Mutagenetix > Incidental Mutation

Incidental Mutation 'R1751:Prkra'

193485

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

039783-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.548) question?

Stock #

R1751 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76460242-76478359 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 76477584 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 40 (H40Q)

Ref Sequence

ENSEMBL: ENSMUSP00000002808 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002808] [ENSMUST00000099986] [ENSMUST00000144817] [ENSMUST00000153471]

AlphaFold

Q9WTX2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002808
AA Change: H40Q

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000002808
Gene: ENSMUSG00000002731
AA Change: H40Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000099986

SMART Domains

Protein: ENSMUSP00000097566
Gene: ENSMUSG00000075267

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	1	278	7.9e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144817

SMART Domains

Protein: ENSMUSP00000119264
Gene: ENSMUSG00000075267

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	1	184	2.2e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153471

SMART Domains

Protein: ENSMUSP00000114409
Gene: ENSMUSG00000075267

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	1	68	3.1e-18	PFAM

Meta Mutation Damage Score

0.0910

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

99% (85/86)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	T	A	8: 43,972,948 (GRCm39)	I685F	probably benign	Het
Alcam	A	T	16: 52,091,077 (GRCm39)	N480K	probably damaging	Het
Arhgef2	A	G	3: 88,551,260 (GRCm39)	Q778R	probably damaging	Het
Ascc3	T	A	10: 50,594,472 (GRCm39)	I1189N	probably damaging	Het
AU040320	G	A	4: 126,734,517 (GRCm39)	G713D	probably damaging	Het
Bank1	G	T	3: 135,940,375 (GRCm39)	R203S	probably benign	Het
Bank1	A	G	3: 135,960,698 (GRCm39)	V53A	probably benign	Het
Cacna1g	T	C	11: 94,350,628 (GRCm39)	S406G	probably benign	Het
Ccdc198	G	A	14: 49,473,341 (GRCm39)	T128I	probably benign	Het
Ccdc40	T	A	11: 119,121,522 (GRCm39)		probably null	Het
Cdc5l	A	T	17: 45,718,731 (GRCm39)	D628E	probably benign	Het
Chd3	G	A	11: 69,244,727 (GRCm39)		probably benign	Het
Clstn3	A	T	6: 124,408,958 (GRCm39)	W860R	probably damaging	Het
Cntn4	G	A	6: 106,595,371 (GRCm39)		probably null	Het
Coq10b	A	G	1: 55,100,513 (GRCm39)	R66G	probably damaging	Het
Cpn2	A	T	16: 30,078,485 (GRCm39)	Y405*	probably null	Het
Cyp2b9	T	C	7: 25,886,100 (GRCm39)	V89A	probably benign	Het
Depdc1a	T	C	3: 159,228,924 (GRCm39)	C559R	probably damaging	Het
Ephx1	C	T	1: 180,822,242 (GRCm39)	G101S	probably damaging	Het
Fam20a	A	T	11: 109,568,664 (GRCm39)	N287K	probably damaging	Het
Flg	A	T	3: 93,187,220 (GRCm39)	Y224F	possibly damaging	Het
Fzd8	C	T	18: 9,213,643 (GRCm39)	R242C	probably damaging	Het
Gart	A	C	16: 91,439,837 (GRCm39)		probably benign	Het
Gm11116	T	C	5: 88,259,311 (GRCm39)		probably benign	Het
Gm5519	T	C	19: 33,802,391 (GRCm39)	Y145H	possibly damaging	Het
Gmeb1	G	A	4: 131,962,198 (GRCm39)	Q154*	probably null	Het
Gnas	T	A	2: 174,139,687 (GRCm39)		probably benign	Het
Greb1	A	G	12: 16,773,439 (GRCm39)		probably benign	Het
Grin3a	A	T	4: 49,844,423 (GRCm39)	V220E	probably damaging	Het
Gstt2	T	C	10: 75,670,098 (GRCm39)	D8G	probably damaging	Het
Gucy2c	A	T	6: 136,725,773 (GRCm39)		probably benign	Het
Igf2r	A	C	17: 12,916,328 (GRCm39)	S1677A	possibly damaging	Het
Jmjd1c	T	C	10: 67,061,469 (GRCm39)	L1274P	probably benign	Het
Krt13	A	C	11: 100,011,926 (GRCm39)	H132Q	possibly damaging	Het
L1td1	T	C	4: 98,625,686 (GRCm39)	V627A	probably benign	Het
Lrp6	A	G	6: 134,441,531 (GRCm39)	L1145S	probably damaging	Het
Lrrn4cl	A	G	19: 8,829,135 (GRCm39)	T38A	probably benign	Het
Ly96	A	G	1: 16,776,399 (GRCm39)	T112A	probably benign	Het
Meltf	G	T	16: 31,702,747 (GRCm39)	C158F	probably damaging	Het
Mycbp2	A	T	14: 103,485,841 (GRCm39)	H1040Q	probably damaging	Het
Nol8	A	T	13: 49,820,884 (GRCm39)	T914S	probably benign	Het
Npas4	G	A	19: 5,038,211 (GRCm39)	P199L	probably benign	Het
Or12d17	A	T	17: 37,777,792 (GRCm39)	M232L	probably benign	Het
Pcdh10	A	T	3: 45,338,612 (GRCm39)	H923L	probably damaging	Het
Pcp4	A	C	16: 96,326,689 (GRCm39)	Q290P	probably damaging	Het
Pdlim1	C	T	19: 40,240,348 (GRCm39)		probably benign	Het
Pias3	T	C	3: 96,608,719 (GRCm39)	S228P	probably damaging	Het
Pign	A	G	1: 105,580,917 (GRCm39)	V154A	probably benign	Het
Pik3c2a	A	C	7: 115,945,471 (GRCm39)	V1445G	probably damaging	Het
Plod3	T	A	5: 137,019,030 (GRCm39)	V305E	possibly damaging	Het
Plxnc1	A	G	10: 94,685,677 (GRCm39)		probably benign	Het
Retnlg	A	T	16: 48,693,991 (GRCm39)	D49V	possibly damaging	Het
Rfx2	A	G	17: 57,091,754 (GRCm39)	V313A	probably benign	Het
Robo2	A	G	16: 73,831,912 (GRCm39)	V256A	probably damaging	Het
Rtp1	A	G	16: 23,250,124 (GRCm39)	E163G	probably damaging	Het
Sbpl	A	G	17: 24,173,777 (GRCm39)		probably null	Het
Scg3	G	A	9: 75,576,622 (GRCm39)	T251M	probably damaging	Het
Setbp1	T	C	18: 78,900,613 (GRCm39)	D1018G	probably damaging	Het
Slc38a11	T	A	2: 65,180,452 (GRCm39)	I182F	probably benign	Het
Slc6a20a	T	A	9: 123,466,165 (GRCm39)	I522F	probably damaging	Het
Smarca2	T	C	19: 26,617,780 (GRCm39)		probably benign	Het
Ssbp3	G	T	4: 106,904,612 (GRCm39)	D336Y	probably damaging	Het
Stox1	T	C	10: 62,495,445 (GRCm39)	T943A	probably damaging	Het
Sun2	A	G	15: 79,609,758 (GRCm39)	S694P	probably benign	Het
Tdp1	G	A	12: 99,857,602 (GRCm39)		probably null	Het
Tfap2a	A	T	13: 40,878,613 (GRCm39)	I204N	probably damaging	Het
Tfip11	T	A	5: 112,482,298 (GRCm39)	W519R	probably damaging	Het
Tie1	T	C	4: 118,333,373 (GRCm39)	E831G	possibly damaging	Het
Tln2	C	T	9: 67,193,796 (GRCm39)	A1773T	probably benign	Het
Tmem39b	A	C	4: 129,586,976 (GRCm39)	I78M	possibly damaging	Het
Trank1	T	C	9: 111,220,547 (GRCm39)	V2428A	probably benign	Het
Trim35	A	G	14: 66,541,617 (GRCm39)	E247G	probably damaging	Het
Trpc7	T	A	13: 56,923,956 (GRCm39)	D743V	probably damaging	Het
Trrap	T	C	5: 144,751,385 (GRCm39)		probably null	Het
Tsc1	A	G	2: 28,566,038 (GRCm39)	I485V	probably damaging	Het
Tsc22d1	T	C	14: 76,655,542 (GRCm39)	S674P	probably damaging	Het
Tsn	A	T	1: 118,228,618 (GRCm39)	D201E	probably damaging	Het
Tsr3	T	C	17: 25,461,613 (GRCm39)	I317T	possibly damaging	Het
Tubb1	A	G	2: 174,298,689 (GRCm39)	S124G	probably benign	Het
Vmn1r192	A	G	13: 22,371,441 (GRCm39)	S260P	probably benign	Het
Vmn2r108	A	T	17: 20,682,786 (GRCm39)	V806E	probably damaging	Het
Wnt10b	A	T	15: 98,670,556 (GRCm39)	L228Q	probably damaging	Het
Zfp108	C	A	7: 23,961,321 (GRCm39)	H637Q	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
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
R8181:Prkra	UTSW	2	76,469,634 (GRCm39)	missense	probably damaging	1.00
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'- TCTTAGCGAGACAGAACTAGGGAGC -3'
(R):5'- TGTCGGGCAGCATTCTGGGTAAAG -3'

Sequencing Primer
(F):5'- GGAGTCTCTTGTCTTCAGAGTACAC -3'
(R):5'- GTGTCTAGCTGCCTAGTCCAAG -3'

Posted On

2014-05-23