Mutagenetix > Incidental Mutation

Incidental Mutation 'R6060:Ppp1r12b'

483160

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r12b

Ensembl Gene

ENSMUSG00000073557

Gene Name

protein phosphatase 1, regulatory subunit 12B

Synonyms

1810037O03Rik, 9530009M10Rik

MMRRC Submission

044426-MU

Accession Numbers

Essential gene?

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

Stock #

R6060 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134682396-134883680 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 134883262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 87 (V87L)

Ref Sequence

ENSEMBL: ENSMUSP00000107788 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045665] [ENSMUST00000086444] [ENSMUST00000112163] [ENSMUST00000168381]

AlphaFold

Q8BG95

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045665
AA Change: V87L

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000047463
Gene: ENSMUSG00000073557
AA Change: V87L

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

possibly damaging
Transcript: ENSMUST00000086444
AA Change: V87L

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000083633
Gene: ENSMUSG00000073557
AA Change: V87L

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

probably benign
Transcript: ENSMUST00000112163
AA Change: V87L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000107788
Gene: ENSMUSG00000073557
AA Change: V87L

Domain	Start	End	E-Value	Type
low complexity region	11	27	N/A	INTRINSIC
Pfam:Ank_5	45	97	1.3e-8	PFAM
Pfam:Ank_3	59	86	9.2e-6	PFAM
Pfam:Ank_4	60	97	6.2e-9	PFAM
Pfam:Ank	63	89	1.4e-4	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132025

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168381
AA Change: V87L

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000131406
Gene: ENSMUSG00000073557
AA Change: V87L

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

Meta Mutation Damage Score

0.0961

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110057P08Rik	A	G	16: 88,966,630 (GRCm39)		probably null	Het
Adh1	T	C	3: 137,992,544 (GRCm39)	I220T	probably damaging	Het
Ajap1	G	A	4: 153,516,699 (GRCm39)	T214I	probably damaging	Het
Ank2	A	G	3: 126,749,601 (GRCm39)	F476S	probably damaging	Het
Atp6v1g3	A	G	1: 138,201,582 (GRCm39)	K27E	possibly damaging	Het
BC034090	A	G	1: 155,117,245 (GRCm39)	I291T	probably benign	Het
Cnot9	T	A	1: 74,556,285 (GRCm39)	N27K	probably benign	Het
Cyp2c70	A	T	19: 40,153,857 (GRCm39)	L244*	probably null	Het
Cyp2d22	T	C	15: 82,260,086 (GRCm39)	T6A	probably benign	Het
D630045J12Rik	T	C	6: 38,107,799 (GRCm39)	E1829G	probably damaging	Het
Dnajc4	G	T	19: 6,968,093 (GRCm39)	S61*	probably null	Het
Dpysl4	A	G	7: 138,669,324 (GRCm39)	M1V	probably null	Het
Fam149a	T	A	8: 45,811,799 (GRCm39)		probably benign	Het
Fam184b	T	C	5: 45,710,489 (GRCm39)	E547G	probably damaging	Het
Fam47e	T	A	5: 92,727,472 (GRCm39)	F127I	possibly damaging	Het
Ifi207	G	A	1: 173,558,093 (GRCm39)	T215I	unknown	Het
Iftap	T	C	2: 101,440,950 (GRCm39)	K18E	probably benign	Het
Lpxn	T	C	19: 12,810,489 (GRCm39)	L311P	probably damaging	Het
Lrp1b	A	T	2: 40,640,946 (GRCm39)	N3499K		Het
Mknk2	A	T	10: 80,507,468 (GRCm39)	D76E	probably benign	Het
Nectin2	A	T	7: 19,451,700 (GRCm39)	Y445N	probably damaging	Het
Ngb	A	C	12: 87,146,963 (GRCm39)	S85A	probably benign	Het
Nrp1	C	A	8: 129,224,419 (GRCm39)	H727Q	probably damaging	Het
Or5b112	C	T	19: 13,319,497 (GRCm39)	A125V	probably benign	Het
Or6k2	C	A	1: 173,986,907 (GRCm39)	C189*	probably null	Het
Pold3	A	C	7: 99,749,819 (GRCm39)	Y115*	probably null	Het
Ppp1r26	A	G	2: 28,341,042 (GRCm39)	N224S	probably benign	Het
Prl7a1	G	A	13: 27,821,571 (GRCm39)	P122S	probably damaging	Het
Rc3h2	T	C	2: 37,289,612 (GRCm39)	H400R	possibly damaging	Het
Rnf32	A	T	5: 29,411,752 (GRCm39)	I214L	probably benign	Het
Safb2	A	T	17: 56,870,246 (GRCm39)		probably null	Het
Serpinb6e	A	G	13: 34,025,256 (GRCm39)	C12R	possibly damaging	Het
Sh2b2	A	T	5: 136,261,209 (GRCm39)	N2K	possibly damaging	Het
Slc12a4	G	A	8: 106,672,338 (GRCm39)	A821V	probably damaging	Het
Slc41a1	A	G	1: 131,767,972 (GRCm39)	M179V	probably benign	Het
Slc9a3	A	G	13: 74,299,004 (GRCm39)	Y141C	probably damaging	Het
Tenm4	G	A	7: 96,522,918 (GRCm39)	V1450I	probably damaging	Het
Trmt1l	A	G	1: 151,333,331 (GRCm39)	N642S	possibly damaging	Het
Ttll13	G	A	7: 79,908,491 (GRCm39)	R576H	probably damaging	Het
Zar1	T	A	5: 72,738,272 (GRCm39)	R43S	probably benign	Het
Zfp455	A	G	13: 67,355,257 (GRCm39)	Y175C	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
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
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'- AATGTGAGTTGACTGAAGTGGC -3'
(R):5'- GTGGTACTTTTGGCAGCAGC -3'

Sequencing Primer
(F):5'- CATGGTCTTTGCAAGAGGGC -3'
(R):5'- CGGAAGCTCGAGCAATGGC -3'

Posted On

2017-07-14