Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02306:Pde12'

287607

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 #

IGL02306

Quality Score

Status

Chromosome

Chromosomal Location

26381113-26390823 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26389533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 392 (L392P)

Ref Sequence

ENSEMBL: ENSMUSP00000059666 (fasta)

Gene Model

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

AlphaFold

Q3TIU4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052932
AA Change: L392P

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000059666
Gene: ENSMUSG00000043702
AA Change: L392P

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,952,044 (GRCm39)	Y680C	probably damaging	Het
Abcb11	C	T	2: 69,095,801 (GRCm39)	W846*	probably null	Het
Adam34	G	A	8: 44,103,522 (GRCm39)	R708C	probably benign	Het
Adam6a	T	A	12: 113,509,343 (GRCm39)	L572Q	possibly damaging	Het
Aldoart2	A	G	12: 55,612,489 (GRCm39)	Y138C	probably damaging	Het
Amigo1	T	A	3: 108,095,302 (GRCm39)	F267Y	probably benign	Het
Car7	A	G	8: 105,275,630 (GRCm39)	Y137C	probably damaging	Het
Ccar2	A	T	14: 70,379,471 (GRCm39)	M509K	probably benign	Het
Cd160	A	T	3: 96,716,139 (GRCm39)	I17N	possibly damaging	Het
Cmya5	C	T	13: 93,234,527 (GRCm39)	G187D	probably damaging	Het
Crot	A	T	5: 9,018,701 (GRCm39)	V555E	possibly damaging	Het
Cstf1	C	T	2: 172,214,891 (GRCm39)	T4I	probably benign	Het
Cyp2a12	A	G	7: 26,732,008 (GRCm39)	K250E	probably damaging	Het
Deaf1	T	C	7: 140,904,094 (GRCm39)		probably null	Het
Dse	C	T	10: 34,036,130 (GRCm39)	E249K	probably damaging	Het
E4f1	G	T	17: 24,665,903 (GRCm39)	R88S	probably damaging	Het
Fam83a	A	C	15: 57,858,704 (GRCm39)	D248A	probably damaging	Het
Fhip2b	T	C	14: 70,826,437 (GRCm39)	D217G	probably benign	Het
Hadhb	T	A	5: 30,371,747 (GRCm39)	L66Q	probably null	Het
Kalrn	T	C	16: 34,130,897 (GRCm39)	E440G	probably damaging	Het
Kif3b	A	G	2: 153,162,572 (GRCm39)	Y527C	probably damaging	Het
Krt4	T	C	15: 101,829,740 (GRCm39)	I263V	probably benign	Het
Krtap29-1	A	T	11: 99,869,092 (GRCm39)	V263E	probably damaging	Het
Mms19	A	G	19: 41,954,703 (GRCm39)	L72P	probably damaging	Het
Mylpf	T	A	7: 126,812,330 (GRCm39)		probably benign	Het
Nalcn	T	A	14: 123,560,750 (GRCm39)	I776F	probably benign	Het
Nedd4l	T	G	18: 65,306,025 (GRCm39)	S292R	possibly damaging	Het
Nlrc3	A	C	16: 3,782,688 (GRCm39)	D240E	probably damaging	Het
Obscn	A	T	11: 58,890,497 (GRCm39)	I7345N	unknown	Het
Or4c102	A	T	2: 88,422,950 (GRCm39)	K267N	probably benign	Het
Ostn	A	T	16: 27,165,691 (GRCm39)	S127C	probably damaging	Het
Patl1	A	G	19: 11,920,250 (GRCm39)	K735E	possibly damaging	Het
Plxdc2	A	G	2: 16,665,585 (GRCm39)	I213V	probably benign	Het
Plxna4	T	A	6: 32,183,059 (GRCm39)	Y948F	probably benign	Het
Prlhr	A	T	19: 60,456,353 (GRCm39)	V71E	probably damaging	Het
Prlr	C	T	15: 10,328,760 (GRCm39)	P412S	probably benign	Het
Prmt9	A	G	8: 78,287,447 (GRCm39)	K196R	probably benign	Het
Rundc3a	T	A	11: 102,291,764 (GRCm39)	L387Q	probably damaging	Het
Ryr3	T	C	2: 112,664,459 (GRCm39)	I1611V	probably damaging	Het
Ryr3	A	G	2: 112,677,744 (GRCm39)		probably null	Het
Scart1	T	C	7: 139,803,269 (GRCm39)	C278R	probably damaging	Het
Sfxn2	T	A	19: 46,578,987 (GRCm39)	M240K	probably damaging	Het
Skor2	T	C	18: 76,950,374 (GRCm39)	S901P	probably benign	Het
Smad4	T	C	18: 73,795,940 (GRCm39)		probably null	Het
Snrnp40	T	G	4: 130,258,893 (GRCm39)	C100W	probably benign	Het
Spink5	T	A	18: 44,097,511 (GRCm39)	D19E	probably damaging	Het
Sult1d1	T	A	5: 87,703,914 (GRCm39)		probably benign	Het
Wdr59	G	A	8: 112,219,365 (GRCm39)	L231F	probably damaging	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
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