Mutagenetix > Incidental Mutation

Incidental Mutation 'R1946:Ppp1r12b'

216642

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r12b

Ensembl Gene

ENSMUSG00000073557

Gene Name

protein phosphatase 1, regulatory (inhibitor) subunit 12B

Synonyms

9530009M10Rik, 1810037O03Rik

MMRRC Submission

039964-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.239) question?

Stock #

R1946 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

134754658-134955942 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134892270 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 245 (V245A)

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: V245A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047463
Gene: ENSMUSG00000073557
AA Change: V245A

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: V245A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000083633
Gene: ENSMUSG00000073557
AA Change: V245A

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: V245A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131406
Gene: ENSMUSG00000073557
AA Change: V245A

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: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 76,891,704	S253P	probably damaging	Het
Adamts5	C	A	16: 85,899,243	C342F	probably damaging	Het
Adgrv1	C	T	13: 81,374,249	C5923Y	probably damaging	Het
Aen	G	C	7: 78,902,672	E32Q	probably damaging	Het
Apba2	T	C	7: 64,744,630		probably null	Het
Arhgap44	A	G	11: 65,012,096	M509T	probably damaging	Het
Arpc1b	A	G	5: 145,122,633	T56A	probably null	Het
Atoh1	T	C	6: 64,729,459	V46A	probably benign	Het
Bmpr2	T	C	1: 59,868,397	V883A	possibly damaging	Het
Bpifa1	A	T	2: 154,145,634	I135F	probably damaging	Het
Bsn	A	G	9: 108,114,651	F1301L	probably damaging	Het
Capn13	T	C	17: 73,350,525	E240G	possibly damaging	Het
Ccdc18	A	G	5: 108,228,995	E1434G	probably damaging	Het
Coq8b	G	A	7: 27,239,874	V150I	possibly damaging	Het
Cpn1	G	A	19: 43,956,518	T450M	probably benign	Het
Dlg4	A	G	11: 70,039,575	Y432C	probably damaging	Het
Dnah8	C	A	17: 30,712,385	T1458K	probably benign	Het
Dock5	A	T	14: 67,786,316	M1132K	probably damaging	Het
Dsg2	A	G	18: 20,580,548	D192G	probably damaging	Het
F930017D23Rik	G	A	10: 43,593,444		noncoding transcript	Het
Fndc11	A	T	2: 181,221,834	D144V	probably benign	Het
Fut2	A	G	7: 45,651,324	F8S	probably damaging	Het
Gad2	A	T	2: 22,685,428	T515S	probably benign	Het
Ganab	T	A	19: 8,910,808	D439E	probably damaging	Het
Gm10228	C	A	16: 89,041,353	G21V	unknown	Het
Gm13119	T	A	4: 144,361,865	V77E	probably benign	Het
Gm9573	A	T	17: 35,622,524		probably benign	Het
Grm3	A	G	5: 9,512,123	W576R	probably damaging	Het
Gsdmc4	C	A	15: 63,902,780	D51Y	probably benign	Het
Hmcn2	T	C	2: 31,405,635	S2619P	probably damaging	Het
Kcnq2	T	A	2: 181,088,451	D446V	probably benign	Het
Kera	A	G	10: 97,609,147	K123E	probably benign	Het
Kmt2c	A	T	5: 25,315,154	V1986E	probably benign	Het
Lrp11	T	C	10: 7,623,776	Y244H	probably damaging	Het
Lrp1b	T	A	2: 40,665,147	D320V	unknown	Het
Lrrcc1	A	G	3: 14,550,393	R394G	probably benign	Het
Lrrk2	G	A	15: 91,736,661		probably null	Het
Map4k5	A	T	12: 69,845,755	D133E	probably damaging	Het
Megf11	A	T	9: 64,679,276	D461V	probably damaging	Het
Msrb3	A	G	10: 120,852,008	V54A	probably damaging	Het
Ncoa3	T	A	2: 166,059,177	N896K	possibly damaging	Het
Ncor2	G	A	5: 125,034,412	T1314I	probably damaging	Het
Nes	A	G	3: 87,978,514	Q1316R	possibly damaging	Het
Nfe2l3	A	C	6: 51,457,315	Q285P	probably damaging	Het
Nkd1	C	T	8: 88,592,117	H357Y	probably damaging	Het
Nmt2	T	A	2: 3,322,635	I355N	probably benign	Het
Olfr1333	T	C	4: 118,830,026	N139S	probably benign	Het
Olfr1354	T	A	10: 78,916,924	I28N	probably damaging	Het
Olfr1469	T	C	19: 13,410,779	V70A	possibly damaging	Het
Olfr147	T	A	9: 38,402,886	M1K	probably null	Het
Olfr290	T	C	7: 84,916,279	S167P	probably benign	Het
Olfr353	A	T	2: 36,890,446	M134K	possibly damaging	Het
Otx1	G	T	11: 21,998,482	T46K	probably damaging	Het
Panx1	A	G	9: 15,007,526	C346R	probably benign	Het
Pcdhb16	T	A	18: 37,478,899	L304*	probably null	Het
Plet1	A	G	9: 50,504,352		probably null	Het
Plod2	A	G	9: 92,607,135	S707G	probably damaging	Het
Plscr4	G	A	9: 92,483,836	V120I	probably damaging	Het
Ppp2r2d	A	G	7: 138,868,467	D19G	probably damaging	Het
Rimbp3	G	A	16: 17,210,427	V572I	probably benign	Het
Ror2	T	C	13: 53,131,849	I110V	probably damaging	Het
Sec24d	A	T	3: 123,353,394	H667L	probably benign	Het
Sema3d	A	G	5: 12,573,843	Q573R	probably damaging	Het
Snx19	T	A	9: 30,432,324	N593K	probably damaging	Het
Sulf1	T	C	1: 12,796,907	V105A	probably benign	Het
Syngr3	T	C	17: 24,687,706	N45S	probably benign	Het
Tenm4	A	T	7: 96,735,808	H524L	probably damaging	Het
Tex30	C	T	1: 44,091,404	G68D	probably damaging	Het
Tmem43	A	T	6: 91,486,909	I389F	probably benign	Het
Trpm1	A	T	7: 64,223,808	N488Y	probably damaging	Het
Usf2	T	C	7: 30,956,238	T1A	probably null	Het
Vill	A	T	9: 119,058,492	H108L	probably benign	Het
Vmn1r16	T	C	6: 57,322,900	I246V	probably benign	Het
Vmn1r188	T	G	13: 22,088,645	S256R	possibly damaging	Het
Zfp12	G	A	5: 143,245,378	E487K	probably damaging	Het
Zfp24	AC	A	18: 24,014,419		probably null	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
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
R8134:Ppp1r12b	UTSW	1	134886542	missense	possibly damaging	0.93
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'- GACACTGACCAGAGCCTTCAAG -3'
(R):5'- TACAGTTCAGTGAAGATTGTAAGCG -3'

Sequencing Primer
(F):5'- ACCAGAGCCTTCAAGCCTGTG -3'
(R):5'- TCAGTGAAGATTGTAAGCGATGCTC -3'

Posted On

2014-08-01