Mutagenetix > Incidental Mutation

Incidental Mutation 'R4610:Ppp3cb'

344645

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

MMRRC Submission

041821-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4610 (G1)

Quality Score

225

Status

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: 97.4%
20x: 95.5%

Validation Efficiency

98% (121/124)

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,827,847 (GRCm39)	D555E	probably damaging	Het
Adgre1	C	A	17: 57,757,073 (GRCm39)	Q777K	possibly damaging	Het
Agpat4	G	A	17: 12,429,264 (GRCm39)		probably null	Het
Ak7	G	A	12: 105,679,834 (GRCm39)	V123M	probably benign	Het
Ankle1	AT	A	8: 71,859,851 (GRCm39)		probably benign	Het
Ankrd44	T	G	1: 54,805,907 (GRCm39)		probably benign	Het
Aprt	A	T	8: 123,302,154 (GRCm39)		probably null	Het
Aptx	T	C	4: 40,702,766 (GRCm39)		probably null	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
AY358078	T	A	14: 52,063,532 (GRCm39)	C393S	possibly damaging	Het
Bbip1	T	C	19: 53,920,606 (GRCm39)	M1V	probably null	Het
Cacng7	T	A	7: 3,385,207 (GRCm39)	M36K	probably benign	Het
Camta1	A	G	4: 151,169,284 (GRCm39)	W156R	probably damaging	Het
Casd1	G	A	6: 4,631,165 (GRCm39)		probably null	Het
Casz1	T	A	4: 149,017,724 (GRCm39)	Y338N	probably damaging	Het
Ccdc66	T	C	14: 27,222,377 (GRCm39)	N122S	probably damaging	Het
Celf2	G	T	2: 6,590,831 (GRCm39)	N279K	possibly damaging	Het
Cfap96	A	T	8: 46,423,505 (GRCm39)	I69N	probably damaging	Het
Cit	A	G	5: 116,132,146 (GRCm39)	T1801A	probably benign	Het
Cnot2	A	G	10: 116,335,323 (GRCm39)	I275T	probably damaging	Het
Ddx4	T	C	13: 112,748,594 (GRCm39)	K435E	probably damaging	Het
Dnajc6	T	C	4: 101,468,461 (GRCm39)	F166L	probably damaging	Het
Dst	T	C	1: 34,208,937 (GRCm39)	L820P	probably damaging	Het
Dusp11	T	A	6: 85,927,037 (GRCm39)	N193Y	probably damaging	Het
Eif1ad7	T	C	12: 88,238,544 (GRCm39)	N72S	probably benign	Het
Eif3m	A	T	2: 104,843,633 (GRCm39)	N116K	probably benign	Het
Epb41l1	A	T	2: 156,351,181 (GRCm39)	E418D	possibly damaging	Het
Esyt2	T	G	12: 116,282,510 (GRCm39)	N153K	probably damaging	Het
Exoc6b	T	G	6: 84,980,141 (GRCm39)		probably benign	Het
Ezr	C	T	17: 7,007,121 (GRCm39)	E502K	possibly damaging	Het
Fbxw11	T	A	11: 32,661,859 (GRCm39)	Y66N	possibly damaging	Het
Frem2	A	G	3: 53,455,228 (GRCm39)	L2116S	possibly damaging	Het
Fry	T	C	5: 150,309,569 (GRCm39)	L671P	probably damaging	Het
Galnt7	A	G	8: 57,998,803 (GRCm39)	I262T	probably damaging	Het
Glp1r	T	C	17: 31,150,221 (GRCm39)	F381S	probably benign	Het
Gm3867	T	C	9: 36,168,567 (GRCm39)		noncoding transcript	Het
Gm8741	G	T	17: 35,555,062 (GRCm39)		noncoding transcript	Het
Golgb1	A	G	16: 36,738,987 (GRCm39)	D2442G	probably damaging	Het
Gp1bb	A	T	16: 18,439,893 (GRCm39)	L67Q	probably damaging	Het
Gstm7	G	A	3: 107,834,235 (GRCm39)	T206I	possibly damaging	Het
H2bc7	A	T	13: 23,758,231 (GRCm39)	V45E	possibly damaging	Het
Hs3st5	A	T	10: 36,704,802 (GRCm39)	D35V	probably benign	Het
Hspa13	T	C	16: 75,558,190 (GRCm39)	H125R	probably benign	Het
Hspa1a	T	G	17: 35,190,156 (GRCm39)	H249P	probably damaging	Het
Igkv10-95	A	T	6: 68,657,562 (GRCm39)	Q6L	probably damaging	Het
Il1rap	T	A	16: 26,533,526 (GRCm39)	L474H	probably benign	Het
Ipo11	T	A	13: 107,016,245 (GRCm39)	Y489F	probably benign	Het
Itga5	A	G	15: 103,259,259 (GRCm39)	Y723H	probably damaging	Het
Itih2	T	C	2: 10,109,971 (GRCm39)	N594S	probably damaging	Het
Itk	T	A	11: 46,227,342 (GRCm39)	Q427L	probably benign	Het
Kif26b	A	G	1: 178,506,920 (GRCm39)	Y332C	probably damaging	Het
Kmt2c	G	A	5: 25,559,382 (GRCm39)	R1086W	probably damaging	Het
Ktn1	T	A	14: 47,963,636 (GRCm39)		probably benign	Het
Lars2	T	A	9: 123,247,758 (GRCm39)	I305N	probably damaging	Het
Lgmn	G	T	12: 102,366,383 (GRCm39)		probably benign	Het
Ltbp4	C	T	7: 27,006,125 (GRCm39)	E1453K	probably damaging	Het
Lypd8	G	A	11: 58,277,675 (GRCm39)	M152I	probably benign	Het
Man2a1	T	A	17: 65,019,454 (GRCm39)	S773T	probably benign	Het
Map2k6	T	G	11: 110,390,300 (GRCm39)	L278R	probably damaging	Het
Mbtps1	A	T	8: 120,262,086 (GRCm39)	D354E	probably damaging	Het
Mcpt9	C	T	14: 56,266,049 (GRCm39)	V60M	probably damaging	Het
Mical3	C	A	6: 120,911,799 (GRCm39)	E1083*	probably null	Het
Mms19	A	G	19: 41,933,935 (GRCm39)	V811A	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
Mtcl1	T	A	17: 66,684,882 (GRCm39)	H520L	probably benign	Het
Mymk	A	T	2: 26,952,719 (GRCm39)	F130I	probably damaging	Het
Myo1f	C	T	17: 33,801,306 (GRCm39)	R333C	probably damaging	Het
Myo9a	T	A	9: 59,779,165 (GRCm39)	H1640Q	probably benign	Het
Nav1	A	G	1: 135,520,186 (GRCm39)		probably benign	Het
Ncbp3	G	T	11: 72,969,844 (GRCm39)	G564C	probably damaging	Het
Ncoa4	A	T	14: 31,898,682 (GRCm39)	I501L	probably benign	Het
Ngp	T	A	9: 110,249,883 (GRCm39)	N60K	possibly damaging	Het
Npc1l1	G	T	11: 6,178,215 (GRCm39)	D398E	probably damaging	Het
Nphs2	T	A	1: 156,153,701 (GRCm39)	M264K	probably damaging	Het
Or4s2b	G	A	2: 88,508,240 (GRCm39)	V14I	probably benign	Het
Or4s2b	T	G	2: 88,508,523 (GRCm39)	V101G	probably benign	Het
Or7e165	T	A	9: 19,694,442 (GRCm39)	Y4*	probably null	Het
Or8b8	T	A	9: 37,809,622 (GRCm39)	S307R	probably benign	Het
Patz1	A	G	11: 3,256,241 (GRCm39)	Y509C	probably damaging	Het
Pax8	G	A	2: 24,311,595 (GRCm39)	P447S	probably damaging	Het
Pde11a	A	G	2: 75,988,677 (GRCm39)	V488A	probably benign	Het
Pex11g	C	T	8: 3,515,899 (GRCm39)	V45M	probably benign	Het
Pik3ip1	T	A	11: 3,283,327 (GRCm39)	S142R	probably damaging	Het
Pitpnm2	C	G	5: 124,263,434 (GRCm39)	A819P	probably damaging	Het
Pla2g4e	T	G	2: 120,016,863 (GRCm39)	H226P	possibly damaging	Het
Plin4	T	A	17: 56,412,418 (GRCm39)	M538L	probably benign	Het
Rev1	T	C	1: 38,092,730 (GRCm39)	E1202G	probably damaging	Het
Rngtt	T	A	4: 33,339,133 (GRCm39)		probably benign	Het
Serpinb12	T	A	1: 106,876,883 (GRCm39)	D66E	probably benign	Het
Sgsm1	A	T	5: 113,403,173 (GRCm39)	F958Y	probably damaging	Het
Slc35e2	T	C	4: 155,702,106 (GRCm39)	F290S	probably benign	Het
Sorl1	C	T	9: 41,943,210 (GRCm39)	V889M	possibly damaging	Het
Sptlc3	G	A	2: 139,478,600 (GRCm39)	V520I	probably benign	Het
Stam	A	T	2: 14,120,669 (GRCm39)	H53L	probably damaging	Het
Stox2	A	G	8: 47,645,970 (GRCm39)	S497P	probably damaging	Het
Tarbp1	A	G	8: 127,201,069 (GRCm39)	Y246H	probably damaging	Het
Tbx15	A	G	3: 99,259,683 (GRCm39)	Y518C	probably damaging	Het
Tdrd5	T	A	1: 156,111,944 (GRCm39)	T479S	probably benign	Het
Tescl	T	C	7: 24,032,683 (GRCm39)	E214G	probably damaging	Het
Tex10	T	C	4: 48,452,946 (GRCm39)	D671G	probably benign	Het
Tmem132d	A	G	5: 128,061,360 (GRCm39)	V414A	probably benign	Het
Tmem41b	T	A	7: 109,573,941 (GRCm39)		probably benign	Het
Tnfrsf18	A	G	4: 156,106,337 (GRCm39)		probably benign	Het
Tulp4	T	A	17: 6,249,108 (GRCm39)	D42E	probably damaging	Het
Ubtd1	A	G	19: 42,022,103 (GRCm39)	N125S	probably damaging	Het
Ubxn4	T	A	1: 128,183,186 (GRCm39)	F68I	probably benign	Het
Urb1	A	G	16: 90,573,159 (GRCm39)	S958P	probably benign	Het
Vash2	T	C	1: 190,692,498 (GRCm39)	S226G	probably benign	Het
Vmn2r120	C	T	17: 57,816,120 (GRCm39)	G745E	probably damaging	Het
Vmn2r58	T	A	7: 41,487,117 (GRCm39)	I593F	probably benign	Het
Zfp398	T	C	6: 47,817,361 (GRCm39)	L67P	probably damaging	Het
Zfp607b	T	A	7: 27,403,120 (GRCm39)	H525Q	probably damaging	Het
Zfp629	T	C	7: 127,211,492 (GRCm39)	T106A	probably benign	Het
Zfp980	G	A	4: 145,428,653 (GRCm39)	G461S	probably benign	Het
Zic5	T	A	14: 122,702,212 (GRCm39)	D173V	probably damaging	Het
Zranb2	G	A	3: 157,247,521 (GRCm39)		probably benign	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
R4600:Ppp3cb	UTSW	14	20,570,714 (GRCm39)	missense	possibly damaging	0.60
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
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