Mutagenetix > Incidental Mutation

Incidental Mutation 'R1520:Prkra'

167341

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

039564-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.548) question?

Stock #

R1520 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76460242-76478359 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76469622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 146 (T146A)

Ref Sequence

ENSEMBL: ENSMUSP00000002808 (fasta)

Gene Model

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

AlphaFold

Q9WTX2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002808
AA Change: T146A

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000002808
Gene: ENSMUSG00000002731
AA Change: T146A

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

noncoding transcript
Transcript: ENSMUST00000140493

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 79,844,664 (GRCm39)	N1491S	possibly damaging	Het
Abcb1b	G	A	5: 8,864,768 (GRCm39)	A249T	probably damaging	Het
Acacb	A	G	5: 114,340,001 (GRCm39)	D804G	possibly damaging	Het
Agpat3	A	T	10: 78,123,857 (GRCm39)	M1K	probably null	Het
Akr1c12	A	C	13: 4,326,298 (GRCm39)	I61R	probably damaging	Het
Antxr2	G	A	5: 98,108,551 (GRCm39)	A320V	probably benign	Het
Aoc1l2	T	A	6: 48,908,231 (GRCm39)	Y410*	probably null	Het
Arhgef1	A	G	7: 24,619,129 (GRCm39)	R454G	probably damaging	Het
C1ql4	T	C	15: 98,985,548 (GRCm39)	H21R	probably benign	Het
Celsr3	T	C	9: 108,725,857 (GRCm39)	S3029P	probably damaging	Het
Chaf1a	T	C	17: 56,354,302 (GRCm39)	C191R	unknown	Het
Corin	A	C	5: 72,488,238 (GRCm39)	C627G	probably damaging	Het
Cyp3a11	T	C	5: 145,799,263 (GRCm39)	Y308C	probably damaging	Het
Cyp4a32	A	G	4: 115,471,849 (GRCm39)	N420S	probably damaging	Het
Eftud2	A	G	11: 102,730,266 (GRCm39)	S889P	probably damaging	Het
Eng	A	G	2: 32,562,953 (GRCm39)	H267R	probably benign	Het
Ep400	A	G	5: 110,839,644 (GRCm39)		probably benign	Het
Fmo9	G	T	1: 166,495,024 (GRCm39)	H292Q	probably benign	Het
Frmpd4	T	C	X: 166,275,949 (GRCm39)	S373G	probably damaging	Het
Fsip2	T	A	2: 82,811,058 (GRCm39)	I2459K	possibly damaging	Het
Gbp5	A	T	3: 142,213,775 (GRCm39)	H523L	probably damaging	Het
Gpr65	T	C	12: 98,241,434 (GRCm39)	V29A	probably benign	Het
Igkv7-33	T	A	6: 70,036,132 (GRCm39)		probably benign	Het
Iqcc	G	A	4: 129,510,762 (GRCm39)	T251I	possibly damaging	Het
Jund	A	G	8: 71,151,923 (GRCm39)	T73A	probably benign	Het
Kif14	A	G	1: 136,431,062 (GRCm39)	D1153G	probably benign	Het
Mcm8	T	C	2: 132,681,375 (GRCm39)	V617A	probably benign	Het
Mdga1	A	G	17: 30,065,493 (GRCm39)	F646L	probably benign	Het
Morc3	A	G	16: 93,641,129 (GRCm39)	K54E	probably damaging	Het
Mutyh	T	C	4: 116,674,749 (GRCm39)	L357P	probably damaging	Het
Mylk4	T	C	13: 32,896,821 (GRCm39)		probably null	Het
Or4k41	G	A	2: 111,279,619 (GRCm39)	V45I	probably benign	Het
Osbpl3	T	A	6: 50,323,411 (GRCm39)	D224V	possibly damaging	Het
Parp4	T	C	14: 56,835,863 (GRCm39)	I469T	probably damaging	Het
Pkd1l2	A	G	8: 117,772,898 (GRCm39)	V1043A	probably benign	Het
Plod3	A	G	5: 137,020,165 (GRCm39)	N460S	probably damaging	Het
Preb	A	G	5: 31,115,868 (GRCm39)	F192L	probably benign	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rag2	T	C	2: 101,460,476 (GRCm39)	I262T	probably damaging	Het
Rgr	A	G	14: 36,766,672 (GRCm39)	W125R	probably damaging	Het
Rit1	T	A	3: 88,636,620 (GRCm39)	F211I	probably benign	Het
Sc5d	C	T	9: 42,169,946 (GRCm39)	V92I	probably benign	Het
Serinc2	C	T	4: 130,154,543 (GRCm39)	V234I	probably benign	Het
Srp54b	T	C	12: 55,304,354 (GRCm39)	M434T	possibly damaging	Het
Srrt	C	A	5: 137,297,028 (GRCm39)	R69L	probably damaging	Het
Sv2b	A	G	7: 74,807,077 (GRCm39)	L191P	probably damaging	Het
Tcf12	C	A	9: 71,790,388 (GRCm39)		probably null	Het
Tmem273	A	T	14: 32,527,083 (GRCm39)		probably benign	Het
Tmem87b	T	C	2: 128,681,176 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,647,392 (GRCm39)	E11031G	possibly damaging	Het
Uaca	A	T	9: 60,778,663 (GRCm39)	T1017S	probably benign	Het
Urb1	C	A	16: 90,571,633 (GRCm39)	V1059L	probably benign	Het
V1rd19	G	A	7: 23,702,623 (GRCm39)	A30T	probably damaging	Het
Vldlr	C	T	19: 27,217,943 (GRCm39)	L91F	probably damaging	Het
Vldlr	G	T	19: 27,224,466 (GRCm39)	A770S	possibly damaging	Het
Vmn2r80	A	G	10: 79,030,594 (GRCm39)	T807A	probably damaging	Het
Wwox	C	T	8: 115,438,873 (GRCm39)	P313L	probably benign	Het
Zap70	T	C	1: 36,810,036 (GRCm39)	S49P	probably damaging	Het
Zfp317	A	G	9: 19,559,144 (GRCm39)	I453V	possibly 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
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
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'- TGGCACAGAGCCTATAATTTGCCTG -3'
(R):5'- CCAGCACAGTGGTGCTTTTCAAG -3'

Sequencing Primer
(F):5'- AGAGCCTATAATTTGCCTGTCTTTTC -3'
(R):5'- GCTTTTCAAGCACATGACTAGAAAC -3'

Posted On

2014-04-13