Mutagenetix > Incidental Mutation

Incidental Mutation 'R4600:Ppp3cb'

345565

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 #

R4600 (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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,195,037 (GRCm39)	F145L	possibly damaging	Het
Aars2	T	A	17: 45,827,847 (GRCm39)	D555E	probably damaging	Het
Ago1	C	A	4: 126,354,185 (GRCm39)	M208I	probably benign	Het
Ak7	G	A	12: 105,679,834 (GRCm39)	V123M	probably benign	Het
Amfr	A	G	8: 94,700,849 (GRCm39)	L537P	probably damaging	Het
Apob	A	G	12: 8,058,568 (GRCm39)	D2317G	probably damaging	Het
Asb6	T	A	2: 30,714,483 (GRCm39)	D209V	probably damaging	Het
AY358078	T	A	14: 52,063,532 (GRCm39)	C393S	possibly damaging	Het
Baz2a	T	A	10: 127,957,052 (GRCm39)	C932S	probably damaging	Het
Btnl10	A	G	11: 58,814,426 (GRCm39)	I369V	probably benign	Het
Ccdc66	T	C	14: 27,222,377 (GRCm39)	N122S	probably damaging	Het
Cfap96	A	T	8: 46,423,505 (GRCm39)	I69N	probably damaging	Het
Clic4	A	T	4: 134,966,300 (GRCm39)		probably null	Het
Col6a3	A	G	1: 90,709,626 (GRCm39)	S1857P	unknown	Het
Cracr2a	A	C	6: 127,580,851 (GRCm39)	D9A	probably benign	Het
Cspg4b	A	G	13: 113,455,783 (GRCm39)	R610G	possibly damaging	Het
Dcst1	T	C	3: 89,263,643 (GRCm39)	E384G	probably benign	Het
Ddx4	T	C	13: 112,748,594 (GRCm39)	K435E	probably damaging	Het
Deaf1	T	A	7: 140,890,884 (GRCm39)	T433S	possibly damaging	Het
Dnah3	T	A	7: 119,689,169 (GRCm39)	M82L	probably benign	Het
Dnhd1	G	T	7: 105,352,851 (GRCm39)	R2668L	probably damaging	Het
Efcab6	C	T	15: 83,831,126 (GRCm39)	G596D	probably benign	Het
Ercc3	G	A	18: 32,378,624 (GRCm39)	A202T	probably benign	Het
Fam181b	C	A	7: 92,729,992 (GRCm39)	A255E	possibly damaging	Het
Fam83e	T	A	7: 45,372,924 (GRCm39)	D178E	probably benign	Het
Frem2	A	G	3: 53,455,228 (GRCm39)	L2116S	possibly damaging	Het
Gm16494	T	A	17: 47,327,723 (GRCm39)	K54*	probably null	Het
Golgb1	A	G	16: 36,738,987 (GRCm39)	D2442G	probably damaging	Het
Greb1l	G	A	18: 10,553,705 (GRCm39)	A1569T	probably damaging	Het
Grik5	C	G	7: 24,767,489 (GRCm39)	E64Q	probably damaging	Het
Gstm5	A	G	3: 107,805,302 (GRCm39)	Y130C	probably damaging	Het
Gucy2e	C	G	11: 69,126,994 (GRCm39)	A160P	possibly damaging	Het
Hydin	A	T	8: 111,293,582 (GRCm39)	T3510S	probably benign	Het
Ift70a1	T	C	2: 75,810,977 (GRCm39)	T369A	probably benign	Het
Itgb2	A	G	10: 77,381,949 (GRCm39)	I84V	probably benign	Het
Itsn1	A	G	16: 91,696,475 (GRCm39)	Q26R	probably damaging	Het
Kat6a	A	G	8: 23,429,327 (GRCm39)	S1561G	probably benign	Het
Khnyn	G	A	14: 56,124,438 (GRCm39)	V231I	probably benign	Het
Kif21b	A	G	1: 136,075,602 (GRCm39)	D243G	probably benign	Het
Klk4	T	A	7: 43,534,762 (GRCm39)	N240K	probably damaging	Het
Knl1	T	C	2: 118,901,025 (GRCm39)	S909P	possibly damaging	Het
Lamb1	A	C	12: 31,373,528 (GRCm39)	D1419A	probably benign	Het
Lin9	T	A	1: 180,508,759 (GRCm39)	V421D	probably damaging	Het
Lipt2	T	C	7: 99,809,519 (GRCm39)	L202P	probably benign	Het
Mbd5	T	G	2: 49,147,209 (GRCm39)	M473R	probably benign	Het
Mcc	A	T	18: 44,652,587 (GRCm39)	I279N	probably damaging	Het
Mcpt9	C	T	14: 56,266,049 (GRCm39)	V60M	probably 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
Mylk2	G	A	2: 152,759,476 (GRCm39)	V389M	probably damaging	Het
Ndufs7	T	A	10: 80,092,501 (GRCm39)	Y203*	probably null	Het
Nup160	T	A	2: 90,515,541 (GRCm39)		probably null	Het
Nup88	G	A	11: 70,860,522 (GRCm39)	R62*	probably null	Het
Or2g7	T	C	17: 38,378,853 (GRCm39)	S264P	probably damaging	Het
Or51af1	T	A	7: 103,141,788 (GRCm39)	Q99L	probably damaging	Het
Or6c207	G	A	10: 129,104,274 (GRCm39)	A306V	probably benign	Het
Or8b8	T	A	9: 37,809,622 (GRCm39)	S307R	probably benign	Het
Or8g33	A	G	9: 39,337,731 (GRCm39)	M212T	probably benign	Het
Os9	T	C	10: 126,934,223 (GRCm39)	N471S	probably benign	Het
Otof	C	T	5: 30,529,244 (GRCm39)	V1757M	probably damaging	Het
Pakap	A	T	4: 57,709,954 (GRCm39)	T300S	probably benign	Het
Pald1	T	C	10: 61,184,395 (GRCm39)	T241A	probably benign	Het
Pappa2	G	A	1: 158,642,015 (GRCm39)	S1347L	probably damaging	Het
Pccb	T	C	9: 100,916,832 (GRCm39)	T27A	probably benign	Het
Pde4dip	A	T	3: 97,603,260 (GRCm39)	V2243D	probably damaging	Het
Pkd2l2	C	A	18: 34,571,254 (GRCm39)	Q590K	probably benign	Het
Pmepa1	G	A	2: 173,070,120 (GRCm39)	P145L	possibly damaging	Het
Rnf133	T	C	6: 23,649,041 (GRCm39)	E296G	possibly damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly 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
Slc46a2	C	T	4: 59,911,886 (GRCm39)	C442Y	probably damaging	Het
Slc7a1	A	G	5: 148,278,869 (GRCm39)	L301P	probably damaging	Het
Spg21	A	G	9: 65,383,257 (GRCm39)	T148A	probably benign	Het
Stox2	A	G	8: 47,645,970 (GRCm39)	S497P	probably damaging	Het
Sult1c2	C	A	17: 54,280,983 (GRCm39)	W40L	probably benign	Het
Sytl2	T	C	7: 90,024,977 (GRCm39)	S322P	probably benign	Het
Telo2	C	A	17: 25,324,122 (GRCm39)	R531L	possibly damaging	Het
Thbs3	T	C	3: 89,131,897 (GRCm39)	V719A	probably damaging	Het
Tlr9	T	A	9: 106,101,732 (GRCm39)	L341Q	probably damaging	Het
Tmprss5	A	G	9: 49,024,548 (GRCm39)	N230D	possibly damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpo	C	T	12: 30,148,228 (GRCm39)	V558M	probably benign	Het
Trex1	T	G	9: 108,887,352 (GRCm39)	Q213P	possibly damaging	Het
Ttc7b	G	A	12: 100,466,376 (GRCm39)	R79C	probably damaging	Het
Ugt1a6a	A	G	1: 88,066,586 (GRCm39)	K131E	probably benign	Het
Vipr1	T	A	9: 121,494,202 (GRCm39)		probably null	Het
Vmn1r22	T	C	6: 57,877,860 (GRCm39)	D39G	probably damaging	Het
Vmn2r58	A	T	7: 41,522,046 (GRCm39)	C17S	probably benign	Het
Vps41	T	C	13: 18,929,453 (GRCm39)	Y63H	probably damaging	Het
Xdh	G	T	17: 74,217,195 (GRCm39)	T691N	probably benign	Het
Zfp518b	T	C	5: 38,830,970 (GRCm39)	N345S	probably damaging	Het
Zfp536	T	A	7: 37,267,918 (GRCm39)	K499N	probably damaging	Het
Zfp963	A	T	8: 70,195,510 (GRCm39)		probably null	Het

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
R4601: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'- AATTGCTCATGGCCCTTCTGTG -3'

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

Posted On

2015-09-25