Mutagenetix > Incidental Mutation

Incidental Mutation 'R4749:Ppp3cb'

357425

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

041969-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4749 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20499364-20546573 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20524062 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 236 (M236K)

Ref Sequence

ENSEMBL: ENSMUSP00000125722 (fasta)

Gene Model

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

AlphaFold

P48453

Predicted Effect

probably damaging
Transcript: ENSMUST00000022355
AA Change: M236K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022355
Gene: ENSMUSG00000021816
AA Change: M236K

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: M236K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125722
Gene: ENSMUSG00000021816
AA Change: M236K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160812

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161332

Predicted Effect

probably damaging
Transcript: ENSMUST00000161445
AA Change: M236K

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

SMART Domains

Protein: ENSMUSP00000125630
Gene: ENSMUSG00000021816
AA Change: M236K

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: ENSMUST00000161989
AA Change: M236K

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

SMART Domains

Protein: ENSMUSP00000125582
Gene: ENSMUSG00000021816
AA Change: M236K

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	T	19: 57,215,721	D79E	probably benign	Het
Adgra2	A	G	8: 27,114,197	K472E	probably damaging	Het
Akap9	A	G	5: 3,968,737	D1106G	probably benign	Het
Arhgap35	T	C	7: 16,498,626	E1367G	possibly damaging	Het
Arsi	A	T	18: 60,917,461	Y472F	probably benign	Het
Asxl3	A	G	18: 22,516,769	D605G	probably damaging	Het
Atp6v1e2	C	T	17: 86,944,707	D88N	probably benign	Het
BC061237	T	A	14: 44,506,012	V169E	probably damaging	Het
C1galt1	A	G	6: 7,866,379	E75G	probably benign	Het
C530008M17Rik	T	C	5: 76,858,834	V1014A	unknown	Het
C9	G	A	15: 6,489,830	V383I	probably benign	Het
Ccdc88a	A	G	11: 29,482,720	K222R	probably benign	Het
Ccna2	T	C	3: 36,566,242	S421G	probably benign	Het
Cflar	T	G	1: 58,740,272	V229G	possibly damaging	Het
Clcn1	A	G	6: 42,290,197		probably null	Het
Col14a1	T	A	15: 55,452,336	F1342L	unknown	Het
Colq	C	T	14: 31,529,515	R313H	possibly damaging	Het
Coro6	A	G	11: 77,469,148	E345G	probably damaging	Het
Cyb561	A	G	11: 105,935,882	F182L	probably benign	Het
Dap3	A	G	3: 88,926,310	S317P	probably benign	Het
Dnah9	G	A	11: 65,834,115	A4404V	probably damaging	Het
Dsg4	A	G	18: 20,446,831	E31G	possibly damaging	Het
Dsn1	G	A	2: 157,001,740	L147F	probably damaging	Het
Dysf	T	C	6: 84,067,008	V277A	probably damaging	Het
Eprs	T	A	1: 185,396,130	I569K	probably damaging	Het
Erg	T	C	16: 95,361,170	N342S	probably damaging	Het
Fam114a1	G	A	5: 65,009,066	D247N	probably damaging	Het
Fat2	A	G	11: 55,311,468	V260A	probably benign	Het
Foxn4	T	C	5: 114,255,567	D497G	probably damaging	Het
Fsip2	A	G	2: 82,989,285	I5121V	probably benign	Het
Gcn1l1	T	A	5: 115,614,402	D2155E	probably benign	Het
Glra1	C	A	11: 55,536,384	D42Y	probably damaging	Het
Gpr171	A	G	3: 59,097,466	V296A	probably benign	Het
Grid1	T	A	14: 35,580,687	S970T	possibly damaging	Het
Hcn3	A	T	3: 89,150,063		probably null	Het
Helb	T	C	10: 120,084,849	D1063G	probably benign	Het
Hsd3b3	G	A	3: 98,742,615	P131S	probably damaging	Het
Hsp90b1	A	G	10: 86,701,808	V211A	probably damaging	Het
Htr2c	A	G	X: 147,193,797	T163A	probably benign	Het
Ifi208	T	A	1: 173,695,614	D483E	possibly damaging	Het
Kbtbd6	T	A	14: 79,453,287	V474E	possibly damaging	Het
Kif21b	T	A	1: 136,144,749	Y64*	probably null	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Map3k10	T	C	7: 27,658,361	D664G	possibly damaging	Het
Map3k5	C	A	10: 20,132,052	S1201Y	probably benign	Het
Mcm2	T	C	6: 88,891,991	E293G	possibly damaging	Het
Med21	T	A	6: 146,650,101		probably null	Het
Mettl18	T	C	1: 163,996,785	V225A	probably benign	Het
Mmp10	A	T	9: 7,508,168	I432F	probably damaging	Het
Muc5b	T	G	7: 141,861,448	Y2710*	probably null	Het
Neurl4	A	T	11: 69,911,068	I1282F	probably benign	Het
Nipbl	A	T	15: 8,365,829	H191Q	possibly damaging	Het
Nktr	A	G	9: 121,741,693	D167G	probably damaging	Het
Nrap	A	G	19: 56,380,237	I249T	probably damaging	Het
Nsfl1c	A	G	2: 151,509,606	T297A	probably benign	Het
Oit3	A	T	10: 59,424,082	C500S	probably damaging	Het
Olfr1163	T	A	2: 88,070,612	I257L	probably benign	Het
Olfr1238	C	T	2: 89,406,255	V275I	probably benign	Het
Olfr1449	C	T	19: 12,935,217	H160Y	probably benign	Het
Olfr20	G	A	11: 73,354,496	V248M	probably damaging	Het
Olfr731	A	G	14: 50,238,733	S51P	probably damaging	Het
Pcnx2	T	C	8: 125,887,588	S375G	probably damaging	Het
Phf2	A	T	13: 48,821,709		probably null	Het
Piezo1	A	T	8: 122,486,939	M1739K	possibly damaging	Het
Piezo1	G	T	8: 122,498,206	Q654K	probably damaging	Het
Pml	C	T	9: 58,234,652	R299H	probably damaging	Het
Prkch	T	A	12: 73,692,960	C203S	probably damaging	Het
Prob1	C	T	18: 35,652,816	R795H	possibly damaging	Het
Prr22	G	C	17: 56,771,274	E142D	possibly damaging	Het
Prss56	C	A	1: 87,185,583	A211E	possibly damaging	Het
Qser1	A	C	2: 104,787,304	S1054R	probably benign	Het
Rhbdl2	T	C	4: 123,826,901		probably null	Het
Rhot2	C	A	17: 25,844,274	G19V	probably damaging	Het
Rp1l1	C	T	14: 64,029,800	T945M	probably damaging	Het
Ryr3	T	C	2: 112,964,405	T121A	possibly damaging	Het
Sdad1	C	T	5: 92,304,977	R134Q	possibly damaging	Het
Secisbp2l	C	T	2: 125,740,737	G933D	possibly damaging	Het
Sharpin	T	A	15: 76,347,567	D314V	probably damaging	Het
Slc14a2	A	T	18: 78,155,581	L778Q	probably damaging	Het
Slc29a3	A	G	10: 60,716,326	V313A	probably benign	Het
Slc4a11	C	A	2: 130,690,867	R222L	probably damaging	Het
Slc7a10	C	T	7: 35,200,762	P502S	probably damaging	Het
Sort1	T	G	3: 108,356,323	Y812*	probably null	Het
Spata31d1b	G	A	13: 59,718,358	V1107M	probably damaging	Het
Tcp10b	G	A	17: 13,070,945		probably null	Het
Tmem8	T	C	17: 26,116,783	F48S	probably damaging	Het
Tnc	T	C	4: 63,995,639	D1312G	possibly damaging	Het
Tomm40l	G	A	1: 171,219,562	R296*	probably null	Het
Topors	A	T	4: 40,261,015	S756R	unknown	Het
Trim9	T	C	12: 70,248,273	N688D	probably damaging	Het
Ube2o	T	C	11: 116,541,908	D744G	probably benign	Het
Vmn1r224	A	G	17: 20,419,751	I197V	probably benign	Het
Zc3h18	A	T	8: 122,383,643	D77V	probably damaging	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
R4866:Ppp3cb	UTSW	14	20523843	missense	probably damaging	1.00
R4911:Ppp3cb	UTSW	14	20509440	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'- CCCTGCATCTTGAGCTTCATGAG -3'
(R):5'- ACTGGTTAGTAGACTGATTCAAGG -3'

Sequencing Primer
(F):5'- TTGCAAAAATTCACACACTGCTGG -3'
(R):5'- GACTGATTCAAGGAAATAGCTCTTGG -3'

Posted On

2015-11-11