Mutagenetix > Incidental Mutation

Incidental Mutation 'R5033:Prpf6'

389336

Institutional Source

Beutler Lab

Gene Symbol

Prpf6

Ensembl Gene

ENSMUSG00000002455

Gene Name

pre-mRNA splicing factor 6

Synonyms

ANT-1, U5-102K, 2610031L17Rik, 1190003A07Rik

MMRRC Submission

042624-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5033 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

181591868-181655660 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 181650106 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 739 (C739S)

Ref Sequence

ENSEMBL: ENSMUSP00000121340 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002529] [ENSMUST00000136481]

AlphaFold

Q91YR7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002529
AA Change: C739S

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000002529
Gene: ENSMUSG00000002455
AA Change: C739S

Domain	Start	End	E-Value	Type
Pfam:PRP1_N	13	169	2.5e-52	PFAM
low complexity region	220	236	N/A	INTRINSIC
HAT	289	321	1.83e-1	SMART
HAT	323	355	2.83e1	SMART
HAT	384	416	1.08e-3	SMART
HAT	417	446	1.61e1	SMART
HAT	447	476	6.92e-2	SMART
HAT	554	586	2.2e-4	SMART
HAT	588	620	1.69e2	SMART
HAT	622	654	1.38e-1	SMART
HAT	656	687	3.41e1	SMART
HAT	689	721	3.99e1	SMART
HAT	723	755	3.38e-5	SMART
HAT	757	789	2.48e-3	SMART
HAT	791	823	5.64e1	SMART
Blast:TPR	841	874	2e-14	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000136481
AA Change: C739S

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000121340
Gene: ENSMUSG00000002455
AA Change: C739S

Domain	Start	End	E-Value	Type
Pfam:PRP1_N	13	169	1.3e-62	PFAM
low complexity region	220	236	N/A	INTRINSIC
HAT	289	321	1.83e-1	SMART
HAT	323	355	2.83e1	SMART
HAT	384	416	1.08e-3	SMART
HAT	417	446	1.61e1	SMART
HAT	447	476	6.92e-2	SMART
HAT	554	586	2.2e-4	SMART
HAT	588	620	1.69e2	SMART
HAT	622	654	1.38e-1	SMART
HAT	656	687	3.41e1	SMART
HAT	689	721	3.99e1	SMART
HAT	723	755	3.38e-5	SMART
HAT	757	789	2.48e-3	SMART
HAT	791	823	5.64e1	SMART
Blast:TPR	841	874	2e-14	BLAST

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene appears to be involved in pre-mRNA splicing, possibly acting as a bridging factor between U5 and U4/U6 snRNPs in formation of the spliceosome. The encoded protein also can bind androgen receptor, providing a link between transcriptional activation and splicing. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,794,154 (GRCm38)	C172*	probably null	Het
9930111J21Rik1	G	A	11: 48,947,706 (GRCm38)	R685W	probably damaging	Het
Arhgap10	A	T	8: 77,382,757 (GRCm38)	L399H	probably damaging	Het
Arih2	AGCCG	AG	9: 108,611,660 (GRCm38)		probably benign	Het
Atp13a2	A	G	4: 141,000,821 (GRCm38)	H575R	possibly damaging	Het
Bbof1	G	A	12: 84,411,270 (GRCm38)		probably null	Het
Bltp3a	A	G	17: 27,886,864 (GRCm38)	E788G	probably damaging	Het
Catsperg2	A	C	7: 29,710,134 (GRCm38)	Y545D	possibly damaging	Het
Cdc42bpa	T	A	1: 180,065,015 (GRCm38)	I248N	probably damaging	Het
Cdk11b	A	T	4: 155,648,825 (GRCm38)		probably benign	Het
Cfap46	C	A	7: 139,603,860 (GRCm38)	L90F	probably benign	Het
Cndp2	A	G	18: 84,670,829 (GRCm38)	L276P	possibly damaging	Het
Col3a1	A	C	1: 45,346,110 (GRCm38)	D129A	probably damaging	Het
Daam1	C	A	12: 71,946,520 (GRCm38)	H354Q	unknown	Het
Dnah5	T	A	15: 28,421,678 (GRCm38)	F3892Y	probably damaging	Het
Dnajb3	A	G	1: 88,205,023 (GRCm38)	V219A	possibly damaging	Het
Drd5	A	G	5: 38,320,201 (GRCm38)	H179R	probably damaging	Het
Dym	A	G	18: 75,119,161 (GRCm38)	N333D	possibly damaging	Het
Eif2b3	A	G	4: 117,052,736 (GRCm38)	D156G	probably damaging	Het
Emc1	A	G	4: 139,371,696 (GRCm38)	D830G	probably damaging	Het
F13a1	A	C	13: 36,988,856 (GRCm38)	I183M	probably damaging	Het
Fam136b-ps	T	A	15: 31,276,897 (GRCm38)		probably benign	Het
Fdft1	C	A	14: 63,163,404 (GRCm38)	K93N	probably damaging	Het
Garre1	C	T	7: 34,245,812 (GRCm38)	G336S	probably benign	Het
Gcc2	A	G	10: 58,278,806 (GRCm38)	D959G	probably damaging	Het
Gp2	A	G	7: 119,454,291 (GRCm38)	V149A	probably damaging	Het
Gpc1	G	A	1: 92,857,029 (GRCm38)	G308D	probably damaging	Het
Hdac9	A	T	12: 34,373,907 (GRCm38)	C587S	probably benign	Het
Hspg2	C	T	4: 137,518,940 (GRCm38)	R1010C	probably damaging	Het
Iars2	A	G	1: 185,317,928 (GRCm38)	V453A	possibly damaging	Het
Il1r1	T	G	1: 40,293,524 (GRCm38)	C121W	probably damaging	Het
Inhca	A	G	9: 103,279,414 (GRCm38)	V149A	probably benign	Het
Jazf1	A	G	6: 52,777,540 (GRCm38)	Y184H	probably damaging	Het
Kel	A	T	6: 41,699,055 (GRCm38)	Y234N	probably damaging	Het
Khk	G	A	5: 30,929,660 (GRCm38)	G186D	probably damaging	Het
Klf4	A	T	4: 55,530,301 (GRCm38)	M270K	probably benign	Het
Kmt2c	G	A	5: 25,314,708 (GRCm38)	L2135F	probably benign	Het
Krtap15-1	A	G	16: 88,829,156 (GRCm38)	Y37C	probably damaging	Het
Lars1	A	G	18: 42,214,776 (GRCm38)	F994S	possibly damaging	Het
Ldc1	C	T	4: 130,221,615 (GRCm38)		probably null	Het
Lrp8	T	C	4: 107,834,755 (GRCm38)		probably null	Het
Lrrc2	A	T	9: 110,980,919 (GRCm38)	D341V	probably damaging	Het
Map4k4	A	G	1: 40,007,502 (GRCm38)	K646R	probably damaging	Het
Mrps9	T	A	1: 42,895,331 (GRCm38)		probably null	Het
Or10ag60	T	A	2: 87,607,711 (GRCm38)	C108S	probably damaging	Het
Or11h6	T	A	14: 50,643,162 (GRCm38)	Y288N	probably damaging	Het
Or8c20	C	T	9: 38,349,628 (GRCm38)	H176Y	probably damaging	Het
Pcnt	A	T	10: 76,399,945 (GRCm38)	C1401S	possibly damaging	Het
Pdgfrb	A	T	18: 61,077,668 (GRCm38)	K749M	probably damaging	Het
Pigo	A	T	4: 43,019,412 (GRCm38)	W969R	probably null	Het
Pigr	A	T	1: 130,844,699 (GRCm38)	Y218F	probably damaging	Het
Pih1d1	A	G	7: 45,154,854 (GRCm38)		probably benign	Het
Pik3cg	A	T	12: 32,199,196 (GRCm38)		probably null	Het
Pik3r6	A	T	11: 68,533,468 (GRCm38)	K300*	probably null	Het
Pip5k1c	A	G	10: 81,305,250 (GRCm38)	D64G	probably damaging	Het
Piwil2	A	T	14: 70,421,593 (GRCm38)	I161K	possibly damaging	Het
Pou3f1	A	G	4: 124,658,656 (GRCm38)	E317G	probably damaging	Het
Prdm8	C	T	5: 98,185,212 (GRCm38)	Q213*	probably null	Het
Psmc3	T	A	2: 91,054,608 (GRCm38)	S40T	probably benign	Het
Psmd3	A	T	11: 98,682,824 (GRCm38)	D32V	probably damaging	Het
Ptpro	T	A	6: 137,443,594 (GRCm38)	V1007D	probably damaging	Het
Rapgef6	A	T	11: 54,691,381 (GRCm38)	H1373L	possibly damaging	Het
Rnf207	A	C	4: 152,313,209 (GRCm38)	S328A	probably benign	Het
Ros1	C	T	10: 52,128,416 (GRCm38)		probably null	Het
Ryr2	T	A	13: 11,587,254 (GRCm38)	I4581F	possibly damaging	Het
Sacm1l	C	T	9: 123,586,399 (GRCm38)	R480W	probably damaging	Het
Sec16a	A	G	2: 26,419,649 (GRCm38)	V664A	probably benign	Het
Selenoo	T	A	15: 89,092,766 (GRCm38)	M207K	probably damaging	Het
Sh3tc2	G	A	18: 62,014,891 (GRCm38)		probably null	Het
Slc28a2b	T	A	2: 122,522,914 (GRCm38)		probably null	Het
Slco2b1	G	T	7: 99,660,049 (GRCm38)	Q692K	probably benign	Het
Slfn4	A	T	11: 83,186,797 (GRCm38)	D137V	probably damaging	Het
Srrm2	G	A	17: 23,820,618 (GRCm38)	A2175T	probably damaging	Het
Stard9	T	A	2: 120,693,399 (GRCm38)	C692S	probably benign	Het
Sulf2	T	A	2: 166,081,622 (GRCm38)	D559V	probably benign	Het
Tbpl2	T	C	2: 24,087,158 (GRCm38)	I283V	probably benign	Het
Tmem19	A	G	10: 115,359,761 (GRCm38)	F46S	probably benign	Het
Trp63	T	A	16: 25,763,306 (GRCm38)	Y35N	probably damaging	Het
Ttn	T	A	2: 76,886,442 (GRCm38)		probably benign	Het
Ube2z	A	T	11: 96,050,322 (GRCm38)	H331Q	probably benign	Het
Ubr1	C	T	2: 120,911,997 (GRCm38)		probably null	Het
Vmn1r235	A	T	17: 21,262,288 (GRCm38)	I292F	possibly damaging	Het
Vmn2r1	T	A	3: 64,105,080 (GRCm38)	D787E	probably damaging	Het
Vmn2r3	A	G	3: 64,259,799 (GRCm38)	V637A	probably benign	Het
Xpnpep1	C	A	19: 53,006,175 (GRCm38)	V341L	probably benign	Het
Yme1l1	A	G	2: 23,194,747 (GRCm38)	D619G	probably damaging	Het
Zfp597	G	A	16: 3,866,638 (GRCm38)	P85S	probably damaging	Het
Zscan20	A	G	4: 128,586,128 (GRCm38)	S857P	probably benign	Het

Other mutations in Prpf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01461:Prpf6	APN	2	181,631,511 (GRCm38)	missense	probably benign
IGL01729:Prpf6	APN	2	181,654,917 (GRCm38)	missense	probably damaging	1.00
IGL02077:Prpf6	APN	2	181,640,664 (GRCm38)	missense	probably damaging	1.00
IGL02187:Prpf6	APN	2	181,616,016 (GRCm38)	missense	probably damaging	1.00
IGL02452:Prpf6	APN	2	181,649,085 (GRCm38)	missense	probably benign	0.00
IGL02881:Prpf6	APN	2	181,632,071 (GRCm38)	missense	probably benign	0.21
IGL03220:Prpf6	APN	2	181,632,879 (GRCm38)	missense	probably damaging	1.00
IGL02837:Prpf6	UTSW	2	181,622,263 (GRCm38)	missense	probably damaging	1.00
R0069:Prpf6	UTSW	2	181,615,963 (GRCm38)	splice site	probably null
R0189:Prpf6	UTSW	2	181,655,457 (GRCm38)	missense	probably benign	0.00
R0479:Prpf6	UTSW	2	181,651,127 (GRCm38)	missense	probably benign	0.18
R0532:Prpf6	UTSW	2	181,622,211 (GRCm38)	missense	possibly damaging	0.71
R0628:Prpf6	UTSW	2	181,636,048 (GRCm38)	missense	probably damaging	0.96
R0674:Prpf6	UTSW	2	181,631,974 (GRCm38)	missense	probably benign	0.05
R1863:Prpf6	UTSW	2	181,608,174 (GRCm38)	missense	possibly damaging	0.81
R1954:Prpf6	UTSW	2	181,632,077 (GRCm38)	missense	probably benign
R1955:Prpf6	UTSW	2	181,632,077 (GRCm38)	missense	probably benign
R4612:Prpf6	UTSW	2	181,632,079 (GRCm38)	missense	possibly damaging	0.81
R4627:Prpf6	UTSW	2	181,601,474 (GRCm38)	missense	probably damaging	0.96
R5053:Prpf6	UTSW	2	181,649,453 (GRCm38)	missense	probably benign	0.00
R5121:Prpf6	UTSW	2	181,636,043 (GRCm38)	missense	probably benign
R5181:Prpf6	UTSW	2	181,649,546 (GRCm38)	missense	probably damaging	0.98
R5380:Prpf6	UTSW	2	181,608,266 (GRCm38)	missense	probably damaging	1.00
R5490:Prpf6	UTSW	2	181,608,165 (GRCm38)	missense	probably benign	0.01
R5638:Prpf6	UTSW	2	181,645,588 (GRCm38)	missense	probably benign	0.32
R5680:Prpf6	UTSW	2	181,649,140 (GRCm38)	missense	probably damaging	0.99
R6152:Prpf6	UTSW	2	181,621,787 (GRCm38)	missense	probably damaging	1.00
R6252:Prpf6	UTSW	2	181,647,363 (GRCm38)	missense	probably damaging	1.00
R6317:Prpf6	UTSW	2	181,631,436 (GRCm38)	missense	probably benign	0.06
R6501:Prpf6	UTSW	2	181,621,920 (GRCm38)	nonsense	probably null
R6789:Prpf6	UTSW	2	181,616,051 (GRCm38)	nonsense	probably null
R7023:Prpf6	UTSW	2	181,620,640 (GRCm38)	missense	probably damaging	1.00
R7043:Prpf6	UTSW	2	181,649,504 (GRCm38)	missense	probably benign
R7214:Prpf6	UTSW	2	181,640,596 (GRCm38)	missense	probably damaging	1.00
R7538:Prpf6	UTSW	2	181,652,455 (GRCm38)	missense	probably benign	0.16
R7696:Prpf6	UTSW	2	181,608,242 (GRCm38)	missense	possibly damaging	0.88
R8020:Prpf6	UTSW	2	181,645,570 (GRCm38)	missense	probably benign	0.05
R8345:Prpf6	UTSW	2	181,650,158 (GRCm38)	missense	probably benign
R8786:Prpf6	UTSW	2	181,620,622 (GRCm38)	missense	possibly damaging	0.77
R9151:Prpf6	UTSW	2	181,608,208 (GRCm38)	missense	possibly damaging	0.70
R9623:Prpf6	UTSW	2	181,647,344 (GRCm38)	missense	possibly damaging	0.62
RF016:Prpf6	UTSW	2	181,632,076 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGTAACCCGATGCATACCTG -3'
(R):5'- TGACCCTCATAAAAGCTGTCAC -3'

Sequencing Primer
(F):5'- GTAACCCGATGCATACCTGTTTGC -3'
(R):5'- GTCACCTATTATTGAGTCCACAGGAG -3'

Posted On

2016-06-06