Mutagenetix > Incidental Mutation

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

Pact, RAX, PRK, lear

MMRRC Submission

067605-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.548) question?

Stock #

R8181 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76460242-76478359 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 76469634 bp (GRCm39)

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: 137,774,156 (GRCm39)	S1115N	probably damaging	Het
Abca1	A	G	4: 53,059,303 (GRCm39)	V1551A	probably benign	Het
Adam30	T	C	3: 98,070,291 (GRCm39)	I708T	probably benign	Het
Aknad1	T	A	3: 108,659,328 (GRCm39)	L114H	possibly damaging	Het
Akr1c18	G	A	13: 4,185,262 (GRCm39)	S290L	probably benign	Het
Aldh18a1	G	T	19: 40,545,881 (GRCm39)	D635E	probably benign	Het
Bax	G	T	7: 45,115,698 (GRCm39)	P23Q	probably null	Het
Bhlha15	A	T	5: 144,128,244 (GRCm39)	N119Y	probably damaging	Het
Boll	T	A	1: 55,402,478 (GRCm39)	M1L	probably benign	Het
C2cd2	A	T	16: 97,693,502 (GRCm39)	I123N	probably benign	Het
Cacnb4	A	C	2: 52,364,997 (GRCm39)	S89A	probably benign	Het
Calca	A	G	7: 114,234,387 (GRCm39)	C21R	probably benign	Het
Calcr	T	C	6: 3,693,899 (GRCm39)	I325M	probably benign	Het
Card14	T	A	11: 119,212,718 (GRCm39)	F94Y	probably damaging	Het
Chil3	A	C	3: 106,057,203 (GRCm39)	I247S	probably damaging	Het
Clca3b	T	C	3: 144,544,898 (GRCm39)	N363S	probably benign	Het
Cnksr3	A	G	10: 7,070,475 (GRCm39)	V494A	possibly damaging	Het
Cog4	A	G	8: 111,578,717 (GRCm39)		probably null	Het
Crybg1	T	A	10: 43,862,322 (GRCm39)	Y1484F	probably damaging	Het
Dglucy	A	G	12: 100,816,370 (GRCm39)		probably null	Het
Dmp1	T	A	5: 104,359,380 (GRCm39)		probably null	Het
Dscaml1	T	A	9: 45,658,140 (GRCm39)	I1637N	possibly damaging	Het
Ercc6	T	A	14: 32,279,905 (GRCm39)	I640N	probably damaging	Het
Esp16	G	T	17: 39,850,707 (GRCm39)	E29*	probably null	Het
Fam149a	T	C	8: 45,834,755 (GRCm39)	I15V	possibly damaging	Het
Flt4	T	A	11: 49,525,723 (GRCm39)	I724N	probably damaging	Het
Glb1	C	T	9: 114,259,429 (GRCm39)	R202C	probably damaging	Het
Gmpr2	C	A	14: 55,910,441 (GRCm39)	S41*	probably null	Het
Golgb1	T	A	16: 36,737,192 (GRCm39)	D2187E	probably damaging	Het
Gpsm2	A	G	3: 108,597,080 (GRCm39)		probably null	Het
Helz	A	G	11: 107,563,399 (GRCm39)	D1613G	unknown	Het
Hemgn	A	C	4: 46,396,504 (GRCm39)	M244R	possibly damaging	Het
Hsd3b1	A	T	3: 98,763,453 (GRCm39)	V56E	probably damaging	Het
Jup	A	T	11: 100,267,751 (GRCm39)	I524N	probably damaging	Het
Kdm1b	G	T	13: 47,205,377 (GRCm39)		probably null	Het
Kif11	A	T	19: 37,379,095 (GRCm39)		probably null	Het
Lars1	A	T	18: 42,361,835 (GRCm39)	W591R	probably damaging	Het
Lrtm1	T	A	14: 28,743,894 (GRCm39)	S121T	probably damaging	Het
Med12l	A	C	3: 59,169,389 (GRCm39)	D1593A	probably damaging	Het
Med17	A	T	9: 15,188,928 (GRCm39)	D112E	possibly damaging	Het
Mettl2	T	A	11: 105,019,866 (GRCm39)	F168I	probably benign	Het
Mmp9	A	T	2: 164,792,365 (GRCm39)	D323V	probably damaging	Het
Mpzl2	C	T	9: 44,961,006 (GRCm39)	T214I	probably benign	Het
Ms4a15	T	C	19: 10,958,670 (GRCm39)	H134R	probably benign	Het
Ms4a6d	T	A	19: 11,580,653 (GRCm39)	I2F	probably damaging	Het
Muc3a	G	A	5: 137,244,535 (GRCm39)	P206S	unknown	Het
Nectin2	C	A	7: 19,458,733 (GRCm39)	L359F	probably damaging	Het
Or2y6	C	A	11: 52,104,096 (GRCm39)	C240F	probably damaging	Het
Or4f53	T	A	2: 111,087,918 (GRCm39)	F153I	probably benign	Het
Pgm2	G	T	5: 64,269,467 (GRCm39)	C518F	possibly damaging	Het
Plppr4	A	G	3: 117,116,114 (GRCm39)	V581A	probably damaging	Het
Prpf38a	G	A	4: 108,434,195 (GRCm39)	T74I	probably benign	Het
Ptprs	T	A	17: 56,736,064 (GRCm39)	N635I	probably damaging	Het
Rxfp2	A	G	5: 149,987,201 (GRCm39)	N361D	probably benign	Het
Ryr3	T	G	2: 112,608,588 (GRCm39)	I2351L	probably damaging	Het
Sfmbt2	A	T	2: 10,580,190 (GRCm39)	T618S	probably benign	Het
Six6	A	G	12: 72,986,906 (GRCm39)	D26G	probably damaging	Het
Slc20a1	T	C	2: 129,051,047 (GRCm39)	L568P	probably damaging	Het
Slx4ip	T	A	2: 136,842,104 (GRCm39)	C10S	probably damaging	Het
Sox13	G	T	1: 133,311,498 (GRCm39)	T578K	probably benign	Het
Spire2	A	T	8: 124,088,042 (GRCm39)	S509C	probably damaging	Het
Sptbn4	T	C	7: 27,074,808 (GRCm39)	D1521G	possibly damaging	Het
Sult2a7	T	C	7: 14,204,098 (GRCm39)	T207A	probably benign	Het
Sun2	A	G	15: 79,609,721 (GRCm39)	I708T	probably damaging	Het
Supt5	T	C	7: 28,030,899 (GRCm39)	E44G	unknown	Het
Thsd1	A	G	8: 22,733,022 (GRCm39)	E23G	probably damaging	Het
Ticrr	T	C	7: 79,310,728 (GRCm39)	V214A	possibly damaging	Het
Vmn2r74	A	T	7: 85,605,324 (GRCm39)	F441L	probably damaging	Het
Zfp30	A	G	7: 29,493,080 (GRCm39)	T526A	probably benign	Het
Zfp518a	G	T	19: 40,902,415 (GRCm39)	Q781H	probably damaging	Het
Zmynd11	A	G	13: 9,739,687 (GRCm39)	V434A	probably benign	Het
Zranb1	A	G	7: 132,585,508 (GRCm39)	D652G	probably damaging	Het

Other mutations in Prkra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01459:Prkra	APN	2	76,460,780 (GRCm39)	missense	probably damaging	1.00
IGL02016:Prkra	APN	2	76,473,653 (GRCm39)	splice site	probably null
IGL02823:Prkra	APN	2	76,460,768 (GRCm39)	missense	probably damaging	1.00
IGL02962:Prkra	APN	2	76,463,891 (GRCm39)	missense	probably damaging	1.00
IGL03265:Prkra	APN	2	76,470,614 (GRCm39)	missense	probably benign	0.06
smallear	UTSW	2	76,460,879 (GRCm39)	missense	probably damaging	1.00
R1520:Prkra	UTSW	2	76,469,622 (GRCm39)	missense	possibly damaging	0.62
R1609:Prkra	UTSW	2	76,463,936 (GRCm39)	missense	probably benign	0.06
R1751:Prkra	UTSW	2	76,477,584 (GRCm39)	missense	possibly damaging	0.63
R1767:Prkra	UTSW	2	76,477,584 (GRCm39)	missense	possibly damaging	0.63
R2131:Prkra	UTSW	2	76,477,480 (GRCm39)	missense	probably damaging	1.00
R5288:Prkra	UTSW	2	76,469,622 (GRCm39)	missense	probably damaging	0.99
R5385:Prkra	UTSW	2	76,469,622 (GRCm39)	missense	probably damaging	0.99
R5386:Prkra	UTSW	2	76,469,622 (GRCm39)	missense	probably damaging	0.99
R6802:Prkra	UTSW	2	76,463,881 (GRCm39)	missense	probably damaging	1.00
R6918:Prkra	UTSW	2	76,460,797 (GRCm39)	missense	probably damaging	1.00
R7445:Prkra	UTSW	2	76,463,942 (GRCm39)	missense	probably benign	0.25
R7471:Prkra	UTSW	2	76,477,545 (GRCm39)	missense	probably benign	0.01
R8290:Prkra	UTSW	2	76,463,982 (GRCm39)	missense	probably damaging	0.98
R8749:Prkra	UTSW	2	76,460,879 (GRCm39)	missense	probably damaging	1.00
R9035:Prkra	UTSW	2	76,460,856 (GRCm39)	missense	probably benign	0.00
R9101:Prkra	UTSW	2	76,478,184 (GRCm39)	missense	probably benign	0.04
R9115:Prkra	UTSW	2	76,478,193 (GRCm39)	missense	probably benign
R9290:Prkra	UTSW	2	76,478,147 (GRCm39)	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