Mutagenetix > Incidental Mutation

Incidental Mutation 'R7750:Rprd1a'

597186

Institutional Source

Beutler Lab

Gene Symbol

Rprd1a

Ensembl Gene

ENSMUSG00000040446

Gene Name

regulation of nuclear pre-mRNA domain containing 1A

Synonyms

MMRRC Submission

045806-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7750 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24618017-24663261 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 24641311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 102 (K102*)

Ref Sequence

ENSEMBL: ENSMUSP00000043618 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046206]

AlphaFold

Q8VDS4

Predicted Effect

probably null
Transcript: ENSMUST00000046206
AA Change: K102*

SMART Domains

Protein: ENSMUSP00000043618
Gene: ENSMUSG00000040446
AA Change: K102*

Domain	Start	End	E-Value	Type
RPR	8	130	1.89e-46	SMART
Pfam:CREPT	164	310	1.1e-59	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (56/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cell-cycle and transcription regulatory protein. The encoded protein interacts with the cell cycle inhibitor cyclin-dependent kinase 4 inhibitor B and may function as a negative regulator of G(1)/S phase progression. This protein also forms homo- and hetrodimers with the protein, regulation of nuclear pre-mRNA domain-containing protein 1B, to form a scaffold that interacts with the C-terminal domain of RNA polymerase II subunit B1 and regulates several aspects of transcription. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 16. [provided by RefSeq, Dec 2014]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,075,199 (GRCm39)	D816V	possibly damaging	Het
Abca16	A	T	7: 120,113,928 (GRCm39)	N933I	probably benign	Het
Acly	A	T	11: 100,368,839 (GRCm39)		probably null	Het
Acox1	C	T	11: 116,074,406 (GRCm39)	G105D	possibly damaging	Het
Ankrd24	A	G	10: 81,482,628 (GRCm39)	E939G	possibly damaging	Het
Bard1	T	A	1: 71,106,101 (GRCm39)		probably null	Het
Brd4	G	T	17: 32,432,521 (GRCm39)	N579K	unknown	Het
C1qc	T	C	4: 136,617,592 (GRCm39)	Y168C	probably damaging	Het
Casp6	A	G	3: 129,705,858 (GRCm39)	D175G	probably damaging	Het
Ccdc83	A	T	7: 89,873,190 (GRCm39)	Y388*	probably null	Het
Clasrp	A	T	7: 19,318,516 (GRCm39)	*628R	probably null	Het
Cox4i1	A	G	8: 121,400,049 (GRCm39)	I111V	probably benign	Het
Cpvl	T	A	6: 53,903,886 (GRCm39)	D293V	probably damaging	Het
Epb41l4b	C	T	4: 57,076,913 (GRCm39)		probably null	Het
Frem2	C	A	3: 53,431,103 (GRCm39)	L2743F	possibly damaging	Het
Frmd4a	A	T	2: 4,606,160 (GRCm39)	H628L	probably benign	Het
Fyb1	A	G	15: 6,690,184 (GRCm39)	D809G	probably damaging	Het
Gm19410	T	A	8: 36,274,652 (GRCm39)	M1491K	possibly damaging	Het
Gm3604	G	A	13: 62,517,810 (GRCm39)	H183Y	possibly damaging	Het
H1f7	A	G	15: 98,154,565 (GRCm39)	S195P	unknown	Het
Lama2	T	C	10: 26,866,920 (GRCm39)	Y2858C	probably damaging	Het
Methig1	T	C	15: 100,251,412 (GRCm39)	F108L	probably benign	Het
Mfsd4b5	A	G	10: 39,846,251 (GRCm39)	V443A	probably damaging	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Myh9	C	T	15: 77,667,610 (GRCm39)	V608I	probably benign	Het
Myo1g	T	C	11: 6,464,849 (GRCm39)	D475G	probably damaging	Het
Neb	A	C	2: 52,170,728 (GRCm39)		probably null	Het
Nlrp1b	T	A	11: 71,059,665 (GRCm39)	I769F	probably benign	Het
Nol8	G	T	13: 49,815,742 (GRCm39)	V617F	possibly damaging	Het
Or2d2b	A	T	7: 106,705,740 (GRCm39)	C109*	probably null	Het
Pik3r2	A	G	8: 71,223,545 (GRCm39)	F346S	probably damaging	Het
Pou3f3	T	A	1: 42,737,308 (GRCm39)	F335I	probably damaging	Het
Ppp1r3e	T	C	14: 55,114,084 (GRCm39)	D196G	probably damaging	Het
Prpf40a	T	C	2: 53,041,757 (GRCm39)	T545A	probably damaging	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Sim1	A	G	10: 50,772,131 (GRCm39)	T47A	possibly damaging	Het
Slc45a1	C	T	4: 150,728,498 (GRCm39)	A102T	probably damaging	Het
Slc6a11	C	T	6: 114,207,098 (GRCm39)	P361S	possibly damaging	Het
Slc9b2	T	C	3: 135,031,998 (GRCm39)	F286S	probably damaging	Het
Slco4a1	T	C	2: 180,113,030 (GRCm39)	S421P	probably benign	Het
Snap91	A	C	9: 86,680,762 (GRCm39)		probably null	Het
Sppl2a	A	G	2: 126,761,625 (GRCm39)	L293P	probably damaging	Het
Sval3	T	A	6: 41,949,360 (GRCm39)	I66K	possibly damaging	Het
Synj2bp	T	C	12: 81,551,311 (GRCm39)	I85V	probably benign	Het
Thop1	G	T	10: 80,916,025 (GRCm39)	A403S	probably benign	Het
Timd4	T	A	11: 46,706,354 (GRCm39)	M52K	probably damaging	Het
Tmco5b	A	G	2: 113,118,609 (GRCm39)	N111D	probably damaging	Het
Trip10	G	A	17: 57,568,667 (GRCm39)	V419I	possibly damaging	Het
Trpv3	T	C	11: 73,176,847 (GRCm39)	Y409H	probably damaging	Het
Tulp4	A	G	17: 6,283,399 (GRCm39)	T1143A	probably damaging	Het
Ugt2b5	A	T	5: 87,288,108 (GRCm39)	S20T	probably benign	Het
Unc5b	A	G	10: 60,610,823 (GRCm39)	F406L	probably benign	Het
Usf3	A	G	16: 44,040,884 (GRCm39)	E1788G	probably benign	Het
Usp45	A	G	4: 21,780,430 (GRCm39)	D27G	probably damaging	Het
Vmn2r100	G	A	17: 19,742,726 (GRCm39)	V367I	probably benign	Het
Vmn2r49	T	A	7: 9,710,185 (GRCm39)	K849I	probably damaging	Het
Zfp119b	A	T	17: 56,245,682 (GRCm39)	H501Q	probably damaging	Het
Zfp462	C	A	4: 55,016,958 (GRCm39)	H893N	probably benign	Het
Zkscan4	A	G	13: 21,663,525 (GRCm39)	E88G	probably damaging	Het

Other mutations in Rprd1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0349:Rprd1a	UTSW	18	24,639,904 (GRCm39)	missense	possibly damaging	0.95
R0570:Rprd1a	UTSW	18	24,642,952 (GRCm39)	missense	probably damaging	1.00
R2441:Rprd1a	UTSW	18	24,640,257 (GRCm39)	nonsense	probably null
R2990:Rprd1a	UTSW	18	24,639,896 (GRCm39)	missense	probably damaging	1.00
R4260:Rprd1a	UTSW	18	24,621,352 (GRCm39)	missense	possibly damaging	0.57
R4563:Rprd1a	UTSW	18	24,640,160 (GRCm39)	critical splice donor site	probably null
R5215:Rprd1a	UTSW	18	24,621,257 (GRCm39)	missense	probably damaging	1.00
R5433:Rprd1a	UTSW	18	24,640,288 (GRCm39)	missense	probably benign	0.13
R6585:Rprd1a	UTSW	18	24,639,720 (GRCm39)	splice site	probably null
R7485:Rprd1a	UTSW	18	24,639,889 (GRCm39)	critical splice donor site	probably null
R8801:Rprd1a	UTSW	18	24,641,280 (GRCm39)	missense	probably benign	0.44
R8883:Rprd1a	UTSW	18	24,640,260 (GRCm39)	missense	possibly damaging	0.50
RF020:Rprd1a	UTSW	18	24,663,062 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTTACCTGTGGTGGCTCAC -3'
(R):5'- TGCCATGATGCTCAGCTGTG -3'

Sequencing Primer
(F):5'- AGGAACAATTTTCATTCTCATCCACC -3'
(R):5'- ACTTTGTGCTAGCACTTAC -3'

Posted On

2019-11-26