Mutagenetix > Incidental Mutation

Incidental Mutation 'R9623:Prpf6'

724929

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9623 (G1)

Quality Score

213.009

Status

Not validated

Chromosome

Chromosomal Location

181243112-181297454 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 181289137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 609 (V609M)

Ref Sequence

ENSEMBL: ENSMUSP00000002529 (fasta)

Gene Model

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

AlphaFold

Q91YR7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002529
AA Change: V609M

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000002529
Gene: ENSMUSG00000002455
AA Change: V609M

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: V609M

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000121340
Gene: ENSMUSG00000002455
AA Change: V609M

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	A	T	7: 119,181,975 (GRCm39)	Y408F	probably benign	Het
Adamts9	G	T	6: 92,857,661 (GRCm39)	P876T	probably benign	Het
Afap1l2	T	A	19: 56,906,462 (GRCm39)	D479V	probably damaging	Het
Aire	T	C	10: 77,873,809 (GRCm39)	E300G	probably damaging	Het
Ampd3	A	G	7: 110,402,307 (GRCm39)	E428G	probably damaging	Het
Apaf1	A	T	10: 90,913,463 (GRCm39)	Y153*	probably null	Het
Arhgap10	T	C	8: 77,985,786 (GRCm39)	T694A	probably benign	Het
Arhgef39	A	G	4: 43,496,819 (GRCm39)		probably null	Het
Arhgef5	T	C	6: 43,251,736 (GRCm39)	V829A	possibly damaging	Het
Arrdc4	A	G	7: 68,390,741 (GRCm39)	M333T		Het
Boc	G	T	16: 44,322,018 (GRCm39)	R215S		Het
Capn2	G	A	1: 182,344,795 (GRCm39)	A42V	probably benign	Het
Ccdc136	T	A	6: 29,405,939 (GRCm39)	M95K	probably benign	Het
Ccdc183	A	T	2: 25,499,520 (GRCm39)	Y438N	probably benign	Het
Ccnf	C	A	17: 24,468,367 (GRCm39)	R10M	probably damaging	Het
Cd19	A	G	7: 126,011,284 (GRCm39)	F300S	probably damaging	Het
Cdkl3	G	T	11: 51,895,816 (GRCm39)	C21F	probably damaging	Het
Celf2	C	T	2: 6,620,522 (GRCm39)	R183Q	probably damaging	Het
Clca3a1	T	G	3: 144,719,698 (GRCm39)	D424A	probably benign	Het
Clec3a	A	G	8: 115,144,887 (GRCm39)	D21G	probably benign	Het
Clec4e	T	C	6: 123,263,306 (GRCm39)	N78S	probably benign	Het
Clpb	A	T	7: 101,313,399 (GRCm39)	S128C	possibly damaging	Het
Cntnap5a	T	A	1: 116,369,985 (GRCm39)	Y867*	probably null	Het
Dgkg	G	C	16: 22,385,194 (GRCm39)	N437K		Het
Dnhd1	A	G	7: 105,335,773 (GRCm39)	E1139G	probably damaging	Het
Dnhd1	G	A	7: 105,344,134 (GRCm39)	R1826H	probably damaging	Het
Etl4	A	G	2: 20,811,052 (GRCm39)	H1413R		Het
Fibp	T	A	19: 5,513,850 (GRCm39)	V271D	possibly damaging	Het
Gabra4	G	T	5: 71,791,023 (GRCm39)	T273K	probably damaging	Het
Gan	G	A	8: 117,914,219 (GRCm39)	D206N	probably damaging	Het
Gstz1	A	T	12: 87,206,923 (GRCm39)	I106F	probably damaging	Het
Hivep2	T	G	10: 14,006,546 (GRCm39)	L1048R	probably damaging	Het
Htr6	A	T	4: 138,801,750 (GRCm39)	M108K	probably damaging	Het
Hycc1	A	C	5: 24,170,255 (GRCm39)	S365A	probably benign	Het
Itgad	A	G	7: 127,803,723 (GRCm39)	E1134G	probably damaging	Het
Lrp1b	C	T	2: 41,366,648 (GRCm39)	G657S		Het
Lrp2	T	C	2: 69,307,423 (GRCm39)	I2879V	probably benign	Het
Lyst	G	T	13: 13,852,587 (GRCm39)	V2196L	probably benign	Het
Mettl5	T	A	2: 69,711,717 (GRCm39)	I50F	possibly damaging	Het
Mmadhc	A	G	2: 50,186,341 (GRCm39)		probably benign	Het
Msantd1	G	A	5: 35,075,076 (GRCm39)	W46*	probably null	Het
Mto1	T	C	9: 78,364,712 (GRCm39)	I317T	probably damaging	Het
Myef2	T	G	2: 124,957,377 (GRCm39)	D126A	probably damaging	Het
Net1	A	G	13: 3,937,569 (GRCm39)		probably null	Het
Nnmt	A	T	9: 48,503,660 (GRCm39)	M122K	probably benign	Het
Nos1	A	G	5: 118,087,849 (GRCm39)	K1371E	probably benign	Het
Nrcam	G	C	12: 44,636,931 (GRCm39)	W1121C	probably damaging	Het
Nt5c2	A	G	19: 46,877,409 (GRCm39)	S511P		Het
Or10w1	C	A	19: 13,632,414 (GRCm39)	A207E	probably damaging	Het
Or1j17	G	T	2: 36,578,778 (GRCm39)	V255F	probably benign	Het
Or2k2	T	C	4: 58,785,585 (GRCm39)	I46V	possibly damaging	Het
Or4a73	A	G	2: 89,421,261 (GRCm39)	F66S	probably benign	Het
P2rx7	A	G	5: 122,790,860 (GRCm39)	K66E	probably damaging	Het
Paqr4	A	G	17: 23,956,656 (GRCm39)	W236R	probably damaging	Het
Parm1	A	G	5: 91,760,923 (GRCm39)	Y265C	probably damaging	Het
Pcbp2	T	C	15: 102,392,628 (GRCm39)	Y178H	probably damaging	Het
Pidd1	G	A	7: 141,021,678 (GRCm39)	P261S	probably damaging	Het
Pik3r6	T	C	11: 68,442,159 (GRCm39)	V705A	possibly damaging	Het
Pla2g15	G	T	8: 106,887,275 (GRCm39)	V156F	possibly damaging	Het
Resf1	A	G	6: 149,226,965 (GRCm39)	N4D	possibly damaging	Het
Rprd2	A	G	3: 95,679,505 (GRCm39)	V491A	probably benign	Het
Rtp3	T	A	9: 110,818,600 (GRCm39)	H27L	probably damaging	Het
Sema5b	G	A	16: 35,443,121 (GRCm39)	R42Q	possibly damaging	Het
Serpina3f	A	G	12: 104,183,743 (GRCm39)	K202E	probably damaging	Het
Slc25a33	T	G	4: 149,833,767 (GRCm39)	M168L	probably benign	Het
Slc7a8	A	G	14: 54,964,341 (GRCm39)	C371R	probably damaging	Het
Smyd1	T	C	6: 71,192,808 (GRCm39)	N467S	probably benign	Het
Sptbn4	A	G	7: 27,107,807 (GRCm39)	W872R	probably damaging	Het
Syne1	A	T	10: 5,152,009 (GRCm39)	I5766N	probably damaging	Het
Syne2	A	G	12: 75,986,760 (GRCm39)	S1699G	probably benign	Het
Synpo2	T	C	3: 122,908,047 (GRCm39)	D423G	possibly damaging	Het
Tcf19	A	T	17: 35,825,792 (GRCm39)	F122I	probably damaging	Het
Tdpoz4	A	T	3: 93,704,221 (GRCm39)	T173S	probably benign	Het
Trappc8	T	A	18: 20,983,975 (GRCm39)	H681L	possibly damaging	Het
Trim36	A	G	18: 46,308,623 (GRCm39)	F413S	probably benign	Het
Tsks	A	G	7: 44,605,931 (GRCm39)	T466A	possibly damaging	Het
Ubr1	T	C	2: 120,764,820 (GRCm39)	I545V	probably benign	Het
Ubr4	A	G	4: 139,159,024 (GRCm39)	E1170G	probably benign	Het
Usp29	A	G	7: 6,964,396 (GRCm39)	R80G	possibly damaging	Het
Utrn	C	T	10: 12,282,225 (GRCm39)	R3258H	probably damaging	Het
Vmn1r13	T	G	6: 57,187,549 (GRCm39)	V236G	probably benign	Het
Vmn1r33	T	A	6: 66,589,002 (GRCm39)	D184V	probably damaging	Het
Vmn2r87	T	C	10: 130,315,794 (GRCm39)	N91D	probably damaging	Het
Wrn	A	G	8: 33,774,644 (GRCm39)		probably null	Het
Zan	G	A	5: 137,461,636 (GRCm39)	P1181L	unknown	Het
Zbtb47	C	A	9: 121,591,990 (GRCm39)	Y103*	probably null	Het
Zfc3h1	C	A	10: 115,259,362 (GRCm39)	L1645I	possibly damaging	Het
Zfhx2	G	T	14: 55,302,191 (GRCm39)	P1931Q	probably damaging	Het
Zfp352	A	G	4: 90,113,128 (GRCm39)	K423E	probably benign	Het
Zfp574	T	A	7: 24,780,515 (GRCm39)	H512Q		Het
Zfp7	G	A	15: 76,774,531 (GRCm39)	R191H	probably benign	Het
Zfp771	A	T	7: 126,844,301 (GRCm39)	K46*	probably null	Het
Zkscan8	T	C	13: 21,704,763 (GRCm39)	E392G	probably damaging	Het

Other mutations in Prpf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01461:Prpf6	APN	2	181,273,304 (GRCm39)	missense	probably benign
IGL01729:Prpf6	APN	2	181,296,710 (GRCm39)	missense	probably damaging	1.00
IGL02077:Prpf6	APN	2	181,282,457 (GRCm39)	missense	probably damaging	1.00
IGL02187:Prpf6	APN	2	181,257,809 (GRCm39)	missense	probably damaging	1.00
IGL02452:Prpf6	APN	2	181,290,878 (GRCm39)	missense	probably benign	0.00
IGL02881:Prpf6	APN	2	181,273,864 (GRCm39)	missense	probably benign	0.21
IGL03220:Prpf6	APN	2	181,274,672 (GRCm39)	missense	probably damaging	1.00
IGL02837:Prpf6	UTSW	2	181,264,056 (GRCm39)	missense	probably damaging	1.00
R0069:Prpf6	UTSW	2	181,257,756 (GRCm39)	splice site	probably null
R0189:Prpf6	UTSW	2	181,297,250 (GRCm39)	missense	probably benign	0.00
R0479:Prpf6	UTSW	2	181,292,920 (GRCm39)	missense	probably benign	0.18
R0532:Prpf6	UTSW	2	181,264,004 (GRCm39)	missense	possibly damaging	0.71
R0628:Prpf6	UTSW	2	181,277,841 (GRCm39)	missense	probably damaging	0.96
R0674:Prpf6	UTSW	2	181,273,767 (GRCm39)	missense	probably benign	0.05
R1863:Prpf6	UTSW	2	181,249,967 (GRCm39)	missense	possibly damaging	0.81
R1954:Prpf6	UTSW	2	181,273,870 (GRCm39)	missense	probably benign
R1955:Prpf6	UTSW	2	181,273,870 (GRCm39)	missense	probably benign
R4612:Prpf6	UTSW	2	181,273,872 (GRCm39)	missense	possibly damaging	0.81
R4627:Prpf6	UTSW	2	181,243,267 (GRCm39)	missense	probably damaging	0.96
R5033:Prpf6	UTSW	2	181,291,899 (GRCm39)	missense	possibly damaging	0.69
R5053:Prpf6	UTSW	2	181,291,246 (GRCm39)	missense	probably benign	0.00
R5121:Prpf6	UTSW	2	181,277,836 (GRCm39)	missense	probably benign
R5181:Prpf6	UTSW	2	181,291,339 (GRCm39)	missense	probably damaging	0.98
R5380:Prpf6	UTSW	2	181,250,059 (GRCm39)	missense	probably damaging	1.00
R5490:Prpf6	UTSW	2	181,249,958 (GRCm39)	missense	probably benign	0.01
R5638:Prpf6	UTSW	2	181,287,381 (GRCm39)	missense	probably benign	0.32
R5680:Prpf6	UTSW	2	181,290,933 (GRCm39)	missense	probably damaging	0.99
R6152:Prpf6	UTSW	2	181,263,580 (GRCm39)	missense	probably damaging	1.00
R6252:Prpf6	UTSW	2	181,289,156 (GRCm39)	missense	probably damaging	1.00
R6317:Prpf6	UTSW	2	181,273,229 (GRCm39)	missense	probably benign	0.06
R6501:Prpf6	UTSW	2	181,263,713 (GRCm39)	nonsense	probably null
R6789:Prpf6	UTSW	2	181,257,844 (GRCm39)	nonsense	probably null
R7023:Prpf6	UTSW	2	181,262,433 (GRCm39)	missense	probably damaging	1.00
R7043:Prpf6	UTSW	2	181,291,297 (GRCm39)	missense	probably benign
R7214:Prpf6	UTSW	2	181,282,389 (GRCm39)	missense	probably damaging	1.00
R7538:Prpf6	UTSW	2	181,294,248 (GRCm39)	missense	probably benign	0.16
R7696:Prpf6	UTSW	2	181,250,035 (GRCm39)	missense	possibly damaging	0.88
R8020:Prpf6	UTSW	2	181,287,363 (GRCm39)	missense	probably benign	0.05
R8345:Prpf6	UTSW	2	181,291,951 (GRCm39)	missense	probably benign
R8786:Prpf6	UTSW	2	181,262,415 (GRCm39)	missense	possibly damaging	0.77
R9151:Prpf6	UTSW	2	181,250,001 (GRCm39)	missense	possibly damaging	0.70
RF016:Prpf6	UTSW	2	181,273,869 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACACTCTCCCCATCGTAAAATCTTG -3'
(R):5'- TGTCTCTAGACTAGACCATGGC -3'

Sequencing Primer
(F):5'- CTCCCCATCGTAAAATCTTGTAAATC -3'
(R):5'- GTCTCTAGACTAGACCATGGCATATC -3'

Posted On

2022-09-12