Mutagenetix > Incidental Mutation

Incidental Mutation 'R2176:Ppp3cb'

236901

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

040178-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2176 (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 20520652 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 337 (V337E)

Ref Sequence

ENSEMBL: ENSMUSP00000125630 (fasta)

Gene Model

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

AlphaFold

P48453

Predicted Effect

probably benign
Transcript: ENSMUST00000022355
AA Change: V337E

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000022355
Gene: ENSMUSG00000021816
AA Change: V337E

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: V337E

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000125722
Gene: ENSMUSG00000021816
AA Change: V337E

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: V337E

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000125630
Gene: ENSMUSG00000021816
AA Change: V337E

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: V337E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000125582
Gene: ENSMUSG00000021816
AA Change: V337E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223854

Meta Mutation Damage Score

0.8741

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (64/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	A	G	9: 103,259,367		probably benign	Het
Adam1a	T	A	5: 121,519,586	Y548F	probably benign	Het
Armc9	T	C	1: 86,199,892	L83P	probably damaging	Het
BC051665	A	T	13: 60,784,530		probably benign	Het
Casp3	A	G	8: 46,629,756	N3S	probably damaging	Het
Ccdc174	G	A	6: 91,888,089	M109I	probably benign	Het
Ccr6	T	A	17: 8,256,241	F93I	probably damaging	Het
Clvs2	T	C	10: 33,595,815	S165G	probably damaging	Het
Cntnap5c	T	C	17: 58,013,946	V171A	probably benign	Het
Dennd5a	C	A	7: 109,905,120		probably null	Het
Dock2	T	A	11: 34,695,217	Y546F	probably benign	Het
Fat2	A	G	11: 55,267,575		probably null	Het
Focad	T	A	4: 88,279,244	Y625N	unknown	Het
Fyb	A	G	15: 6,579,954	K3E	probably damaging	Het
Gm14496	G	A	2: 181,991,337	D38N	probably benign	Het
Gm20403	T	C	12: 54,986,370	T54A	probably benign	Het
Gm9830	A	G	9: 44,464,259		noncoding transcript	Het
Hectd1	A	T	12: 51,745,494	S2487R	probably damaging	Het
Il5ra	A	G	6: 106,738,272	L175S	probably benign	Het
Itgav	C	T	2: 83,803,255	R983C	probably damaging	Het
Kcna10	T	C	3: 107,194,716	V221A	probably damaging	Het
Kif13b	G	A	14: 64,669,671	V35I	probably benign	Het
Kif6	G	A	17: 49,755,230	E473K	probably damaging	Het
Mfsd14a	T	C	3: 116,632,393	T452A	probably benign	Het
Mllt1	A	G	17: 56,897,398	S382P	probably benign	Het
Myo15b	T	C	11: 115,866,572	W1083R	probably damaging	Het
Nell2	T	C	15: 95,435,157	I174V	probably damaging	Het
Noct	G	A	3: 51,249,696		probably null	Het
Nvl	A	T	1: 181,135,074		probably benign	Het
Ofcc1	T	C	13: 40,097,119	S574G	probably benign	Het
Olfr1248	A	T	2: 89,617,580	M204K	possibly damaging	Het
Olfr512	G	A	7: 108,714,132	V248I	probably damaging	Het
Olfr749	T	C	14: 50,736,224	M313V	probably benign	Het
Pip5k1a	A	T	3: 95,065,496	S415T	probably damaging	Het
Pkhd1	G	A	1: 20,553,517	P785S	probably damaging	Het
Plcg2	A	G	8: 117,612,994	Y1048C	probably damaging	Het
Prkg2	T	C	5: 98,966,509		probably benign	Het
Prl7a2	T	G	13: 27,659,106	Y238S	probably benign	Het
Psg28	T	A	7: 18,427,879	D233V	probably damaging	Het
Rad50	A	G	11: 53,698,209	C221R	probably benign	Het
Rgl3	A	G	9: 21,975,958		probably benign	Het
Rgsl1	T	A	1: 153,825,268		probably benign	Het
Ror1	C	A	4: 100,441,874	R815S	probably damaging	Het
Rrp1b	C	A	17: 32,056,560	D360E	probably benign	Het
Ryr3	T	C	2: 112,666,335	Q3682R	possibly damaging	Het
Sdr42e1	A	T	8: 117,662,877	F342I	possibly damaging	Het
Setd5	A	G	6: 113,151,153	R1337G	probably benign	Het
Siglecf	T	C	7: 43,351,716	V36A	probably damaging	Het
Slc4a5	G	A	6: 83,262,560	G152D	probably damaging	Het
Sptbn4	T	G	7: 27,364,162	M2280L	probably benign	Het
Syngr2	T	C	11: 117,812,580	I74T	probably damaging	Het
Tm9sf1	T	C	14: 55,641,409	I175M	possibly damaging	Het
Tmc3	A	G	7: 83,609,308	E502G	probably damaging	Het
Tph1	T	A	7: 46,662,039	D88V	possibly damaging	Het
Tpr	A	G	1: 150,419,940	K979E	possibly damaging	Het
Usp47	A	G	7: 112,092,727	T799A	probably benign	Het
Utf1	A	G	7: 139,944,007	E45G	possibly damaging	Het
Vmn1r208	A	T	13: 22,772,602	C242S	probably damaging	Het
Wrnip1	T	C	13: 32,820,240	I498T	probably damaging	Het
Ypel2	T	A	11: 86,971,873	H18L	probably benign	Het
Zan	T	G	5: 137,421,848	D2849A	unknown	Het
Zfp647	A	T	15: 76,911,660	F267I	probably damaging	Het
Zfp786	G	T	6: 47,820,971	H344Q	possibly damaging	Het
Zswim3	G	T	2: 164,820,694	A365S	probably benign	Het
Zswim5	T	C	4: 116,973,041	W538R	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
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'- TGGAACCAGGCTTTAATTTCCTC -3'
(R):5'- AATTGCTCATGGCCCTTCTG -3'

Sequencing Primer
(F):5'- ACCAGGCTTTAATTTCCTCTAGCAAG -3'
(R):5'- TTACTCTCAGCATGCAGGAG -3'

Posted On

2014-10-02