Mutagenetix > Incidental Mutation

Incidental Mutation 'R5599:Ppp1r12b'

438932

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r12b

Ensembl Gene

ENSMUSG00000073557

Gene Name

protein phosphatase 1, regulatory subunit 12B

Synonyms

1810037O03Rik, 9530009M10Rik

MMRRC Submission

043151-MU

Accession Numbers

Essential gene?

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

Stock #

R5599 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

134682396-134883680 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134793645 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 573 (V573A)

Ref Sequence

ENSEMBL: ENSMUSP00000131406 (fasta)

Gene Model

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

AlphaFold

Q8BG95

Predicted Effect

probably benign
Transcript: ENSMUST00000045665
AA Change: V573A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000047463
Gene: ENSMUSG00000073557
AA Change: V573A

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
AA Change: V573A

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000083633
Gene: ENSMUSG00000073557
AA Change: V573A

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 benign
Transcript: ENSMUST00000168381
AA Change: V573A

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000131406
Gene: ENSMUSG00000073557
AA Change: V573A

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

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd2	T	A	7: 78,946,746 (GRCm39)		probably null	Het
Agpat3	T	C	10: 78,110,103 (GRCm39)	D282G	probably benign	Het
Ankhd1	G	A	18: 36,693,860 (GRCm39)	A24T	probably damaging	Het
Cracdl	T	C	1: 37,652,424 (GRCm39)	N1128D	possibly damaging	Het
Cry1	A	T	10: 84,980,114 (GRCm39)	M398K	probably benign	Het
Dpp10	A	G	1: 123,832,803 (GRCm39)	I47T	probably damaging	Het
Fpr-rs6	C	T	17: 20,402,375 (GRCm39)	D329N	probably benign	Het
Gfm2	G	A	13: 97,299,659 (GRCm39)	A406T	probably damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Gxylt1	CTCATCCGGGTCAT	CTCAT	15: 93,152,198 (GRCm39)		probably benign	Het
Hnrnpul1	G	A	7: 25,454,097 (GRCm39)		probably benign	Het
Lbx1	T	A	19: 45,223,519 (GRCm39)	S50C	probably damaging	Het
Lims2	A	G	18: 32,090,324 (GRCm39)	N183S	probably benign	Het
Lrp1	T	C	10: 127,429,738 (GRCm39)	N444S	probably damaging	Het
Mast4	A	T	13: 102,873,987 (GRCm39)	C1626S	probably damaging	Het
Mgat5	A	G	1: 127,325,303 (GRCm39)	Y390C	probably damaging	Het
Nf2	T	C	11: 4,732,269 (GRCm39)	E553G	probably damaging	Het
Nfatc4	A	T	14: 56,069,733 (GRCm39)	T704S	probably benign	Het
Or4c3d	A	G	2: 89,882,563 (GRCm39)	V35A	probably benign	Het
Or56a3	T	C	7: 104,735,757 (GRCm39)		probably null	Het
Or7g29	T	G	9: 19,286,925 (GRCm39)	N84T	possibly damaging	Het
Or9m1b	T	G	2: 87,836,349 (GRCm39)	I258L	probably benign	Het
Plekha7	T	A	7: 115,776,117 (GRCm39)		probably null	Het
Polr1a	T	C	6: 71,944,346 (GRCm39)	M1271T	possibly damaging	Het
Ppip5k2	A	G	1: 97,668,323 (GRCm39)	M595T	probably damaging	Het
Ppox	A	T	1: 171,105,033 (GRCm39)	V412D	probably damaging	Het
Prkcb	T	C	7: 122,181,701 (GRCm39)	Y430H	probably benign	Het
Psmd6	A	C	14: 14,120,144 (GRCm38)	M65R	probably benign	Het
Rbm12	G	A	2: 155,938,713 (GRCm39)	R520*	probably null	Het
Rin3	T	C	12: 102,356,188 (GRCm39)	F830L	probably damaging	Het
Sema4b	A	G	7: 79,863,039 (GRCm39)	K104R	probably benign	Het
Slitrk1	T	C	14: 109,149,244 (GRCm39)	D489G	probably benign	Het
Spef2	T	C	15: 9,729,789 (GRCm39)	T110A	possibly damaging	Het
Sult2a6	T	A	7: 13,988,629 (GRCm39)	K44*	probably null	Het
Tasor	A	G	14: 27,201,886 (GRCm39)	N1427D	probably benign	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tcstv2c	A	C	13: 120,616,458 (GRCm39)	Q99P	probably damaging	Het
Tnxb	G	T	17: 34,909,176 (GRCm39)	G1445V	probably damaging	Het
Tnxb	T	C	17: 34,909,179 (GRCm39)	V1569A	probably benign	Het
Zcchc2	A	G	1: 105,959,880 (GRCm39)	D1163G	probably damaging	Het
Zfp365	C	T	10: 67,745,197 (GRCm39)	E194K	probably 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
IGL03302:Ppp1r12b	APN	1	134,765,788 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- AGCTTGAGTCAGACACTTCCC -3'
(R):5'- CTGATGCAATATTTACGAGCTCAG -3'

Sequencing Primer
(F):5'- GTCTGTCTCTCTTCTCACAGCAGAG -3'
(R):5'- TTTACGAGCTCAGAATTAACAAACC -3'

Posted On

2016-10-26