Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02306:Pde12'

287607

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 #

IGL02306

Quality Score

Status

Chromosome

Chromosomal Location

26659958-26669883 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26668378 bp

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]

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: 122,158,395	Y680C	probably damaging	Het
Abcb11	C	T	2: 69,265,457	W846*	probably null	Het
Adam34	G	A	8: 43,650,485	R708C	probably benign	Het
Adam6a	T	A	12: 113,545,723	L572Q	possibly damaging	Het
Aldoart2	A	G	12: 55,565,704	Y138C	probably damaging	Het
Amigo1	T	A	3: 108,187,986	F267Y	probably benign	Het
Car7	A	G	8: 104,548,998	Y137C	probably damaging	Het
Ccar2	A	T	14: 70,142,022	M509K	probably benign	Het
Cd160	A	T	3: 96,808,823	I17N	possibly damaging	Het
Cd163l1	T	C	7: 140,223,356	C278R	probably damaging	Het
Cmya5	C	T	13: 93,098,019	G187D	probably damaging	Het
Crot	A	T	5: 8,968,701	V555E	possibly damaging	Het
Cstf1	C	T	2: 172,372,971	T4I	probably benign	Het
Cyp2a12	A	G	7: 27,032,583	K250E	probably damaging	Het
Deaf1	T	C	7: 141,324,181		probably null	Het
Dse	C	T	10: 34,160,134	E249K	probably damaging	Het
E4f1	G	T	17: 24,446,929	R88S	probably damaging	Het
Fam160b2	T	C	14: 70,588,997	D217G	probably benign	Het
Fam83a	A	C	15: 57,995,308	D248A	probably damaging	Het
Hadhb	T	A	5: 30,166,749	L66Q	probably null	Het
Kalrn	T	C	16: 34,310,527	E440G	probably damaging	Het
Kif3b	A	G	2: 153,320,652	Y527C	probably damaging	Het
Krt4	T	C	15: 101,921,305	I263V	probably benign	Het
Krtap29-1	A	T	11: 99,978,266	V263E	probably damaging	Het
Mms19	A	G	19: 41,966,264	L72P	probably damaging	Het
Mylpf	T	A	7: 127,213,158		probably benign	Het
Nalcn	T	A	14: 123,323,338	I776F	probably benign	Het
Nedd4l	T	G	18: 65,172,954	S292R	possibly damaging	Het
Nlrc3	A	C	16: 3,964,824	D240E	probably damaging	Het
Obscn	A	T	11: 58,999,671	I7345N	unknown	Het
Olfr1189	A	T	2: 88,592,606	K267N	probably benign	Het
Ostn	A	T	16: 27,346,941	S127C	probably damaging	Het
Patl1	A	G	19: 11,942,886	K735E	possibly damaging	Het
Plxdc2	A	G	2: 16,660,774	I213V	probably benign	Het
Plxna4	T	A	6: 32,206,124	Y948F	probably benign	Het
Prlhr	A	T	19: 60,467,915	V71E	probably damaging	Het
Prlr	C	T	15: 10,328,674	P412S	probably benign	Het
Prmt9	A	G	8: 77,560,818	K196R	probably benign	Het
Rundc3a	T	A	11: 102,400,938	L387Q	probably damaging	Het
Ryr3	T	C	2: 112,834,114	I1611V	probably damaging	Het
Ryr3	A	G	2: 112,847,399		probably null	Het
Sfxn2	T	A	19: 46,590,548	M240K	probably damaging	Het
Skor2	T	C	18: 76,862,679	S901P	probably benign	Het
Smad4	T	C	18: 73,662,869		probably null	Het
Snrnp40	T	G	4: 130,365,100	C100W	probably benign	Het
Spink5	T	A	18: 43,964,444	D19E	probably damaging	Het
Sult1d1	T	A	5: 87,556,055		probably benign	Het
Wdr59	G	A	8: 111,492,733	L231F	probably damaging	Het

Other mutations in Pde12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02085:Pde12	APN	14	26666464	unclassified	probably benign
IGL02630:Pde12	APN	14	26666397	missense	probably damaging	1.00
IGL02830:Pde12	APN	14	26668585	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

2015-04-16