Mutagenetix > Incidental Mutations

Incidental Mutation 'R5775:Ppp1r12b'

448702

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r12b

Ensembl Gene

ENSMUSG00000073557

Gene Name

protein phosphatase 1, regulatory (inhibitor) subunit 12B

Synonyms

9530009M10Rik, 1810037O03Rik

MMRRC Submission

043374-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.184) question?

Stock #

R5775 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134754658-134955942 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 134876042 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 460 (L460I)

Ref Sequence

ENSEMBL: ENSMUSP00000131406 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000045665
AA Change: L460I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000047463
Gene: ENSMUSG00000073557
AA Change: L460I

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: L460I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000083633
Gene: ENSMUSG00000073557
AA Change: L460I

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 benign
Transcript: ENSMUST00000168381
AA Change: L460I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000131406
Gene: ENSMUSG00000073557
AA Change: L460I

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (59/61)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	A	G	12: 113,546,266	D753G	possibly damaging	Het
AF067061	T	A	13: 120,263,939	C46*	probably null	Het
Arpc2	T	A	1: 74,255,949		probably null	Het
Atxn2	C	T	5: 121,813,449	T619M	probably damaging	Het
Cacna1s	T	C	1: 136,108,122	Y1120H	probably damaging	Het
Calm5	T	C	13: 3,854,435	L20S	probably damaging	Het
Carmil1	T	C	13: 24,276,537	I20V	probably benign	Het
Cd177	T	C	7: 24,752,268	E441G	probably damaging	Het
Cd63	T	A	10: 128,910,430	C9S	probably damaging	Het
Cep250	A	C	2: 155,969,374	D380A	possibly damaging	Het
Col5a3	G	T	9: 20,801,072	P509Q	unknown	Het
Cyp11b2	A	G	15: 74,853,478	V264A	probably benign	Het
Dennd6a	T	A	14: 26,619,373	L214*	probably null	Het
Dna2	A	G	10: 62,949,242	N46S	possibly damaging	Het
Elovl1	G	A	4: 118,430,897	V77I	probably benign	Het
Eml1	A	T	12: 108,506,554	Y207F	probably damaging	Het
Epha6	C	T	16: 59,818,994	R839Q	possibly damaging	Het
Erlec1	A	T	11: 30,943,848	S105T	probably benign	Het
Esp3	T	A	17: 40,633,577	S37T	possibly damaging	Het
Foxh1	G	A	15: 76,669,849	A8V	probably benign	Het
Fut1	A	C	7: 45,619,462	D280A	probably damaging	Het
Gm13998	G	T	2: 119,878,411		noncoding transcript	Het
Gm7247	C	T	14: 51,364,348	S26F	probably benign	Het
H2afz	T	C	3: 137,865,619	Y61H	probably damaging	Het
Kcns1	T	C	2: 164,164,766	I426V	probably damaging	Het
Kdm4c	T	G	4: 74,359,431	V774G	probably damaging	Het
Mrc2	G	A	11: 105,337,813	V673I	probably benign	Het
Mtnr1b	G	A	9: 15,862,872	A297V	possibly damaging	Het
Olfr1173	A	T	2: 88,274,701	M116K	probably damaging	Het
Olfr889	A	T	9: 38,116,127	E110D	probably damaging	Het
Osbpl5	A	T	7: 143,704,529	V346D	probably benign	Het
Pdzrn4	A	T	15: 92,757,681	E485V	probably damaging	Het
Pgpep1	G	A	8: 70,652,451	T53M	probably damaging	Het
Pigo	T	C	4: 43,023,475	D233G	probably damaging	Het
Pmm1	A	T	15: 81,951,955	I152N	probably benign	Het
Pot1a	A	T	6: 25,757,298		probably null	Het
Prrc2a	T	C	17: 35,158,487	D565G	unknown	Het
Psd	C	A	19: 46,314,772	E724*	probably null	Het
Rasa2	C	T	9: 96,577,468		probably null	Het
Rsbn1	A	T	3: 103,962,572	Q783L	possibly damaging	Het
Ryr2	T	C	13: 11,769,962	Y1035C	probably damaging	Het
Sec24d	C	T	3: 123,290,460	A96V	probably benign	Het
Sec61a2	A	T	2: 5,882,774		probably null	Het
Sec62	A	G	3: 30,793,287		probably benign	Het
Tmem132b	T	A	5: 125,638,330		probably null	Het
Tnip3	A	G	6: 65,614,757	S247G	probably benign	Het
Traf3	A	G	12: 111,252,728	K263R	possibly damaging	Het
Tubgcp3	A	T	8: 12,625,056	I713N	probably damaging	Het
Unc5c	A	G	3: 141,828,520	E860G	probably damaging	Het
Usp44	A	G	10: 93,845,978	S97G	possibly damaging	Het
Vmn2r-ps159	G	T	4: 156,334,397		noncoding transcript	Het
Vps37a	A	G	8: 40,529,119	H109R	probably damaging	Het
Wfikkn2	G	T	11: 94,238,288	D342E	probably benign	Het
Zfp354b	A	T	11: 50,922,820	F426Y	probably benign	Het
Zfp462	C	A	4: 55,010,590	T852N	probably damaging	Het
Zfp987	T	G	4: 146,124,935	S312R	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	134955733	missense	probably benign	0.21
R5056:Ppp1r12b	UTSW	1	134834392	intron	probably benign
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
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	possibly damaging	0.82
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
R8057:Ppp1r12b	UTSW	1	134955616	missense	probably damaging	1.00
R8070:Ppp1r12b	UTSW	1	134876069	missense	probably benign	0.06
X0022:Ppp1r12b	UTSW	1	134835873	missense	probably benign	0.00
X0027:Ppp1r12b	UTSW	1	134896354	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTACTTCAAAACTTGAGGACTAGC -3'
(R):5'- TGCTCCGTGAACTTGATCAAG -3'

Sequencing Primer
(F):5'- CTTGAGGACTAGCAAAAACATTTCC -3'
(R):5'- GGGTGGAGCAGACTGGC -3'

Posted On

2016-12-15