Mutagenetix > Incidental Mutation

Incidental Mutation 'R9764:Riok2'

733175

Institutional Source

Beutler Lab

Gene Symbol

Riok2

Ensembl Gene

ENSMUSG00000116564

Gene Name

RIO kinase 2

Synonyms

2410085M17Rik, 2010110K24Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

R9764 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17594594-17615161 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17607814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 454 (N454S)

Ref Sequence

ENSEMBL: ENSMUSP00000024620 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024620] [ENSMUST00000232199] [ENSMUST00000232396]

AlphaFold

Q9CQS5

Predicted Effect

probably benign
Transcript: ENSMUST00000024620
AA Change: N454S

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000024620
Gene: ENSMUSG00000116564
AA Change: N454S

Domain	Start	End	E-Value	Type
Pfam:Rio2_N	9	91	9.5e-36	PFAM
Pfam:Kdo	105	193	6.3e-8	PFAM
Pfam:RIO1	108	284	1.7e-57	PFAM
Pfam:APH	194	278	3.2e-8	PFAM
low complexity region	326	340	N/A	INTRINSIC
low complexity region	501	518	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000232199

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232396
AA Change: N454S

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029F12Rik	T	C	13: 97,166,738 (GRCm39)	T93A	unknown	Het
Adgrg6	T	A	10: 14,302,515 (GRCm39)	H938L	probably benign	Het
Aff1	A	G	5: 103,997,365 (GRCm39)	Y1153C	probably damaging	Het
Akr1c20	T	A	13: 4,564,388 (GRCm39)	I42L	probably benign	Het
Atad2b	T	A	12: 5,082,064 (GRCm39)	N1324K	probably benign	Het
Aurka	T	A	2: 172,201,760 (GRCm39)	I270F	probably damaging	Het
Camk2g	A	T	14: 20,815,498 (GRCm39)	D189E	probably damaging	Het
Cc2d2b	A	G	19: 40,804,299 (GRCm39)	D942G	unknown	Het
Ccnd1	A	C	7: 144,491,770 (GRCm39)	S90A	probably benign	Het
Cfap77	G	T	2: 28,852,741 (GRCm39)	T177K	probably damaging	Het
Chd9	A	G	8: 91,721,220 (GRCm39)	N1003D	unknown	Het
Chga	C	G	12: 102,525,613 (GRCm39)	Q85E	possibly damaging	Het
Cnot1	T	C	8: 96,496,209 (GRCm39)	S322G	probably benign	Het
Cyp8b1	C	A	9: 121,744,294 (GRCm39)	S346I	probably benign	Het
Cysltr2	T	A	14: 73,266,906 (GRCm39)	H268L	probably damaging	Het
Dnah11	T	C	12: 117,884,704 (GRCm39)	T3783A	probably benign	Het
Dock3	C	T	9: 106,959,713 (GRCm39)	V109I	probably benign	Het
Dscc1	A	G	15: 54,953,674 (GRCm39)	C50R	probably benign	Het
Dtx3l	T	A	16: 35,753,277 (GRCm39)	D443V	probably damaging	Het
Ephb6	A	G	6: 41,592,911 (GRCm39)	H383R	probably benign	Het
Fdft1	A	G	14: 63,400,869 (GRCm39)	I88T	probably damaging	Het
Fmo3	C	A	1: 162,794,524 (GRCm39)	W182L	probably benign	Het
Folh1	T	A	7: 86,406,158 (GRCm39)	Q305L	probably benign	Het
Gale	C	T	4: 135,692,975 (GRCm39)	Q73*	probably null	Het
Gm9195	T	C	14: 72,699,885 (GRCm39)	M1154V	unknown	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Gtsf1l	T	C	2: 162,929,052 (GRCm39)	T144A	probably benign	Het
Itpkc	T	C	7: 26,927,222 (GRCm39)	T231A	probably benign	Het
Kng2	C	A	16: 22,822,737 (GRCm39)	C205F	probably damaging	Het
Ldlrap1	T	G	4: 134,476,661 (GRCm39)	N244T	probably benign	Het
Lingo2	A	G	4: 35,709,750 (GRCm39)	F77L	possibly damaging	Het
Lpcat2b	A	T	5: 107,581,438 (GRCm39)	T256S	possibly damaging	Het
Lrit2	A	G	14: 36,790,936 (GRCm39)	D205G	probably damaging	Het
Lrrc34	T	C	3: 30,697,467 (GRCm39)	D88G	probably damaging	Het
Macf1	T	C	4: 123,366,136 (GRCm39)	E2875G	probably benign	Het
Med13	G	T	11: 86,177,345 (GRCm39)	Q1584K	possibly damaging	Het
Naip5	C	G	13: 100,367,269 (GRCm39)	A276P	probably damaging	Het
Ndufv2	A	G	17: 66,394,503 (GRCm39)	Y121H	probably damaging	Het
Or4f52	T	A	2: 111,061,521 (GRCm39)	I206F	probably damaging	Het
Peg12	T	C	7: 62,113,297 (GRCm39)	T267A	unknown	Het
Pkig	A	G	2: 163,567,375 (GRCm39)		probably null	Het
Prkch	C	G	12: 73,747,078 (GRCm39)	T319S	probably benign	Het
Rhobtb1	T	C	10: 69,115,202 (GRCm39)	S534P	probably damaging	Het
Ryr2	T	A	13: 11,701,935 (GRCm39)	K2907N	possibly damaging	Het
Sdc3	C	T	4: 130,546,048 (GRCm39)	P136S	unknown	Het
Slc37a3	G	A	6: 39,322,844 (GRCm39)	L371F	probably damaging	Het
Slc3a1	A	T	17: 85,371,419 (GRCm39)	H657L	probably damaging	Het
Slc7a13	T	A	4: 19,819,033 (GRCm39)	Y78N	probably benign	Het
Slfn8	G	T	11: 82,907,838 (GRCm39)	A235E	probably damaging	Het
Snap91	T	A	9: 86,707,094 (GRCm39)	D232V	possibly damaging	Het
Stap2	C	A	17: 56,309,914 (GRCm39)	S79I	probably damaging	Het
Stra6l	T	C	4: 45,884,602 (GRCm39)	V544A	probably damaging	Het
Syn2	T	C	6: 115,251,219 (GRCm39)		probably null	Het
Tctn1	G	A	5: 122,388,527 (GRCm39)	P284S	possibly damaging	Het
Terb2	G	A	2: 122,018,475 (GRCm39)	M77I	probably benign	Het
Trim80	G	T	11: 115,338,757 (GRCm39)	R529L	possibly damaging	Het
Washc2	T	C	6: 116,186,048 (GRCm39)	L86P	possibly damaging	Het
Zfp74	A	T	7: 29,631,845 (GRCm39)	F133Y	probably benign	Het
Zfp987	T	A	4: 146,060,752 (GRCm39)	N61K	probably benign	Het

Other mutations in Riok2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R7237:Riok2	UTSW	17	17,598,045 (GRCm39)	missense	probably damaging	1.00
R7398:Riok2	UTSW	17	17,607,501 (GRCm39)	missense	probably benign	0.00
R7430:Riok2	UTSW	17	17,607,802 (GRCm39)	missense	probably benign	0.36
R9217:Riok2	UTSW	17	17,598,057 (GRCm39)	missense	possibly damaging	0.88
Z1177:Riok2	UTSW	17	17,603,613 (GRCm39)	missense	probably damaging	1.00
Z1177:Riok2	UTSW	17	17,598,843 (GRCm39)	missense	probably damaging	1.00
Z1177:Riok2	UTSW	17	17,594,848 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- ATAAAGGATGGCGGCTTACC -3'
(R):5'- ATGATAATGGCACGACACAATC -3'

Sequencing Primer
(F):5'- TTTCGAAGTGACGGCATTAAGC -3'
(R):5'- TCCTCCCTTGACAGAATC -3'

Posted On

2022-11-14