Mutagenetix > Incidental Mutation

Incidental Mutation 'R7923:Pde10a'

648576

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 #

R7923 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

8525372-8986648 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8929132 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 89 (N89S)

Ref Sequence

ENSEMBL: ENSMUSP00000086485 (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 benign
Transcript: ENSMUST00000024647
AA Change: N9S

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000024647
Gene: ENSMUSG00000023868
AA Change: N9S

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: N89S

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000086485
Gene: ENSMUSG00000023868
AA Change: N89S

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
AA Change: N9S

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000111380
Gene: ENSMUSG00000023868
AA Change: N9S

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: N89S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000115720
AA Change: N72S

PolyPhen 2 Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000111385
Gene: ENSMUSG00000023868
AA Change: N72S

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: N143S

PolyPhen 2 Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000111389
Gene: ENSMUSG00000023868
AA Change: N143S

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: N20S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000123216
Gene: ENSMUSG00000023868
AA Change: N20S

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

possibly damaging
Transcript: ENSMUST00000231430
AA Change: N371S

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.4%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	C	T	8: 72,444,911	T54M	probably damaging	Het
4932443I19Rik	A	C	8: 13,738,456	H140P	unknown	Het
Aacs	T	A	5: 125,511,884	S409T	probably damaging	Het
Atf6	T	C	1: 170,794,706	M449V	probably benign	Het
B4galt1	C	T	4: 40,809,373	G332S	probably benign	Het
Bcl11a	G	T	11: 24,163,680	R341M	probably damaging	Het
Brf2	G	A	8: 27,124,190	Q323*	probably null	Het
Bscl2	T	C	19: 8,847,519	V322A	probably benign	Het
Btnl9	T	C	11: 49,180,738	Y86C	probably damaging	Het
C4b	T	A	17: 34,742,380	I202F	probably damaging	Het
Cbfb	T	A	8: 105,194,593		probably null	Het
Cc2d2b	T	A	19: 40,806,849	Y963N	possibly damaging	Het
Cep135	A	T	5: 76,609,692	D391V	possibly damaging	Het
Col12a1	A	G	9: 79,678,493	V1228A	probably benign	Het
Cr2	T	A	1: 195,168,687	Y157F	probably benign	Het
Creg2	C	T	1: 39,650,903	G13E	probably benign	Het
Cul5	G	T	9: 53,624,166	A595E	probably benign	Het
Cyp4f16	A	G	17: 32,546,747	E368G	possibly damaging	Het
E430018J23Rik	C	T	7: 127,393,324	C38Y	probably null	Het
Eln	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	5: 134,711,081		probably benign	Het
Eps15	G	A	4: 109,315,872	D177N	possibly damaging	Het
Erbb4	C	T	1: 68,259,209	R684H	probably damaging	Het
Ermp1	C	T	19: 29,628,658	V419I	probably benign	Het
Foxi3	T	C	6: 70,960,716	S311P	probably benign	Het
Fras1	C	T	5: 96,739,318	A2653V	probably damaging	Het
Gbp3	A	T	3: 142,567,612	N307Y	probably damaging	Het
Ggcx	G	A	6: 72,427,917	R436Q	probably damaging	Het
Gimap3	A	T	6: 48,765,627	V123D	probably benign	Het
Gm14326	A	T	2: 177,945,887	Y439N	probably damaging	Het
Gm4756	G	T	12: 72,619,358	Q180K	probably benign	Het
Gm5591	A	G	7: 38,521,914	S244P	probably benign	Het
Gm9507	A	T	10: 77,811,537	C103S	unknown	Het
Guf1	G	A	5: 69,561,159	V214I	probably benign	Het
Ido2	T	C	8: 24,576,193	Y19C	probably damaging	Het
Idua	T	C	5: 108,680,583	S268P	probably damaging	Het
Igf1r	T	C	7: 68,190,101	Y719H	probably damaging	Het
Itgb4	A	T	11: 115,982,699		probably null	Het
Kctd19	T	A	8: 105,385,058	T868S	probably damaging	Het
Lonrf2	A	T	1: 38,800,762	H417Q	probably benign	Het
Lrp2	T	C	2: 69,438,388	T4184A	possibly damaging	Het
Mapk15	T	C	15: 75,996,446	F219S	probably damaging	Het
Myh7b	A	T	2: 155,625,966	Y808F	probably benign	Het
Myo19	T	G	11: 84,885,710	F64C	possibly damaging	Het
Mysm1	A	T	4: 94,961,765	V434D	probably damaging	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 66,860,548		probably benign	Het
Nbeal2	A	T	9: 110,631,446	Y1780*	probably null	Het
Ndc80	A	T	17: 71,496,301	M615K	probably benign	Het
Nfkbib	C	A	7: 28,766,263	V54F	probably damaging	Het
Npy5r	A	G	8: 66,681,752	F130L	probably damaging	Het
Nt5c3	T	C	6: 56,883,042	E304G	probably benign	Het
Odaph	A	G	5: 91,994,699	D40G	possibly damaging	Het
Olfr1389	C	T	11: 49,430,605	T43I	probably benign	Het
Olfr1469	T	C	19: 13,410,818	M83T	probably benign	Het
Olfr695	T	A	7: 106,714,442	K80*	probably null	Het
Olfr974	A	T	9: 39,942,967	K236*	probably null	Het
Palm3	T	A	8: 84,029,461	I534K	probably benign	Het
Piezo1	T	C	8: 122,496,444	K870E		Het
Pik3c2g	T	C	6: 139,633,793		probably null	Het
Pnpla6	T	A	8: 3,531,737	Y662*	probably null	Het
Proser3	A	T	7: 30,549,661	F2Y	possibly damaging	Het
Psma5	A	G	3: 108,265,129	I54V	probably benign	Het
Qrich2	C	A	11: 116,457,337	G887V	probably damaging	Het
Rdx	A	G	9: 52,065,901	D150G	possibly damaging	Het
Reln	C	T	5: 22,134,692	V221I	probably benign	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,579,906		probably benign	Het
Samd14	A	G	11: 95,023,458		probably null	Het
Scimp	A	T	11: 70,791,515	I125N	possibly damaging	Het
Sec23a	A	G	12: 58,992,247	F289L	probably damaging	Het
Sipa1l3	G	A	7: 29,339,146	Q1408*	probably null	Het
Skor2	T	C	18: 76,858,721	L46P	unknown	Het
Slc12a1	A	T	2: 125,214,092	I848F	possibly damaging	Het
Slc47a1	A	G	11: 61,363,403	L211P	probably damaging	Het
Slc7a10	T	C	7: 35,195,129	V71A	probably damaging	Het
Smco1	C	A	16: 32,274,047	Q179K	possibly damaging	Het
Smg1	A	G	7: 118,143,322	L3223P	possibly damaging	Het
Smpdl3a	T	C	10: 57,801,045	S80P	probably damaging	Het
Spire2	A	G	8: 123,332,987	R75G	probably benign	Het
Sptbn2	T	A	19: 4,746,799	H1808Q	probably benign	Het
Srgap2	T	C	1: 131,300,413	E720G	possibly damaging	Het
Ssfa2	G	T	2: 79,662,615	E1169*	probably null	Het
Supv3l1	T	C	10: 62,445,081	D177G	probably damaging	Het
Syne1	C	T	10: 5,264,738	E3215K	probably damaging	Het
Szt2	A	G	4: 118,373,840	V2548A	unknown	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,160,856		probably null	Het
Washc2	A	G	6: 116,226,424	E384G	possibly damaging	Het
Zfp712	T	A	13: 67,042,185	N93Y	probably benign	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
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'- CCAGATAGTTCAGTTTCAAGTCTCC -3'
(R):5'- TGTTTCCACTTCAGACTGAGCC -3'

Sequencing Primer
(F):5'- AAGTCTCCCTGTTTTACAAGTGG -3'
(R):5'- TTCAGACTGAGCCCAGCAAC -3'

Posted On

2020-09-15