Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02085:Pde12'

283533

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 #

IGL02085

Quality Score

Status

Chromosome

Chromosomal Location

26381113-26390823 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 26387619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q3TIU4

Predicted Effect

probably benign
Transcript: ENSMUST00000052932

SMART Domains

Protein: ENSMUSP00000059666
Gene: ENSMUSG00000043702

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
Abcg4	A	G	9: 44,192,854 (GRCm39)		probably null	Het
Akr1c14	T	A	13: 4,128,035 (GRCm39)	C145*	probably null	Het
Arhgef26	A	G	3: 62,367,145 (GRCm39)		probably benign	Het
Asb9	A	G	X: 163,318,452 (GRCm39)	M215V	probably benign	Het
Atoh8	C	A	6: 72,212,157 (GRCm39)		probably benign	Het
Atp6v1b1	T	A	6: 83,730,897 (GRCm39)		probably benign	Het
Cep97	T	C	16: 55,735,868 (GRCm39)	E310G	probably damaging	Het
Ctrc	C	T	4: 141,571,025 (GRCm39)	D72N	possibly damaging	Het
Dnah2	A	G	11: 69,349,011 (GRCm39)	I2492T	probably benign	Het
Emilin2	A	G	17: 71,582,144 (GRCm39)	V194A	probably damaging	Het
Epb41l5	T	C	1: 119,500,586 (GRCm39)	T524A	probably benign	Het
Fam91a1	A	G	15: 58,313,505 (GRCm39)	N497S	possibly damaging	Het
Gabpb1	A	T	2: 126,481,191 (GRCm39)	C319*	probably null	Het
Galnt10	A	G	11: 57,673,104 (GRCm39)	T487A	probably benign	Het
Hecw2	T	A	1: 53,981,961 (GRCm39)		probably null	Het
Hmg20a	C	T	9: 56,384,586 (GRCm39)	Q119*	probably null	Het
Ifi44l	A	G	3: 151,468,477 (GRCm39)	S18P	unknown	Het
Immt	T	A	6: 71,828,820 (GRCm39)	V125E	probably benign	Het
Ints13	T	C	6: 146,451,437 (GRCm39)		probably benign	Het
Lrp1b	C	T	2: 40,779,321 (GRCm39)	G2574S	probably benign	Het
Myoc	T	C	1: 162,467,343 (GRCm39)	C171R	probably benign	Het
Ncbp1	C	T	4: 46,159,699 (GRCm39)	T404M	probably damaging	Het
Npy6r	A	G	18: 44,408,998 (GRCm39)	N140D	probably damaging	Het
Nrxn2	A	T	19: 6,542,898 (GRCm39)	M1041L	possibly damaging	Het
Nsmaf	G	A	4: 6,398,551 (GRCm39)	P851L	probably benign	Het
Nutm2	T	A	13: 50,627,829 (GRCm39)		probably null	Het
Or10ak8	A	G	4: 118,773,947 (GRCm39)	F239S	probably damaging	Het
Or2g25	A	G	17: 37,970,579 (GRCm39)	V215A	probably benign	Het
Or4f61	A	C	2: 111,922,869 (GRCm39)	M59R	probably damaging	Het
Padi2	T	G	4: 140,654,468 (GRCm39)	Y206*	probably null	Het
Pcdh19	A	T	X: 132,582,007 (GRCm39)	Y766*	probably null	Het
Ppl	C	T	16: 4,907,680 (GRCm39)	G872R	probably benign	Het
Prkag3	C	T	1: 74,787,971 (GRCm39)		probably benign	Het
Ptgfr	T	C	3: 151,541,437 (GRCm39)	T24A	probably benign	Het
Rpe65	T	C	3: 159,321,283 (GRCm39)	V365A	probably benign	Het
Shank3	T	C	15: 89,388,118 (GRCm39)		probably null	Het
Slco1a6	T	C	6: 142,032,200 (GRCm39)	T642A	probably benign	Het
Slco6d1	C	A	1: 98,371,468 (GRCm39)	P275T	probably damaging	Het
Smarca1	G	T	X: 46,964,109 (GRCm39)	Q343K	probably damaging	Het
Smoc2	A	G	17: 14,567,495 (GRCm39)	T180A	possibly damaging	Het
Tfrc	G	A	16: 32,440,004 (GRCm39)	V406I	probably benign	Het
Tigit	C	T	16: 43,469,473 (GRCm39)	G206D	probably benign	Het
Triobp	G	A	15: 78,858,497 (GRCm39)		probably benign	Het
Trmo	T	C	4: 46,380,217 (GRCm39)	Y384C	probably damaging	Het
Vmn1r89	T	A	7: 12,953,465 (GRCm39)	I67N	probably damaging	Het
Wdr17	C	A	8: 55,140,771 (GRCm39)	E194*	probably null	Het

Other mutations in Pde12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL03268:Pde12	APN	14	26,389,614 (GRCm39)	missense	probably benign	0.32
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

2015-04-16