Mutagenetix > Incidental Mutation

Incidental Mutation 'R1354:Ppp1r12b'

156233

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r12b

Ensembl Gene

ENSMUSG00000073557

Gene Name

protein phosphatase 1, regulatory subunit 12B

Synonyms

1810037O03Rik, 9530009M10Rik

MMRRC Submission

039419-MU

Accession Numbers

Essential gene?

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

Stock #

R1354 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

134682396-134883680 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 134763721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 771 (T771M)

Ref Sequence

ENSEMBL: ENSMUSP00000047463 (fasta)

Gene Model

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

AlphaFold

Q8BG95

Predicted Effect

probably benign
Transcript: ENSMUST00000045665
AA Change: T771M

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000047463
Gene: ENSMUSG00000073557
AA Change: T771M

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: T771M

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000083633
Gene: ENSMUSG00000073557
AA Change: T771M

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
AA Change: T771M

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000131406
Gene: ENSMUSG00000073557
AA Change: T771M

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

1x: 99.0%
3x: 98.1%
10x: 95.9%
20x: 92.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atoh1	A	G	6: 64,706,341 (GRCm39)	E12G	possibly damaging	Het
Ccdc183	T	C	2: 25,502,151 (GRCm39)	N241S	probably benign	Het
Cmya5	G	A	13: 93,228,566 (GRCm39)	T2174I	possibly damaging	Het
Edem1	A	G	6: 108,831,277 (GRCm39)	I579M	possibly damaging	Het
Gimap9	A	T	6: 48,654,982 (GRCm39)	M190L	probably benign	Het
Glod4	A	T	11: 76,128,654 (GRCm39)		probably null	Het
Ighv8-6	A	T	12: 115,129,700 (GRCm39)	S19T	probably damaging	Het
Lef1	C	T	3: 130,988,317 (GRCm39)	P267S	probably damaging	Het
Megf11	A	G	9: 64,560,459 (GRCm39)	E335G	probably benign	Het
Muc5ac	A	G	7: 141,361,114 (GRCm39)	N1475S	probably damaging	Het
Ndst2	C	A	14: 20,775,043 (GRCm39)	R749L	possibly damaging	Het
Oas3	C	A	5: 120,908,065 (GRCm39)	V292L	possibly damaging	Het
Phactr1	A	T	13: 43,210,807 (GRCm39)	I210F	possibly damaging	Het
Plppr5	G	A	3: 117,369,496 (GRCm39)	R51H	possibly damaging	Het
Rasgrf2	G	A	13: 92,165,174 (GRCm39)	P331S	probably damaging	Het
Rtl6	C	T	15: 84,440,728 (GRCm39)	V223M	probably damaging	Het
Tbc1d9	A	C	8: 83,995,610 (GRCm39)		probably null	Het
Tgm3	T	C	2: 129,883,818 (GRCm39)	I492T	probably benign	Het
Trdv1	T	A	14: 54,119,375 (GRCm39)		probably benign	Het
Wdr45b	A	T	11: 121,226,256 (GRCm39)	I191N	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
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

Predicted Primers

PCR Primer
(F):5'- TCATGGGATCACATGGTGCTCTTTC -3'
(R):5'- AGCTGCTGGTTTCTGACCACTTAC -3'

Sequencing Primer
(F):5'- CATTTGTCCAGAAGTTAATGCCG -3'
(R):5'- AGCCTATCTATCATCGCCTAAGG -3'

Posted On

2014-02-11