Mutagenetix > Incidental Mutation

Incidental Mutation 'R4835:Ppp1r12b'

373122

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r12b

Ensembl Gene

ENSMUSG00000073557

Gene Name

protein phosphatase 1, regulatory subunit 12B

Synonyms

1810037O03Rik, 9530009M10Rik

MMRRC Submission

042450-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.202) question?

Stock #

R4835 (G1)

Quality Score

107

Status

Validated

Chromosome

Chromosomal Location

134682396-134883680 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 134883471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 17 (A17E)

Ref Sequence

ENSEMBL: ENSMUSP00000131406 (fasta)

Gene Model

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

AlphaFold

Q8BG95

Predicted Effect

probably benign
Transcript: ENSMUST00000045665
AA Change: A17E

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000047463
Gene: ENSMUSG00000073557
AA Change: A17E

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: A17E

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000083633
Gene: ENSMUSG00000073557
AA Change: A17E

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: A17E

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000107788
Gene: ENSMUSG00000073557
AA Change: A17E

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

probably benign
Transcript: ENSMUST00000168381
AA Change: A17E

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000131406
Gene: ENSMUSG00000073557
AA Change: A17E

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

98% (96/98)

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	T	7: 29,274,326 (GRCm39)		noncoding transcript	Het
4933434E20Rik	A	G	3: 89,970,516 (GRCm39)	N17D	probably benign	Het
A1bg	T	C	15: 60,792,100 (GRCm39)	D176G	probably benign	Het
Abcg5	A	T	17: 84,966,076 (GRCm39)	M428K	possibly damaging	Het
Adam1a	A	T	5: 121,657,752 (GRCm39)	C514S	probably damaging	Het
Angptl3	A	G	4: 98,925,649 (GRCm39)	Q325R	probably benign	Het
Ankrd26	C	T	6: 118,525,811 (GRCm39)	W378*	probably null	Het
Apob	T	C	12: 8,065,391 (GRCm39)	V4087A	possibly damaging	Het
Auts2	A	G	5: 131,494,931 (GRCm39)	I117T	probably damaging	Het
AW146154	T	A	7: 41,129,892 (GRCm39)	E408V	probably damaging	Het
Bicd1	A	T	6: 149,385,588 (GRCm39)	N107I	probably benign	Het
Blm	T	C	7: 80,159,294 (GRCm39)	S281G	probably benign	Het
Btaf1	T	A	19: 36,979,858 (GRCm39)	D1542E	probably benign	Het
C2cd2l	A	G	9: 44,226,442 (GRCm39)		probably null	Het
Capn8	C	A	1: 182,432,116 (GRCm39)	N362K	probably damaging	Het
Ccdc14	T	G	16: 34,525,408 (GRCm39)	S186A	probably damaging	Het
Cdca4	A	G	12: 112,785,167 (GRCm39)	L187P	probably damaging	Het
Chil6	T	A	3: 106,313,290 (GRCm39)	K20*	probably null	Het
Cmss1	A	T	16: 57,136,545 (GRCm39)	L109*	probably null	Het
Cmtm6	G	T	9: 114,560,410 (GRCm39)	W36L	probably benign	Het
Cnksr3	T	G	10: 7,110,757 (GRCm39)	I35L	possibly damaging	Het
Col4a2	G	T	8: 11,473,570 (GRCm39)	G534*	probably null	Het
Col5a1	T	G	2: 27,915,656 (GRCm39)	V180G	probably damaging	Het
Ctnna3	T	C	10: 63,417,723 (GRCm39)	F154L	probably benign	Het
Fabp7	G	A	10: 57,661,676 (GRCm39)	V50M	possibly damaging	Het
Fam170a	T	A	18: 50,415,050 (GRCm39)	V232D	probably damaging	Het
Fam186a	T	G	15: 99,843,689 (GRCm39)	T852P	unknown	Het
Fam20a	T	C	11: 109,564,389 (GRCm39)	I455V	probably benign	Het
Fbxl6	C	T	15: 76,421,004 (GRCm39)	V324M	probably damaging	Het
Galnt18	T	C	7: 111,378,730 (GRCm39)	T9A	probably damaging	Het
Golgb1	T	A	16: 36,711,769 (GRCm39)	M191K	possibly damaging	Het
Gpld1	A	G	13: 25,166,699 (GRCm39)	T650A	probably benign	Het
Gprc5d	A	G	6: 135,093,515 (GRCm39)	F131L	probably benign	Het
H2az2	C	T	11: 6,389,437 (GRCm39)	G7E	unknown	Het
Haus4	A	T	14: 54,783,292 (GRCm39)		probably null	Het
Helq	A	G	5: 100,922,029 (GRCm39)	I725T	possibly damaging	Het
Igsf23	T	A	7: 19,675,755 (GRCm39)	D117V	possibly damaging	Het
Kiz	A	T	2: 146,784,008 (GRCm39)	S514C	probably damaging	Het
Klhl6	A	T	16: 19,775,783 (GRCm39)	N258K	probably benign	Het
Krt72	G	C	15: 101,689,508 (GRCm39)		probably null	Het
Large1	A	T	8: 73,774,975 (GRCm39)	I245N	probably damaging	Het
Lrrc31	T	C	3: 30,733,306 (GRCm39)	I469M	probably damaging	Het
Lypd4	T	A	7: 24,566,121 (GRCm39)	I68F	probably benign	Het
Mast1	A	G	8: 85,650,408 (GRCm39)	S442P	probably damaging	Het
Mmp20	T	A	9: 7,645,300 (GRCm39)	H283Q	probably benign	Het
Mrps5	G	A	2: 127,445,627 (GRCm39)	V385M	possibly damaging	Het
Ms4a15	T	C	19: 10,956,590 (GRCm39)	K241E	possibly damaging	Het
Myt1	A	G	2: 181,439,255 (GRCm39)	E259G	probably damaging	Het
Myt1l	C	A	12: 29,945,304 (GRCm39)	T1023K	unknown	Het
Ncapd3	T	C	9: 26,997,342 (GRCm39)	L1221P	probably damaging	Het
Ncoa6	A	G	2: 155,249,053 (GRCm39)	V1417A	possibly damaging	Het
Nmnat1	A	G	4: 149,557,802 (GRCm39)	V80A	possibly damaging	Het
Nwd2	A	G	5: 63,965,189 (GRCm39)	E1591G	probably benign	Het
Or10ac1	A	G	6: 42,515,770 (GRCm39)	F62S	probably damaging	Het
Or8j3b	A	G	2: 86,204,853 (GRCm39)	L301S	possibly damaging	Het
Osbpl1a	A	T	18: 12,901,593 (GRCm39)		probably null	Het
Papln	T	C	12: 83,821,194 (GRCm39)	I204T	probably damaging	Het
Phf1	A	G	17: 27,153,652 (GRCm39)	T97A	probably benign	Het
Plxnb1	A	G	9: 108,934,442 (GRCm39)	D890G	probably damaging	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Rbp2	G	A	9: 98,389,876 (GRCm39)	C96Y	probably damaging	Het
Rgmb	A	T	17: 16,027,624 (GRCm39)	M365K	possibly damaging	Het
Ric1	A	G	19: 29,572,936 (GRCm39)	N792S	possibly damaging	Het
Ruvbl1	T	C	6: 88,474,211 (GRCm39)	Y405H	possibly damaging	Het
Scaf4	A	G	16: 90,047,195 (GRCm39)	M394T	unknown	Het
Siglech	T	A	7: 55,418,177 (GRCm39)	C48*	probably null	Het
Skic2	A	G	17: 35,061,897 (GRCm39)	V695A	possibly damaging	Het
Slc2a5	A	G	4: 150,224,462 (GRCm39)	T320A	probably benign	Het
Slc6a7	T	C	18: 61,135,277 (GRCm39)	Y417C	probably benign	Het
Sox21	A	G	14: 118,472,336 (GRCm39)	C238R	possibly damaging	Het
Tbata	A	T	10: 61,019,132 (GRCm39)	K109N	probably damaging	Het
Tecpr2	T	G	12: 110,921,164 (GRCm39)	S1246A	probably benign	Het
Tekt3	A	G	11: 62,972,085 (GRCm39)	D247G	probably benign	Het
Tenm3	A	T	8: 48,766,271 (GRCm39)		probably null	Het
Thada	A	T	17: 84,748,532 (GRCm39)		probably null	Het
Tpcn2	C	T	7: 144,826,088 (GRCm39)	G204R	probably damaging	Het
Tpm2	T	C	4: 43,519,220 (GRCm39)		probably null	Het
Trbv24	T	C	6: 41,195,026 (GRCm39)		probably benign	Het
Tyw1	A	G	5: 130,305,899 (GRCm39)	R341G	probably benign	Het
Vmn1r183	T	G	7: 23,754,564 (GRCm39)	N122K	probably benign	Het
Vmn2r61	T	A	7: 41,916,459 (GRCm39)	H357Q	possibly damaging	Het
Vps13b	C	T	15: 35,869,518 (GRCm39)	T2674I	probably damaging	Het
Vps13b	T	C	15: 35,910,439 (GRCm39)	L3401P	probably benign	Het
Vps16	T	G	2: 130,280,220 (GRCm39)		probably benign	Het
Vrtn	T	A	12: 84,696,468 (GRCm39)	I406N	probably damaging	Het
Vwa8	A	T	14: 79,172,053 (GRCm39)	Y278F	probably benign	Het
Washc4	A	T	10: 83,415,376 (GRCm39)	I789F	possibly damaging	Het
Zbtb20	C	A	16: 43,438,761 (GRCm39)	T627K	probably damaging	Het
Zfyve16	A	T	13: 92,658,693 (GRCm39)	I406K	probably benign	Het
Zfyve9	A	C	4: 108,575,195 (GRCm39)	S629A	possibly damaging	Het
Zpld1	A	T	16: 55,068,618 (GRCm39)	N164K	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
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'- GTTGATGTCCGCACCTCTTG -3'
(R):5'- AGGTCTCCTACTACAAGTCCC -3'

Sequencing Primer
(F):5'- GCACCTCTTGCCAGAAGC -3'
(R):5'- CGTGCGTGCTGAAGCTAAG -3'

Posted On

2016-03-01