Mutagenetix > Incidental Mutation

Incidental Mutation 'R1754:Ppp3ca'

193819

Institutional Source

Beutler Lab

Gene Symbol

Ppp3ca

Ensembl Gene

ENSMUSG00000028161

Gene Name

protein phosphatase 3, catalytic subunit, alpha isoform

Synonyms

Caln, PP2BA alpha, 2900074D19Rik, PP2B alpha 1, Calna, CnA, CN

MMRRC Submission

039786-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1754 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

136670124-136937727 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 136881448 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 230 (I230M)

Ref Sequence

ENSEMBL: ENSMUSP00000071040 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056758] [ENSMUST00000070198]

AlphaFold

P63328

Predicted Effect

probably benign
Transcript: ENSMUST00000056758
AA Change: I230M

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000053101
Gene: ENSMUSG00000028161
AA Change: I230M

Domain	Start	End	E-Value	Type
PP2Ac	56	347	2.91e-162	SMART
low complexity region	507	519	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000070198
AA Change: I230M

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000071040
Gene: ENSMUSG00000028161
AA Change: I230M

Domain	Start	End	E-Value	Type
PP2Ac	56	347	2.91e-162	SMART
low complexity region	497	509	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124777

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196170

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit decreased T cell proliferation and abnormal mossy fibers. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563D23Rik	A	G	16: 92,321,031	V123A	probably damaging	Het
Abca2	T	A	2: 25,434,333	L234M	probably benign	Het
Abca3	G	A	17: 24,377,779	S402N	probably benign	Het
Acad12	A	T	5: 121,607,481	V249D	probably benign	Het
Acp4	T	C	7: 44,255,004	I212V	probably benign	Het
Actl6a	T	A	3: 32,718,574	V233D	probably damaging	Het
Aire	T	A	10: 78,030,290	Q533L	probably damaging	Het
Aldh3b3	T	C	19: 3,968,517	S411P	probably benign	Het
Amer2	A	G	14: 60,379,757	K467R	probably damaging	Het
Apol9b	A	T	15: 77,735,762	I253F	probably benign	Het
Arid1b	A	G	17: 5,279,201		probably null	Het
Atp6v0a4	T	C	6: 38,067,829	T494A	probably benign	Het
Atp6v1b2	A	G	8: 69,101,961	D106G	probably benign	Het
Avpr1b	T	C	1: 131,600,101	S121P	probably damaging	Het
Bcl11a	A	C	11: 24,164,724	E689A	probably damaging	Het
Brpf3	T	G	17: 28,821,323	L906R	probably benign	Het
Btn1a1	T	C	13: 23,460,468	K287E	probably benign	Het
Cacna1i	A	G	15: 80,371,529	H871R	probably damaging	Het
Cd14	A	T	18: 36,725,514	L296Q	probably damaging	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Colgalt1	G	T	8: 71,623,179	W490L	probably damaging	Het
Ctnna2	A	G	6: 77,636,749	I273T	possibly damaging	Het
Dnah7a	A	T	1: 53,504,185	D2275E	probably benign	Het
Dnah7a	A	C	1: 53,561,900		probably null	Het
Egfem1	T	C	3: 29,668,333	Y404H	possibly damaging	Het
Esm1	A	T	13: 113,216,696	N171Y	probably damaging	Het
Exoc1	T	G	5: 76,560,322		probably null	Het
Fcho1	A	G	8: 71,711,246	I580T	probably benign	Het
Fgfr1	A	G	8: 25,570,210	H552R	probably damaging	Het
Fsbp	A	G	4: 11,583,906	R202G	probably damaging	Het
Gabra6	A	G	11: 42,316,561	V231A	probably damaging	Het
Gm8765	A	T	13: 50,701,087	T254S	probably damaging	Het
Gmeb1	A	G	4: 132,232,027	S239P	probably benign	Het
Gnpat	T	A	8: 124,877,006	Y208N	probably damaging	Het
Il21	T	C	3: 37,225,525	K114R	possibly damaging	Het
Inhbc	T	C	10: 127,370,293	D35G	possibly damaging	Het
Inpp4b	A	T	8: 81,770,811	T87S	probably damaging	Het
Kcns2	T	C	15: 34,839,517	I342T	possibly damaging	Het
Ky	A	T	9: 102,541,927	T378S	possibly damaging	Het
Lcat	CAT	C	8: 105,941,814		probably null	Het
Lrrc8d	T	C	5: 105,812,657	V311A	probably benign	Het
Mief1	A	G	15: 80,249,602	I287V	probably damaging	Het
Mrpl47	A	G	3: 32,730,084	V179A	probably benign	Het
Mtcl1	T	C	17: 66,380,183	K576R	probably damaging	Het
Myh10	C	A	11: 68,813,058	A1902E	probably damaging	Het
Nlrp3	A	G	11: 59,558,402	T837A	possibly damaging	Het
Nr1i3	T	C	1: 171,217,394	Y132H	probably damaging	Het
Oit3	T	C	10: 59,427,940		probably null	Het
Olfr1186	A	T	2: 88,525,815	R77S	probably damaging	Het
Olfr1467	T	C	19: 13,365,353	S242P	probably damaging	Het
Olfr193	T	A	16: 59,110,581	I10F	probably benign	Het
Olfr30	A	T	11: 58,455,262	M229K	probably damaging	Het
Olfr427	A	G	1: 174,100,033	T192A	probably benign	Het
Olfr533	A	T	7: 140,466,860	I220F	probably damaging	Het
Olfr8	T	A	10: 78,955,697	V164E	probably damaging	Het
Olfr825	G	A	10: 130,163,164	T54I	probably benign	Het
Pdlim4	T	C	11: 54,055,873	E196G	possibly damaging	Het
Pigs	A	G	11: 78,337,847	Y293C	probably damaging	Het
Pkd1l2	A	T	8: 117,030,719	S1527T	possibly damaging	Het
Pkd2l1	A	T	19: 44,155,601	Y344*	probably null	Het
Pmp2	T	C	3: 10,182,224		probably null	Het
Polr3e	T	C	7: 120,939,298		probably null	Het
Ppp5c	T	C	7: 17,005,310	H463R	probably benign	Het
Ptger1	A	G	8: 83,669,297	N328D	probably benign	Het
Rhno1	A	T	6: 128,357,859	I167N	probably benign	Het
Rictor	C	A	15: 6,735,368	P34H	probably damaging	Het
Rnf10	A	C	5: 115,245,865	S630R	probably damaging	Het
Rnf168	A	G	16: 32,299,124	Q501R	probably benign	Het
Rngtt	T	G	4: 33,329,634		probably null	Het
Samd9l	G	T	6: 3,373,126	F1378L	probably damaging	Het
Slc9c1	T	A	16: 45,589,509	M864K	probably benign	Het
Slitrk5	T	C	14: 111,680,519	F525S	probably damaging	Het
Sox6	T	C	7: 115,477,055	M784V	probably benign	Het
Spint2	C	T	7: 29,260,366		probably null	Het
Ssh1	A	T	5: 113,955,845	I276N	probably damaging	Het
Trank1	T	A	9: 111,392,871	V2892D	probably benign	Het
Ttn	C	A	2: 76,751,040	E21424*	probably null	Het
Usp17lc	T	C	7: 103,418,848	I450T	probably benign	Het
Vcan	A	G	13: 89,704,735	V702A	probably benign	Het
Vmn1r36	TA	TAA	6: 66,716,533		probably null	Het
Vmn2r51	G	T	7: 10,099,946	D388E	probably benign	Het
Zfp106	G	A	2: 120,533,763	S721L	probably damaging	Het
Zfp106	A	C	2: 120,533,764	S721A	probably damaging	Het
Zfp189	T	A	4: 49,529,342	H148Q	possibly damaging	Het
Zfp352	A	T	4: 90,223,809	Y62F	probably benign	Het
Zfp839	T	C	12: 110,855,457	V235A	probably damaging	Het
Zfp871	T	C	17: 32,775,334	Y289C	probably damaging	Het

Other mutations in Ppp3ca

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Ppp3ca	APN	3	136935181	missense	probably benign	0.01
IGL01405:Ppp3ca	APN	3	136868721	missense	probably benign	0.33
IGL02061:Ppp3ca	APN	3	136797863	missense	probably benign
IGL02285:Ppp3ca	APN	3	136928626	splice site	probably benign
IGL02472:Ppp3ca	APN	3	136921862	missense	possibly damaging	0.57
IGL02706:Ppp3ca	APN	3	136905318	missense	possibly damaging	0.84
IGL02894:Ppp3ca	APN	3	136797812	missense	probably damaging	1.00
R0325:Ppp3ca	UTSW	3	136935139	missense	probably benign	0.15
R1072:Ppp3ca	UTSW	3	136935127	missense	probably benign
R1427:Ppp3ca	UTSW	3	136921914	missense	probably damaging	1.00
R1524:Ppp3ca	UTSW	3	136797818	missense	probably benign
R1568:Ppp3ca	UTSW	3	136928544	missense	probably benign	0.00
R1800:Ppp3ca	UTSW	3	136935031	missense	probably damaging	0.98
R1844:Ppp3ca	UTSW	3	136921911	missense	probably benign	0.08
R1878:Ppp3ca	UTSW	3	136797878	missense	probably benign	0.03
R2155:Ppp3ca	UTSW	3	136890450	missense	possibly damaging	0.95
R2160:Ppp3ca	UTSW	3	136877630	missense	probably damaging	1.00
R2220:Ppp3ca	UTSW	3	136797924	missense	probably damaging	1.00
R2331:Ppp3ca	UTSW	3	136797819	missense	probably benign
R3052:Ppp3ca	UTSW	3	136797844	missense	probably benign	0.00
R3500:Ppp3ca	UTSW	3	136881512	missense	probably benign	0.00
R4764:Ppp3ca	UTSW	3	136890489	missense	probably damaging	0.99
R4974:Ppp3ca	UTSW	3	136935049	missense	possibly damaging	0.60
R5952:Ppp3ca	UTSW	3	136928571	missense	probably benign	0.08
R6051:Ppp3ca	UTSW	3	136876122	missense	probably damaging	1.00
R6395:Ppp3ca	UTSW	3	136877770	missense	possibly damaging	0.47
R6975:Ppp3ca	UTSW	3	136905301	missense	probably damaging	1.00
R7121:Ppp3ca	UTSW	3	136868626	missense	probably damaging	1.00
R7720:Ppp3ca	UTSW	3	136890489	missense	probably damaging	1.00
R7773:Ppp3ca	UTSW	3	136890461	missense	probably benign
R7828:Ppp3ca	UTSW	3	136797774	missense	probably damaging	1.00
R7830:Ppp3ca	UTSW	3	136868720	missense	probably damaging	1.00
R8108:Ppp3ca	UTSW	3	136932225	splice site	probably null
R8126:Ppp3ca	UTSW	3	136903191	missense	probably damaging	0.99
R8285:Ppp3ca	UTSW	3	136881444	missense	probably damaging	1.00
R8516:Ppp3ca	UTSW	3	136877768	missense	probably damaging	1.00
R8537:Ppp3ca	UTSW	3	136797858	missense	possibly damaging	0.89
R9662:Ppp3ca	UTSW	3	136877740	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACTGGCAGAGTCTCAAAACCAAG -3'
(R):5'- TTACACGCAGGCGTCCATACAG -3'

Sequencing Primer
(F):5'- TAACCAGTGATAGCGACTGTGTC -3'
(R):5'- CCATACAGCACATCTATTTAATAGGC -3'

Posted On

2014-05-23