Mutagenetix > Incidental Mutation

Incidental Mutation 'R9611:Prpf3'

724204

Institutional Source

Beutler Lab

Gene Symbol

Prpf3

Ensembl Gene

ENSMUSG00000015748

Gene Name

pre-mRNA processing factor 3

Synonyms

3632413F13Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9611 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95737436-95763197 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 95758931 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 74 (R74*)

Ref Sequence

ENSEMBL: ENSMUSP00000015892 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015892] [ENSMUST00000160109] [ENSMUST00000161476]

AlphaFold

Q922U1

Predicted Effect

probably null
Transcript: ENSMUST00000015892
AA Change: R74*

SMART Domains

Protein: ENSMUSP00000015892
Gene: ENSMUSG00000015748
AA Change: R74*

Domain	Start	End	E-Value	Type
PWI	3	76	5.99e-29	SMART
low complexity region	112	135	N/A	INTRINSIC
Pfam:PRP3	308	521	1.3e-82	PFAM
low complexity region	526	534	N/A	INTRINSIC
Pfam:DUF1115	544	673	1.1e-51	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000160109
AA Change: R74*

SMART Domains

Protein: ENSMUSP00000124302
Gene: ENSMUSG00000015748
AA Change: R74*

Domain	Start	End	E-Value	Type
PWI	3	76	5.99e-29	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000161476
AA Change: R74*

SMART Domains

Protein: ENSMUSP00000124950
Gene: ENSMUSG00000015748
AA Change: R74*

Domain	Start	End	E-Value	Type
PWI	3	76	5.99e-29	SMART
low complexity region	112	135	N/A	INTRINSIC
Pfam:PRP3	307	522	5.4e-74	PFAM
low complexity region	526	534	N/A	INTRINSIC
Pfam:DUF1115	543	674	3.2e-45	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The removal of introns from nuclear pre-mRNAs occurs on complexes called spliceosomes, which are made up of 4 small nuclear ribonucleoprotein (snRNP) particles and an undefined number of transiently associated splicing factors. This gene product is one of several proteins that associate with U4 and U6 snRNPs. Mutations in this gene are associated with retinitis pigmentosa-18. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	T	18: 59,023,399 (GRCm39)	T265S	probably benign	Het
Ahnak	T	A	19: 8,989,162 (GRCm39)	L3482Q	probably damaging	Het
Arhgef5	A	G	6: 43,257,890 (GRCm39)	I1311M	probably damaging	Het
Bcr	T	A	10: 74,990,743 (GRCm39)	Y750N	probably damaging	Het
Bcr	T	A	10: 74,990,745 (GRCm39)	Y750*	probably null	Het
Btbd16	T	A	7: 130,407,595 (GRCm39)	M295K	probably benign	Het
Ccdc88a	T	C	11: 29,427,316 (GRCm39)	L1007P	possibly damaging	Het
Cnep1r1	A	G	8: 88,860,457 (GRCm39)	*126W	probably null	Het
Cntnap5b	C	A	1: 99,894,935 (GRCm39)	P69Q	probably damaging	Het
Coa8	T	G	12: 111,700,108 (GRCm39)	Y163D	probably damaging	Het
Col4a3	A	G	1: 82,678,018 (GRCm39)	M1207V	unknown	Het
Colgalt2	T	A	1: 152,360,745 (GRCm39)	W261R	probably damaging	Het
Cstf1	T	A	2: 172,214,984 (GRCm39)	I35N	probably benign	Het
Cstpp1	T	C	2: 91,135,127 (GRCm39)	D111G	probably damaging	Het
Cul9	A	G	17: 46,830,823 (GRCm39)	L1690P	possibly damaging	Het
Dscaml1	C	A	9: 45,579,522 (GRCm39)	N356K	possibly damaging	Het
Ecm2	A	G	13: 49,668,518 (GRCm39)	N74D	probably benign	Het
Ecm2	A	G	13: 49,681,216 (GRCm39)	I450M	probably damaging	Het
Emc1	T	A	4: 139,091,035 (GRCm39)	D460E	probably benign	Het
Fhip2b	T	C	14: 70,824,258 (GRCm39)	Y493C	probably benign	Het
Fmo5	C	T	3: 97,549,089 (GRCm39)	R246C	possibly damaging	Het
Fyco1	T	C	9: 123,657,585 (GRCm39)	T864A	possibly damaging	Het
Galk2	T	C	2: 125,817,218 (GRCm39)	Y336H	probably damaging	Het
Gcsh	T	A	8: 117,720,125 (GRCm39)	Y14F	probably benign	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Gucy2g	T	C	19: 55,194,605 (GRCm39)	I937M	probably damaging	Het
Hsp90ab1	T	C	17: 45,880,600 (GRCm39)	I370M	possibly damaging	Het
Hypk	T	C	2: 121,288,154 (GRCm39)	S72P	probably damaging	Het
Ighv1-26	T	C	12: 114,752,206 (GRCm39)	Y46C	probably damaging	Het
Kctd13	G	T	7: 126,544,180 (GRCm39)	G293C	probably damaging	Het
Kmt2d	CTGCTGTTGCTG	CTGCTG	15: 98,743,054 (GRCm39)		probably benign	Het
Kmt2d	CTGTTG	CTG	15: 98,743,057 (GRCm39)		probably benign	Het
Krt13	T	C	11: 100,012,318 (GRCm39)	S2G	probably benign	Het
Mark4	C	A	7: 19,167,338 (GRCm39)	R467L	possibly damaging	Het
Mrps33	T	A	6: 39,779,422 (GRCm39)	K91M	probably damaging	Het
Or51f1	T	G	7: 102,506,147 (GRCm39)	H114P	probably damaging	Het
Or5ac25	A	C	16: 59,182,242 (GRCm39)	I113S	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Phldb3	G	A	7: 24,328,372 (GRCm39)	V639M	probably damaging	Het
Pigyl	A	T	9: 22,069,499 (GRCm39)	H70L	probably damaging	Het
Pip4k2c	A	C	10: 127,036,069 (GRCm39)	L266R	probably damaging	Het
Plg	T	C	17: 12,609,213 (GRCm39)	Y173H	probably benign	Het
Pmp22	G	T	11: 63,024,065 (GRCm39)	V25F	probably benign	Het
Pot1b	T	A	17: 56,006,995 (GRCm39)	T41S	probably benign	Het
Ppp1r16b	T	A	2: 158,537,998 (GRCm39)	Y40N	probably damaging	Het
Prl5a1	A	G	13: 28,329,492 (GRCm39)	E57G	possibly damaging	Het
Psmb10	A	G	8: 106,664,144 (GRCm39)	F75S	probably benign	Het
Ptprm	C	A	17: 67,000,483 (GRCm39)	R1167M	probably damaging	Het
Rmnd5b	T	C	11: 51,517,869 (GRCm39)	I162V	probably damaging	Het
Sik1	T	A	17: 32,073,246 (GRCm39)	K70M	probably damaging	Het
Slc44a4	C	T	17: 35,147,793 (GRCm39)	S611F	probably benign	Het
St18	T	C	1: 6,873,147 (GRCm39)	V294A	probably benign	Het
Stk32a	A	G	18: 43,430,620 (GRCm39)	I177V	probably benign	Het
Syne2	T	C	12: 76,080,460 (GRCm39)	F58S	probably benign	Het
Tcf7l2	A	G	19: 55,899,038 (GRCm39)	D215G	probably null	Het
Tcirg1	A	T	19: 3,953,400 (GRCm39)	F149Y	probably benign	Het
Tex14	T	A	11: 87,377,084 (GRCm39)	F143I	probably damaging	Het
Tjp3	A	G	10: 81,119,411 (GRCm39)	V26A	possibly damaging	Het
Tnfaip8	ACACACTCTC	AC	18: 50,179,908 (GRCm39)		probably benign	Het
Tpx2	T	A	2: 152,715,124 (GRCm39)	V115D	probably benign	Het
Tubb2b	C	A	13: 34,311,742 (GRCm39)	K350N	probably damaging	Het
Vps13b	G	T	15: 35,642,555 (GRCm39)	G1389V	possibly damaging	Het
Vps39	T	C	2: 120,172,485 (GRCm39)	R183G	probably damaging	Het
Wdr47	A	T	3: 108,518,729 (GRCm39)	E72D	probably damaging	Het
Wnk4	G	T	11: 101,159,250 (GRCm39)	E556*	probably null	Het
Xpo7	T	A	14: 70,925,617 (GRCm39)	E474V	probably benign	Het
Zfat	A	G	15: 68,051,655 (GRCm39)	V713A	possibly damaging	Het
Zfp189	G	T	4: 49,530,058 (GRCm39)	C387F	probably damaging	Het
Zmiz1	T	C	14: 25,651,022 (GRCm39)	V502A	probably benign	Het

Other mutations in Prpf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02175:Prpf3	APN	3	95,741,419 (GRCm39)	missense	probably damaging	0.99
IGL02825:Prpf3	APN	3	95,760,792 (GRCm39)	missense	probably damaging	1.00
R0940:Prpf3	UTSW	3	95,751,535 (GRCm39)	missense	probably damaging	1.00
R1542:Prpf3	UTSW	3	95,743,782 (GRCm39)	missense	probably benign	0.08
R1545:Prpf3	UTSW	3	95,755,115 (GRCm39)	missense	probably damaging	0.99
R2063:Prpf3	UTSW	3	95,751,551 (GRCm39)	missense	probably benign
R2084:Prpf3	UTSW	3	95,756,301 (GRCm39)	missense	probably benign	0.44
R2160:Prpf3	UTSW	3	95,752,542 (GRCm39)	missense	probably benign	0.19
R3110:Prpf3	UTSW	3	95,757,112 (GRCm39)	intron	probably benign
R3112:Prpf3	UTSW	3	95,757,112 (GRCm39)	intron	probably benign
R4636:Prpf3	UTSW	3	95,741,482 (GRCm39)	missense	probably damaging	0.99
R4671:Prpf3	UTSW	3	95,758,976 (GRCm39)	missense	possibly damaging	0.76
R4689:Prpf3	UTSW	3	95,743,801 (GRCm39)	nonsense	probably null
R4702:Prpf3	UTSW	3	95,741,404 (GRCm39)	missense	probably damaging	0.97
R5080:Prpf3	UTSW	3	95,741,109 (GRCm39)	missense	probably benign	0.45
R5177:Prpf3	UTSW	3	95,757,036 (GRCm39)	intron	probably benign
R5290:Prpf3	UTSW	3	95,760,857 (GRCm39)	missense	probably benign	0.39
R5397:Prpf3	UTSW	3	95,760,891 (GRCm39)	missense	probably benign	0.09
R6329:Prpf3	UTSW	3	95,739,890 (GRCm39)	missense	probably damaging	1.00
R7133:Prpf3	UTSW	3	95,741,052 (GRCm39)	splice site	probably null
R8433:Prpf3	UTSW	3	95,758,963 (GRCm39)	missense	probably damaging	1.00
R8725:Prpf3	UTSW	3	95,748,021 (GRCm39)	missense	possibly damaging	0.48
R9566:Prpf3	UTSW	3	95,760,800 (GRCm39)	missense	probably damaging	1.00
R9613:Prpf3	UTSW	3	95,758,931 (GRCm39)	nonsense	probably null
R9733:Prpf3	UTSW	3	95,741,512 (GRCm39)	missense	possibly damaging	0.77
X0063:Prpf3	UTSW	3	95,748,027 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACTTTAATTCTAAGATTCCCTCTACGT -3'
(R):5'- AGTATATCAGAAACTGGGAATTCTGC -3'

Sequencing Primer
(F):5'- GCCGGGCAATCACTCTATTAATGAG -3'
(R):5'- AAGGTCCAGTGTTCAAGTCC -3'

Posted On

2022-09-12