Mutagenetix > Incidental Mutation

Incidental Mutation 'R1719:Ppp3cb'

191320

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1719 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20499364-20546573 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 20524063 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 236 (M236L)

Ref Sequence

ENSEMBL: ENSMUSP00000125722 (fasta)

Gene Model

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

AlphaFold

P48453

Predicted Effect

probably benign
Transcript: ENSMUST00000022355
AA Change: M236L

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000022355
Gene: ENSMUSG00000021816
AA Change: M236L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000159027
AA Change: M236L

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000125722
Gene: ENSMUSG00000021816
AA Change: M236L

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 benign
Transcript: ENSMUST00000161445
AA Change: M236L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000125630
Gene: ENSMUSG00000021816
AA Change: M236L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000161989
AA Change: M236L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000125582
Gene: ENSMUSG00000021816
AA Change: M236L

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: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.3%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	A	T	7: 34,248,206	M459K	probably damaging	Het
A1cf	A	T	19: 31,927,126	K263M	probably damaging	Het
Adam26a	G	A	8: 43,570,036	T139M	possibly damaging	Het
Agrp	G	T	8: 105,566,835	T106K	probably damaging	Het
Akap9	C	T	5: 3,957,645	Q238*	probably null	Het
Ankrd6	A	T	4: 32,828,774	V85E	probably damaging	Het
Ap2b1	C	A	11: 83,324,604	P125T	probably damaging	Het
Arhgef7	C	A	8: 11,808,713		probably null	Het
Cblc	A	T	7: 19,790,474	D280E	probably benign	Het
Cdk11b	T	C	4: 155,648,397		probably benign	Het
Cela2a	G	T	4: 141,817,946	F239L	probably damaging	Het
Cfap57	A	T	4: 118,606,631	C342S	probably benign	Het
Clca4a	C	A	3: 144,963,755	W345L	probably damaging	Het
Col6a5	T	C	9: 105,931,293	D852G	unknown	Het
Cyp4a32	T	C	4: 115,611,308	V329A	possibly damaging	Het
Dcaf8	C	T	1: 172,175,495	P287S	probably damaging	Het
Dmxl1	T	A	18: 49,934,637	D2654E	probably damaging	Het
Dpep1	A	T	8: 123,200,747	I347F	possibly damaging	Het
Dtnb	T	A	12: 3,643,936	Y56*	probably null	Het
Duox1	T	C	2: 122,338,644	Y1182H	possibly damaging	Het
Dusp10	T	A	1: 184,037,225	S129R	probably benign	Het
Epcam	G	A	17: 87,642,128	R173Q	probably damaging	Het
Ephb3	A	G	16: 21,220,650	E384G	probably damaging	Het
Exosc10	A	T	4: 148,568,503	D525V	probably damaging	Het
Fam186a	T	A	15: 99,942,346	T2006S	possibly damaging	Het
Fbxw21	T	A	9: 109,148,174	T156S	possibly damaging	Het
Fcrl5	A	G	3: 87,457,397	E568G	probably damaging	Het
Fmn2	C	T	1: 174,608,458		probably benign	Het
Fut9	A	G	4: 25,619,744	F357L	possibly damaging	Het
Gas2l1	G	A	11: 5,064,266	H65Y	probably damaging	Het
Gjd2	A	T	2: 114,013,133	M1K	probably null	Het
Gm12169	T	C	11: 46,526,294	L13P	probably damaging	Het
Gm884	T	A	11: 103,617,071		probably benign	Het
Hdgfl3	T	C	7: 81,899,684	Y149C	probably damaging	Het
Hmcn2	T	C	2: 31,354,721	V730A	probably damaging	Het
Inpp4a	A	T	1: 37,398,799	S223C	probably damaging	Het
Ip6k1	G	A	9: 108,040,996	E77K	possibly damaging	Het
Knl1	T	A	2: 119,071,738	W1307R	probably benign	Het
Kpna3	A	G	14: 61,387,477	L139P	probably damaging	Het
Lama3	T	C	18: 12,479,872		probably null	Het
Lin54	G	A	5: 100,485,249	P192L	possibly damaging	Het
Lpo	T	A	11: 87,809,192		probably null	Het
Lrrd1	T	G	5: 3,850,483		probably null	Het
Nbas	T	A	12: 13,560,977		probably null	Het
Nemp1	G	A	10: 127,696,248	G341D	probably damaging	Het
Nrp1	T	C	8: 128,425,885	F192L	probably damaging	Het
Nufip2	T	A	11: 77,693,090	V610E	probably damaging	Het
Nup160	T	G	2: 90,700,436	Y479*	probably null	Het
Oas1d	A	T	5: 120,919,962	D323V	possibly damaging	Het
Olfr125	A	G	17: 37,835,353	D118G	possibly damaging	Het
Olfr1338	A	G	4: 118,753,600	W315R	possibly damaging	Het
Olfr140	T	C	2: 90,051,784	Y180C	probably damaging	Het
Olfr147	G	A	9: 38,403,254	V127M	possibly damaging	Het
Olfr204	T	A	16: 59,314,706	R234*	probably null	Het
Olfr25	A	T	9: 38,330,507	T307S	probably benign	Het
Olfr677	C	A	7: 105,056,794	H183N	probably damaging	Het
Pcm1	T	A	8: 41,313,359	M1567K	possibly damaging	Het
Pdxk	A	G	10: 78,443,896	V215A	probably benign	Het
Phf12	T	A	11: 78,023,601	L74Q	probably damaging	Het
Plcg1	A	G	2: 160,753,743	E537G	probably null	Het
Plxna2	C	T	1: 194,644,370	P204L	possibly damaging	Het
Qrsl1	A	T	10: 43,896,030	S55T	probably damaging	Het
Rbm5	T	C	9: 107,743,913		probably null	Het
Sipa1l2	A	G	8: 125,444,535	S1403P	probably damaging	Het
Sis	C	T	3: 72,965,604	C67Y	probably damaging	Het
Specc1	A	G	11: 62,128,392	I686V	possibly damaging	Het
Speg	G	A	1: 75,417,863	E1739K	probably benign	Het
Sprtn	C	A	8: 124,901,633	H154Q	probably damaging	Het
St7l	A	G	3: 104,870,987	T147A	probably benign	Het
Stab1	G	A	14: 31,146,028	Q1630*	probably null	Het
Stpg2	A	G	3: 139,232,199	D173G	probably benign	Het
Tcf20	G	A	15: 82,852,777	T1491I	probably benign	Het
Themis2	A	T	4: 132,789,649	I180N	possibly damaging	Het
Tktl2	G	A	8: 66,512,347	V186M	probably damaging	Het
Ttn	C	T	2: 76,745,634	V24972M	probably damaging	Het
Ttn	A	G	2: 76,807,996	V13980A	probably damaging	Het
Usp5	A	T	6: 124,823,460	M286K	possibly damaging	Het
Vmn2r22	G	A	6: 123,637,843	R263C	possibly damaging	Het
Vmn2r71	T	G	7: 85,621,227	C534G	probably damaging	Het
Wdr60	T	C	12: 116,255,912	I137V	probably benign	Het
Wnk2	C	T	13: 49,060,726	S1460N	possibly damaging	Het
Zfp445	G	A	9: 122,852,642	P745S	probably damaging	Het
Zfp957	C	T	14: 79,213,996	G121D	probably damaging	Het
Zscan4f	A	G	7: 11,401,327	E220G	possibly 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
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
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'- GAATTCTTACCCTGCATCTTGAGCTTCA -3'
(R):5'- GGTGGACTTTCACCAGAAATACACACA -3'

Sequencing Primer
(F):5'- AAAATTCACACACTGCTGGATAG -3'
(R):5'- TACACACACTGGATGATATTAGGAG -3'

Posted On

2014-05-14