Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02830:Pde12'

361398

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pde12

Ensembl Gene

ENSMUSG00000043702

Gene Name

phosphodiesterase 12

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02830

Quality Score

Status

Chromosome

Chromosomal Location

26659958-26669883 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26668585 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 323 (Y323C)

Ref Sequence

ENSEMBL: ENSMUSP00000059666 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052932]

Predicted Effect

probably damaging
Transcript: ENSMUST00000052932
AA Change: Y323C

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

SMART Domains

Protein: ENSMUSP00000059666
Gene: ENSMUSG00000043702
AA Change: Y323C

Domain	Start	End	E-Value	Type
low complexity region	13	25	N/A	INTRINSIC
low complexity region	210	223	N/A	INTRINSIC
Pfam:Exo_endo_phos	297	598	1.2e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167376

SMART Domains

Protein: ENSMUSP00000127272
Gene: ENSMUSG00000021877

Domain	Start	End	E-Value	Type
Pfam:Arf	1	60	4.2e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180031

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184349

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	A	17: 48,037,426	E67D	possibly damaging	Het
9530053A07Rik	C	A	7: 28,162,923	H2471Q	probably damaging	Het
Acad11	T	A	9: 104,075,919	F116I	probably damaging	Het
Acox2	G	A	14: 8,255,298	T160I	probably damaging	Het
Anxa7	A	T	14: 20,456,540	M444K	possibly damaging	Het
Atg2a	A	G	19: 6,247,681	D423G	probably benign	Het
Cela3a	T	C	4: 137,401,635	N282S	probably benign	Het
Cyp2c50	G	A	19: 40,098,056	V296I	probably benign	Het
Fgd3	A	G	13: 49,264,631		probably benign	Het
Gimap8	G	A	6: 48,656,305	A353T	probably benign	Het
Grin3a	T	A	4: 49,702,787	M900L	possibly damaging	Het
H1f0	T	G	15: 79,029,311		probably benign	Het
Heatr1	T	C	13: 12,426,212	V1456A	possibly damaging	Het
Hsd17b7	C	T	1: 169,953,080	E320K	probably damaging	Het
Kbtbd3	T	A	9: 4,330,096	S157T	possibly damaging	Het
Kif19a	C	T	11: 114,781,208	T207M	probably damaging	Het
Klc1	T	C	12: 111,776,907	Y223H	probably damaging	Het
Klhl33	C	T	14: 50,891,757	V672M	probably damaging	Het
Lrrc49	G	A	9: 60,685,110	L34F	probably damaging	Het
Nalcn	C	T	14: 123,293,469	V1386I	probably damaging	Het
Olfr142	A	T	2: 90,252,781	I69N	probably damaging	Het
Olfr201	A	G	16: 59,269,053	S205P	possibly damaging	Het
Olfr292	T	G	7: 86,695,174	C239W	probably damaging	Het
Olfr65	C	T	7: 103,906,444	P2S	probably benign	Het
Orc5	A	T	5: 22,529,267	L173Q	probably damaging	Het
Otud4	T	G	8: 79,673,301	D880E	probably benign	Het
Pde8b	G	T	13: 95,052,901	D198E	probably benign	Het
Prom2	T	A	2: 127,535,069	I542F	possibly damaging	Het
Ptprj	G	A	2: 90,453,144	T952I	probably benign	Het
Ribc2	T	A	15: 85,132,257		probably benign	Het
Sec31b	C	T	19: 44,531,703	R214K	probably damaging	Het
Senp5	G	A	16: 31,983,485		probably benign	Het
Sh3pxd2a	G	A	19: 47,283,078	R249W	probably damaging	Het
Sorcs3	G	A	19: 48,723,002		probably null	Het
Spata31d1c	A	G	13: 65,035,366	T241A	probably benign	Het
Tac1	G	A	6: 7,555,650	V13I	probably benign	Het
Tnnc2	T	A	2: 164,777,510	D138V	probably null	Het
Tspan32	T	A	7: 143,017,592	M159K	possibly damaging	Het
Tsta3	C	T	15: 75,925,588	V275I	probably benign	Het
Ttc28	A	T	5: 111,286,239	T2380S	probably benign	Het
Ubc	T	A	5: 125,387,313	I317F	probably damaging	Het
Usp24	T	C	4: 106,347,387	S268P	possibly damaging	Het
Vmn2r91	C	A	17: 18,136,622	H850Q	probably benign	Het
Xrn1	T	C	9: 96,018,181		probably null	Het
Zfp329	A	C	7: 12,810,116	C494G	probably damaging	Het
Zfp54	T	C	17: 21,433,456	S71P	probably damaging	Het

Other mutations in Pde12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02085:Pde12	APN	14	26666464	unclassified	probably benign
IGL02306:Pde12	APN	14	26668378	missense	possibly damaging	0.83
IGL02630:Pde12	APN	14	26666397	missense	probably damaging	1.00
IGL03268:Pde12	APN	14	26668459	missense	probably benign	0.32
R1727:Pde12	UTSW	14	26668867	missense	probably benign	0.02
R2057:Pde12	UTSW	14	26668880	missense	probably benign
R2059:Pde12	UTSW	14	26668880	missense	probably benign
R2510:Pde12	UTSW	14	26665526	makesense	probably null
R4174:Pde12	UTSW	14	26668989	missense	probably benign	0.00
R5121:Pde12	UTSW	14	26669422	nonsense	probably null
R5190:Pde12	UTSW	14	26666377	critical splice donor site	probably null
R5387:Pde12	UTSW	14	26666453	missense	probably benign	0.00
R5847:Pde12	UTSW	14	26665631	missense	possibly damaging	0.96
R5987:Pde12	UTSW	14	26669098	missense	probably benign	0.02
R7495:Pde12	UTSW	14	26668839	missense	probably benign	0.19
R8021:Pde12	UTSW	14	26665699	nonsense	probably null

Posted On

2015-12-18