Mutagenetix > Incidental Mutation

Incidental Mutation 'R4911:Ppp3cb'

379575

Institutional Source

Beutler Lab

Gene Symbol

Ppp3cb

Ensembl Gene

ENSMUSG00000021816

Gene Name

protein phosphatase 3, catalytic subunit, beta isoform

Synonyms

Calnb, PP2BA beta, Cnab, CnAbeta, 1110063J16Rik

MMRRC Submission

042513-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4911 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20499364-20546573 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20509440 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 416 (M416K)

Ref Sequence

ENSEMBL: ENSMUSP00000022355 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022355] [ENSMUST00000159027] [ENSMUST00000161445] [ENSMUST00000161989]

AlphaFold

P48453

Predicted Effect

probably damaging
Transcript: ENSMUST00000022355
AA Change: M416K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022355
Gene: ENSMUSG00000021816
AA Change: M416K

Domain	Start	End	E-Value	Type
low complexity region	2	20	N/A	INTRINSIC
PP2Ac	65	356	5.03e-166	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000159027
AA Change: M416K

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125722
Gene: ENSMUSG00000021816
AA Change: M416K

Domain	Start	End	E-Value	Type
low complexity region	2	20	N/A	INTRINSIC
PP2Ac	65	356	5.03e-166	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161445
AA Change: M415K

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125630
Gene: ENSMUSG00000021816
AA Change: M415K

Domain	Start	End	E-Value	Type
low complexity region	2	20	N/A	INTRINSIC
PP2Ac	65	356	5.03e-166	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161989
AA Change: M416K

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125582
Gene: ENSMUSG00000021816
AA Change: M416K

Domain	Start	End	E-Value	Type
low complexity region	2	20	N/A	INTRINSIC
PP2Ac	65	356	5.03e-166	SMART
low complexity region	487	497	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162107

Meta Mutation Damage Score

0.9645

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

97% (149/153)

MGI Phenotype

PHENOTYPE: Homozygous null mice have small hearts and thymi, and reduced body weight. Cardiac function is normal, but mice lack a cardiac hypertrophic response to pressure overload, angiotensin II, or isopreteronol. Thymi are hypoplastic, with abnormal T cell development and reduced numbers of T cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 132 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	T	13: 63,170,939		probably null	Het
4430402I18Rik	G	A	19: 28,897,503		probably benign	Het
Aacs	A	G	5: 125,506,160	D260G	possibly damaging	Het
Aadacl4	T	A	4: 144,613,792	L29H	probably damaging	Het
Abca7	T	C	10: 80,012,188		probably null	Het
Adgre1	G	A	17: 57,447,832	M643I	possibly damaging	Het
Adgrl2	A	T	3: 148,890,463	M79K	probably damaging	Het
Ankrd55	T	A	13: 112,323,039		probably null	Het
Arhgap21	A	G	2: 20,858,989	I1257T	probably damaging	Het
Arhgap26	T	A	18: 38,993,637		probably benign	Het
Arhgap39	A	G	15: 76,737,805	S199P	probably damaging	Het
Arhgef5	A	G	6: 43,272,828	D171G	probably benign	Het
Atp7a	T	C	X: 106,120,374	V1305A	probably damaging	Het
B3gnt3	T	A	8: 71,692,934	R263S	probably benign	Het
B9d1	A	C	11: 61,507,671	D59A	probably benign	Het
Bag2	A	T	1: 33,748,276	I55N	probably benign	Het
Bank1	T	C	3: 136,284,243	I29V	probably benign	Het
Bbs2	A	T	8: 94,089,115	D174E	probably damaging	Het
Bmp8b	T	C	4: 123,115,237	W203R	probably damaging	Het
Cacnb2	A	T	2: 14,981,340	E359D	possibly damaging	Het
Camp	T	A	9: 109,847,583		probably null	Het
Casp4	C	T	9: 5,328,580		probably benign	Het
Ccdc110	A	T	8: 45,942,907	T612S	probably benign	Het
Cd209b	T	A	8: 3,926,640		probably null	Het
Cemip	T	C	7: 83,983,253	D367G	probably damaging	Het
Cers5	T	A	15: 99,747,079	N131I	probably damaging	Het
Chd5	T	G	4: 152,360,672	V370G	probably damaging	Het
Cipc	C	A	12: 86,952,757	Q20K	probably benign	Het
Cnr2	T	A	4: 135,917,201	F197I	possibly damaging	Het
Col7a1	G	A	9: 108,975,219	G2233S	unknown	Het
Dcdc2b	T	A	4: 129,611,267	I125F	possibly damaging	Het
Ddi2	A	G	4: 141,684,402	S400P	probably benign	Het
Ddx31	C	A	2: 28,904,684	T664K	probably benign	Het
Dhx30	C	A	9: 110,100,924	G35C	probably damaging	Het
Dmxl2	G	A	9: 54,411,653	T1576I	probably damaging	Het
Dnah1	T	C	14: 31,295,323	Y1510C	probably damaging	Het
Dnah2	C	T	11: 69,499,104		probably null	Het
Dock10	C	A	1: 80,606,236	G163C	probably damaging	Het
Edar	T	C	10: 58,621,324	N144S	probably benign	Het
Elavl2	T	A	4: 91,308,678	E54D	possibly damaging	Het
Enam	T	G	5: 88,502,314	S561A	probably benign	Het
Ercc5	C	A	1: 44,166,871	H315N	possibly damaging	Het
Esp31	A	G	17: 38,644,661	E65G	possibly damaging	Het
Faap100	T	C	11: 120,372,113	I806M	probably benign	Het
Fam159a	T	C	4: 108,377,461	T70A	probably benign	Het
Fbxw21	T	C	9: 109,145,663	Y263C	probably damaging	Het
Fsip2	T	A	2: 82,981,493	S2719T	possibly damaging	Het
Fv1	T	C	4: 147,869,418	V147A	probably benign	Het
Gal	T	C	19: 3,411,590	E65G	probably benign	Het
Galnt6	T	C	15: 100,716,178	T81A	probably benign	Het
Gcc2	A	G	10: 58,270,439	E399G	probably damaging	Het
Gfi1b	A	T	2: 28,610,102	C306S	probably damaging	Het
Gm10654	T	A	8: 70,931,852		noncoding transcript	Het
Gm20388	A	G	8: 123,080,604		probably benign	Het
Gm4788	T	G	1: 139,774,563	D61A	probably damaging	Het
Gm4953	T	A	1: 159,168,359		noncoding transcript	Het
Gorasp2	T	C	2: 70,688,339		probably benign	Het
Gse1	T	C	8: 120,568,466		probably benign	Het
H2-D1	A	G	17: 35,265,997	E278G	probably damaging	Het
Herc2	T	C	7: 56,227,892	L4569P	probably damaging	Het
Hgs	T	A	11: 120,477,202	S246T	probably damaging	Het
Hs2st1	T	C	3: 144,465,082	T110A	probably benign	Het
Hydin	A	G	8: 110,595,438	Y4574C	probably benign	Het
Ighv1-23	C	A	12: 114,764,752	V17F	possibly damaging	Het
Ighv8-14	A	T	12: 115,808,565		noncoding transcript	Het
Igsf21	C	T	4: 140,034,623	R248H	probably benign	Het
Il23r	T	C	6: 67,423,561	N595S	probably benign	Het
Il5ra	G	T	6: 106,715,668	P372Q	probably damaging	Het
Iltifb	T	C	10: 118,294,989	M1V	probably null	Het
Inppl1	A	G	7: 101,832,309	V222A	possibly damaging	Het
Ints10	T	C	8: 68,827,312	V697A	probably damaging	Het
Isg15	T	A	4: 156,199,760	T104S	probably benign	Het
Kif11	A	G	19: 37,417,937	T983A	probably benign	Het
Kif3b	A	T	2: 153,317,292	K338*	probably null	Het
Kpna2	T	A	11: 106,990,719	I362F	probably damaging	Het
Lama2	G	A	10: 27,138,927	T1595M	probably damaging	Het
Lrrc36	A	G	8: 105,426,935	T126A	probably benign	Het
Lrrk1	T	A	7: 66,295,454	D604V	probably damaging	Het
Map7d1	T	C	4: 126,236,691	K409E	probably damaging	Het
Mast2	T	C	4: 116,353,057	T110A	probably benign	Het
Micall2	G	A	5: 139,716,825	T221M	probably damaging	Het
Morc2b	T	A	17: 33,137,377	N474Y	probably damaging	Het
Myo1e	T	A	9: 70,343,096	M528K	probably benign	Het
Nlrp1c-ps	G	T	11: 71,260,369		noncoding transcript	Het
Nostrin	T	C	2: 69,161,142	S160P	possibly damaging	Het
Nup133	T	C	8: 123,927,131	R530G	possibly damaging	Het
Olfr452	T	A	6: 42,790,204	L55H	probably damaging	Het
Olfr488	T	C	7: 108,256,037	I34V	possibly damaging	Het
Olfr894	A	G	9: 38,219,096	E91G	probably damaging	Het
Pabpc4l	A	T	3: 46,446,162	M349K	possibly damaging	Het
Pah	G	A	10: 87,570,267	G256S	probably benign	Het
Park2	G	T	17: 10,840,472		probably benign	Het
Pigk	T	C	3: 152,740,204	S151P	probably damaging	Het
Plcd4	A	C	1: 74,564,413	T658P	possibly damaging	Het
Pld4	A	T	12: 112,764,517	S178C	probably benign	Het
Polr1a	G	A	6: 71,909,229	E23K	possibly damaging	Het
Pomt1	T	C	2: 32,241,679	S127P	probably damaging	Het
Pon2	A	G	6: 5,269,029	V215A	possibly damaging	Het
Prdm1	A	T	10: 44,442,052	N273K	possibly damaging	Het
Prg4	T	A	1: 150,455,823		probably benign	Het
Ptch1	G	A	13: 63,523,052	T888M	probably damaging	Het
Pusl1	T	G	4: 155,891,442		probably benign	Het
Rapgef6	A	T	11: 54,622,317	E122D	probably damaging	Het
Rif1	C	T	2: 52,110,518	T1328I	probably damaging	Het
Rngtt	T	G	4: 33,500,292		probably null	Het
Runx2	G	A	17: 44,814,192	P80L	probably damaging	Het
Samd1	A	G	8: 83,998,989		probably benign	Het
Scamp5	A	T	9: 57,451,452	F14I	probably damaging	Het
Shank3	C	T	15: 89,504,344	R380C	probably damaging	Het
Slc1a4	C	A	11: 20,332,166	A103S	probably damaging	Het
Slc39a14	A	G	14: 70,309,922	V325A	probably benign	Het
Slc5a9	C	A	4: 111,891,744		probably null	Het
Spta1	T	A	1: 174,185,647	S375T	probably damaging	Het
Sval1	A	G	6: 41,955,444	N76S	probably benign	Het
Synpo	C	T	18: 60,629,864		probably benign	Het
Sytl5	C	T	X: 9,915,602	P181L	possibly damaging	Het
Tacc1	A	G	8: 25,182,606	M111T	possibly damaging	Het
Tec	T	C	5: 72,756,351	D613G	probably benign	Het
Tecpr2	C	T	12: 110,931,487	T391I	possibly damaging	Het
Thop1	G	A	10: 81,073,291	G52D	probably damaging	Het
Tmco5	T	A	2: 116,892,208	V270D	possibly damaging	Het
Ttn	C	T	2: 76,726,629	E28265K	possibly damaging	Het
Tuft1	T	C	3: 94,635,443	D72G	probably damaging	Het
Tyrp1	C	T	4: 80,850,907		probably benign	Het
Usp9y	T	C	Y: 1,308,041	D2265G	probably damaging	Het
Vmn2r104	G	A	17: 20,030,026	A661V	probably benign	Het
Vwa5a	A	T	9: 38,737,972	N672I	probably benign	Het
Wdr95	A	T	5: 149,611,692	K772*	probably null	Het
Ybx1	T	C	4: 119,282,813	T106A	probably benign	Het
Ypel3	T	C	7: 126,777,789	S14P	probably benign	Het
Zfp518a	T	A	19: 40,915,528	S1300R	probably benign	Het
Zscan5b	A	T	7: 6,239,190	*469Y	probably null	Het

Other mutations in Ppp3cb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00702:Ppp3cb	APN	14	20528250	missense	probably benign	0.00
IGL00844:Ppp3cb	APN	14	20531686	missense	possibly damaging	0.95
IGL01859:Ppp3cb	APN	14	20509449	missense	probably damaging	0.99
IGL02490:Ppp3cb	APN	14	20531658	critical splice donor site	probably null
IGL02546:Ppp3cb	APN	14	20501554	missense	probably benign	0.00
IGL02555:Ppp3cb	APN	14	20530953	missense	probably damaging	1.00
IGL02724:Ppp3cb	APN	14	20523577	splice site	probably null
IGL02944:Ppp3cb	APN	14	20528235	missense	probably damaging	1.00
IGL03072:Ppp3cb	APN	14	20531725	missense	probably damaging	1.00
IGL03301:Ppp3cb	APN	14	20523984	missense	probably damaging	0.99
Copacabana	UTSW	14	20530942	critical splice donor site	probably null
eden_express	UTSW	14	20528195	nonsense	probably null
everglades	UTSW	14	20530948	missense	probably damaging	1.00
Havana	UTSW	14	20531752	missense	possibly damaging	0.85
justinian	UTSW	14	20508543	missense	possibly damaging	0.73
Prokopios	UTSW	14	20520652	missense	probably benign	0.05
Redwood	UTSW	14	20509440	missense	probably damaging	1.00
R0026:Ppp3cb	UTSW	14	20531768	missense	probably benign	0.00
R0050:Ppp3cb	UTSW	14	20531752	missense	possibly damaging	0.85
R0050:Ppp3cb	UTSW	14	20531752	missense	possibly damaging	0.85
R0218:Ppp3cb	UTSW	14	20523976	missense	probably damaging	0.99
R0479:Ppp3cb	UTSW	14	20503241	splice site	probably null
R1013:Ppp3cb	UTSW	14	20524004	missense	probably benign
R1061:Ppp3cb	UTSW	14	20508614	splice site	probably null
R1498:Ppp3cb	UTSW	14	20509499	critical splice acceptor site	probably null
R1508:Ppp3cb	UTSW	14	20524424	missense	probably damaging	0.99
R1719:Ppp3cb	UTSW	14	20524063	missense	probably benign	0.05
R1799:Ppp3cb	UTSW	14	20524472	missense	possibly damaging	0.81
R1883:Ppp3cb	UTSW	14	20523845	missense	possibly damaging	0.66
R2082:Ppp3cb	UTSW	14	20508678	missense	possibly damaging	0.66
R2176:Ppp3cb	UTSW	14	20520652	missense	probably benign	0.05
R3021:Ppp3cb	UTSW	14	20523853	nonsense	probably null
R3726:Ppp3cb	UTSW	14	20530942	critical splice donor site	probably null
R4085:Ppp3cb	UTSW	14	20508543	missense	possibly damaging	0.73
R4328:Ppp3cb	UTSW	14	20530948	missense	probably damaging	1.00
R4509:Ppp3cb	UTSW	14	20515501	intron	probably benign
R4600:Ppp3cb	UTSW	14	20520646	missense	possibly damaging	0.60
R4601:Ppp3cb	UTSW	14	20520646	missense	possibly damaging	0.60
R4603:Ppp3cb	UTSW	14	20520646	missense	possibly damaging	0.60
R4610:Ppp3cb	UTSW	14	20520646	missense	possibly damaging	0.60
R4611:Ppp3cb	UTSW	14	20520646	missense	possibly damaging	0.60
R4694:Ppp3cb	UTSW	14	20501515	missense	probably benign	0.00
R4749:Ppp3cb	UTSW	14	20524062	missense	probably damaging	1.00
R4866:Ppp3cb	UTSW	14	20523843	missense	probably damaging	1.00
R5105:Ppp3cb	UTSW	14	20509422	missense	possibly damaging	0.84
R5219:Ppp3cb	UTSW	14	20528195	nonsense	probably null
R5586:Ppp3cb	UTSW	14	20520690	splice site	probably benign
R5740:Ppp3cb	UTSW	14	20501596	missense	possibly damaging	0.76
R6649:Ppp3cb	UTSW	14	20531026	missense	probably damaging	1.00
R7362:Ppp3cb	UTSW	14	20523651	missense	probably benign	0.00
R7493:Ppp3cb	UTSW	14	20508551	missense	probably benign	0.01
R8291:Ppp3cb	UTSW	14	20523594	missense	possibly damaging	0.89
R8438:Ppp3cb	UTSW	14	20515590	missense	probably damaging	0.99
R8515:Ppp3cb	UTSW	14	20531776	missense	probably benign	0.21
R8867:Ppp3cb	UTSW	14	20546449	unclassified	probably benign
R9136:Ppp3cb	UTSW	14	20531799	missense	probably benign	0.33
R9254:Ppp3cb	UTSW	14	20531806	missense	probably benign
R9379:Ppp3cb	UTSW	14	20531806	missense	probably benign
R9516:Ppp3cb	UTSW	14	20523800	missense	probably damaging	1.00
R9670:Ppp3cb	UTSW	14	20528246	missense	probably damaging	1.00
Z1177:Ppp3cb	UTSW	14	20508518	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACCAGCAATCTTTCCTGGTCTG -3'
(R):5'- TCTCCATGTGAGCTGGTAGC -3'

Sequencing Primer
(F):5'- AGGTCCTGGATTTGATACCAGCAC -3'
(R):5'- GAAAGTAGGTTCAGCTGCA -3'

Posted On

2016-04-15