Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03268:Pde12'

415173

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pde12

Ensembl Gene

ENSMUSG00000043702

Gene Name

phosphodiesterase 12

Synonyms

E430028B21Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03268

Quality Score

Status

Chromosome

Chromosomal Location

26381113-26390823 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26389614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 365 (E365V)

Ref Sequence

ENSEMBL: ENSMUSP00000059666 (fasta)

Gene Model

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

AlphaFold

Q3TIU4

Predicted Effect

probably benign
Transcript: ENSMUST00000052932
AA Change: E365V

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000059666
Gene: ENSMUSG00000043702
AA Change: E365V

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500002C15Rik	G	T	4: 155,818,648 (GRCm39)		probably benign	Het
Acvrl1	A	T	15: 101,033,803 (GRCm39)	I162F	possibly damaging	Het
Adprhl1	A	G	8: 13,296,170 (GRCm39)		probably benign	Het
Anapc7	G	A	5: 122,567,669 (GRCm39)		probably null	Het
Ankrd13a	T	C	5: 114,930,296 (GRCm39)	L227P	probably damaging	Het
Anxa5	T	C	3: 36,504,828 (GRCm39)	I245V	probably benign	Het
Arf1	A	T	11: 59,103,663 (GRCm39)	V123E	possibly damaging	Het
Catsperg1	G	A	7: 28,899,668 (GRCm39)	R338C	probably damaging	Het
Cc2d1a	A	C	8: 84,860,154 (GRCm39)	L855R	probably damaging	Het
Cdh18	G	A	15: 23,366,953 (GRCm39)	A220T	probably damaging	Het
Cep350	T	C	1: 155,829,295 (GRCm39)	H203R	probably benign	Het
Cep78	G	T	19: 15,951,806 (GRCm39)	S333*	probably null	Het
Chrna2	T	A	14: 66,388,395 (GRCm39)		probably benign	Het
Dact1	T	C	12: 71,364,257 (GRCm39)	V346A	probably damaging	Het
Dcn	A	G	10: 97,319,240 (GRCm39)	I6V	probably benign	Het
Dlg3	A	G	X: 99,853,493 (GRCm39)	Y600C	probably damaging	Het
Dmd	A	G	X: 82,849,814 (GRCm39)	E1084G	probably damaging	Het
Epb41	A	C	4: 131,655,806 (GRCm39)	D825E	probably damaging	Het
Galc	T	A	12: 98,188,852 (GRCm39)		probably benign	Het
Hmcn1	T	A	1: 150,648,261 (GRCm39)	D675V	probably damaging	Het
Igkv2-137	A	G	6: 67,533,092 (GRCm39)	D85G	probably benign	Het
Kxd1	A	G	8: 70,961,136 (GRCm39)	I78T	probably damaging	Het
Lama1	G	A	17: 68,111,531 (GRCm39)	G2261R	probably damaging	Het
Lama2	A	T	10: 27,298,649 (GRCm39)	I149N	probably damaging	Het
Mbnl2	G	T	14: 120,616,569 (GRCm39)	C61F	probably damaging	Het
Mcts1	T	C	X: 37,690,859 (GRCm39)	I22T	possibly damaging	Het
Or4k15b	T	C	14: 50,272,024 (GRCm39)	T279A	probably damaging	Het
Or52e3	T	G	7: 102,869,848 (GRCm39)	F308V	probably benign	Het
Prl8a2	A	G	13: 27,537,938 (GRCm39)	K204R	probably benign	Het
Rnf25	A	T	1: 74,638,217 (GRCm39)		probably benign	Het
Rragb	A	G	X: 151,923,493 (GRCm39)	D5G	unknown	Het
Rsrc2	T	A	5: 123,878,790 (GRCm39)	K56*	probably null	Het
Scn5a	T	C	9: 119,350,297 (GRCm39)	Q859R	probably damaging	Het
Septin4	G	A	11: 87,480,529 (GRCm39)	V388M	probably damaging	Het
Slc29a2	C	T	19: 5,074,531 (GRCm39)		probably benign	Het
Slc30a5	G	A	13: 100,943,211 (GRCm39)	T549I	probably damaging	Het
Slc7a2	A	G	8: 41,365,554 (GRCm39)	T462A	probably benign	Het
Spsb2	A	G	6: 124,786,450 (GRCm39)	E61G	probably damaging	Het
Srr	A	G	11: 74,803,943 (GRCm39)	Y5H	probably benign	Het
Suclg2	T	C	6: 95,546,573 (GRCm39)	D301G	probably damaging	Het
Syt14	A	G	1: 192,669,142 (GRCm39)	V37A	probably benign	Het
Syt9	A	G	7: 107,035,612 (GRCm39)	N210D	probably benign	Het
Tenm3	T	C	8: 48,688,558 (GRCm39)	D2343G	probably damaging	Het
Tma7	A	G	9: 108,907,450 (GRCm39)		probably benign	Het
Tor3a	T	C	1: 156,497,020 (GRCm39)	D175G	probably damaging	Het
Tpo	G	T	12: 30,144,964 (GRCm39)	A595D	possibly damaging	Het
Tpst2	T	C	5: 112,456,091 (GRCm39)	V210A	probably damaging	Het
Uchl1	A	T	5: 66,839,824 (GRCm39)	E122V	probably benign	Het
Vmn1r210	A	T	13: 23,011,405 (GRCm39)	F294I	probably benign	Het

Other mutations in Pde12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02085:Pde12	APN	14	26,387,619 (GRCm39)	unclassified	probably benign
IGL02306:Pde12	APN	14	26,389,533 (GRCm39)	missense	possibly damaging	0.83
IGL02630:Pde12	APN	14	26,387,552 (GRCm39)	missense	probably damaging	1.00
IGL02830:Pde12	APN	14	26,389,740 (GRCm39)	missense	probably damaging	1.00
R1727:Pde12	UTSW	14	26,390,022 (GRCm39)	missense	probably benign	0.02
R2057:Pde12	UTSW	14	26,390,035 (GRCm39)	missense	probably benign
R2059:Pde12	UTSW	14	26,390,035 (GRCm39)	missense	probably benign
R2510:Pde12	UTSW	14	26,386,681 (GRCm39)	makesense	probably null
R4174:Pde12	UTSW	14	26,390,144 (GRCm39)	missense	probably benign	0.00
R5121:Pde12	UTSW	14	26,390,577 (GRCm39)	nonsense	probably null
R5190:Pde12	UTSW	14	26,387,532 (GRCm39)	critical splice donor site	probably null
R5387:Pde12	UTSW	14	26,387,608 (GRCm39)	missense	probably benign	0.00
R5847:Pde12	UTSW	14	26,386,786 (GRCm39)	missense	possibly damaging	0.96
R5987:Pde12	UTSW	14	26,390,253 (GRCm39)	missense	probably benign	0.02
R7495:Pde12	UTSW	14	26,389,994 (GRCm39)	missense	probably benign	0.19
R8021:Pde12	UTSW	14	26,386,854 (GRCm39)	nonsense	probably null
R8865:Pde12	UTSW	14	26,390,280 (GRCm39)	missense	possibly damaging	0.51
R8898:Pde12	UTSW	14	26,390,577 (GRCm39)	missense	probably benign	0.22
R9300:Pde12	UTSW	14	26,386,931 (GRCm39)	missense	probably damaging	0.98
R9331:Pde12	UTSW	14	26,389,828 (GRCm39)	missense	probably benign
R9604:Pde12	UTSW	14	26,390,008 (GRCm39)	missense	possibly damaging	0.63
R9739:Pde12	UTSW	14	26,386,757 (GRCm39)	missense	possibly damaging	0.66

Posted On

2016-08-02