Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4548:Ppp1r3f'

512146

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r3f

Ensembl Gene

ENSMUSG00000039556

Gene Name

protein phosphatase 1, regulatory subunit 3F

Synonyms

RF3, Sfc15, DXImx48e

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.031) question?

Stock #

FR4548 ()

Quality Score

221.999

Status

Not validated

Chromosome

Chromosomal Location

7424815-7440541 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 7426575 bp (GRCm39)

Zygosity

Homozygous

Amino Acid Change

Glycine to Valine at position 562 (G562V)

Ref Sequence

ENSEMBL: ENSMUSP00000122903 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115742] [ENSMUST00000150787]

AlphaFold

Q9JIG4

Predicted Effect

probably damaging
Transcript: ENSMUST00000115742
AA Change: G561V

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

SMART Domains

Protein: ENSMUSP00000111407
Gene: ENSMUSG00000039556
AA Change: G561V

Domain	Start	End	E-Value	Type
low complexity region	9	37	N/A	INTRINSIC
low complexity region	66	96	N/A	INTRINSIC
Pfam:CBM_21	147	283	5.6e-30	PFAM
low complexity region	296	316	N/A	INTRINSIC
low complexity region	330	343	N/A	INTRINSIC
low complexity region	569	580	N/A	INTRINSIC
low complexity region	585	599	N/A	INTRINSIC
transmembrane domain	776	798	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123090

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126170

Predicted Effect

unknown
Transcript: ENSMUST00000132788
AA Change: G240V

SMART Domains

Protein: ENSMUSP00000116002
Gene: ENSMUSG00000039556
AA Change: G240V

Domain	Start	End	E-Value	Type
low complexity region	249	260	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142447

Predicted Effect

probably damaging
Transcript: ENSMUST00000150787
AA Change: G562V

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

SMART Domains

Protein: ENSMUSP00000122903
Gene: ENSMUSG00000039556
AA Change: G562V

Domain	Start	End	E-Value	Type
low complexity region	9	37	N/A	INTRINSIC
low complexity region	66	96	N/A	INTRINSIC
Pfam:CBM_21	149	283	1.3e-29	PFAM
low complexity region	296	316	N/A	INTRINSIC
low complexity region	330	343	N/A	INTRINSIC
low complexity region	570	581	N/A	INTRINSIC
low complexity region	586	600	N/A	INTRINSIC
transmembrane domain	777	799	N/A	INTRINSIC

Meta Mutation Damage Score

0.5481

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.3%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that has been identified as one of several type-1 protein phosphatase (PP1) regulatory subunits. One or two of these subunits, together with the well-conserved catalytic subunit, can form the PP1 holoenzyme, where the regulatory subunit functions to regulate substrate specificity and/or targeting to a particular cellular compartment. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 147 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	CTT	CTTTTT	12: 110,634,883 (GRCm39)		probably benign	Het
1700001K19Rik	CTT	CTTTTT	12: 110,634,886 (GRCm39)		probably benign	Het
4930433I11Rik	ACCTC	AC	7: 40,642,480 (GRCm39)		probably benign	Het
Abt1	TTCTTGCT	TT	13: 23,607,881 (GRCm39)		probably benign	Het
Ahdc1	T	TCCC	4: 132,790,071 (GRCm39)		probably benign	Homo
Ahdc1	TCC	TCCCCC	4: 132,790,068 (GRCm39)		probably benign	Homo
AI837181	CGG	CGGGGG	19: 5,475,259 (GRCm39)		probably benign	Het
AI837181	CG	CGGGG	19: 5,475,265 (GRCm39)		probably benign	Het
Anxa2	CCC	CCCTCC	9: 69,387,485 (GRCm39)		probably benign	Het
Anxa7	C	T	14: 20,519,479 (GRCm39)	G113E	probably damaging	Homo
Apc	CCAATAAAG	CCAATAAAGACAATAAAG	18: 34,415,051 (GRCm39)		probably benign	Het
Apol6	T	TGTTA	15: 76,935,645 (GRCm39)		probably null	Homo
Blm	CTAC	CTACTTAC	7: 80,113,517 (GRCm39)		probably null	Homo
Brd2	CTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CAAAAAAAAAAAAAAA	17: 34,335,310 (GRCm39)		probably benign	Het
Bud31	C	T	5: 145,083,345 (GRCm39)	R63C	probably benign	Het
C4b	C	T	17: 34,959,971 (GRCm39)	R335H	probably benign	Het
Cacna1a	ACC	ACCCCC	8: 85,365,346 (GRCm39)		probably benign	Het
Cacna1f	AGG	AGGGGG	X: 7,486,297 (GRCm39)		probably benign	Het
Ccdc170	ACC	ACCCCC	10: 4,511,026 (GRCm39)		probably benign	Het
Cckbr	GGGC	G	7: 105,083,888 (GRCm39)		probably benign	Homo
Cd80	GAAA	GAAAAAA	16: 38,306,681 (GRCm39)		probably benign	Homo
Ces1b	T	C	8: 93,794,720 (GRCm39)	N293S	probably null	Homo
Cgnl1	CGC	CGCGGC	9: 71,631,999 (GRCm39)		probably benign	Het
Cntnap1	CCCAGC	CCCAGCGCCAGC	11: 101,080,398 (GRCm39)		probably benign	Het
Cntnap1	GCC	GCCCCAACC	11: 101,080,420 (GRCm39)		probably benign	Het
Cntnap1	AGCC	AGCCCCCGCC	11: 101,080,419 (GRCm39)		probably benign	Het
Cntnap1	CCAGCC	CCAGCCTCAGCC	11: 101,080,405 (GRCm39)		probably benign	Het
Cracdl	C	A	1: 37,664,117 (GRCm39)	E594*	probably null	Homo
Cracdl	A	G	1: 37,664,183 (GRCm39)	S47P	probably damaging	Homo
Cracdl	T	A	1: 37,664,116 (GRCm39)	E594V	probably benign	Homo
Ctsm	GTGA	GTGAATGA	13: 61,685,651 (GRCm39)		probably null	Homo
Cttnbp2	TGCTGC	TGCTGCCGCTGC	6: 18,367,462 (GRCm39)		probably benign	Het
Dbr1	GAGGAG	GAGGAGTAGGAG	9: 99,465,726 (GRCm39)		probably null	Het
Dusp10	G	T	1: 183,769,253 (GRCm39)	C73F	probably damaging	Homo
Efna4	ATGTGAT	A	3: 89,241,729 (GRCm39)		probably benign	Homo
Eif3a	A	ATTTTT	19: 60,763,729 (GRCm39)		probably benign	Homo
Ermn	TTC	TTCATC	2: 57,938,087 (GRCm39)		probably benign	Het
Ermn	TC	TCTCC	2: 57,938,100 (GRCm39)		probably benign	Het
Fbxo43	GTGCCT	GTGCCTATGCCT	15: 36,152,244 (GRCm39)		probably null	Het
Fscb	A	G	12: 64,519,337 (GRCm39)	S710P	unknown	Het
Fscb	T	A	12: 64,519,339 (GRCm39)	Q709L	unknown	Het
Glod4	A	C	11: 76,134,136 (GRCm39)		probably benign	Homo
Gm14401	A	G	2: 176,778,661 (GRCm39)	D249G	probably benign	Het
Gm4340	AGC	AGCGGC	10: 104,031,934 (GRCm39)		probably benign	Het
Gm4340	AGC	AGCCGC	10: 104,031,931 (GRCm39)		probably benign	Het
Gm8104	T	C	14: 42,967,468 (GRCm39)	S179P	probably damaging	Het
Gm8104	C	T	14: 42,967,466 (GRCm39)	T178I	probably benign	Het
Gpatch11	GGAAGA	GGAAGACGAAGA	17: 79,149,604 (GRCm39)		probably benign	Het
H1f6	GAGAA	GA	13: 23,879,903 (GRCm39)		probably benign	Homo
H2-K2	GTTT	G	17: 34,216,016 (GRCm39)		probably benign	Homo
Hspa1b	GCGCC	GC	17: 35,176,105 (GRCm39)		probably benign	Homo
Ifi211	G	A	1: 173,733,759 (GRCm39)	A134V	possibly damaging	Het
Igf1r	C	CTGGAGATGGAGG	7: 67,875,934 (GRCm39)		probably benign	Het
Igkv9-129	G	A	6: 67,817,018 (GRCm39)	V41I	probably damaging	Het
Ipo9	TCC	TCCCCC	1: 135,314,013 (GRCm39)		probably benign	Het
Kcng4	G	T	8: 120,360,258 (GRCm39)	Y39*	probably null	Homo
Klra2	AG	AGAAATCCACGG	6: 131,198,814 (GRCm39)		probably null	Het
Kmt2b	CTCC	CTCCTCGTCC	7: 30,285,805 (GRCm39)		probably benign	Het
Kng2	G	A	16: 22,819,302 (GRCm39)	Q245*	probably null	Het
Kri1	CTCCTCTTCCTC	CTCCTC	9: 21,192,346 (GRCm39)		probably benign	Het
Krt10	TCCTCC	TCCTCCCCCTCC	11: 99,280,099 (GRCm39)		probably benign	Het
Krt10	TCCTCCAC	TCCTCCACCTCCAC	11: 99,280,102 (GRCm39)		probably benign	Homo
Las1l	TC	TCTTCCGC	X: 94,984,231 (GRCm39)		probably benign	Het
Las1l	GAG	GAGAAG	X: 94,984,429 (GRCm39)		probably benign	Het
Lrit3	GCT	GCTACT	3: 129,582,462 (GRCm39)		probably benign	Het
Lrit3	GCT	GCTACT	3: 129,582,465 (GRCm39)		probably benign	Het
Lrrc63	CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	14: 75,362,622 (GRCm39)		probably benign	Homo
Luzp1	CTCTTCAGA	CTCTTCAGAGGTGGCATCTTCAGA	4: 136,270,499 (GRCm39)		probably benign	Homo
Mast4	CA	CAGTGGGA	13: 102,872,826 (GRCm39)		probably benign	Homo
Med12l	AGC	AGCGGC	3: 59,183,403 (GRCm39)		probably benign	Het
Mn1	GCA	GCACCA	5: 111,567,564 (GRCm39)		probably benign	Het
Morn4	AGGCAGTGAG	AGGCAGTGAGTCCGGCAGTGAG	19: 42,064,548 (GRCm39)		probably benign	Het
Msantd4	A	T	9: 4,384,937 (GRCm39)	I221F	possibly damaging	Homo
Mup21	TATACTT	TATACTTTTTAAATACTT	4: 62,067,582 (GRCm39)		probably benign	Het
Mup21	ATACTT	ATACTTTTTATCTACTT	4: 62,067,583 (GRCm39)		probably benign	Het
Nacad	AGGGTC	AGGGTCGGGGTC	11: 6,549,752 (GRCm39)		probably benign	Het
Nacad	GG	GGCCAGTG	11: 6,549,760 (GRCm39)		probably benign	Het
Ncapd2	CTT	CTTGGTT	6: 125,150,559 (GRCm39)		probably benign	Homo
Nelfe	GACCGGGATCGAGACAGAGAC	GACCGGGATCGAGACAGAGACAAAGACCGGGATCGAGACAGAGAC	17: 35,073,046 (GRCm39)		probably benign	Homo
Nfxl1	CCGGGG	CCGGGGTCGGGG	5: 72,716,458 (GRCm39)		probably benign	Het
Nkx2-6	C	T	14: 69,412,678 (GRCm39)	T282M	probably damaging	Homo
Noc2l	AGGC	AGGCGGC	4: 156,324,549 (GRCm39)		probably benign	Homo
Noc2l	GC	GCTTC	4: 156,324,557 (GRCm39)		probably benign	Het
Nphp3	CACG	C	9: 103,903,138 (GRCm39)		probably benign	Het
Nrg3	TTG	TTGACACTG	14: 38,119,228 (GRCm39)		probably benign	Homo
Or2ak5	T	G	11: 58,611,197 (GRCm39)	I226L	probably benign	Het
Or51f1e	T	TTAG	7: 102,747,516 (GRCm39)		probably null	Homo
Or51v8	G	GAAC	7: 103,320,174 (GRCm39)		probably null	Homo
Or51v8	CAAA	CAAAAAA	7: 103,320,167 (GRCm39)		probably benign	Homo
Or5af2	T	A	11: 58,708,266 (GRCm39)	V144D	possibly damaging	Homo
Osmr	CTC	CTCTTC	15: 6,867,184 (GRCm39)		probably benign	Homo
Patl2	GCT	GCTCCT	2: 121,956,616 (GRCm39)		probably benign	Het
Pdik1l	ACCAC	ACCACCGCCAC	4: 134,006,823 (GRCm39)		probably benign	Homo
Phldb3	GACCC	G	7: 24,328,403 (GRCm39)		probably null	Het
Piezo1	G	A	8: 123,222,308 (GRCm39)	R503W	probably damaging	Homo
Pik3ap1	AG	AGGGG	19: 41,270,384 (GRCm39)		probably benign	Homo
Pkdrej	TG	TGGGAGCG	15: 85,703,881 (GRCm39)		probably benign	Homo
Polr1g	GGATG	GG	7: 19,091,169 (GRCm39)		probably benign	Homo
Prag1	GC	GCAAC	8: 36,571,039 (GRCm39)		probably benign	Homo
Prr13	TCC	TCCGCC	15: 102,370,609 (GRCm39)		probably benign	Het
Prtg	GTAAC	G	9: 72,764,363 (GRCm39)		probably benign	Homo
Ptk2b	C	T	14: 66,411,298 (GRCm39)	R411Q	possibly damaging	Het
Ptms	TTC	TTCGTC	6: 124,891,419 (GRCm39)		probably benign	Het
Ptpn23	G	T	9: 110,216,701 (GRCm39)	P1052T	probably benign	Homo
Rbm33	AGCAGCCGCAGC	AGCAGC	5: 28,599,199 (GRCm39)		probably benign	Het
Setd1a	TGGTGGTGGT	TGGTGGTGGTGGTGGTGGT	7: 127,384,479 (GRCm39)		probably benign	Homo
Setd1a	TGGTAGTGG	TGGTAGTGGCGGTAGTGG	7: 127,384,485 (GRCm39)		probably benign	Homo
Sfswap	CCACTCAGC	CCACTCAGCGCACTCAGC	5: 129,646,813 (GRCm39)		probably benign	Het
Sfswap	AGCCCACTCGGCC	AGCCCACTCGGCCCACTCGGCC	5: 129,646,819 (GRCm39)		probably benign	Homo
Sh3pxd2b	GT	GTGTCTCT	11: 32,373,064 (GRCm39)		probably benign	Homo
Sh3pxd2b	T	TGTCTTG	11: 32,373,065 (GRCm39)		probably benign	Het
Shroom4	GCAGCAACA	GCA	X: 6,536,128 (GRCm39)		probably benign	Het
Six3	GGC	GGCCGC	17: 85,928,791 (GRCm39)		probably benign	Het
Slc12a1	ACC	ACCTTTGGCCACAACCCC	2: 124,996,134 (GRCm39)		probably benign	Homo
Spaca1	GC	GCTCTCTC	4: 34,049,856 (GRCm39)		probably benign	Het
Spag17	AGG	AGGCGG	3: 99,963,570 (GRCm39)		probably benign	Het
Spata31h1	G	GTCATTA	10: 82,126,830 (GRCm39)		probably benign	Homo
Srebf2	G	T	15: 82,069,536 (GRCm39)	A693S	probably damaging	Homo
Supt20	CA	CAGCAGAA	3: 54,635,094 (GRCm39)		probably benign	Het
Supt20	GCAGCA	GCAGCACCAGCA	3: 54,635,078 (GRCm39)		probably benign	Het
Supt20	CAGCAG	CAGCAGGAGCAG	3: 54,635,085 (GRCm39)		probably benign	Het
Syne1	C	A	10: 4,982,969 (GRCm39)	S8652I	probably benign	Homo
Tob1	GCA	GCAACA	11: 94,105,281 (GRCm39)		probably benign	Het
Tob1	AGC	AGCCGC	11: 94,105,295 (GRCm39)		probably benign	Het
Tomm5	CTTCCGC	CTTCCGCATTTTCCGC	4: 45,107,977 (GRCm39)		probably benign	Het
Trav15-2-dv6-2	G	GAAA	14: 53,887,214 (GRCm39)		probably benign	Het
Triobp	TCG	TCGCCG	15: 78,877,590 (GRCm39)		probably benign	Homo
Triobp	TCG	TCGGCG	15: 78,877,587 (GRCm39)		probably benign	Het
Tsbp1	GCA	GCATCA	17: 34,679,039 (GRCm39)		probably benign	Het
Tsen2	GAG	GAGAAG	6: 115,537,029 (GRCm39)		probably benign	Het
Ttf2	TC	TCCGC	3: 100,870,476 (GRCm39)		probably benign	Homo
Tusc1	CGCCAC	CGCCACTGCCAC	4: 93,223,540 (GRCm39)		probably benign	Het
Ubtf	CTC	CTCATC	11: 102,197,784 (GRCm39)		probably benign	Het
Utrn	T	TTCCTGTC	10: 12,509,685 (GRCm39)		probably benign	Homo
Vars1	TGG	TGGAGTCCTGGGGGG	17: 35,234,965 (GRCm39)		probably benign	Homo
Vars1	G	GAGTCCTGGGTGC	17: 35,234,967 (GRCm39)		probably benign	Het
Vmn2r99	G	A	17: 19,614,547 (GRCm39)	G756R	probably damaging	Het
Vps13b	G	T	15: 35,847,103 (GRCm39)	A2629S	probably damaging	Homo
Zc3h13	TGCG	TGCGTGATGAGCG	14: 75,561,039 (GRCm39)		probably benign	Het
Zdhhc16	CACA	CACAACAGGGAAAGCAGTCTGTCAACA	19: 41,930,607 (GRCm39)		probably null	Het
Zfp26	C	A	9: 20,349,842 (GRCm39)	A241S	probably benign	Homo
Zfp335	TCC	TCCCCC	2: 164,749,392 (GRCm39)		probably benign	Het
Zfp598	CACCAC	CACCACAACCAC	17: 24,899,749 (GRCm39)		probably benign	Het
Zfp598	ACCACC	ACCACCCCCACC	17: 24,899,750 (GRCm39)		probably benign	Het
Zfp933	TT	TTTGCCT	4: 147,910,188 (GRCm39)		probably null	Het
Zfp986	G	T	4: 145,625,928 (GRCm39)	R196I	probably benign	Het
Zfp992	G	T	4: 146,550,464 (GRCm39)	E62*	probably null	Het

Other mutations in Ppp1r3f

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03224:Ppp1r3f	APN	X	7,426,821 (GRCm39)	missense	probably benign	0.21
FR4449:Ppp1r3f	UTSW	X	7,426,575 (GRCm39)	missense	probably damaging	1.00
FR4737:Ppp1r3f	UTSW	X	7,426,575 (GRCm39)	missense	probably damaging	1.00
FR4976:Ppp1r3f	UTSW	X	7,426,575 (GRCm39)	missense	probably damaging	1.00
LCD18:Ppp1r3f	UTSW	X	7,426,575 (GRCm39)	missense	probably damaging	1.00
R1446:Ppp1r3f	UTSW	X	7,426,602 (GRCm39)	missense	probably damaging	1.00
Z1177:Ppp1r3f	UTSW	X	7,440,310 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GCTATCACATCTAGAGCTAGAGCG -3'
(R):5'- TTGGAGCAGCTCTACCTGTC -3'

Sequencing Primer
(F):5'- CGCTCTGCCCATGGAAC -3'
(R):5'- TCTCACCTGAGCCGCTTGAG -3'

Posted On

2018-04-05