Mutagenetix > Incidental Mutation

Incidental Mutation 'R4601:Ppp3cb'

345661

Institutional Source

Beutler Lab

Gene Symbol

Ppp3cb

Ensembl Gene

ENSMUSG00000021816

Gene Name

protein phosphatase 3, catalytic subunit, beta isoform

Synonyms

Cnab, CnAbeta, 1110063J16Rik, Calnb, PP2BA beta

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4601 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20549432-20596641 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20570714 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 339 (N339S)

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: N339S

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000022355
Gene: ENSMUSG00000021816
AA Change: N339S

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: ENSMUST00000159027
AA Change: N339S

PolyPhen 2 Score 0.604 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000125722
Gene: ENSMUSG00000021816
AA Change: N339S

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: N339S

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000125630
Gene: ENSMUSG00000021816
AA Change: N339S

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: N339S

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000125582
Gene: ENSMUSG00000021816
AA Change: N339S

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

0.2280

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 94.5%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,827,847 (GRCm39)	D555E	probably damaging	Het
Abca16	T	G	7: 120,035,920 (GRCm39)	F334L	probably damaging	Het
Abcc4	T	A	14: 118,869,575 (GRCm39)	M186L	probably benign	Het
Agap3	T	C	5: 24,681,406 (GRCm39)	L120P	probably damaging	Het
Ak7	G	A	12: 105,679,834 (GRCm39)	V123M	probably benign	Het
Aldh1a7	A	T	19: 20,693,343 (GRCm39)	V192D	probably damaging	Het
Ankrd36	A	G	11: 5,520,102 (GRCm39)	D59G	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Cacna1e	A	G	1: 154,347,359 (GRCm39)	V936A	probably benign	Het
Camkv	T	C	9: 107,823,295 (GRCm39)	V107A	probably damaging	Het
Camp	T	C	9: 109,677,730 (GRCm39)	E80G	probably damaging	Het
Cblif	A	C	19: 11,729,554 (GRCm39)	D171A	probably damaging	Het
Ccdc66	T	C	14: 27,222,377 (GRCm39)	N122S	probably damaging	Het
Cd101	G	A	3: 100,901,204 (GRCm39)	T960M	possibly damaging	Het
Cdk18	A	G	1: 132,044,657 (GRCm39)	V323A	possibly damaging	Het
Celf2	G	T	2: 6,590,831 (GRCm39)	N279K	possibly damaging	Het
Cemip	T	C	7: 83,600,826 (GRCm39)	I932V	probably damaging	Het
Cep250	C	A	2: 155,803,973 (GRCm39)	Q28K	probably benign	Het
Ces2f	T	C	8: 105,676,596 (GRCm39)	C97R	probably damaging	Het
Cfap126	G	T	1: 170,941,627 (GRCm39)	G41C	possibly damaging	Het
Cfap96	A	T	8: 46,423,505 (GRCm39)	I69N	probably damaging	Het
Chat	T	C	14: 32,146,112 (GRCm39)	M354V	probably benign	Het
Clca4b	A	T	3: 144,632,945 (GRCm39)	D168E	possibly damaging	Het
Cpxm1	T	A	2: 130,235,496 (GRCm39)	M499L	possibly damaging	Het
Dennd3	T	A	15: 73,439,009 (GRCm39)	W1126R	probably damaging	Het
Dgkb	T	C	12: 38,652,819 (GRCm39)	S735P	probably damaging	Het
Dlec1	T	C	9: 118,976,202 (GRCm39)		probably null	Het
Dnajc6	T	C	4: 101,468,461 (GRCm39)	F166L	probably damaging	Het
Dph5	A	G	3: 115,693,426 (GRCm39)	N115D	possibly damaging	Het
Ercc3	G	A	18: 32,378,624 (GRCm39)	A202T	probably benign	Het
Erich3	A	T	3: 154,470,375 (GRCm39)	D136V	unknown	Het
Exoc2	T	C	13: 31,066,251 (GRCm39)	N475S	probably benign	Het
Fam217a	T	C	13: 35,095,285 (GRCm39)	D310G	probably damaging	Het
Fam53a	C	T	5: 33,758,007 (GRCm39)	S372N	probably benign	Het
Fbn2	C	G	18: 58,186,805 (GRCm39)	G1699R	probably damaging	Het
Fbxo46	T	C	7: 18,869,489 (GRCm39)	V36A	probably benign	Het
Fhip1a	T	C	3: 85,648,487 (GRCm39)	M26V	probably damaging	Het
G6pc1	A	G	11: 101,263,567 (GRCm39)	Y127C	probably damaging	Het
Gba2	A	G	4: 43,573,810 (GRCm39)	F161L	probably damaging	Het
Gja1	T	C	10: 56,264,325 (GRCm39)	L228P	probably damaging	Het
Gm20834	A	G	Y: 10,323,178 (GRCm39)	V86A	probably benign	Het
Hmcn1	A	T	1: 150,614,396 (GRCm39)	C1337S	probably damaging	Het
Il1rl1	T	A	1: 40,480,460 (GRCm39)	S30T	possibly damaging	Het
Itgb4	A	G	11: 115,896,548 (GRCm39)	T1436A	probably damaging	Het
Itk	T	A	11: 46,227,342 (GRCm39)	Q427L	probably benign	Het
Klhdc4	T	C	8: 122,526,266 (GRCm39)	E291G	probably damaging	Het
Map4	T	A	9: 109,881,887 (GRCm39)	S250R	possibly damaging	Het
Mnt	T	A	11: 74,727,285 (GRCm39)	V57E	possibly damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mtcl2	T	C	2: 156,881,844 (GRCm39)	K736R	probably benign	Het
Musk	A	T	4: 58,301,625 (GRCm39)	I128F	probably damaging	Het
Myh4	G	A	11: 67,141,136 (GRCm39)	A733T	possibly damaging	Het
Myo5a	T	A	9: 75,043,670 (GRCm39)	F220I	probably damaging	Het
Npas3	A	G	12: 54,091,361 (GRCm39)	H305R	probably damaging	Het
Nrcam	A	T	12: 44,637,839 (GRCm39)	Y1132F	probably damaging	Het
Nt5c3b	A	C	11: 100,323,744 (GRCm39)	D189E	probably benign	Het
Nuf2	A	G	1: 169,333,683 (GRCm39)	L331P	probably damaging	Het
Nup214	C	T	2: 31,887,977 (GRCm39)	T646I	probably benign	Het
Or14j9	T	C	17: 37,875,076 (GRCm39)	N42S	probably damaging	Het
Pcdh18	T	C	3: 49,699,174 (GRCm39)	E1096G	probably damaging	Het
Pgm2	T	A	5: 64,265,070 (GRCm39)	F364I	probably benign	Het
Pikfyve	A	G	1: 65,273,421 (GRCm39)	N612S	probably damaging	Het
Pla2g4e	T	G	2: 120,016,863 (GRCm39)	H226P	possibly damaging	Het
Prkd2	G	T	7: 16,577,573 (GRCm39)		probably benign	Het
Rnf133	T	C	6: 23,649,041 (GRCm39)	E296G	possibly damaging	Het
Sav1	A	T	12: 70,031,095 (GRCm39)	D142E	probably benign	Het
Scn3b	C	A	9: 40,199,719 (GRCm39)	P212T	probably damaging	Het
Sel1l	A	T	12: 91,799,827 (GRCm39)		probably null	Het
Septin9	A	G	11: 117,251,310 (GRCm39)	K543E	probably damaging	Het
Serpinb12	T	A	1: 106,876,883 (GRCm39)	D66E	probably benign	Het
Slc35e2	T	C	4: 155,702,106 (GRCm39)	F290S	probably benign	Het
Snrpa	A	G	7: 26,894,958 (GRCm39)	M1T	probably null	Het
Sptlc3	G	A	2: 139,478,600 (GRCm39)	V520I	probably benign	Het
Srpk3	A	G	X: 72,818,547 (GRCm39)	H79R	possibly damaging	Het
Stox2	A	G	8: 47,645,970 (GRCm39)	S497P	probably damaging	Het
Stradb	G	A	1: 59,032,731 (GRCm39)	S361N	probably damaging	Het
Sult3a2	T	C	10: 33,658,083 (GRCm39)	K10R	probably benign	Het
Susd4	A	G	1: 182,686,025 (GRCm39)	N192D	probably damaging	Het
Tcp10a	T	A	17: 7,593,374 (GRCm39)	D32E	probably benign	Het
Tdpoz4	T	A	3: 93,704,339 (GRCm39)	V212D	probably damaging	Het
Tdrd5	T	A	1: 156,111,944 (GRCm39)	T479S	probably benign	Het
Tex10	T	C	4: 48,452,946 (GRCm39)	D671G	probably benign	Het
Tex55	A	G	16: 38,648,380 (GRCm39)	V243A	probably benign	Het
Traj37	T	C	14: 54,418,996 (GRCm39)		probably benign	Het
Ttc7b	G	A	12: 100,466,376 (GRCm39)	R79C	probably damaging	Het
Vmn2r115	T	A	17: 23,565,373 (GRCm39)	L420Q	probably benign	Het
Wdr24	T	A	17: 26,047,181 (GRCm39)		probably null	Het
Wdr81	T	A	11: 75,336,484 (GRCm39)	Q516L	probably damaging	Het
Zfp516	A	G	18: 82,974,164 (GRCm39)	T121A	probably benign	Het
Zmat1	A	T	X: 133,873,694 (GRCm39)	S566T	probably damaging	Homo

Other mutations in Ppp3cb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00702:Ppp3cb	APN	14	20,578,318 (GRCm39)	missense	probably benign	0.00
IGL00844:Ppp3cb	APN	14	20,581,754 (GRCm39)	missense	possibly damaging	0.95
IGL01859:Ppp3cb	APN	14	20,559,517 (GRCm39)	missense	probably damaging	0.99
IGL02490:Ppp3cb	APN	14	20,581,726 (GRCm39)	critical splice donor site	probably null
IGL02546:Ppp3cb	APN	14	20,551,622 (GRCm39)	missense	probably benign	0.00
IGL02555:Ppp3cb	APN	14	20,581,021 (GRCm39)	missense	probably damaging	1.00
IGL02724:Ppp3cb	APN	14	20,573,645 (GRCm39)	splice site	probably null
IGL02944:Ppp3cb	APN	14	20,578,303 (GRCm39)	missense	probably damaging	1.00
IGL03072:Ppp3cb	APN	14	20,581,793 (GRCm39)	missense	probably damaging	1.00
IGL03301:Ppp3cb	APN	14	20,574,052 (GRCm39)	missense	probably damaging	0.99
Copacabana	UTSW	14	20,581,010 (GRCm39)	critical splice donor site	probably null
eden_express	UTSW	14	20,578,263 (GRCm39)	nonsense	probably null
everglades	UTSW	14	20,581,016 (GRCm39)	missense	probably damaging	1.00
Havana	UTSW	14	20,581,820 (GRCm39)	missense	possibly damaging	0.85
justinian	UTSW	14	20,558,611 (GRCm39)	missense	possibly damaging	0.73
Prokopios	UTSW	14	20,570,720 (GRCm39)	missense	probably benign	0.05
Redwood	UTSW	14	20,559,508 (GRCm39)	missense	probably damaging	1.00
R0026:Ppp3cb	UTSW	14	20,581,836 (GRCm39)	missense	probably benign	0.00
R0050:Ppp3cb	UTSW	14	20,581,820 (GRCm39)	missense	possibly damaging	0.85
R0050:Ppp3cb	UTSW	14	20,581,820 (GRCm39)	missense	possibly damaging	0.85
R0218:Ppp3cb	UTSW	14	20,574,044 (GRCm39)	missense	probably damaging	0.99
R0479:Ppp3cb	UTSW	14	20,553,309 (GRCm39)	splice site	probably null
R1013:Ppp3cb	UTSW	14	20,574,072 (GRCm39)	missense	probably benign
R1061:Ppp3cb	UTSW	14	20,558,682 (GRCm39)	splice site	probably null
R1498:Ppp3cb	UTSW	14	20,559,567 (GRCm39)	critical splice acceptor site	probably null
R1508:Ppp3cb	UTSW	14	20,574,492 (GRCm39)	missense	probably damaging	0.99
R1719:Ppp3cb	UTSW	14	20,574,131 (GRCm39)	missense	probably benign	0.05
R1799:Ppp3cb	UTSW	14	20,574,540 (GRCm39)	missense	possibly damaging	0.81
R1883:Ppp3cb	UTSW	14	20,573,913 (GRCm39)	missense	possibly damaging	0.66
R2082:Ppp3cb	UTSW	14	20,558,746 (GRCm39)	missense	possibly damaging	0.66
R2176:Ppp3cb	UTSW	14	20,570,720 (GRCm39)	missense	probably benign	0.05
R3021:Ppp3cb	UTSW	14	20,573,921 (GRCm39)	nonsense	probably null
R3726:Ppp3cb	UTSW	14	20,581,010 (GRCm39)	critical splice donor site	probably null
R4085:Ppp3cb	UTSW	14	20,558,611 (GRCm39)	missense	possibly damaging	0.73
R4328:Ppp3cb	UTSW	14	20,581,016 (GRCm39)	missense	probably damaging	1.00
R4509:Ppp3cb	UTSW	14	20,565,569 (GRCm39)	intron	probably benign
R4600:Ppp3cb	UTSW	14	20,570,714 (GRCm39)	missense	possibly damaging	0.60
R4603:Ppp3cb	UTSW	14	20,570,714 (GRCm39)	missense	possibly damaging	0.60
R4610:Ppp3cb	UTSW	14	20,570,714 (GRCm39)	missense	possibly damaging	0.60
R4611:Ppp3cb	UTSW	14	20,570,714 (GRCm39)	missense	possibly damaging	0.60
R4694:Ppp3cb	UTSW	14	20,551,583 (GRCm39)	missense	probably benign	0.00
R4749:Ppp3cb	UTSW	14	20,574,130 (GRCm39)	missense	probably damaging	1.00
R4866:Ppp3cb	UTSW	14	20,573,911 (GRCm39)	missense	probably damaging	1.00
R4911:Ppp3cb	UTSW	14	20,559,508 (GRCm39)	missense	probably damaging	1.00
R5105:Ppp3cb	UTSW	14	20,559,490 (GRCm39)	missense	possibly damaging	0.84
R5219:Ppp3cb	UTSW	14	20,578,263 (GRCm39)	nonsense	probably null
R5586:Ppp3cb	UTSW	14	20,570,758 (GRCm39)	splice site	probably benign
R5740:Ppp3cb	UTSW	14	20,551,664 (GRCm39)	missense	possibly damaging	0.76
R6649:Ppp3cb	UTSW	14	20,581,094 (GRCm39)	missense	probably damaging	1.00
R7362:Ppp3cb	UTSW	14	20,573,719 (GRCm39)	missense	probably benign	0.00
R7493:Ppp3cb	UTSW	14	20,558,619 (GRCm39)	missense	probably benign	0.01
R8291:Ppp3cb	UTSW	14	20,573,662 (GRCm39)	missense	possibly damaging	0.89
R8438:Ppp3cb	UTSW	14	20,565,658 (GRCm39)	missense	probably damaging	0.99
R8515:Ppp3cb	UTSW	14	20,581,844 (GRCm39)	missense	probably benign	0.21
R8867:Ppp3cb	UTSW	14	20,596,517 (GRCm39)	unclassified	probably benign
R9136:Ppp3cb	UTSW	14	20,581,867 (GRCm39)	missense	probably benign	0.33
R9254:Ppp3cb	UTSW	14	20,581,874 (GRCm39)	missense	probably benign
R9379:Ppp3cb	UTSW	14	20,581,874 (GRCm39)	missense	probably benign
R9516:Ppp3cb	UTSW	14	20,573,868 (GRCm39)	missense	probably damaging	1.00
R9670:Ppp3cb	UTSW	14	20,578,314 (GRCm39)	missense	probably damaging	1.00
Z1177:Ppp3cb	UTSW	14	20,558,586 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TAAGCACAGTGGAACCAGGC -3'
(R):5'- AAATTGCTCATGGCCCTTCTG -3'

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

Posted On

2015-09-25