Mutagenetix > Incidental Mutation

Incidental Mutation 'R4706:Ppp4r3a'

355251

Institutional Source

Beutler Lab

Gene Symbol

Ppp4r3a

Ensembl Gene

ENSMUSG00000041846

Gene Name

protein phosphatase 4 regulatory subunit 3A

Synonyms

1110034C04Rik, Smek1

MMRRC Submission

041954-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.387) question?

Stock #

R4706 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101039409-101083702 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101041916 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 754 (G754D)

Ref Sequence

ENSEMBL: ENSMUSP00000041667 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048305] [ENSMUST00000163095] [ENSMUST00000223091]

AlphaFold

Q6P2K6

Predicted Effect

probably damaging
Transcript: ENSMUST00000048305
AA Change: G754D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000041667
Gene: ENSMUSG00000041846
AA Change: G754D

Domain	Start	End	E-Value	Type
SCOP:d1k5db_	7	96	3e-24	SMART
Pfam:SMK-1	164	357	5.8e-85	PFAM
low complexity region	407	418	N/A	INTRINSIC
low complexity region	495	503	N/A	INTRINSIC
low complexity region	705	720	N/A	INTRINSIC
low complexity region	753	770	N/A	INTRINSIC
low complexity region	795	808	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000163095
AA Change: G767D

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129654
Gene: ENSMUSG00000041846
AA Change: G767D

Domain	Start	End	E-Value	Type
SCOP:d1k5db_	7	96	4e-24	SMART
Pfam:SMK-1	166	357	2.5e-84	PFAM
low complexity region	508	516	N/A	INTRINSIC
low complexity region	718	733	N/A	INTRINSIC
low complexity region	766	783	N/A	INTRINSIC
low complexity region	808	821	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220642

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222956

Predicted Effect

probably benign
Transcript: ENSMUST00000223091

Predicted Effect

unknown
Transcript: ENSMUST00000223459
AA Change: G135D

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,692,279	M353K	probably benign	Het
Abca16	T	A	7: 120,465,765	N548K	probably damaging	Het
Abcd2	T	C	15: 91,159,182	D601G	probably benign	Het
Afap1l2	A	T	19: 56,937,240	I152N	possibly damaging	Het
Ankrd52	T	G	10: 128,378,161	M62R	probably benign	Het
Aox4	A	T	1: 58,266,787	T1317S	probably damaging	Het
Apol7c	T	A	15: 77,525,723	Q341L	probably benign	Het
Arhgef4	C	T	1: 34,732,217	R1202W	probably benign	Het
B4galnt2	C	T	11: 95,876,097		probably null	Het
BC049762	A	T	11: 51,253,841	F204L	possibly damaging	Het
Cecr2	A	T	6: 120,755,578	E477V	possibly damaging	Het
Chmp7	A	T	14: 69,718,561	D419E	probably benign	Het
Cmip	A	C	8: 117,377,154	K127T	probably damaging	Het
Csmd2	T	C	4: 128,544,751	V3041A	probably benign	Het
Cyp1b1	T	A	17: 79,713,342	I324F	possibly damaging	Het
Dapp1	T	C	3: 137,933,167	D225G	probably benign	Het
Ddx10	T	C	9: 53,233,931	T249A	probably damaging	Het
Dscaml1	T	C	9: 45,450,580	Y213H	probably damaging	Het
Eef1a2	T	C	2: 181,155,357	D17G	probably damaging	Het
Fbn1	T	C	2: 125,370,149	I848V	probably benign	Het
Fbxw18	A	G	9: 109,690,517	I307T	probably benign	Het
Fxr1	T	A	3: 34,064,129	D500E	probably damaging	Het
Gars	G	A	6: 55,069,378	G492D	probably damaging	Het
Gria2	A	T	3: 80,740,990	D146E	probably benign	Het
Gstz1	A	G	12: 87,159,120	N37S	probably benign	Het
Hnrnph3	C	A	10: 63,017,280	G194V	probably damaging	Het
Il2rb	T	C	15: 78,486,400	R172G	possibly damaging	Het
Itga11	T	A	9: 62,755,296	V517D	possibly damaging	Het
Kcnq4	A	G	4: 120,704,486	I462T	probably benign	Het
Klf6	T	A	13: 5,861,640	M1K	probably null	Het
Lrp8	G	A	4: 107,861,273	A817T	probably benign	Het
Map3k5	T	A	10: 20,058,938	Y509N	probably damaging	Het
Mdc1	C	T	17: 35,852,779	S1073F	probably damaging	Het
Mme	A	G	3: 63,348,712	D531G	possibly damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Mroh7	A	T	4: 106,691,624	V1014E	possibly damaging	Het
Myo1d	C	T	11: 80,666,641	C491Y	probably damaging	Het
Ncoa3	C	A	2: 166,047,879	D61E	probably damaging	Het
Nmrk1	A	G	19: 18,645,127	E190G	probably benign	Het
Nr4a2	G	T	2: 57,112,213	P13H	probably damaging	Het
Nup205	T	C	6: 35,202,008	L671P	probably damaging	Het
Olfr1058	G	A	2: 86,386,388	T10I	probably benign	Het
Olfr1221	A	T	2: 89,112,232	F93L	probably damaging	Het
Olfr284	G	T	15: 98,340,778	H70Q	possibly damaging	Het
Olfr429	A	G	1: 174,089,702	I221V	probably damaging	Het
Olfr568	T	A	7: 102,877,433	H104Q	probably damaging	Het
Omt2a	T	C	9: 78,313,070	I16V	probably benign	Het
Osbpl9	A	T	4: 109,156,687	I70N	probably damaging	Het
Pclo	A	T	5: 14,714,207	L4231F	unknown	Het
Per1	C	T	11: 69,100,618		probably benign	Het
Perm1	G	T	4: 156,217,074	C25F	probably damaging	Het
Phf3	A	G	1: 30,805,606	V1424A	probably damaging	Het
Plxnb1	T	G	9: 109,112,028	L1625R	probably damaging	Het
Ppid	G	A	3: 79,599,052	V216I	probably benign	Het
Prex2	G	T	1: 11,199,988	W1299L	probably damaging	Het
Ptprn2	C	A	12: 116,872,094	Q350K	probably benign	Het
Ralyl	G	A	3: 14,039,790		probably null	Het
Rbm8a	G	A	3: 96,630,052		probably benign	Het
Ros1	A	G	10: 52,101,894	S1419P	possibly damaging	Het
Rps6ka5	T	A	12: 100,581,319	I311F	probably damaging	Het
Rps6ka5	C	T	12: 100,597,885		probably null	Het
Rtel1	T	C	2: 181,323,746		probably null	Het
Sacs	A	G	14: 61,204,273	E1256G	probably damaging	Het
Sec23a	A	G	12: 58,982,586	V467A	probably damaging	Het
Sec24d	T	A	3: 123,355,778	N811K	possibly damaging	Het
Sf3b1	G	A	1: 54,990,507	T1112M	probably damaging	Het
Shisa5	T	A	9: 109,056,060	C133S	probably null	Het
Slc16a6	A	G	11: 109,463,367	S59P	probably benign	Het
Slc25a31	G	A	3: 40,716,545	A89T	probably damaging	Het
Slc6a1	G	T	6: 114,307,752	R257L	possibly damaging	Het
Sntb1	C	T	15: 55,749,274	V303M	probably benign	Het
Snx20	A	G	8: 88,627,811	V97A	probably damaging	Het
Vmn1r29	T	A	6: 58,308,151	N285K	probably benign	Het
Vmn2r98	T	G	17: 19,069,745	S514R	probably damaging	Het
Zfp28	A	T	7: 6,389,794	E156D	probably damaging	Het
Zfp39	A	G	11: 58,902,807	V35A	probably benign	Het
Zfp536	A	C	7: 37,569,466	I175S	probably damaging	Het
Zic5	A	T	14: 122,459,557	S549T	unknown	Het

Other mutations in Ppp4r3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Ppp4r3a	APN	12	101049794	missense	probably damaging	1.00
IGL00532:Ppp4r3a	APN	12	101044653	missense	probably damaging	1.00
IGL01359:Ppp4r3a	APN	12	101058496	missense	probably damaging	0.99
IGL01873:Ppp4r3a	APN	12	101041835	missense	possibly damaging	0.86
IGL02676:Ppp4r3a	APN	12	101042511	missense	probably benign	0.00
IGL02756:Ppp4r3a	APN	12	101058323	critical splice donor site	probably null
IGL03196:Ppp4r3a	APN	12	101049654	splice site	probably benign
IGL03206:Ppp4r3a	APN	12	101058619	missense	probably damaging	1.00
R1101:Ppp4r3a	UTSW	12	101051571	missense	probably damaging	0.98
R1434:Ppp4r3a	UTSW	12	101043524	missense	probably damaging	0.99
R1526:Ppp4r3a	UTSW	12	101040741	missense	probably damaging	0.99
R1554:Ppp4r3a	UTSW	12	101055822	missense	probably damaging	1.00
R1650:Ppp4r3a	UTSW	12	101044619	missense	probably damaging	0.99
R1766:Ppp4r3a	UTSW	12	101058482	missense	probably damaging	0.99
R2152:Ppp4r3a	UTSW	12	101042567	missense	probably damaging	0.99
R2322:Ppp4r3a	UTSW	12	101042619	missense	probably damaging	0.98
R2421:Ppp4r3a	UTSW	12	101042653	splice site	probably benign
R2422:Ppp4r3a	UTSW	12	101042653	splice site	probably benign
R2859:Ppp4r3a	UTSW	12	101042647	critical splice acceptor site	probably null
R2884:Ppp4r3a	UTSW	12	101068677	missense	probably damaging	0.99
R4157:Ppp4r3a	UTSW	12	101055619	missense	probably damaging	0.97
R4651:Ppp4r3a	UTSW	12	101082911	utr 5 prime	probably benign
R4652:Ppp4r3a	UTSW	12	101082911	utr 5 prime	probably benign
R4773:Ppp4r3a	UTSW	12	101082767	missense	possibly damaging	0.93
R4775:Ppp4r3a	UTSW	12	101053566	missense	probably damaging	0.99
R5467:Ppp4r3a	UTSW	12	101043470	missense	probably damaging	0.99
R5634:Ppp4r3a	UTSW	12	101043521	missense	probably damaging	1.00
R5704:Ppp4r3a	UTSW	12	101083360	utr 5 prime	probably benign
R5707:Ppp4r3a	UTSW	12	101058511	missense	probably damaging	1.00
R5935:Ppp4r3a	UTSW	12	101051613	missense	probably damaging	1.00
R5969:Ppp4r3a	UTSW	12	101043579	missense	probably benign
R6030:Ppp4r3a	UTSW	12	101058400	missense	probably damaging	0.97
R6030:Ppp4r3a	UTSW	12	101058400	missense	probably damaging	0.97
R6630:Ppp4r3a	UTSW	12	101049776	missense	probably damaging	1.00
R7265:Ppp4r3a	UTSW	12	101053511	missense	possibly damaging	0.77
R7352:Ppp4r3a	UTSW	12	101041832	missense	probably damaging	1.00
R7402:Ppp4r3a	UTSW	12	101058794	missense	possibly damaging	0.94
R7761:Ppp4r3a	UTSW	12	101055821	missense	probably damaging	0.98
R7808:Ppp4r3a	UTSW	12	101053496	missense	possibly damaging	0.94
R7811:Ppp4r3a	UTSW	12	101053562	missense	probably damaging	0.98
R8062:Ppp4r3a	UTSW	12	101041971	missense	probably damaging	0.98
R8222:Ppp4r3a	UTSW	12	101041905	missense	probably benign	0.09
R8409:Ppp4r3a	UTSW	12	101042493	missense	probably benign	0.02
R8435:Ppp4r3a	UTSW	12	101082789	missense	probably benign	0.19
R8471:Ppp4r3a	UTSW	12	101055642	missense	probably benign	0.01
R9010:Ppp4r3a	UTSW	12	101058332	missense	possibly damaging	0.58
R9137:Ppp4r3a	UTSW	12	101055535	missense	possibly damaging	0.95
R9335:Ppp4r3a	UTSW	12	101040754	missense	probably damaging	1.00
R9336:Ppp4r3a	UTSW	12	101049660	missense	probably benign
R9666:Ppp4r3a	UTSW	12	101082870	start codon destroyed	probably null	0.39
R9752:Ppp4r3a	UTSW	12	101042504	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGGAATAAAGACTGCTCCGG -3'
(R):5'- TTCTCAGCAAAGAAATGAGCTGG -3'

Sequencing Primer
(F):5'- TGCTCCGGTAAGCTTAAAGC -3'
(R):5'- GCAAAGAAATGAGCTGGTTACTTATG -3'

Posted On

2015-10-21