Mutagenetix > Incidental Mutation

Incidental Mutation 'R8801:Rprd1a'

671524

Institutional Source

Beutler Lab

Gene Symbol

Rprd1a

Ensembl Gene

ENSMUSG00000040446

Gene Name

regulation of nuclear pre-mRNA domain containing 1A

Synonyms

MMRRC Submission

068611-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8801 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24618017-24663261 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 24641280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 112 (E112A)

Ref Sequence

ENSEMBL: ENSMUSP00000043618 (fasta)

Gene Model

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

AlphaFold

Q8VDS4

Predicted Effect

probably benign
Transcript: ENSMUST00000046206
AA Change: E112A

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000043618
Gene: ENSMUSG00000040446
AA Change: E112A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	G	A	6: 92,808,972 (GRCm39)	V100I	unknown	Het
Acta2	G	T	19: 34,229,207 (GRCm39)	Q61K	probably damaging	Het
Adamts20	T	G	15: 94,258,490 (GRCm39)	D357A	probably damaging	Het
Adcy4	A	G	14: 56,009,452 (GRCm39)	F798S	probably benign	Het
Aldh16a1	A	G	7: 44,791,438 (GRCm39)	V779A	probably benign	Het
Arid1b	C	A	17: 5,387,103 (GRCm39)	P1466T	probably benign	Het
B3gnt2	T	C	11: 22,787,002 (GRCm39)	E62G	probably damaging	Het
Bcan	A	C	3: 87,904,582 (GRCm39)	V58G	probably damaging	Het
Bhlhe41	T	C	6: 145,810,339 (GRCm39)	Q66R	probably damaging	Het
Cdh6	G	A	15: 13,044,847 (GRCm39)	T425I	probably damaging	Het
Ciao2b	C	T	8: 105,367,599 (GRCm39)		probably null	Het
Csmd2	A	G	4: 128,457,195 (GRCm39)	Y3554C	probably damaging	Het
Csmd3	T	A	15: 48,321,024 (GRCm39)	H262L	possibly damaging	Het
Dgcr8	A	G	16: 18,098,500 (GRCm39)	F334S	probably damaging	Het
Dipk1c	T	C	18: 84,757,617 (GRCm39)	S234P	probably benign	Het
Dsg1c	A	G	18: 20,410,022 (GRCm39)	T497A	probably benign	Het
Dsp	T	C	13: 38,381,502 (GRCm39)	V2749A	possibly damaging	Het
Esr1	A	G	10: 4,916,270 (GRCm39)	N486D	unknown	Het
Fbn2	T	C	18: 58,287,021 (GRCm39)	T213A	probably damaging	Het
Fbxo41	T	A	6: 85,461,663 (GRCm39)	E15V	probably damaging	Het
Fga	G	A	3: 82,938,188 (GRCm39)	A188T	possibly damaging	Het
Frk	C	T	10: 34,423,402 (GRCm39)	S160F	possibly damaging	Het
Gm4559	CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT	CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT	7: 141,827,553 (GRCm39)		probably benign	Het
Gss	T	C	2: 155,406,686 (GRCm39)	Y432C	probably damaging	Het
Ifi27l2b	A	T	12: 103,423,298 (GRCm39)	F5I	unknown	Het
Insm1	T	A	2: 146,065,346 (GRCm39)	Y387*	probably null	Het
Klf12	T	G	14: 100,260,172 (GRCm39)	I186L	probably benign	Het
Klrg1	C	T	6: 122,248,342 (GRCm39)	V186I	probably benign	Het
Loxl3	G	T	6: 83,025,629 (GRCm39)	W329L	probably damaging	Het
Lyst	T	A	13: 13,835,595 (GRCm39)	V1759E	probably benign	Het
Mlph	G	A	1: 90,870,609 (GRCm39)	V507I	probably benign	Het
Mroh8	G	A	2: 157,075,086 (GRCm39)	T470M	probably damaging	Het
Nampt	T	C	12: 32,888,373 (GRCm39)	Y175H	possibly damaging	Het
Nedd4l	A	G	18: 65,288,346 (GRCm39)	E2G	probably damaging	Het
Nrxn1	A	G	17: 91,009,393 (GRCm39)		probably benign	Het
Optc	A	G	1: 133,832,819 (GRCm39)	S94P	possibly damaging	Het
Or8k33	A	G	2: 86,383,727 (GRCm39)	V247A	probably benign	Het
Oxtr	T	A	6: 112,466,873 (GRCm39)		probably benign	Het
Phip	T	C	9: 82,758,305 (GRCm39)	R1463G	probably benign	Het
Pramel30	A	G	4: 144,059,438 (GRCm39)	Y383C	probably benign	Het
Psmc3ip	T	C	11: 100,984,617 (GRCm39)	N76S	probably benign	Het
Reln	T	A	5: 22,155,854 (GRCm39)	M2213L	possibly damaging	Het
Rock1	T	C	18: 10,070,260 (GRCm39)	D1271G	probably damaging	Het
Sacm1l	A	T	9: 123,411,384 (GRCm39)	D391V	probably damaging	Het
Serpina3f	A	T	12: 104,185,737 (GRCm39)	H314L	probably benign	Het
Setd5	T	A	6: 113,127,853 (GRCm39)	S1269T	possibly damaging	Het
Syne1	T	C	10: 5,308,335 (GRCm39)	E740G	probably damaging	Het
Tcaf1	T	A	6: 42,663,742 (GRCm39)	Q46L	probably damaging	Het
Tcam1	G	A	11: 106,173,618 (GRCm39)	A21T	probably benign	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,354,015 (GRCm39)		probably benign	Het
Ttll11	A	T	2: 35,792,985 (GRCm39)	L286H	probably damaging	Het
Usp1	A	G	4: 98,822,848 (GRCm39)	T721A	probably benign	Het
Vps41	T	C	13: 18,998,403 (GRCm39)	S241P	possibly 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
R7750:Rprd1a	UTSW	18	24,641,311 (GRCm39)	nonsense	probably null
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'- TACCTGTGGTGGCTCACTTG -3'
(R):5'- AGTTGCTGCCATGATGCTC -3'

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

Posted On

2021-04-30