Mutagenetix > Incidental Mutation

Incidental Mutation 'R5735:Pde10a'

451673

Institutional Source

Beutler Lab

Gene Symbol

Pde10a

Ensembl Gene

ENSMUSG00000023868

Gene Name

phosphodiesterase 10A

Synonyms

MMRRC Submission

043349-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5735 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8525372-8986648 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 8941192 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 432 (I432F)

Ref Sequence

ENSEMBL: ENSMUSP00000156356 (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

possibly damaging
Transcript: ENSMUST00000024647
AA Change: I70F

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000024647
Gene: ENSMUSG00000023868
AA Change: I70F

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: I150F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000086485
Gene: ENSMUSG00000023868
AA Change: I150F

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: ENSMUST00000115708

SMART Domains

Protein: ENSMUSP00000111373
Gene: ENSMUSG00000023868

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115715
AA Change: I70F

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

SMART Domains

Protein: ENSMUSP00000111380
Gene: ENSMUSG00000023868
AA Change: I70F

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
AA Change: H133L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000115720
AA Change: I133F

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000111385
Gene: ENSMUSG00000023868
AA Change: I133F

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: I204F

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

SMART Domains

Protein: ENSMUSP00000111389
Gene: ENSMUSG00000023868
AA Change: I204F

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 benign
Transcript: ENSMUST00000149440
AA Change: I81F

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000123216
Gene: ENSMUSG00000023868
AA Change: I81F

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: I432F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.8%
20x: 94.4%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700081O15Rik	A	G	19: 7,422,796	E209G	probably benign	Het
4930430A15Rik	A	T	2: 111,225,492	L183*	probably null	Het
9130019O22Rik	G	T	7: 127,385,407	H174Q	possibly damaging	Het
Adamts16	C	A	13: 70,836,218	D109Y	possibly damaging	Het
Armc8	T	A	9: 99,497,394		probably null	Het
Atg4b	G	T	1: 93,773,797	G71V	probably damaging	Het
Atp10b	A	T	11: 43,151,774	M54L	probably benign	Het
Baiap2l1	A	G	5: 144,286,302	L75P	probably damaging	Het
Bnc2	A	C	4: 84,292,671	L487R	probably damaging	Het
C330027C09Rik	T	A	16: 49,017,493		probably null	Het
Cacng7	T	C	7: 3,339,023	S141P	probably benign	Het
Carmil2	G	A	8: 105,698,031	G1361D	probably damaging	Het
Cenpf	T	C	1: 189,654,363	I1907V	probably benign	Het
Cep192	T	C	18: 67,880,795	V2422A	probably benign	Het
Cfap73	T	A	5: 120,632,606	Q33L	probably benign	Het
Cmtm2a	A	T	8: 104,292,786	I57N	probably damaging	Het
Col6a2	T	A	10: 76,599,893	D836V	probably benign	Het
Dnah2	A	G	11: 69,430,817	V3839A	possibly damaging	Het
Enpp1	A	T	10: 24,654,919	F546L	possibly damaging	Het
Eps8l2	A	G	7: 141,360,377	T507A	probably damaging	Het
Erg28	C	T	12: 85,816,152	E129K	probably benign	Het
Erlec1	A	T	11: 30,950,591	N153K	probably benign	Het
Fam234a	T	C	17: 26,213,705	E490G	probably damaging	Het
Fat4	C	T	3: 38,949,576	R1815C	probably damaging	Het
Galnt1	T	G	18: 24,264,520	I226S	possibly damaging	Het
Gm13088	A	T	4: 143,654,635	C273S	probably damaging	Het
Ifnl2	T	A	7: 28,510,189	I58F	possibly damaging	Het
Itih5	A	G	2: 10,240,761	N554D	probably benign	Het
Kcna10	A	G	3: 107,195,078	I342V	probably benign	Het
Kif6	G	A	17: 49,832,182	E561K	probably damaging	Het
Kl	A	G	5: 150,991,538	N910S	possibly damaging	Het
Lpar2	G	T	8: 69,823,735	R58L	probably damaging	Het
Macrod2	A	G	2: 140,418,889	T27A	possibly damaging	Het
Mfsd2a	A	T	4: 122,949,327	V387D	probably damaging	Het
Npas3	A	T	12: 54,003,479	T231S	probably benign	Het
Olfr1100	A	G	2: 86,978,700	V32A	probably benign	Het
Olfr1107	A	T	2: 87,071,412	C241S	probably damaging	Het
Olfr1242	A	T	2: 89,493,468	N281K	probably damaging	Het
Olfr669	A	T	7: 104,938,759	T78S	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Phka2	ACC	AC	X: 160,559,866		probably null	Het
Pomt1	G	A	2: 32,243,505	G218R	probably damaging	Het
Prdm5	C	T	6: 65,927,990	T157I	possibly damaging	Het
Psen2	T	A	1: 180,240,926	E54V	probably benign	Het
Ptpn13	C	A	5: 103,554,820	H1217Q	probably benign	Het
Ptprt	A	G	2: 161,534,564	S1306P	probably damaging	Het
Ptpru	G	T	4: 131,838,090	P23T	probably benign	Het
Rtn3	T	C	19: 7,456,692	E626G	probably damaging	Het
Scn3a	A	T	2: 65,482,278	M1191K	probably damaging	Het
Scn3a	T	A	2: 65,484,459	N1086I	probably benign	Het
Sgms2	A	T	3: 131,336,217	M174K	probably damaging	Het
Skor1	T	A	9: 63,146,064	I180F	probably damaging	Het
Slit2	T	G	5: 48,259,616	C1003W	probably damaging	Het
Tbc1d2b	T	A	9: 90,222,409	Q560L	possibly damaging	Het
Tcrg-V5	T	G	13: 19,192,525	H47Q	probably benign	Het
Themis	A	G	10: 28,722,534	I51V	probably benign	Het
Tmem203	T	C	2: 25,256,073	V135A	probably benign	Het
Tns1	T	C	1: 73,927,979	T1212A	probably benign	Het
Trim2	G	A	3: 84,167,722	A697V	probably damaging	Het
Ubxn4	T	C	1: 128,258,940	S37P	possibly damaging	Het
Vmn2r17	A	G	5: 109,452,850	I671M	possibly damaging	Het
Vmn2r94	G	T	17: 18,243,804	S741R	probably damaging	Het
Vwce	C	A	19: 10,647,067	D414E	probably benign	Het
Zfp397	T	C	18: 23,960,192	S245P	possibly damaging	Het
Zfp809	T	A	9: 22,238,931	Y241*	probably null	Het
Zfp995	C	T	17: 21,882,029	C29Y	probably benign	Het
Zfyve26	T	C	12: 79,273,373	D1066G	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
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'- GACTTTTCATGTTAGGCTCCAGG -3'
(R):5'- TCAGGAGACAACTTGAATGGC -3'

Sequencing Primer
(F):5'- TGTGAAGACCCTTGCACC -3'
(R):5'- ACCCCAAGGATATCCTCT -3'

Posted On

2017-01-03