Mutagenetix > Incidental Mutation

Incidental Mutation 'R5158:Ppp1r12b'

396810

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r12b

Ensembl Gene

ENSMUSG00000073557

Gene Name

protein phosphatase 1, regulatory subunit 12B

Synonyms

1810037O03Rik, 9530009M10Rik

MMRRC Submission

042740-MU

Accession Numbers

Essential gene?

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

Stock #

R5158 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

134682396-134883680 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134814166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 379 (E379G)

Ref Sequence

ENSEMBL: ENSMUSP00000047463 (fasta)

Gene Model

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

AlphaFold

Q8BG95

Predicted Effect

probably damaging
Transcript: ENSMUST00000045665
AA Change: E379G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047463
Gene: ENSMUSG00000073557
AA Change: E379G

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 damaging
Transcript: ENSMUST00000086444
AA Change: E379G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000083633
Gene: ENSMUSG00000073557
AA Change: E379G

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 damaging
Transcript: ENSMUST00000168381
AA Change: E379G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131406
Gene: ENSMUSG00000073557
AA Change: E379G

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: 99.3%
3x: 98.7%
10x: 97.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	C	T	17: 45,825,755 (GRCm39)	T357I	probably benign	Het
Abca14	A	T	7: 119,852,652 (GRCm39)	R872S	probably benign	Het
Adnp2	A	G	18: 80,180,758 (GRCm39)	Y47H	probably damaging	Het
Atp6v0d2	T	C	4: 19,878,292 (GRCm39)	N327S	probably damaging	Het
Ccdc190	A	G	1: 169,760,578 (GRCm39)	R69G	probably benign	Het
Cfap54	T	C	10: 92,901,059 (GRCm39)	D213G	probably damaging	Het
Clcn4	G	A	7: 7,294,618 (GRCm39)	T381I	possibly damaging	Het
Cobl	A	G	11: 12,206,198 (GRCm39)	F477S	possibly damaging	Het
Ctdspl2	T	A	2: 121,811,774 (GRCm39)	V205E	probably benign	Het
Dhx37	A	T	5: 125,492,216 (GRCm39)	Y1128N	probably damaging	Het
Ehmt2	G	A	17: 35,130,640 (GRCm39)	E1085K	probably damaging	Het
Fam149a	T	G	8: 45,803,472 (GRCm39)	I340L	possibly damaging	Het
Fut9	T	A	4: 25,620,731 (GRCm39)	I28F	probably benign	Het
Il36g	T	A	2: 24,082,798 (GRCm39)	I191K	probably damaging	Het
Iqgap1	T	C	7: 80,392,816 (GRCm39)	N716D	probably benign	Het
Itgb7	T	C	15: 102,125,464 (GRCm39)	D672G	probably benign	Het
Kat6b	A	G	14: 21,720,054 (GRCm39)	M1469V	possibly damaging	Het
Kif3a	T	C	11: 53,479,578 (GRCm39)	F430L	probably benign	Het
L3mbtl3	T	C	10: 26,179,586 (GRCm39)	D523G	unknown	Het
Mcf2l	A	G	8: 13,059,715 (GRCm39)	Q736R	probably damaging	Het
Mpl	T	G	4: 118,313,881 (GRCm39)	D128A	probably damaging	Het
Myom3	T	A	4: 135,492,897 (GRCm39)	C149S	probably damaging	Het
N4bp2	A	G	5: 65,965,805 (GRCm39)	I1285V	probably damaging	Het
Nalcn	T	C	14: 123,753,149 (GRCm39)	Q279R	probably damaging	Het
Ndc1	T	G	4: 107,232,362 (GRCm39)	S182R	probably damaging	Het
Ngf	A	T	3: 102,427,445 (GRCm39)	M65L	possibly damaging	Het
Or2n1	T	A	17: 38,486,345 (GRCm39)	Y123*	probably null	Het
Pigb	T	C	9: 72,929,683 (GRCm39)	Y300C	probably damaging	Het
Pla2g2a	T	G	4: 138,560,595 (GRCm39)	*69G	probably null	Het
Ptdss2	T	C	7: 140,731,684 (GRCm39)	F164S	probably benign	Het
Ptprc	T	C	1: 138,102,822 (GRCm39)	T2A	possibly damaging	Het
Ptprq	T	A	10: 107,370,565 (GRCm39)	N2042I	probably damaging	Het
Rdh10	A	T	1: 16,178,221 (GRCm39)	R164S	probably damaging	Het
Sec31a	A	T	5: 100,541,180 (GRCm39)	I309N	probably damaging	Het
Skint5	A	T	4: 113,599,409 (GRCm39)	I710N	unknown	Het
Slc25a30	A	T	14: 76,008,956 (GRCm39)	L26Q	probably damaging	Het
Sptan1	G	A	2: 29,868,455 (GRCm39)	V34I	probably damaging	Het
Sult1e1	A	T	5: 87,735,453 (GRCm39)	I75N	probably damaging	Het
Trpa1	A	G	1: 14,951,885 (GRCm39)	V938A	probably benign	Het
Vps16	C	T	2: 130,283,199 (GRCm39)	R531C	probably damaging	Het
Zbtb22	C	T	17: 34,137,423 (GRCm39)	H523Y	probably damaging	Het
Zfp39	G	A	11: 58,780,671 (GRCm39)	T697M	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
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
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'- CCTTACCATATGGCTGTGTCAG -3'
(R):5'- ACTGTAGAAAAGCCAAGGTCC -3'

Sequencing Primer
(F):5'- ACCATATGGCTGTGTCAGAACTG -3'
(R):5'- GCACACAGAGATAAGAAGGATCTTCC -3'

Posted On

2016-06-21