Mutagenetix > Incidental Mutations

Incidental Mutation 'R8181:Prkra'

634588

Institutional Source

Beutler Lab

Gene Symbol

Prkra

Ensembl Gene

ENSMUSG00000002731

Gene Name

protein kinase, interferon inducible double stranded RNA dependent activator

Synonyms

lear, PRK, Pact, RAX

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.493) question?

Stock #

R8181 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76629898-76648015 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 76639290 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 142 (L142V)

Ref Sequence

ENSEMBL: ENSMUSP00000002808 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002808]

AlphaFold

Q9WTX2

Predicted Effect

probably damaging
Transcript: ENSMUST00000002808
AA Change: L142V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000002808
Gene: ENSMUSG00000002731
AA Change: L142V

Domain	Start	End	E-Value	Type
DSRM	35	100	4.63e-24	SMART
DSRM	127	193	2.23e-17	SMART
DSRM	241	307	1.16e-6	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (73/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein kinase activated by double-stranded RNA which mediates the effects of interferon in response to viral infection. Mutations in this gene have been associated with dystonia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]
PHENOTYPE: Mice homozygous for a deletion of the entire gene show embryonic lethality prior to implantation. Mice homozygous for a deletion in the last exon are viable but exhibit small size, turbinate hypoplasia, short snout, severe microtia, outer and middle ear defects, and impaired hearing. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	A	3: 138,068,395	S1115N	probably damaging	Het
9030617O03Rik	A	G	12: 100,850,111		probably null	Het
Abca1	A	G	4: 53,059,303	V1551A	probably benign	Het
Adam30	T	C	3: 98,162,975	I708T	probably benign	Het
Aim1	T	A	10: 43,986,326	Y1484F	probably damaging	Het
Aknad1	T	A	3: 108,752,012	L114H	possibly damaging	Het
Akr1c18	G	A	13: 4,135,263	S290L	probably benign	Het
Aldh18a1	G	T	19: 40,557,437	D635E	probably benign	Het
Bax	G	T	7: 45,466,274	P23Q	probably null	Het
Bhlha15	A	T	5: 144,191,426	N119Y	probably damaging	Het
Boll	T	A	1: 55,363,319	M1L	probably benign	Het
C2cd2	A	T	16: 97,892,302	I123N	probably benign	Het
Cacnb4	A	C	2: 52,474,985	S89A	probably benign	Het
Calca	A	G	7: 114,635,152	C21R	probably benign	Het
Calcr	T	C	6: 3,693,899	I325M	probably benign	Het
Card14	T	A	11: 119,321,892	F94Y	probably damaging	Het
Chil3	A	C	3: 106,149,887	I247S	probably damaging	Het
Clca3b	T	C	3: 144,839,137	N363S	probably benign	Het
Cnksr3	A	G	10: 7,120,475	V494A	possibly damaging	Het
Cog4	A	G	8: 110,852,085		probably null	Het
Dmp1	T	A	5: 104,211,514		probably null	Het
Dscaml1	T	A	9: 45,746,842	I1637N	possibly damaging	Het
Ercc6	T	A	14: 32,557,948	I640N	probably damaging	Het
Esp16	G	T	17: 39,539,816	E29*	probably null	Het
Fam149a	T	C	8: 45,381,718	I15V	possibly damaging	Het
Flt4	T	A	11: 49,634,896	I724N	probably damaging	Het
Glb1	C	T	9: 114,430,361	R202C	probably damaging	Het
Gmpr2	C	A	14: 55,672,984	S41*	probably null	Het
Golgb1	T	A	16: 36,916,830	D2187E	probably damaging	Het
Gpsm2	A	G	3: 108,689,764		probably null	Het
Helz	A	G	11: 107,672,573	D1613G	unknown	Het
Hemgn	A	C	4: 46,396,504	M244R	possibly damaging	Het
Hsd3b1	A	T	3: 98,856,137	V56E	probably damaging	Het
Jup	A	T	11: 100,376,925	I524N	probably damaging	Het
Kdm1b	G	T	13: 47,051,901		probably null	Het
Kif11	A	T	19: 37,390,647		probably null	Het
Lars	A	T	18: 42,228,770	W591R	probably damaging	Het
Lrtm1	T	A	14: 29,021,937	S121T	probably damaging	Het
Med12l	A	C	3: 59,261,968	D1593A	probably damaging	Het
Med17	A	T	9: 15,277,632	D112E	possibly damaging	Het
Mettl2	T	A	11: 105,129,040	F168I	probably benign	Het
Mmp9	A	T	2: 164,950,445	D323V	probably damaging	Het
Mpzl2	C	T	9: 45,049,708	T214I	probably benign	Het
Ms4a15	T	C	19: 10,981,306	H134R	probably benign	Het
Ms4a6d	T	A	19: 11,603,289	I2F	probably damaging	Het
Muc3a	G	A	5: 137,210,078	P206S	unknown	Het
Nectin2	C	A	7: 19,724,808	L359F	probably damaging	Het
Olfr1276	T	A	2: 111,257,573	F153I	probably benign	Het
Olfr1371	C	A	11: 52,213,269	C240F	probably damaging	Het
Pgm1	G	T	5: 64,112,124	C518F	possibly damaging	Het
Plppr4	A	G	3: 117,322,465	V581A	probably damaging	Het
Prpf38a	G	A	4: 108,576,998	T74I	probably benign	Het
Ptprs	T	A	17: 56,429,064	N635I	probably damaging	Het
Rxfp2	A	G	5: 150,063,736	N361D	probably benign	Het
Ryr3	T	G	2: 112,778,243	I2351L	probably damaging	Het
Sfmbt2	A	T	2: 10,575,379	T618S	probably benign	Het
Six6	A	G	12: 72,940,132	D26G	probably damaging	Het
Slc20a1	T	C	2: 129,209,127	L568P	probably damaging	Het
Slx4ip	T	A	2: 137,000,184	C10S	probably damaging	Het
Sox13	G	T	1: 133,383,760	T578K	probably benign	Het
Spire2	A	T	8: 123,361,303	S509C	probably damaging	Het
Sptbn4	T	C	7: 27,375,383	D1521G	possibly damaging	Het
Sult2a7	T	C	7: 14,470,173	T207A	probably benign	Het
Sun2	A	G	15: 79,725,520	I708T	probably damaging	Het
Supt5	T	C	7: 28,331,474	E44G	unknown	Het
Thsd1	A	G	8: 22,243,006	E23G	probably damaging	Het
Ticrr	T	C	7: 79,660,980	V214A	possibly damaging	Het
Vmn2r74	A	T	7: 85,956,116	F441L	probably damaging	Het
Zfp30	A	G	7: 29,793,655	T526A	probably benign	Het
Zfp518a	G	T	19: 40,913,971	Q781H	probably damaging	Het
Zmynd11	A	G	13: 9,689,651	V434A	probably benign	Het
Zranb1	A	G	7: 132,983,779	D652G	probably damaging	Het

Other mutations in Prkra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01459:Prkra	APN	2	76630436	missense	probably damaging	1.00
IGL02016:Prkra	APN	2	76643309	splice site	probably null
IGL02823:Prkra	APN	2	76630424	missense	probably damaging	1.00
IGL02962:Prkra	APN	2	76633547	missense	probably damaging	1.00
IGL03265:Prkra	APN	2	76640270	missense	probably benign	0.06
smallear	UTSW	2	76630535	missense	probably damaging	1.00
R1520:Prkra	UTSW	2	76639278	missense	possibly damaging	0.62
R1609:Prkra	UTSW	2	76633592	missense	probably benign	0.06
R1751:Prkra	UTSW	2	76647240	missense	possibly damaging	0.63
R1767:Prkra	UTSW	2	76647240	missense	possibly damaging	0.63
R2131:Prkra	UTSW	2	76647136	missense	probably damaging	1.00
R5288:Prkra	UTSW	2	76639278	missense	probably damaging	0.99
R5385:Prkra	UTSW	2	76639278	missense	probably damaging	0.99
R5386:Prkra	UTSW	2	76639278	missense	probably damaging	0.99
R6802:Prkra	UTSW	2	76633537	missense	probably damaging	1.00
R6918:Prkra	UTSW	2	76630453	missense	probably damaging	1.00
R7445:Prkra	UTSW	2	76633598	missense	probably benign	0.25
R7471:Prkra	UTSW	2	76647201	missense	probably benign	0.01
R8290:Prkra	UTSW	2	76633638	missense	probably damaging	0.98
R8749:Prkra	UTSW	2	76630535	missense	probably damaging	1.00
R9035:Prkra	UTSW	2	76630512	missense	probably benign	0.00
R9101:Prkra	UTSW	2	76647840	missense	probably benign	0.04
R9115:Prkra	UTSW	2	76647849	missense	probably benign
R9290:Prkra	UTSW	2	76647803	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CACAGAGCCTATAATTTGCCTG -3'
(R):5'- AACAGGGTGTTCTTGCAGTG -3'

Sequencing Primer
(F):5'- AGCCTATAATTTGCCTGTCTTTTCAG -3'
(R):5'- TGCAGTGTCCCATTGGC -3'

Posted On

2020-07-13