Mutagenetix > Incidental Mutation

Incidental Mutation 'R9035:Prkra'

687272

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

068864-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.518) question?

Stock #

R9035 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76460242-76478359 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76460856 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 281 (I281V)

Ref Sequence

ENSEMBL: ENSMUSP00000002808 (fasta)

Gene Model

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

AlphaFold

Q9WTX2

Predicted Effect

probably benign
Transcript: ENSMUST00000002808
AA Change: I281V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000002808
Gene: ENSMUSG00000002731
AA Change: I281V

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

99% (90/91)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,021,461 (GRCm39)	L1083P	probably damaging	Het
Anxa7	G	T	14: 20,510,460 (GRCm39)	T356K	probably damaging	Het
Atg16l1	T	C	1: 87,693,167 (GRCm39)		probably null	Het
Bptf	A	G	11: 106,963,842 (GRCm39)	V1784A	probably damaging	Het
Cabs1	T	C	5: 88,128,309 (GRCm39)	V320A	probably damaging	Het
Camta1	A	C	4: 151,229,159 (GRCm39)	S558A	probably benign	Het
Ccdc180	A	T	4: 45,906,922 (GRCm39)	K466*	probably null	Het
Cdhr1	G	A	14: 36,810,924 (GRCm39)	P279L	possibly damaging	Het
Cenpe	A	G	3: 134,976,572 (GRCm39)	N2393S	probably benign	Het
Cep104	T	C	4: 154,063,462 (GRCm39)	V8A	probably benign	Het
Chaf1a	T	A	17: 56,371,110 (GRCm39)	V665E	probably damaging	Het
Clasp1	T	A	1: 118,431,583 (GRCm39)	D404E	probably damaging	Het
Clnk	G	A	5: 38,907,751 (GRCm39)	T169I	possibly damaging	Het
Cnst	G	A	1: 179,437,587 (GRCm39)	A384T	possibly damaging	Het
Ctnnd2	T	A	15: 30,332,162 (GRCm39)	M15K	possibly damaging	Het
Dlgap1	T	A	17: 70,823,855 (GRCm39)	L280Q	possibly damaging	Het
Dll1	T	C	17: 15,588,959 (GRCm39)	K572R	probably benign	Het
Dnai4	T	A	4: 102,905,499 (GRCm39)	K761*	probably null	Het
Dolk	C	A	2: 30,174,542 (GRCm39)	W501L	probably damaging	Het
Ednrb	G	A	14: 104,080,665 (GRCm39)	P83L	probably benign	Het
Edrf1	T	C	7: 133,245,431 (GRCm39)	W190R	probably damaging	Het
Epha5	T	A	5: 84,255,886 (GRCm39)	D468V	probably damaging	Het
Fat2	G	T	11: 55,194,547 (GRCm39)	P1164Q	probably damaging	Het
Fbln5	A	T	12: 101,717,041 (GRCm39)	V436E	probably damaging	Het
Fbxw10	G	T	11: 62,758,449 (GRCm39)	R558L	possibly damaging	Het
Fhod3	C	A	18: 25,161,140 (GRCm39)	S557R	probably benign	Het
Gmip	A	T	8: 70,273,298 (GRCm39)	H863L	probably damaging	Het
Grm3	A	T	5: 9,620,464 (GRCm39)	I260N	probably damaging	Het
Gtpbp8	G	A	16: 44,566,511 (GRCm39)	P64S	probably benign	Het
Hand1	A	C	11: 57,722,548 (GRCm39)	M22R	probably benign	Het
Ift70b	T	C	2: 75,767,596 (GRCm39)	T386A	probably benign	Het
Igsf21	A	G	4: 139,884,782 (GRCm39)	V58A	probably damaging	Het
Ikzf2	G	A	1: 69,578,637 (GRCm39)	R291*	probably null	Het
Itih4	C	G	14: 30,618,650 (GRCm39)	P687R	probably benign	Het
Kifc3	C	T	8: 95,853,195 (GRCm39)	D54N	possibly damaging	Het
Kmt2c	G	T	5: 25,524,010 (GRCm39)	Q1739K	probably damaging	Het
Krtap4-1	G	T	11: 99,518,708 (GRCm39)	R101S	unknown	Het
L3mbtl2	T	A	15: 81,560,744 (GRCm39)		probably benign	Het
Lcor	A	T	19: 41,573,399 (GRCm39)	H718L	probably benign	Het
Lrrc73	T	C	17: 46,565,293 (GRCm39)	I8T	probably damaging	Het
Med19	C	A	2: 84,516,532 (GRCm39)		probably benign	Het
Mgarp	C	T	3: 51,296,264 (GRCm39)	S246N	unknown	Het
Mkrn2	T	C	6: 115,594,681 (GRCm39)	S414P	possibly damaging	Het
Mucl2	C	T	15: 103,926,279 (GRCm39)	R137H	unknown	Het
Myo1g	A	G	11: 6,464,916 (GRCm39)	Y453H	probably damaging	Het
Nacc2	C	A	2: 25,951,605 (GRCm39)	R410L	probably damaging	Het
Ndufs3	C	T	2: 90,725,217 (GRCm39)	R210H	probably damaging	Het
Nlgn1	G	T	3: 25,488,595 (GRCm39)	T580K	probably damaging	Het
Nobox	A	T	6: 43,284,522 (GRCm39)	D41E	probably damaging	Het
Nsd1	A	G	13: 55,393,667 (GRCm39)	R526G	possibly damaging	Het
Nt5e	A	G	9: 88,246,873 (GRCm39)	M370V	probably benign	Het
Olfm5	T	A	7: 103,803,099 (GRCm39)	N455Y	probably damaging	Het
Or2g7	T	C	17: 38,378,179 (GRCm39)	V39A	probably benign	Het
Or4c101	T	A	2: 88,389,863 (GRCm39)	F6I	probably damaging	Het
Or52e19	T	C	7: 102,959,186 (GRCm39)	I86T	probably damaging	Het
Or8g50	G	A	9: 39,648,886 (GRCm39)	M258I	probably benign	Het
Or8k33	T	A	2: 86,384,021 (GRCm39)	Y149F	probably damaging	Het
Pcdhac2	T	C	18: 37,277,758 (GRCm39)	V246A	probably damaging	Het
Pclo	A	T	5: 14,763,192 (GRCm39)	Q603H		Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pkhd1	T	A	1: 20,573,176 (GRCm39)	Q1910L	probably damaging	Het
Plg	C	A	17: 12,609,107 (GRCm39)	Y137*	probably null	Het
Prrc2c	A	C	1: 162,503,295 (GRCm39)	L2722R	possibly damaging	Het
Prss12	A	G	3: 123,279,149 (GRCm39)	T409A	probably damaging	Het
Rnaseh1	A	G	12: 28,708,290 (GRCm39)	Q256R	probably benign	Het
Rpp14	T	A	14: 8,083,772 (GRCm38)	Y17N	possibly damaging	Het
Ryr1	A	T	7: 28,790,422 (GRCm39)	H1468Q	probably damaging	Het
Scp2	C	T	4: 107,912,717 (GRCm39)	V463M	probably damaging	Het
Sf3b4	C	A	3: 96,080,381 (GRCm39)	H43Q	probably damaging	Het
Sgpp1	T	C	12: 75,782,238 (GRCm39)	S34G	probably benign	Het
Shisa9	T	A	16: 11,802,902 (GRCm39)	I153N	probably damaging	Het
Sin3b	C	A	8: 73,450,092 (GRCm39)	P3H	unknown	Het
Slc15a2	C	A	16: 36,602,719 (GRCm39)	K47N	possibly damaging	Het
Slc30a6	T	A	17: 74,726,586 (GRCm39)	F297L	probably benign	Het
Slc45a3	TGGGG	TGGGGG	1: 131,909,187 (GRCm39)		probably null	Het
Slfn4	A	T	11: 83,077,476 (GRCm39)	D88V	probably benign	Het
Tgs1	C	A	4: 3,593,491 (GRCm39)	Q460K	probably benign	Het
Tlr11	A	T	14: 50,598,434 (GRCm39)	D140V	probably benign	Het
Tmem215	T	A	4: 40,473,945 (GRCm39)	N7K	probably damaging	Het
Tmem245	T	C	4: 56,922,384 (GRCm39)		probably benign	Het
Tnfsf10	G	A	3: 27,389,379 (GRCm39)	D147N	probably benign	Het
Tpm1	A	G	9: 66,955,138 (GRCm39)	L57P	possibly damaging	Het
Trappc10	T	C	10: 78,043,723 (GRCm39)		probably benign	Het
Trmt9b	C	T	8: 36,978,954 (GRCm39)	R186*	probably null	Het
Ttn	T	C	2: 76,593,061 (GRCm39)	T20730A	possibly damaging	Het
Uap1	A	T	1: 169,977,013 (GRCm39)	Y395*	probably null	Het
Usp2	A	T	9: 43,987,176 (GRCm39)	D158V	probably damaging	Het
Usp30	A	G	5: 114,243,877 (GRCm39)	M149V	probably benign	Het
Vmn2r2	T	C	3: 64,024,172 (GRCm39)	N803S	probably damaging	Het
Vmn2r85	A	G	10: 130,261,479 (GRCm39)	V286A	probably benign	Het
Xdh	T	C	17: 74,217,222 (GRCm39)	H682R	probably benign	Het
Zbed3	T	A	13: 95,472,999 (GRCm39)	L141Q	probably damaging	Het
Zfp623	T	C	15: 75,820,162 (GRCm39)	C373R	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
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
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
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'- TTTTGCTTGGAAAGAAGGGC -3'
(R):5'- TTTTATAGCCCAGGCCAGCC -3'

Sequencing Primer
(F):5'- CGAGGGAAACTTCTTTGCGC -3'
(R):5'- CTTTATGCCCCAGGTGAATCTAGAAC -3'

Posted On

2021-11-19