Mutagenetix > Incidental Mutation

Incidental Mutation 'R8134:Ppp1r12b'

632146

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r12b

Ensembl Gene

ENSMUSG00000073557

Gene Name

protein phosphatase 1, regulatory (inhibitor) subunit 12B

Synonyms

9530009M10Rik, 1810037O03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

R8134 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134754658-134955942 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134886542 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 341 (E341G)

Ref Sequence

ENSEMBL: ENSMUSP00000131406 (fasta)

Gene Model

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

AlphaFold

Q8BG95

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045665
AA Change: E341G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000047463
Gene: ENSMUSG00000073557
AA Change: E341G

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: E341G

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000083633
Gene: ENSMUSG00000073557
AA Change: E341G

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

possibly damaging
Transcript: ENSMUST00000168381
AA Change: E341G

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131406
Gene: ENSMUSG00000073557
AA Change: E341G

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: 99.8%
3x: 99.6%
10x: 98.5%
20x: 93.5%

Validation Efficiency

99% (71/72)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	G	A	8: 79,699,353	P265L	probably benign	Het
Adam20	A	G	8: 40,796,064	T404A	probably benign	Het
Anp32a	G	T	9: 62,377,581	R237L	unknown	Het
Ascc3	A	G	10: 50,767,458	D1835G	probably benign	Het
Atg9b	A	G	5: 24,385,222		probably null	Het
Bard1	A	T	1: 71,067,138	N443K	probably damaging	Het
Btnl1	A	G	17: 34,385,673	D476G	possibly damaging	Het
C2cd3	A	T	7: 100,418,504	I487F		Het
Cadm4	A	G	7: 24,503,605	E384G	possibly damaging	Het
Camsap3	A	G	8: 3,598,075	K128E	probably benign	Het
Casz1	C	T	4: 148,943,035	P1005S	probably damaging	Het
Cd38	C	A	5: 43,901,448	L135M	probably damaging	Het
Cdk20	A	G	13: 64,437,920	E244G	probably benign	Het
Cfap54	A	T	10: 92,878,516	V2667D	unknown	Het
Col11a1	A	G	3: 114,218,786	K1792E	unknown	Het
Cpne9	A	T	6: 113,295,042	D377V	probably benign	Het
Csmd1	A	T	8: 15,932,550	C2706S	probably damaging	Het
Ctnnbl1	T	C	2: 157,809,471	V222A	probably benign	Het
Frmpd2	T	C	14: 33,505,495	S277P	probably benign	Het
Gm15922	A	G	7: 3,735,839	S590P	probably damaging	Het
Herc2	C	T	7: 56,085,136	T158I	probably benign	Het
Hoxa4	G	T	6: 52,190,557	H215N	possibly damaging	Het
Hpd	G	T	5: 123,174,380	Q309K	probably benign	Het
Il20ra	A	G	10: 19,750,704	T159A	probably damaging	Het
Ints10	T	A	8: 68,802,986	Y209*	probably null	Het
Ints2	A	G	11: 86,212,660	I1190T	probably damaging	Het
Jhy	A	G	9: 40,960,892	V107A	probably null	Het
Kdm4d	C	T	9: 14,463,236	R442H	probably damaging	Het
Kif1bp	T	C	10: 62,577,977	Y134C	probably benign	Het
Klb	A	T	5: 65,383,615	H1017L	probably benign	Het
Kndc1	T	A	7: 139,901,369		probably null	Het
Krtap4-1	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	11: 99,627,834		probably benign	Het
Lrrn3	T	C	12: 41,453,048	I423M	probably damaging	Het
Magi2	T	G	5: 20,391,367	F274L	probably damaging	Het
Magi2	T	A	5: 20,391,394	D283E	probably benign	Het
Map3k19	A	C	1: 127,823,755	S620A	probably damaging	Het
Meis2	C	T	2: 115,866,888	M388I	probably benign	Het
Ms4a3	G	C	19: 11,638,249	H54Q	probably benign	Het
Nfe2l1	A	T	11: 96,819,759	M548K	possibly damaging	Het
Ninl	C	T	2: 150,950,314	C763Y	probably benign	Het
Numa1	T	C	7: 102,001,627	F1522L	probably benign	Het
Olfr1344	T	C	7: 6,438,923		probably benign	Het
Olfr539	T	A	7: 140,667,767	I153N	possibly damaging	Het
Pcdhgc3	G	A	18: 37,806,863	V106I	probably benign	Het
Phf3	A	G	1: 30,824,471	V152A	unknown	Het
Plcg2	A	T	8: 117,557,318	D118V	probably damaging	Het
Pnpla1	A	G	17: 28,878,469	D203G	probably damaging	Het
Ppip5k2	A	T	1: 97,745,163	M474K	probably benign	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rrs1	C	T	1: 9,545,420		probably benign	Het
Scaf11	T	C	15: 96,420,711	N324S	probably damaging	Het
Spaca1	T	A	4: 34,042,157		probably null	Het
Sun3	G	T	11: 9,029,346	D118E	probably benign	Het
Svop	C	T	5: 114,042,931	V215I	probably benign	Het
Tbc1d15	A	T	10: 115,209,569	C497S	probably damaging	Het
Tdrd6	A	T	17: 43,626,173	I1328N	probably damaging	Het
Tuba8	T	A	6: 121,221,422	D116E	probably benign	Het
Ube2z	A	G	11: 96,058,374	I213T	possibly damaging	Het
Ubqln4	G	A	3: 88,555,490		probably null	Het
Vps13a	A	G	19: 16,654,354	I2639T	possibly damaging	Het
Zfp217	G	A	2: 170,119,651	S252F	possibly damaging	Het
Zfp94	A	T	7: 24,303,741	V92E	probably benign	Het

Other mutations in Ppp1r12b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01358:Ppp1r12b	APN	1	134892159	missense	probably damaging	1.00
IGL01788:Ppp1r12b	APN	1	134893507	missense	possibly damaging	0.66
IGL01880:Ppp1r12b	APN	1	134886421	critical splice donor site	probably null
IGL02109:Ppp1r12b	APN	1	134872805	critical splice donor site	probably null
IGL02247:Ppp1r12b	APN	1	134835983	missense	probably benign
IGL02336:Ppp1r12b	APN	1	134886506	missense	probably damaging	1.00
IGL02903:Ppp1r12b	APN	1	134955649	missense	probably benign
IGL02963:Ppp1r12b	APN	1	134886548	missense	probably damaging	1.00
IGL03074:Ppp1r12b	APN	1	134836020	missense	probably benign	0.01
IGL03302:Ppp1r12b	APN	1	134838050	splice site	probably benign
R0102:Ppp1r12b	UTSW	1	134835899	critical splice acceptor site	probably null
R0102:Ppp1r12b	UTSW	1	134835899	critical splice acceptor site	probably null
R0189:Ppp1r12b	UTSW	1	134865776	critical splice donor site	probably null
R0556:Ppp1r12b	UTSW	1	134777322	missense	probably damaging	1.00
R0594:Ppp1r12b	UTSW	1	134776479	missense	probably damaging	1.00
R0690:Ppp1r12b	UTSW	1	134876082	missense	probably damaging	1.00
R1354:Ppp1r12b	UTSW	1	134835983	missense	probably benign	0.42
R1676:Ppp1r12b	UTSW	1	134777452	missense	probably damaging	1.00
R1775:Ppp1r12b	UTSW	1	134893348	critical splice donor site	probably null
R1839:Ppp1r12b	UTSW	1	134837981	missense	probably benign	0.32
R1946:Ppp1r12b	UTSW	1	134892270	missense	probably damaging	1.00
R1971:Ppp1r12b	UTSW	1	134865913	missense	probably benign	0.00
R1997:Ppp1r12b	UTSW	1	134846355	intron	probably benign
R3110:Ppp1r12b	UTSW	1	134872832	missense	probably damaging	1.00
R3112:Ppp1r12b	UTSW	1	134872832	missense	probably damaging	1.00
R3908:Ppp1r12b	UTSW	1	134842732	missense	probably damaging	1.00
R3912:Ppp1r12b	UTSW	1	134887318	missense	probably damaging	1.00
R3977:Ppp1r12b	UTSW	1	134765975	missense	probably benign	0.00
R4243:Ppp1r12b	UTSW	1	134782108	intron	probably benign
R4835:Ppp1r12b	UTSW	1	134955733	missense	probably benign	0.21
R4836:Ppp1r12b	UTSW	1	134955733	missense	probably benign	0.21
R4843:Ppp1r12b	UTSW	1	134955733	missense	probably benign	0.21
R4854:Ppp1r12b	UTSW	1	134873951	missense	probably damaging	1.00
R4870:Ppp1r12b	UTSW	1	134949033	missense	probably benign	0.00
R4881:Ppp1r12b	UTSW	1	134955733	missense	probably benign	0.21
R5024:Ppp1r12b	UTSW	1	134955733	missense	probably benign	0.21
R5054:Ppp1r12b	UTSW	1	134955733	missense	probably benign	0.21
R5055:Ppp1r12b	UTSW	1	134955733	missense	probably benign	0.21
R5056:Ppp1r12b	UTSW	1	134834392	intron	probably benign
R5056:Ppp1r12b	UTSW	1	134955733	missense	probably benign	0.21
R5158:Ppp1r12b	UTSW	1	134886428	missense	probably damaging	1.00
R5599:Ppp1r12b	UTSW	1	134865907	missense	probably benign	0.08
R5771:Ppp1r12b	UTSW	1	134773424	critical splice donor site	probably null
R5775:Ppp1r12b	UTSW	1	134876042	missense	probably benign
R5872:Ppp1r12b	UTSW	1	134776406	missense	probably benign	0.03
R5896:Ppp1r12b	UTSW	1	134765981	missense	probably damaging	1.00
R6060:Ppp1r12b	UTSW	1	134955524	missense	probably benign	0.02
R6129:Ppp1r12b	UTSW	1	134892252	nonsense	probably null
R6369:Ppp1r12b	UTSW	1	134886542	missense	possibly damaging	0.93
R6868:Ppp1r12b	UTSW	1	134886438	missense	probably benign	0.00
R7681:Ppp1r12b	UTSW	1	134865935	missense	probably benign	0.02
R7940:Ppp1r12b	UTSW	1	134876055	missense	probably benign	0.00
R8057:Ppp1r12b	UTSW	1	134955616	missense	probably damaging	1.00
R8070:Ppp1r12b	UTSW	1	134876069	missense	probably benign	0.06
R8147:Ppp1r12b	UTSW	1	134873942	missense	possibly damaging	0.78
R8224:Ppp1r12b	UTSW	1	134902462	missense	probably benign	0.19
R8270:Ppp1r12b	UTSW	1	134876148	missense	probably benign	0.37
R8304:Ppp1r12b	UTSW	1	134896363	missense	possibly damaging	0.65
R8803:Ppp1r12b	UTSW	1	134890754	critical splice donor site	probably benign
R8826:Ppp1r12b	UTSW	1	134765992	missense	probably benign	0.18
R8954:Ppp1r12b	UTSW	1	134834462	missense	probably benign	0.00
R9081:Ppp1r12b	UTSW	1	134777347	missense	probably benign	0.18
R9171:Ppp1r12b	UTSW	1	134873987	missense	probably benign	0.01
R9223:Ppp1r12b	UTSW	1	134879638	missense	probably benign	0.00
R9521:Ppp1r12b	UTSW	1	134777325	missense	probably damaging	1.00
R9609:Ppp1r12b	UTSW	1	134896346	nonsense	probably null
X0022:Ppp1r12b	UTSW	1	134835873	missense	probably benign	0.00
X0027:Ppp1r12b	UTSW	1	134896354	missense	probably damaging	1.00
Z1187:Ppp1r12b	UTSW	1	134955524	missense	probably benign	0.02
Z1189:Ppp1r12b	UTSW	1	134955524	missense	probably benign	0.02
Z1190:Ppp1r12b	UTSW	1	134955524	missense	probably benign	0.02
Z1192:Ppp1r12b	UTSW	1	134955524	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TTTCTGGAACCCTGAGAGGC -3'
(R):5'- CCTTGAGTCATGCTGTAAAGTC -3'

Sequencing Primer
(F):5'- CTGAGAGGCAGGCCACATG -3'
(R):5'- CCTTAGACTGTAGAAAAGCCAAGGTC -3'

Posted On

2020-06-30