D80G

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

SMART Domains

Protein: ENSMUSP00000111389
Gene: ENSMUSG00000023868
AA Change: D80G

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

noncoding transcript
Transcript: ENSMUST00000141877

Predicted Effect

probably damaging
Transcript: ENSMUST00000231430
AA Change: D308G

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

Meta Mutation Damage Score

0.0845

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

100% (87/87)

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
Abca3	G	A	17: 24,377,842	G423E	probably damaging	Het
Acox3	A	T	5: 35,603,027	H429L	probably damaging	Het
Afg1l	T	A	10: 42,426,577	K142N	probably damaging	Het
Aldh1a7	T	C	19: 20,727,461	I18V	probably benign	Het
Angel2	T	C	1: 190,937,467	Y115H	probably damaging	Het
Bsg	T	G	10: 79,711,518	N261K	probably damaging	Het
C2cd2l	A	T	9: 44,316,775	V83E	probably benign	Het
Caml	C	A	13: 55,631,971	L286I	probably benign	Het
Ccdc125	A	G	13: 100,693,573	I284V	probably benign	Het
Ces2a	G	A	8: 104,737,555		probably benign	Het
Cfap61	T	C	2: 146,035,319		probably null	Het
Creg2	C	T	1: 39,623,204	W253*	probably null	Het
Csmd3	T	C	15: 47,696,789	T2293A	probably damaging	Het
Cttnbp2	A	T	6: 18,434,983	I292K	probably benign	Het
Dab2ip	T	A	2: 35,720,278	M770K	probably damaging	Het
Dct	T	A	14: 118,034,251	D389V	probably damaging	Het
Dnah17	A	T	11: 118,121,495		probably benign	Het
Dnah6	T	C	6: 73,124,778	E1921G	probably benign	Het
Ehmt1	A	G	2: 24,877,464	S272P	probably damaging	Het
Ero1lb	T	C	13: 12,579,261		probably null	Het
Fnip2	A	G	3: 79,515,149	F108S	probably benign	Het
Foxb1	G	A	9: 69,759,822	A142V	probably damaging	Het
Fras1	A	T	5: 96,598,909	S613C	probably damaging	Het
Gm11639	A	G	11: 104,721,114	K594R	probably benign	Het
Gm7276	C	A	18: 77,185,570		probably benign	Het
Gnb4	A	C	3: 32,590,039	L152*	probably null	Het
H1fnt	G	T	15: 98,256,915	Q118K	probably benign	Het
Hdac7	A	G	15: 97,806,525	L119P	probably damaging	Het
Hsd17b4	G	A	18: 50,160,215	E274K	probably benign	Het
Htr4	T	C	18: 62,412,234	I30T	probably damaging	Het
Ikzf2	T	A	1: 69,538,814	Y512F	probably damaging	Het
Itga10	C	T	3: 96,651,738		probably benign	Het
Klhl22	C	A	16: 17,776,488	D160E	probably benign	Het
Kpna6	T	A	4: 129,657,471	R80S	probably benign	Het
Lclat1	A	G	17: 73,188,004	E142G	probably damaging	Het
Lrig3	T	C	10: 125,997,701	Y349H	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,185,261		probably null	Het
Map1b	T	A	13: 99,431,929	N1428I	unknown	Het
Map3k19	T	A	1: 127,817,656	T1354S	possibly damaging	Het
Med13l	T	A	5: 118,749,748	W1696R	probably damaging	Het
Mfn1	T	G	3: 32,534,322	V66G	probably benign	Het
Mllt10	A	T	2: 18,208,790	Q459L	possibly damaging	Het
Morc2a	G	A	11: 3,675,885	V162M	probably benign	Het
Muc15	C	T	2: 110,733,898	Q260*	probably null	Het
Nfkb1	T	C	3: 135,594,957	H616R	probably damaging	Het
Nr2c1	T	A	10: 94,188,183	W417R	probably damaging	Het
Olfr1279	T	C	2: 111,306,771	C189R	probably damaging	Het
Olfr1285	T	C	2: 111,408,753	Y113H	probably damaging	Het
Olfr1480	A	T	19: 13,529,838	H99L	probably damaging	Het
Olfr250	C	T	9: 38,367,566	H7Y	probably benign	Het
Olfr541	G	T	7: 140,704,794	C181F	probably damaging	Het
Olfr714	T	C	7: 107,074,274	S149P	probably damaging	Het
Pi15	G	T	1: 17,621,502	C176F	probably damaging	Het
Pou2f2	T	A	7: 25,092,724	T569S	possibly damaging	Het
Prf1	A	C	10: 61,302,887	E208A	probably benign	Het
Prkd1	G	A	12: 50,394,926	H277Y	probably damaging	Het
Rc3h1	T	A	1: 160,959,423	V796E	probably benign	Het
Rgl1	T	C	1: 152,533,575	Y503C	probably damaging	Het
Ripk3	T	A	14: 55,786,351	H1L	probably benign	Het
Ryr1	C	T	7: 29,036,078	D4064N	probably damaging	Het
Sec63	T	A	10: 42,798,728		probably null	Het
Slco1a4	T	G	6: 141,839,577	M96L	possibly damaging	Het
Slit3	A	T	11: 35,234,906	R137S	possibly damaging	Het
Smad1	T	C	8: 79,372,029	E52G	probably damaging	Het
Srd5a2	A	T	17: 74,021,481	W201R	probably damaging	Het
Steap1	A	T	5: 5,736,498	L313Q	probably damaging	Het
Syt2	C	A	1: 134,747,620	A403D	probably damaging	Het
Tax1bp1	T	A	6: 52,736,912	S225R	probably benign	Het
Thap3	C	T	4: 151,985,704	V78M	probably damaging	Het
Thoc5	A	G	11: 4,919,792	K446R	probably benign	Het
Timmdc1	A	C	16: 38,510,717		probably null	Het
Tm6sf2	G	T	8: 70,078,930		probably benign	Het
Tmem126b	G	T	7: 90,475,971	A2E	probably damaging	Het
Trim9	T	A	12: 70,255,113	R584W	probably damaging	Het
Ttn	C	A	2: 76,830,856		probably benign	Het
Vmn1r25	A	T	6: 57,978,461	I281N	probably damaging	Het
Wdr59	A	G	8: 111,479,362	F553S	probably damaging	Het
Zc3h4	A	G	7: 16,429,580	M575V	unknown	Het
Zfp53	A	G	17: 21,509,504	T600A	probably damaging	Het
Zic5	A	G	14: 122,459,527	S559P	unknown	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
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'- GCTCTGCTAAGGTAGAATGCCATCC -3'
(R):5'- ACGTTCGCTCTAAACTCAGTGCTC -3'

Sequencing Primer
(F):5'- GGTAGAATGCCATCCTAGCATTTG -3'
(R):5'- TAAACTCAGTGCTCGCTCAG -3'

Posted On

2014-05-09