Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01880:Ppp1r12b'

179025

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppp1r12b

Ensembl Gene

ENSMUSG00000073557

Gene Name

protein phosphatase 1, regulatory (inhibitor) subunit 12B

Synonyms

9530009M10Rik, 1810037O03Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.295) question?

Stock #

IGL01880

Quality Score

Status

Chromosome

Chromosomal Location

134754658-134955942 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 134886421 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131406 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045665] [ENSMUST00000086444] [ENSMUST00000168381]

Predicted Effect

probably null
Transcript: ENSMUST00000045665

SMART Domains

Protein: ENSMUSP00000047463
Gene: ENSMUSG00000073557

Domain	Start	End	E-Value	Type
low complexity region	11	27	N/A	INTRINSIC
ANK	56	86	8.36e1	SMART
ANK	90	119	5.32e-5	SMART
ANK	123	152	1.08e-5	SMART
ANK	216	245	1.51e-4	SMART
ANK	249	278	3.85e-2	SMART
low complexity region	351	379	N/A	INTRINSIC
low complexity region	411	423	N/A	INTRINSIC
low complexity region	465	477	N/A	INTRINSIC
internal_repeat_3	539	576	2.45e-5	PROSPERO
PDB:2KJY\|A	608	663	3e-12	PDB
internal_repeat_3	729	766	2.45e-5	PROSPERO
low complexity region	790	800	N/A	INTRINSIC
low complexity region	840	864	N/A	INTRINSIC
coiled coil region	867	974	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000086444

SMART Domains

Protein: ENSMUSP00000083633
Gene: ENSMUSG00000073557

Domain	Start	End	E-Value	Type
low complexity region	11	27	N/A	INTRINSIC
ANK	56	86	8.36e1	SMART
ANK	90	119	5.32e-5	SMART
ANK	123	152	1.08e-5	SMART
ANK	216	245	1.51e-4	SMART
ANK	249	278	3.85e-2	SMART
low complexity region	351	379	N/A	INTRINSIC
low complexity region	411	423	N/A	INTRINSIC
low complexity region	465	477	N/A	INTRINSIC
internal_repeat_3	539	576	1.9e-5	PROSPERO
PDB:2KJY\|A	608	663	3e-12	PDB
internal_repeat_3	729	766	1.9e-5	PROSPERO
low complexity region	790	800	N/A	INTRINSIC
low complexity region	840	864	N/A	INTRINSIC
Pfam:PRKG1_interact	875	982	4.6e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132025

Predicted Effect

probably null
Transcript: ENSMUST00000168381

SMART Domains

Protein: ENSMUSP00000131406
Gene: ENSMUSG00000073557

Domain	Start	End	E-Value	Type
low complexity region	11	27	N/A	INTRINSIC
ANK	56	86	8.36e1	SMART
ANK	90	119	5.32e-5	SMART
ANK	123	152	1.08e-5	SMART
ANK	216	245	1.51e-4	SMART
ANK	249	278	3.85e-2	SMART
low complexity region	351	379	N/A	INTRINSIC
low complexity region	411	423	N/A	INTRINSIC
low complexity region	465	477	N/A	INTRINSIC
internal_repeat_3	539	576	1.9e-5	PROSPERO
PDB:2KJY\|A	608	663	3e-12	PDB
internal_repeat_3	729	766	1.9e-5	PROSPERO
low complexity region	790	800	N/A	INTRINSIC
low complexity region	840	864	N/A	INTRINSIC
coiled coil region	867	986	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	C	A	17: 33,066,716	V371L	probably damaging	Het
Abca5	T	C	11: 110,293,263	T1003A	probably benign	Het
C130026I21Rik	A	G	1: 85,254,186		probably benign	Het
Capn8	T	C	1: 182,597,576	F143S	probably damaging	Het
Dnaaf2	A	T	12: 69,190,037	L766I	probably benign	Het
Gle1	T	A	2: 29,943,750	S386R	possibly damaging	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Klrb1	A	T	6: 128,712,319	V63E	possibly damaging	Het
Mettl1	A	G	10: 127,044,623	H138R	probably damaging	Het
Olfr229	T	A	9: 39,909,941	I46N	possibly damaging	Het
Olfr371	A	G	8: 85,231,083	N196S	probably benign	Het
Shtn1	A	C	19: 59,075,449		probably benign	Het
Slc22a15	T	C	3: 101,860,848	R503G	probably benign	Het
Smarcd2	G	A	11: 106,266,677	R148W	probably damaging	Het
Ssc5d	T	A	7: 4,933,219	V488E	probably damaging	Het
Vmn2r57	A	G	7: 41,400,195	I710T	possibly damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Vps41	T	G	13: 18,810,471	S163A	probably benign	Het
Zc3h6	C	T	2: 129,017,378	L1110F	probably damaging	Het

Other mutations in Ppp1r12b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01358:Ppp1r12b	APN	1	134892159	missense	probably damaging	1.00
IGL01788:Ppp1r12b	APN	1	134893507	missense	possibly damaging	0.66
IGL02109:Ppp1r12b	APN	1	134872805	critical splice donor site	probably null
IGL02247:Ppp1r12b	APN	1	134835983	missense	probably benign
IGL02336:Ppp1r12b	APN	1	134886506	missense	probably damaging	1.00
IGL02903:Ppp1r12b	APN	1	134955649	missense	probably benign
IGL02963:Ppp1r12b	APN	1	134886548	missense	probably damaging	1.00
IGL03074:Ppp1r12b	APN	1	134836020	missense	probably benign	0.01
IGL03302:Ppp1r12b	APN	1	134838050	splice site	probably benign
R0102:Ppp1r12b	UTSW	1	134835899	critical splice acceptor site	probably null
R0102:Ppp1r12b	UTSW	1	134835899	critical splice acceptor site	probably null
R0189:Ppp1r12b	UTSW	1	134865776	critical splice donor site	probably null
R0556:Ppp1r12b	UTSW	1	134777322	missense	probably damaging	1.00
R0594:Ppp1r12b	UTSW	1	134776479	missense	probably damaging	1.00
R0690:Ppp1r12b	UTSW	1	134876082	missense	probably damaging	1.00
R1354:Ppp1r12b	UTSW	1	134835983	missense	probably benign	0.42
R1676:Ppp1r12b	UTSW	1	134777452	missense	probably damaging	1.00
R1775:Ppp1r12b	UTSW	1	134893348	critical splice donor site	probably null
R1839:Ppp1r12b	UTSW	1	134837981	missense	probably benign	0.32
R1946:Ppp1r12b	UTSW	1	134892270	missense	probably damaging	1.00
R1971:Ppp1r12b	UTSW	1	134865913	missense	probably benign	0.00
R1997:Ppp1r12b	UTSW	1	134846355	intron	probably benign
R3110:Ppp1r12b	UTSW	1	134872832	missense	probably damaging	1.00
R3112:Ppp1r12b	UTSW	1	134872832	missense	probably damaging	1.00
R3908:Ppp1r12b	UTSW	1	134842732	missense	probably damaging	1.00
R3912:Ppp1r12b	UTSW	1	134887318	missense	probably damaging	1.00
R3977:Ppp1r12b	UTSW	1	134765975	missense	probably benign	0.00
R4243:Ppp1r12b	UTSW	1	134782108	intron	probably benign
R4835:Ppp1r12b	UTSW	1	134955733	missense	probably benign	0.21
R4836:Ppp1r12b	UTSW	1	134955733	missense	probably benign	0.21
R4843:Ppp1r12b	UTSW	1	134955733	missense	probably benign	0.21
R4854:Ppp1r12b	UTSW	1	134873951	missense	probably damaging	1.00
R4870:Ppp1r12b	UTSW	1	134949033	missense	probably benign	0.00
R4881:Ppp1r12b	UTSW	1	134955733	missense	probably benign	0.21
R5024:Ppp1r12b	UTSW	1	134955733	missense	probably benign	0.21
R5054:Ppp1r12b	UTSW	1	134955733	missense	probably benign	0.21
R5055:Ppp1r12b	UTSW	1	134955733	missense	probably benign	0.21
R5056:Ppp1r12b	UTSW	1	134834392	intron	probably benign
R5056:Ppp1r12b	UTSW	1	134955733	missense	probably benign	0.21
R5158:Ppp1r12b	UTSW	1	134886428	missense	probably damaging	1.00
R5599:Ppp1r12b	UTSW	1	134865907	missense	probably benign	0.08
R5771:Ppp1r12b	UTSW	1	134773424	critical splice donor site	probably null
R5775:Ppp1r12b	UTSW	1	134876042	missense	probably benign
R5872:Ppp1r12b	UTSW	1	134776406	missense	probably benign	0.03
R5896:Ppp1r12b	UTSW	1	134765981	missense	probably damaging	1.00
R6060:Ppp1r12b	UTSW	1	134955524	missense	possibly damaging	0.82
R6129:Ppp1r12b	UTSW	1	134892252	nonsense	probably null
R6369:Ppp1r12b	UTSW	1	134886542	missense	possibly damaging	0.93
R6868:Ppp1r12b	UTSW	1	134886438	missense	probably benign	0.00
R7681:Ppp1r12b	UTSW	1	134865935	missense	probably benign	0.02
R8057:Ppp1r12b	UTSW	1	134955616	missense	probably damaging	1.00
R8070:Ppp1r12b	UTSW	1	134876069	missense	probably benign	0.06
X0022:Ppp1r12b	UTSW	1	134835873	missense	probably benign	0.00
X0027:Ppp1r12b	UTSW	1	134896354	missense	probably damaging	1.00

Posted On

2014-05-07