Mutagenetix > Incidental Mutation

Incidental Mutation 'R9487:Ppp4r3b'

716681

Institutional Source

Beutler Lab

Gene Symbol

Ppp4r3b

Ensembl Gene

ENSMUSG00000020463

Gene Name

protein phosphatase 4 regulatory subunit 3B

Synonyms

Smek2

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9487 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29172890-29220797 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29174697 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 56 (I56T)

Ref Sequence

ENSEMBL: ENSMUSP00000020755 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020755] [ENSMUST00000102856] [ENSMUST00000156280]

AlphaFold

Q922R5

Predicted Effect

probably damaging
Transcript: ENSMUST00000020755
AA Change: I56T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020755
Gene: ENSMUSG00000020463
AA Change: I56T

Domain	Start	End	E-Value	Type
SCOP:d1k5db_	7	96	2e-24	SMART
low complexity region	116	127	N/A	INTRINSIC
Pfam:SMK-1	168	359	3.6e-84	PFAM
low complexity region	511	519	N/A	INTRINSIC
low complexity region	800	809	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000102856
AA Change: I56T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099920
Gene: ENSMUSG00000020463
AA Change: I56T

Domain	Start	End	E-Value	Type
SCOP:d1k5db_	7	96	2e-25	SMART
low complexity region	116	127	N/A	INTRINSIC
Pfam:SMK-1	166	359	3.8e-87	PFAM
low complexity region	511	519	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000156280
AA Change: I18T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119241
Gene: ENSMUSG00000020463
AA Change: I18T

Domain	Start	End	E-Value	Type
SCOP:d1k5db_	6	58	2e-9	SMART
low complexity region	78	89	N/A	INTRINSIC
Pfam:SMK-1	128	194	3e-27	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	C	T	1: 53,182,506	D55N	possibly damaging	Het
Abcc2	G	A	19: 43,818,032	G762S	probably damaging	Het
Acta2	C	A	19: 34,248,465	A110S	probably damaging	Het
Adam26a	T	C	8: 43,569,419	T345A	possibly damaging	Het
Anapc11	T	C	11: 120,605,424	*85R	probably null	Het
Ang2	A	C	14: 51,195,614	C104G	probably damaging	Het
Ankzf1	G	A	1: 75,197,952	V529I	probably benign	Het
Aox4	G	T	1: 58,248,938	V737F	probably benign	Het
Aqr	T	C	2: 114,104,047	N1371S	probably benign	Het
Bach1	T	A	16: 87,729,845	S732T	probably benign	Het
Bcr	T	A	10: 75,131,599	I555N	probably damaging	Het
Bicra	T	C	7: 15,971,792	T1575A	probably damaging	Het
Bop1	A	G	15: 76,453,876	L598P	probably damaging	Het
Cacna1d	A	T	14: 30,123,462	F605L	possibly damaging	Het
Capn15	C	T	17: 25,965,379	V109I	possibly damaging	Het
Cdkn1b	T	C	6: 134,920,852		probably benign	Het
Dnah2	T	C	11: 69,515,791	T542A	possibly damaging	Het
Dsc2	A	T	18: 20,047,219	I159N	probably damaging	Het
Ecel1	A	T	1: 87,147,994	V774E	probably damaging	Het
Eif5b	T	A	1: 38,019,370	L251*	probably null	Het
Eif5b	T	G	1: 38,045,479	C849W	probably damaging	Het
Ext2	T	C	2: 93,762,611	D416G	probably damaging	Het
Fancm	G	A	12: 65,106,614	W1281*	probably null	Het
Flvcr1	A	T	1: 191,011,632	I409K	possibly damaging	Het
Foxk1	T	C	5: 142,451,634		probably null	Het
Frem2	T	A	3: 53,653,484	I1201F	possibly damaging	Het
Gabra5	A	G	7: 57,508,125		probably benign	Het
Gm340	C	A	19: 41,585,246	N813K	probably damaging	Het
Gmpr2	G	A	14: 55,678,321	V319I	probably damaging	Het
Gna12	A	T	5: 140,760,583	L369Q	probably damaging	Het
Gpr160	A	G	3: 30,896,765	R329G	probably benign	Het
H2-M10.3	T	C	17: 36,366,531	H285R	probably benign	Het
H2-M2	A	T	17: 37,482,533	V194E	probably benign	Het
Hephl1	G	A	9: 15,084,534	R431W	possibly damaging	Het
Hr	A	G	14: 70,556,437	T46A	probably benign	Het
Hr	A	G	14: 70,556,765	H126R	possibly damaging	Het
Hsf1	T	G	15: 76,498,198	D256E	probably benign	Het
Ifi208	C	T	1: 173,683,395	T372I	probably damaging	Het
Ifi47	T	G	11: 49,095,793	F129C	probably damaging	Het
Il1rl2	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	1: 40,327,310		probably benign	Het
Itga11	A	T	9: 62,762,889	N765I	probably benign	Het
Klhl22	T	A	16: 17,771,799	I108K	probably benign	Het
Lancl1	T	G	1: 67,034,222	H34P	probably benign	Het
Lrmp	A	G	6: 145,174,531	I491V	probably benign	Het
Mbd3l1	G	A	9: 18,484,978	G133D	probably benign	Het
Med12l	T	C	3: 59,247,932	F1178L	probably benign	Het
Mrm1	A	T	11: 84,814,705	N289K	probably damaging	Het
Myf6	A	G	10: 107,494,212	Y165H	probably benign	Het
Myo1g	C	A	11: 6,506,913	C971F	probably benign	Het
Myo3a	T	C	2: 22,241,051	M3T	probably benign	Het
Nsrp1	G	A	11: 77,046,288	R361*	probably null	Het
Olfr1055	T	A	2: 86,347,502	D88V	probably benign	Het
Olfr1241	T	C	2: 89,482,412	H241R	probably damaging	Het
Olfr1250	T	C	2: 89,657,387	D18G	probably damaging	Het
Olfr478	A	T	7: 108,031,956	I129N	possibly damaging	Het
Olfr55	C	A	17: 33,176,574	H57Q	possibly damaging	Het
Olfr890	G	A	9: 38,143,570	C140Y	probably benign	Het
Olfr963	A	C	9: 39,669,315	Q86P	possibly damaging	Het
Oscar	T	G	7: 3,611,664	Y103S	probably damaging	Het
Pdpr	A	G	8: 111,126,293	N610S	probably benign	Het
Pxdn	T	A	12: 29,994,553	V510D	possibly damaging	Het
Rab11fip5	T	C	6: 85,347,931	S465G	possibly damaging	Het
Rasgrf2	T	C	13: 92,131,251	T82A	probably benign	Het
Scmh1	G	A	4: 120,463,087	W30*	probably null	Het
Sema4g	T	C	19: 44,992,632	Y40H	probably benign	Het
Serpinf2	A	T	11: 75,432,668	M404K	probably damaging	Het
Sgk3	T	C	1: 9,880,391		probably null	Het
Slc16a5	A	T	11: 115,469,912	Y307F	possibly damaging	Het
Slc39a5	G	A	10: 128,397,759	L290F	probably damaging	Het
Snx32	A	C	19: 5,497,708	D191E	probably damaging	Het
Sp4	T	C	12: 118,299,124	I396V	probably benign	Het
Srrd	A	G	5: 112,342,899	V42A	unknown	Het
Stim1	A	G	7: 102,431,050	H547R	unknown	Het
Svep1	G	A	4: 58,070,517	A2423V	probably benign	Het
Tep1	A	G	14: 50,829,230	S2304P	possibly damaging	Het
Tkt	C	G	14: 30,559,838	S104R	probably benign	Het
Tkt	T	C	14: 30,559,839	S105P	probably damaging	Het
Tln1	A	T	4: 43,542,893	N1365K	probably damaging	Het
Topaz1	G	T	9: 122,775,642	A1104S	probably benign	Het
Trmt2a	A	G	16: 18,250,950	H270R	probably damaging	Het
Ttll10	G	T	4: 156,043,159	T389K	probably benign	Het
Tubal3	A	G	13: 3,930,674	I129V	probably benign	Het
Ucp3	A	G	7: 100,481,916	E192G	probably damaging	Het
Usp47	A	G	7: 112,077,856	D448G	probably damaging	Het
Vmn2r98	T	A	17: 19,081,234	L833M	possibly damaging	Het
Vps13d	A	G	4: 145,081,299		probably null	Het
Wdr7	A	G	18: 63,777,868	D777G	possibly damaging	Het
Zcchc8	A	G	5: 123,709,237	I213T	probably damaging	Het
Zfp281	T	C	1: 136,627,405	I707T	probably damaging	Het
Zfp335	T	C	2: 164,893,475	H1158R	probably damaging	Het
Zfp692	C	T	11: 58,308,939	T118M	probably damaging	Het
Zfr2	T	A	10: 81,240,135	L192Q	probably benign	Het

Other mutations in Ppp4r3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Ppp4r3b	APN	11	29211782	missense	possibly damaging	0.64
IGL00593:Ppp4r3b	APN	11	29197205	missense	possibly damaging	0.88
IGL01109:Ppp4r3b	APN	11	29188288	missense	probably damaging	0.97
IGL01311:Ppp4r3b	APN	11	29194591	missense	probably benign
IGL01397:Ppp4r3b	APN	11	29213594	missense	probably benign	0.05
IGL01546:Ppp4r3b	APN	11	29209488	splice site	probably null
IGL02588:Ppp4r3b	APN	11	29198853	nonsense	probably null
IGL02713:Ppp4r3b	APN	11	29188445	missense	probably damaging	0.98
IGL02717:Ppp4r3b	APN	11	29173315	missense	probably benign	0.01
brando	UTSW	11	29211667	missense	probably benign
Debatable	UTSW	11	29209436	missense	possibly damaging	0.86
Kindness	UTSW	11	29173449	critical splice donor site	probably null
Maris	UTSW	11	29209356	missense	probably damaging	1.00
Stella	UTSW	11	29196290	missense	probably null
PIT1430001:Ppp4r3b	UTSW	11	29209434	missense	probably benign	0.04
PIT4677001:Ppp4r3b	UTSW	11	29187978	missense	probably benign
R0766:Ppp4r3b	UTSW	11	29173358	missense	probably benign	0.16
R1170:Ppp4r3b	UTSW	11	29209426	missense	probably damaging	0.99
R1312:Ppp4r3b	UTSW	11	29173358	missense	probably benign	0.16
R1511:Ppp4r3b	UTSW	11	29182460	missense	probably damaging	1.00
R1692:Ppp4r3b	UTSW	11	29188123	missense	probably benign	0.02
R1699:Ppp4r3b	UTSW	11	29213765	missense	possibly damaging	0.52
R2303:Ppp4r3b	UTSW	11	29200741	missense	possibly damaging	0.79
R2339:Ppp4r3b	UTSW	11	29200725	missense	possibly damaging	0.65
R4378:Ppp4r3b	UTSW	11	29209450	missense	possibly damaging	0.72
R4940:Ppp4r3b	UTSW	11	29211740	missense	probably benign
R5256:Ppp4r3b	UTSW	11	29188293	missense	probably benign	0.22
R5266:Ppp4r3b	UTSW	11	29173309	missense	possibly damaging	0.63
R5286:Ppp4r3b	UTSW	11	29211667	missense	probably benign
R5354:Ppp4r3b	UTSW	11	29211646	missense	probably benign	0.26
R5877:Ppp4r3b	UTSW	11	29209356	missense	probably damaging	1.00
R6364:Ppp4r3b	UTSW	11	29188035	missense	probably benign	0.00
R6539:Ppp4r3b	UTSW	11	29218503	missense	probably benign	0.00
R6773:Ppp4r3b	UTSW	11	29205639	missense	probably benign	0.02
R6931:Ppp4r3b	UTSW	11	29211786	missense	possibly damaging	0.88
R7051:Ppp4r3b	UTSW	11	29182507	missense	probably damaging	1.00
R7176:Ppp4r3b	UTSW	11	29198904	missense	probably damaging	1.00
R7569:Ppp4r3b	UTSW	11	29188540	missense	possibly damaging	0.91
R7741:Ppp4r3b	UTSW	11	29205701	missense	possibly damaging	0.78
R7746:Ppp4r3b	UTSW	11	29173352	missense	probably benign	0.00
R7810:Ppp4r3b	UTSW	11	29188086	missense	probably benign	0.02
R8129:Ppp4r3b	UTSW	11	29209364	missense	probably damaging	1.00
R8680:Ppp4r3b	UTSW	11	29173449	critical splice donor site	probably null
R8685:Ppp4r3b	UTSW	11	29209436	missense	possibly damaging	0.86
R8910:Ppp4r3b	UTSW	11	29196290	missense	probably null
R8928:Ppp4r3b	UTSW	11	29194598	missense	probably benign	0.00
R8947:Ppp4r3b	UTSW	11	29200758	missense	possibly damaging	0.63
R8954:Ppp4r3b	UTSW	11	29205669	missense	possibly damaging	0.64
R8991:Ppp4r3b	UTSW	11	29173306	start codon destroyed	probably damaging	1.00
R9068:Ppp4r3b	UTSW	11	29209396	missense	probably benign	0.01
R9225:Ppp4r3b	UTSW	11	29205648	missense	possibly damaging	0.95
R9417:Ppp4r3b	UTSW	11	29194598	missense	probably benign	0.00
R9635:Ppp4r3b	UTSW	11	29188113	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCTTCTGAGGACATATGGAGGTAGG -3'
(R):5'- CAGTCTGAAACTCTCAAACTGAAG -3'

Sequencing Primer
(F):5'- GGATGAAACAGTCTAAGTTAACCATG -3'
(R):5'- ATAATACATCCTGGATCACAG -3'

Posted On

2022-07-18