Mutagenetix > Incidental Mutation

Incidental Mutation 'R6880:Prpf4b'

536627

Institutional Source

Beutler Lab

Gene Symbol

Prpf4b

Ensembl Gene

ENSMUSG00000021413

Gene Name

pre-mRNA processing factor 4B

Synonyms

Prp4, Prp4k, Prpk

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6880 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34875302-34906064 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34894453 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 682 (V682A)

Ref Sequence

ENSEMBL: ENSMUSP00000152654 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077853] [ENSMUST00000222509]

AlphaFold

Q61136

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077853
AA Change: V682A

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000077019
Gene: ENSMUSG00000021413
AA Change: V682A

Domain	Start	End	E-Value	Type
low complexity region	40	62	N/A	INTRINSIC
low complexity region	68	80	N/A	INTRINSIC
coiled coil region	102	123	N/A	INTRINSIC
low complexity region	142	150	N/A	INTRINSIC
low complexity region	156	170	N/A	INTRINSIC
low complexity region	178	197	N/A	INTRINSIC
low complexity region	210	233	N/A	INTRINSIC
low complexity region	238	249	N/A	INTRINSIC
low complexity region	284	294	N/A	INTRINSIC
low complexity region	299	324	N/A	INTRINSIC
low complexity region	340	360	N/A	INTRINSIC
low complexity region	390	417	N/A	INTRINSIC
low complexity region	435	497	N/A	INTRINSIC
low complexity region	521	535	N/A	INTRINSIC
low complexity region	562	581	N/A	INTRINSIC
S_TKc	687	1003	4.99e-74	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000221077

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222509
AA Change: V682A

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

97% (62/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pre-mRNA splicing occurs in two sequential transesterification steps, and the protein encoded by this gene is thought to be involved in pre-mRNA splicing and in signal transduction. This protein belongs to a kinase family that includes serine/arginine-rich protein-specific kinases and cyclin-dependent kinases (CDKs). This protein is regarded as a CDK-like kinase (Clk) with homology to mitogen-activated protein kinases (MAPKs). [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	A	3: 36,069,705		probably null	Het
Aff3	T	C	1: 38,535,162	H206R	probably damaging	Het
Aff3	T	C	1: 38,627,128	D5G	possibly damaging	Het
Alg5	A	G	3: 54,738,843	E43G	probably damaging	Het
Ankrd36	T	C	11: 5,628,748	L4P	probably damaging	Het
Ano1	T	C	7: 144,644,742	Y345C	probably benign	Het
Atf7ip	A	G	6: 136,561,040	I432V	probably damaging	Het
B230307C23Rik	T	C	16: 97,997,427		probably benign	Het
Baz2b	T	A	2: 59,912,939	N1563Y	probably damaging	Het
Bhlha15	A	T	5: 144,191,633	T188S	probably damaging	Het
Cbr3	T	C	16: 93,690,538	V203A	probably benign	Het
Cpsf1	T	C	15: 76,602,539	T266A	probably benign	Het
Dnah7c	T	C	1: 46,527,671	Y681H	probably damaging	Het
Dock2	C	T	11: 34,688,452		probably null	Het
Dsc1	T	A	18: 20,088,372	D682V	probably damaging	Het
Fkbp15	A	T	4: 62,336,495	I256N	possibly damaging	Het
Foxd1	A	C	13: 98,354,717	D33A	unknown	Het
Gid4	T	A	11: 60,436,435	F149I	probably damaging	Het
Hmcn2	G	T	2: 31,343,056	V206L	probably damaging	Het
Ighg2b	T	C	12: 113,307,106	I135V		Het
Ighv1-24	T	C	12: 114,773,043	Y79C	possibly damaging	Het
Impg1	T	A	9: 80,404,800	D167V	probably damaging	Het
Jakmip1	T	C	5: 37,105,623	S372P	possibly damaging	Het
Kcnb1	T	C	2: 167,105,807	T374A	probably damaging	Het
Lrrn4	A	G	2: 132,872,112	S305P	probably damaging	Het
Ltbp1	C	T	17: 75,321,049	T1179I	possibly damaging	Het
Mab21l2	A	G	3: 86,547,156	I179T	possibly damaging	Het
Myo5b	A	T	18: 74,722,430	H1230L	probably benign	Het
Myocos	T	C	1: 162,657,033		probably null	Het
Nipa2	T	C	7: 55,933,251	T249A	probably damaging	Het
Oas1a	C	A	5: 120,901,940	R196L	probably damaging	Het
Olfr228	A	G	2: 86,483,725	F6L	probably benign	Het
Olfr235	A	G	19: 12,268,610	I127V	probably benign	Het
Olfr700	A	T	7: 106,805,812	S217T	probably damaging	Het
Phxr2	G	A	10: 99,126,084		probably benign	Het
Pigq	A	G	17: 25,934,828	L85P	probably damaging	Het
Pla2g4a	T	A	1: 149,851,451	D518V	possibly damaging	Het
Pm20d1	A	G	1: 131,804,101	K294E	probably benign	Het
Polr3d	C	A	14: 70,440,015	R307L	probably benign	Het
Pou5f2	T	C	13: 78,025,494	L185P	possibly damaging	Het
Prex2	A	T	1: 11,132,384	N506Y	probably damaging	Het
Proser1	T	A	3: 53,477,839	S381T	probably benign	Het
Prr14l	A	T	5: 32,830,867	L428Q	probably benign	Het
Prss23	A	G	7: 89,510,825	V12A	probably benign	Het
Qk	T	C	17: 10,215,447	D321G	probably benign	Het
Rab11fip5	A	G	6: 85,348,845	L193P	probably damaging	Het
Retreg1	T	G	15: 25,971,739	L245R	probably damaging	Het
Rfc1	T	C	5: 65,277,386	N679S	probably benign	Het
Rpl4	C	T	9: 64,177,053	A220V	probably damaging	Het
Rxra	G	A	2: 27,748,656	E224K	possibly damaging	Het
Slc26a7	A	G	4: 14,516,159	C557R	possibly damaging	Het
Sncaip	A	G	18: 52,869,064	K219R	probably damaging	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Sphkap	A	G	1: 83,257,257	V1616A	probably damaging	Het
Sulf1	T	C	1: 12,842,755	C738R	probably damaging	Het
Suz12	T	A	11: 80,002,172	C38*	probably null	Het
Ttn	T	C	2: 76,720,498	T23190A	probably damaging	Het
Twnk	A	G	19: 45,007,416	D96G	probably benign	Het
Vcan	T	A	13: 89,712,381	N289I	probably damaging	Het
Vmn2r120	A	T	17: 57,509,187	S723T	probably damaging	Het
Vmn2r97	A	T	17: 18,914,508	I63F	probably benign	Het
Washc5	T	C	15: 59,350,172	N125S	probably benign	Het
Zfp865	A	G	7: 5,030,549	Y511C	probably damaging	Het

Other mutations in Prpf4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Prpf4b	APN	13	34883907	missense	probably benign	0.23
IGL00639:Prpf4b	APN	13	34899173	missense	possibly damaging	0.70
IGL00901:Prpf4b	APN	13	34894482	missense	probably damaging	1.00
IGL01301:Prpf4b	APN	13	34884291	missense	probably benign	0.23
IGL02027:Prpf4b	APN	13	34889571	missense	probably benign	0.35
IGL02111:Prpf4b	APN	13	34883961	missense	probably benign	0.23
IGL02256:Prpf4b	APN	13	34899878	missense	probably damaging	0.98
IGL02590:Prpf4b	APN	13	34888146	unclassified	probably benign
IGL03389:Prpf4b	APN	13	34900456	splice site	probably benign
IGL03411:Prpf4b	APN	13	34895359	missense	probably damaging	1.00
ANU18:Prpf4b	UTSW	13	34884291	missense	probably benign	0.23
PIT4260001:Prpf4b	UTSW	13	34884291	missense	probably benign	0.23
PIT4696001:Prpf4b	UTSW	13	34899842	missense	probably benign	0.01
R0114:Prpf4b	UTSW	13	34890488	splice site	probably benign
R0157:Prpf4b	UTSW	13	34884031	unclassified	probably benign
R1551:Prpf4b	UTSW	13	34894443	missense	possibly damaging	0.91
R1587:Prpf4b	UTSW	13	34892150	missense	probably benign	0.09
R2105:Prpf4b	UTSW	13	34884231	unclassified	probably benign
R2152:Prpf4b	UTSW	13	34900419	missense	probably benign	0.04
R2432:Prpf4b	UTSW	13	34883341	unclassified	probably benign
R3802:Prpf4b	UTSW	13	34883682	unclassified	probably benign
R3803:Prpf4b	UTSW	13	34883682	unclassified	probably benign
R3804:Prpf4b	UTSW	13	34883682	unclassified	probably benign
R3982:Prpf4b	UTSW	13	34884213	unclassified	probably benign
R4603:Prpf4b	UTSW	13	34888164	unclassified	probably benign
R4633:Prpf4b	UTSW	13	34900442	missense	probably damaging	1.00
R4649:Prpf4b	UTSW	13	34899971	missense	probably benign	0.06
R4651:Prpf4b	UTSW	13	34899971	missense	probably benign	0.06
R4653:Prpf4b	UTSW	13	34899971	missense	probably benign	0.06
R5022:Prpf4b	UTSW	13	34883599	unclassified	probably benign
R5028:Prpf4b	UTSW	13	34899975	missense	probably damaging	1.00
R5232:Prpf4b	UTSW	13	34883590	unclassified	probably benign
R5313:Prpf4b	UTSW	13	34894549	missense	probably damaging	1.00
R5440:Prpf4b	UTSW	13	34884093	unclassified	probably benign
R5511:Prpf4b	UTSW	13	34884054	unclassified	probably benign
R5863:Prpf4b	UTSW	13	34899128	missense	possibly damaging	0.51
R5981:Prpf4b	UTSW	13	34886710	missense	probably benign	0.23
R6360:Prpf4b	UTSW	13	34901433	missense	probably damaging	0.99
R6398:Prpf4b	UTSW	13	34900371	missense	probably damaging	1.00
R6556:Prpf4b	UTSW	13	34896032	missense	probably damaging	0.98
R7133:Prpf4b	UTSW	13	34901494	missense	probably benign	0.02
R7148:Prpf4b	UTSW	13	34894472	missense	probably benign	0.04
R7208:Prpf4b	UTSW	13	34884011	missense	unknown
R7966:Prpf4b	UTSW	13	34901445	missense	probably damaging	0.96
R8241:Prpf4b	UTSW	13	34895991	missense	probably damaging	1.00
R8298:Prpf4b	UTSW	13	34888183	missense	unknown
R9609:Prpf4b	UTSW	13	34884049	missense	unknown
R9710:Prpf4b	UTSW	13	34899887	missense	probably damaging	1.00
RF002:Prpf4b	UTSW	13	34884236	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCTGAGATGACCATTGGAGGC -3'
(R):5'- GGGTAGGTACTGAAATGACTTTGAC -3'

Sequencing Primer
(F):5'- CGGTGCCTGGATTCCATCATG -3'
(R):5'- ACCCATGGCTCTAAATTTAAAATCC -3'

Posted On

2018-10-18