Mutagenetix > Incidental Mutation

Incidental Mutation 'R9275:Pde10a'

703251

Institutional Source

Beutler Lab

Gene Symbol

Pde10a

Ensembl Gene

ENSMUSG00000023868

Gene Name

phosphodiesterase 10A

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9275 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8525372-8986648 bp(+) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 8981656 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 797 (*797W)

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 null
Transcript: ENSMUST00000024647
AA Change: *717W

SMART Domains

Protein: ENSMUSP00000024647
Gene: ENSMUSG00000023868
AA Change: *717W

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 null
Transcript: ENSMUST00000089085
AA Change: *797W

SMART Domains

Protein: ENSMUSP00000086485
Gene: ENSMUSG00000023868
AA Change: *797W

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 null
Transcript: ENSMUST00000115708
AA Change: *513W

SMART Domains

Protein: ENSMUSP00000111373
Gene: ENSMUSG00000023868
AA Change: *513W

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

Predicted Effect

probably null
Transcript: ENSMUST00000115715
AA Change: *717W

SMART Domains

Protein: ENSMUSP00000111380
Gene: ENSMUSG00000023868
AA Change: *717W

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 null
Transcript: ENSMUST00000115720
AA Change: *780W

SMART Domains

Protein: ENSMUSP00000111385
Gene: ENSMUSG00000023868
AA Change: *780W

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 null
Transcript: ENSMUST00000115724
AA Change: *851W

SMART Domains

Protein: ENSMUSP00000111389
Gene: ENSMUSG00000023868
AA Change: *851W

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 null
Transcript: ENSMUST00000149440
AA Change: *728W

SMART Domains

Protein: ENSMUSP00000123216
Gene: ENSMUSG00000023868
AA Change: *728W

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 null
Transcript: ENSMUST00000231430
AA Change: *1079W

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abr	A	G	11: 76,464,282	Y249H	probably damaging	Het
AF067063	T	C	13: 119,828,457	S68G	possibly damaging	Het
Afdn	T	A	17: 13,804,008	C59S	probably damaging	Het
Akap11	C	A	14: 78,513,709	V413F		Het
Ank3	T	C	10: 69,986,832	S444P	probably damaging	Het
Ankrd12	C	T	17: 66,037,604	E91K	possibly damaging	Het
Arhgap10	A	G	8: 77,411,036	S309P	probably damaging	Het
Arpc2	C	A	1: 74,236,882	F19L	probably benign	Het
Atp5a1	C	T	18: 77,781,297	T457I	probably damaging	Het
Bsn	C	T	9: 108,111,620	R2311H	probably damaging	Het
C1ra	A	G	6: 124,517,424	T277A	probably benign	Het
Celsr3	C	G	9: 108,838,490	L2124V	probably benign	Het
Cenpv	T	C	11: 62,525,163	*253W	probably null	Het
Cfap54	A	T	10: 93,039,186	V479E	possibly damaging	Het
Clec1a	T	C	6: 129,451,601		probably benign	Het
Cmpk2	A	T	12: 26,469,569	Y73F	probably benign	Het
Cpne2	T	C	8: 94,555,015	I226T	possibly damaging	Het
Cyp2c67	C	T	19: 39,609,255	R433Q	probably damaging	Het
Dagla	A	G	19: 10,254,856	Y489H	probably damaging	Het
Dennd4a	C	A	9: 64,842,624	P166T	probably damaging	Het
Dnm2	C	T	9: 21,505,681	R837W	possibly damaging	Het
Enpp2	C	T	15: 54,850,088	R658Q	probably benign	Het
Gm10521	G	A	1: 171,896,463	V114I	unknown	Het
Gm7534	A	G	4: 134,195,459	L521P	probably damaging	Het
H2-T24	T	A	17: 36,017,384	E69V	probably damaging	Het
H6pd	T	A	4: 149,995,850	K179N	probably damaging	Het
Hsf2bp	C	T	17: 31,987,362	W265*	probably null	Het
Igfn1	C	A	1: 135,973,447	R431L	probably damaging	Het
Kcng2	T	C	18: 80,295,859	S405G	possibly damaging	Het
Leng9	T	C	7: 4,148,448	T410A	probably benign	Het
Lrp1b	T	C	2: 40,597,064	Y4557C		Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Mlkl	A	G	8: 111,316,423	V364A	probably benign	Het
Mns1	T	A	9: 72,449,225	F254Y	probably benign	Het
Naip1	T	A	13: 100,426,176	N827I	probably damaging	Het
Neb	C	T	2: 52,256,178	R2929H	probably damaging	Het
Olfr1025-ps1	A	G	2: 85,918,702	Y259C	probably benign	Het
Olfr111	T	A	17: 37,530,928	M317K	probably benign	Het
Pirb	T	G	7: 3,716,860	H429P	probably benign	Het
Plbd1	A	G	6: 136,617,288	L321P	probably damaging	Het
Pmfbp1	A	G	8: 109,535,839	I722V	probably benign	Het
Polr2b	A	G	5: 77,323,638	R274G	probably damaging	Het
Prune2	C	T	19: 17,123,780	T2216I	probably benign	Het
Psma3	A	T	12: 70,994,382	D252V	probably benign	Het
Ptpn1	C	T	2: 167,974,256	T230I	probably damaging	Het
Rhpn1	T	C	15: 75,713,271	V519A	possibly damaging	Het
Rnf213	T	C	11: 119,435,942	V1586A		Het
Rrp36	T	A	17: 46,672,380	K103*	probably null	Het
Ryr2	T	C	13: 11,883,090	T140A	probably benign	Het
Scn1a	T	A	2: 66,299,682	Y243F	probably damaging	Het
Sdk1	A	G	5: 141,956,198	T534A	possibly damaging	Het
Slc27a5	T	C	7: 12,997,713	D117G	probably damaging	Het
Slc2a1	A	T	4: 119,133,410	E246D	probably benign	Het
Smpd2	T	C	10: 41,487,689	D289G	probably benign	Het
Spag6	A	C	2: 18,699,174	E11A	probably benign	Het
Stard3	G	A	11: 98,372,105		probably benign	Het
Tcf19	A	G	17: 35,515,002	V86A	probably damaging	Het
Tigit	A	T	16: 43,659,470	M154K	probably benign	Het
Trim34a	T	A	7: 104,260,994	N334K	probably damaging	Het
Tsen15	T	C	1: 152,383,347	I87V	probably damaging	Het
Ttn	A	T	2: 76,907,874	M4153K	unknown	Het
Uchl3	A	T	14: 101,668,527		probably null	Het
Usp1	A	G	4: 98,931,341	K347E	probably damaging	Het
Vmn1r73	T	C	7: 11,756,552	M99T	probably benign	Het
Vmn2r20	A	G	6: 123,385,435	W797R	probably damaging	Het
Vwa7	A	G	17: 35,019,736	T267A	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
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
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'- GGAACTCTGTTTTGATGCCACC -3'
(R):5'- ATAGCATTCGGAGGTCAGGTG -3'

Sequencing Primer
(F):5'- AACTCTGTTTTGATGCCACCTGTAAC -3'
(R):5'- GAGTAGCCGACGTCTGAACAC -3'

Posted On

2022-03-25