Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03302:Ppp1r12b'

416273

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppp1r12b

Ensembl Gene

ENSMUSG00000073557

Gene Name

protein phosphatase 1, regulatory subunit 12B

Synonyms

1810037O03Rik, 9530009M10Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.265) question?

Stock #

IGL03302

Quality Score

Status

Chromosome

Chromosomal Location

134682396-134883680 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 134765788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131406 (fasta)

Gene Model

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

AlphaFold

Q8BG95

Predicted Effect

probably benign
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 benign
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

noncoding transcript
Transcript: ENSMUST00000146639

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156348

Predicted Effect

probably benign
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188123

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,858,576 (GRCm39)	Y542F	possibly damaging	Het
Ankrd34b	A	T	13: 92,576,151 (GRCm39)	N461I	possibly damaging	Het
Ccl24	T	C	5: 135,599,732 (GRCm39)	K93E	probably benign	Het
Ccr9	T	A	9: 123,608,601 (GRCm39)	D94E	probably damaging	Het
Cd79a	G	A	7: 24,598,759 (GRCm39)	V103M	probably damaging	Het
Ces1e	A	G	8: 93,950,521 (GRCm39)		probably null	Het
Cul9	T	C	17: 46,837,566 (GRCm39)	E993G	probably damaging	Het
Cyp4a14	T	C	4: 115,348,575 (GRCm39)	I330V	probably benign	Het
Cyp7a1	T	C	4: 6,273,801 (GRCm39)	D35G	probably benign	Het
Dmpk	C	A	7: 18,820,411 (GRCm39)		probably benign	Het
Gcnt1	G	T	19: 17,306,547 (GRCm39)	R393S	probably benign	Het
Lctl	C	T	9: 64,042,130 (GRCm39)		probably benign	Het
Mttp	A	T	3: 137,810,468 (GRCm39)	I664N	possibly damaging	Het
Myh1	C	T	11: 67,102,328 (GRCm39)	A873V	probably benign	Het
Nedd9	A	G	13: 41,492,330 (GRCm39)	V54A	probably damaging	Het
Or3a1b	T	G	11: 74,012,459 (GRCm39)	C115G	possibly damaging	Het
Or4f14	A	T	2: 111,743,167 (GRCm39)	V36E	possibly damaging	Het
Or6b1	G	T	6: 42,814,937 (GRCm39)	E41*	probably null	Het
Pak6	A	T	2: 118,523,784 (GRCm39)	E313V	probably benign	Het
Pla2g4a	A	G	1: 149,740,698 (GRCm39)	S402P	probably benign	Het
Polq	T	C	16: 36,892,134 (GRCm39)	M2012T	probably damaging	Het
Rbp3	A	G	14: 33,676,616 (GRCm39)	H188R	probably damaging	Het
Rps6ka2	C	A	17: 7,566,787 (GRCm39)	Q682K	possibly damaging	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Spag4	A	G	2: 155,910,340 (GRCm39)	Q322R	probably damaging	Het
Spef2	T	C	15: 9,676,466 (GRCm39)	T702A	probably benign	Het
Spmap2l	T	G	5: 77,202,423 (GRCm39)	S281R	probably benign	Het
Taf3	G	T	2: 9,956,942 (GRCm39)	F408L	probably damaging	Het
Tead2	T	G	7: 44,882,323 (GRCm39)	Y121D	possibly damaging	Het
Tmco5	A	T	2: 116,722,760 (GRCm39)	T294S	probably damaging	Het
Trim37	A	G	11: 87,037,827 (GRCm39)	E187G	possibly damaging	Het
Ubb	T	A	11: 62,443,243 (GRCm39)	L91Q	probably damaging	Het
Ugt2a3	G	A	5: 87,484,439 (GRCm39)	P195L	probably damaging	Het
Zan	T	C	5: 137,466,652 (GRCm39)	S402G	possibly damaging	Het
Zc3h7a	T	A	16: 10,959,574 (GRCm39)	H793L	probably damaging	Het
Zfhx4	C	T	3: 5,468,773 (GRCm39)	T2977I	possibly damaging	Het

Other mutations in Ppp1r12b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01358:Ppp1r12b	APN	1	134,819,897 (GRCm39)	missense	probably damaging	1.00
IGL01788:Ppp1r12b	APN	1	134,821,245 (GRCm39)	missense	possibly damaging	0.66
IGL01880:Ppp1r12b	APN	1	134,814,159 (GRCm39)	critical splice donor site	probably null
IGL02109:Ppp1r12b	APN	1	134,800,543 (GRCm39)	critical splice donor site	probably null
IGL02247:Ppp1r12b	APN	1	134,763,721 (GRCm39)	missense	probably benign
IGL02336:Ppp1r12b	APN	1	134,814,244 (GRCm39)	missense	probably damaging	1.00
IGL02903:Ppp1r12b	APN	1	134,883,387 (GRCm39)	missense	probably benign
IGL02963:Ppp1r12b	APN	1	134,814,286 (GRCm39)	missense	probably damaging	1.00
IGL03074:Ppp1r12b	APN	1	134,763,758 (GRCm39)	missense	probably benign	0.01
R0102:Ppp1r12b	UTSW	1	134,763,637 (GRCm39)	critical splice acceptor site	probably null
R0102:Ppp1r12b	UTSW	1	134,763,637 (GRCm39)	critical splice acceptor site	probably null
R0189:Ppp1r12b	UTSW	1	134,793,514 (GRCm39)	critical splice donor site	probably null
R0556:Ppp1r12b	UTSW	1	134,705,060 (GRCm39)	missense	probably damaging	1.00
R0594:Ppp1r12b	UTSW	1	134,704,217 (GRCm39)	missense	probably damaging	1.00
R0690:Ppp1r12b	UTSW	1	134,803,820 (GRCm39)	missense	probably damaging	1.00
R1354:Ppp1r12b	UTSW	1	134,763,721 (GRCm39)	missense	probably benign	0.42
R1676:Ppp1r12b	UTSW	1	134,705,190 (GRCm39)	missense	probably damaging	1.00
R1775:Ppp1r12b	UTSW	1	134,821,086 (GRCm39)	critical splice donor site	probably null
R1839:Ppp1r12b	UTSW	1	134,765,719 (GRCm39)	missense	probably benign	0.32
R1946:Ppp1r12b	UTSW	1	134,820,008 (GRCm39)	missense	probably damaging	1.00
R1971:Ppp1r12b	UTSW	1	134,793,651 (GRCm39)	missense	probably benign	0.00
R1997:Ppp1r12b	UTSW	1	134,774,093 (GRCm39)	intron	probably benign
R3110:Ppp1r12b	UTSW	1	134,800,570 (GRCm39)	missense	probably damaging	1.00
R3112:Ppp1r12b	UTSW	1	134,800,570 (GRCm39)	missense	probably damaging	1.00
R3908:Ppp1r12b	UTSW	1	134,770,470 (GRCm39)	missense	probably damaging	1.00
R3912:Ppp1r12b	UTSW	1	134,815,056 (GRCm39)	missense	probably damaging	1.00
R3977:Ppp1r12b	UTSW	1	134,693,713 (GRCm39)	missense	probably benign	0.00
R4243:Ppp1r12b	UTSW	1	134,709,846 (GRCm39)	intron	probably benign
R4835:Ppp1r12b	UTSW	1	134,883,471 (GRCm39)	missense	probably benign	0.21
R4836:Ppp1r12b	UTSW	1	134,883,471 (GRCm39)	missense	probably benign	0.21
R4843:Ppp1r12b	UTSW	1	134,883,471 (GRCm39)	missense	probably benign	0.21
R4854:Ppp1r12b	UTSW	1	134,801,689 (GRCm39)	missense	probably damaging	1.00
R4870:Ppp1r12b	UTSW	1	134,876,771 (GRCm39)	missense	probably benign	0.00
R4881:Ppp1r12b	UTSW	1	134,883,471 (GRCm39)	missense	probably benign	0.21
R5024:Ppp1r12b	UTSW	1	134,883,471 (GRCm39)	missense	probably benign	0.21
R5054:Ppp1r12b	UTSW	1	134,883,471 (GRCm39)	missense	probably benign	0.21
R5055:Ppp1r12b	UTSW	1	134,883,471 (GRCm39)	missense	probably benign	0.21
R5056:Ppp1r12b	UTSW	1	134,883,471 (GRCm39)	missense	probably benign	0.21
R5056:Ppp1r12b	UTSW	1	134,762,130 (GRCm39)	intron	probably benign
R5158:Ppp1r12b	UTSW	1	134,814,166 (GRCm39)	missense	probably damaging	1.00
R5599:Ppp1r12b	UTSW	1	134,793,645 (GRCm39)	missense	probably benign	0.08
R5771:Ppp1r12b	UTSW	1	134,701,162 (GRCm39)	critical splice donor site	probably null
R5775:Ppp1r12b	UTSW	1	134,803,780 (GRCm39)	missense	probably benign
R5872:Ppp1r12b	UTSW	1	134,704,144 (GRCm39)	missense	probably benign	0.03
R5896:Ppp1r12b	UTSW	1	134,693,719 (GRCm39)	missense	probably damaging	1.00
R6060:Ppp1r12b	UTSW	1	134,883,262 (GRCm39)	missense	probably benign	0.02
R6129:Ppp1r12b	UTSW	1	134,819,990 (GRCm39)	nonsense	probably null
R6369:Ppp1r12b	UTSW	1	134,814,280 (GRCm39)	missense	possibly damaging	0.93
R6868:Ppp1r12b	UTSW	1	134,814,176 (GRCm39)	missense	probably benign	0.00
R7681:Ppp1r12b	UTSW	1	134,793,673 (GRCm39)	missense	probably benign	0.02
R7940:Ppp1r12b	UTSW	1	134,803,793 (GRCm39)	missense	probably benign	0.00
R8057:Ppp1r12b	UTSW	1	134,883,354 (GRCm39)	missense	probably damaging	1.00
R8070:Ppp1r12b	UTSW	1	134,803,807 (GRCm39)	missense	probably benign	0.06
R8134:Ppp1r12b	UTSW	1	134,814,280 (GRCm39)	missense	possibly damaging	0.93
R8147:Ppp1r12b	UTSW	1	134,801,680 (GRCm39)	missense	possibly damaging	0.78
R8224:Ppp1r12b	UTSW	1	134,830,200 (GRCm39)	missense	probably benign	0.19
R8270:Ppp1r12b	UTSW	1	134,803,886 (GRCm39)	missense	probably benign	0.37
R8304:Ppp1r12b	UTSW	1	134,824,101 (GRCm39)	missense	possibly damaging	0.65
R8803:Ppp1r12b	UTSW	1	134,818,492 (GRCm39)	critical splice donor site	probably benign
R8826:Ppp1r12b	UTSW	1	134,693,730 (GRCm39)	missense	probably benign	0.18
R8954:Ppp1r12b	UTSW	1	134,762,200 (GRCm39)	missense	probably benign	0.00
R9081:Ppp1r12b	UTSW	1	134,705,085 (GRCm39)	missense	probably benign	0.18
R9171:Ppp1r12b	UTSW	1	134,801,725 (GRCm39)	missense	probably benign	0.01
R9223:Ppp1r12b	UTSW	1	134,807,376 (GRCm39)	missense	probably benign	0.00
R9521:Ppp1r12b	UTSW	1	134,705,063 (GRCm39)	missense	probably damaging	1.00
R9609:Ppp1r12b	UTSW	1	134,824,084 (GRCm39)	nonsense	probably null
X0022:Ppp1r12b	UTSW	1	134,763,611 (GRCm39)	missense	probably benign	0.00
X0027:Ppp1r12b	UTSW	1	134,824,092 (GRCm39)	missense	probably damaging	1.00
Z1187:Ppp1r12b	UTSW	1	134,883,262 (GRCm39)	missense	probably benign	0.02
Z1189:Ppp1r12b	UTSW	1	134,883,262 (GRCm39)	missense	probably benign	0.02
Z1190:Ppp1r12b	UTSW	1	134,883,262 (GRCm39)	missense	probably benign	0.02
Z1192:Ppp1r12b	UTSW	1	134,883,262 (GRCm39)	missense	probably benign	0.02

Posted On

2016-08-02