Mutagenetix > Incidental Mutation

Incidental Mutation 'R0893:Rps6ka5'

83610

Institutional Source

Beutler Lab

Gene Symbol

Rps6ka5

Ensembl Gene

ENSMUSG00000021180

Gene Name

ribosomal protein S6 kinase, polypeptide 5

Synonyms

3110005L17Rik, MSK1, 6330404E13Rik

MMRRC Submission

039056-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0893 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100514692-100691693 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100540697 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 488 (H488R)

Ref Sequence

ENSEMBL: ENSMUSP00000152481 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043599] [ENSMUST00000222731]

AlphaFold

Q8C050

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043599
AA Change: H488R

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000042987
Gene: ENSMUSG00000021180
AA Change: H488R

Domain	Start	End	E-Value	Type
low complexity region	2	22	N/A	INTRINSIC
S_TKc	48	317	1.08e-101	SMART
S_TK_X	318	378	2.45e-13	SMART
S_TKc	425	751	1.1e-75	SMART
low complexity region	812	832	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221246

Predicted Effect

unknown
Transcript: ENSMUST00000221356
AA Change: H64R

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221379

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222731
AA Change: H488R

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223531

Meta Mutation Damage Score

0.1391

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 95.1%

Validation Efficiency

99% (77/78)

MGI Phenotype

PHENOTYPE: Mice homozygous for a mutant allele exhibit altered response to cocaine including decreased hyperlocomotor activity and sensitization at a lower dose. Mice homozygous for a kinase dead allele exhibit altered experience-dependent synaptic plasticity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,266,082 (GRCm39)		probably benign	Het
Adnp	A	T	2: 168,025,647 (GRCm39)	F549L	possibly damaging	Het
Agl	A	G	3: 116,546,935 (GRCm39)	I1305T	probably benign	Het
Aldh8a1	T	A	10: 21,267,593 (GRCm39)	M326K	probably benign	Het
Amdhd1	A	T	10: 93,363,513 (GRCm39)	M295K	probably damaging	Het
Arhgef4	T	A	1: 34,846,191 (GRCm39)	C324S	probably damaging	Het
Car8	A	T	4: 8,238,119 (GRCm39)		probably null	Het
Cc2d1a	T	C	8: 84,867,468 (GRCm39)		probably benign	Het
Cd81	G	A	7: 142,616,242 (GRCm39)	V27M	possibly damaging	Het
Ces1b	A	T	8: 93,806,056 (GRCm39)	S62T	probably benign	Het
Cfb	A	G	17: 35,077,031 (GRCm39)	S30P	probably damaging	Het
Cmtm3	A	G	8: 105,070,543 (GRCm39)	M101V	possibly damaging	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Ddb1	C	T	19: 10,590,280 (GRCm39)	S269L	probably benign	Het
Ddx25	G	A	9: 35,465,686 (GRCm39)	Q143*	probably null	Het
Dis3l2	T	A	1: 86,971,928 (GRCm39)		probably null	Het
Dlgap4	G	T	2: 156,587,898 (GRCm39)	E598*	probably null	Het
Dus1l	C	T	11: 120,680,262 (GRCm39)	G471D	possibly damaging	Het
Elp4	C	A	2: 105,727,290 (GRCm39)		probably benign	Het
Eya3	A	G	4: 132,417,097 (GRCm39)	N194S	probably benign	Het
Golgb1	G	T	16: 36,732,639 (GRCm39)	V629L	possibly damaging	Het
Hars2	G	A	18: 36,920,648 (GRCm39)	A164T	possibly damaging	Het
Hexb	T	A	13: 97,322,135 (GRCm39)	I217L	probably benign	Het
Hgh1	A	G	15: 76,253,848 (GRCm39)		probably null	Het
Hsd3b3	A	T	3: 98,649,757 (GRCm39)		probably null	Het
Ighg2c	T	A	12: 113,251,053 (GRCm39)	N321Y	unknown	Het
Il5	A	G	11: 53,611,763 (GRCm39)	T34A	probably benign	Het
Jph1	C	A	1: 17,074,507 (GRCm39)	E504*	probably null	Het
Kif2b	G	T	11: 91,466,420 (GRCm39)	T621K	probably benign	Het
Kmt2c	A	T	5: 25,556,268 (GRCm39)		probably benign	Het
Leprotl1	A	G	8: 34,606,006 (GRCm39)		probably null	Het
Lpar3	C	T	3: 145,946,348 (GRCm39)	R9C	possibly damaging	Het
Map1a	A	G	2: 121,131,014 (GRCm39)	E372G	probably damaging	Het
Map2	C	A	1: 66,419,927 (GRCm39)	T86K	probably damaging	Het
Map7	A	G	10: 20,149,629 (GRCm39)		probably null	Het
Mdn1	T	C	4: 32,701,713 (GRCm39)	V1482A	probably benign	Het
Mks1	G	A	11: 87,747,777 (GRCm39)		probably benign	Het
Morf4l1	T	G	9: 89,984,403 (GRCm39)	K102N	probably damaging	Het
Mroh1	T	A	15: 76,293,138 (GRCm39)	V304D	possibly damaging	Het
Mtg1	G	A	7: 139,729,665 (GRCm39)	V252M	probably damaging	Het
Myh13	A	T	11: 67,225,427 (GRCm39)	D264V	probably damaging	Het
Myh2	A	G	11: 67,077,334 (GRCm39)	Y823C	possibly damaging	Het
Myoz1	A	T	14: 20,701,252 (GRCm39)	S112R	probably benign	Het
Ncapd2	A	G	6: 125,150,445 (GRCm39)	V860A	probably benign	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Npffr1	T	C	10: 61,450,010 (GRCm39)	F95L	possibly damaging	Het
Or51f1e	G	T	7: 102,747,641 (GRCm39)	R231L	probably benign	Het
Or8b9	T	C	9: 37,766,492 (GRCm39)	I126T	probably damaging	Het
Orc4	A	C	2: 48,822,622 (GRCm39)		probably benign	Het
P3h3	A	C	6: 124,822,476 (GRCm39)	I565R	probably damaging	Het
Pak4	T	C	7: 28,259,202 (GRCm39)	D552G	probably benign	Het
Pcdhb4	G	T	18: 37,442,423 (GRCm39)		probably null	Het
Pdcd4	G	T	19: 53,917,525 (GRCm39)	R454L	probably damaging	Het
Phf8-ps	T	C	17: 33,284,263 (GRCm39)	I846M	probably benign	Het
Pkd1l2	A	G	8: 117,771,231 (GRCm39)	I1116T	probably damaging	Het
Plcb2	A	G	2: 118,555,586 (GRCm39)		probably benign	Het
Pmpca	T	C	2: 26,283,230 (GRCm39)		probably benign	Het
Pnpla7	T	A	2: 24,887,252 (GRCm39)	I32N	probably damaging	Het
Prpf8	A	G	11: 75,384,775 (GRCm39)	K718E	probably damaging	Het
Racgap1	C	T	15: 99,524,411 (GRCm39)	A359T	probably benign	Het
Rgs3	G	A	4: 62,523,798 (GRCm39)		probably null	Het
Rhpn1	A	G	15: 75,583,503 (GRCm39)	E356G	probably damaging	Het
Scn11a	A	G	9: 119,632,396 (GRCm39)		probably null	Het
Sema4f	A	T	6: 82,912,948 (GRCm39)		probably benign	Het
Serpina1f	A	G	12: 103,660,094 (GRCm39)	S63P	probably damaging	Het
Slc9a3	T	C	13: 74,307,365 (GRCm39)	W386R	probably damaging	Het
Slc9b1	A	C	3: 135,100,651 (GRCm39)	L465F	probably benign	Het
Smc5	A	G	19: 23,241,017 (GRCm39)	V165A	possibly damaging	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tinagl1	G	T	4: 130,067,816 (GRCm39)	D59E	probably damaging	Het
Tns3	A	G	11: 8,443,302 (GRCm39)	Y354H	probably damaging	Het
Trappc9	C	T	15: 72,461,956 (GRCm39)	G1103D	probably damaging	Het
Unc79	A	T	12: 102,957,687 (GRCm39)	D34V	probably damaging	Het
Unc80	T	C	1: 66,560,645 (GRCm39)	L791P	probably damaging	Het
Unc93a2	A	G	17: 7,641,926 (GRCm39)	L174P	probably damaging	Het
Xpo7	G	T	14: 70,903,537 (GRCm39)		probably benign	Het
Zbtb1	T	A	12: 76,432,113 (GRCm39)	I33N	probably damaging	Het

Other mutations in Rps6ka5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01072:Rps6ka5	APN	12	100,540,157 (GRCm39)	missense	probably benign
IGL01450:Rps6ka5	APN	12	100,519,250 (GRCm39)	splice site	probably benign
IGL01586:Rps6ka5	APN	12	100,537,173 (GRCm39)	missense	probably damaging	0.99
IGL01743:Rps6ka5	APN	12	100,541,892 (GRCm39)	critical splice donor site	probably null
IGL02995:Rps6ka5	APN	12	100,540,258 (GRCm39)	intron	probably benign
IGL03051:Rps6ka5	APN	12	100,582,250 (GRCm39)	splice site	probably null
IGL03190:Rps6ka5	APN	12	100,524,907 (GRCm39)	splice site	probably benign
chard	UTSW	12	100,582,342 (GRCm39)	missense	probably damaging	1.00
Ramp	UTSW	12	100,541,964 (GRCm39)	missense	possibly damaging	0.85
zwiebel	UTSW	12	100,644,797 (GRCm39)	missense	probably damaging	0.99
R0055:Rps6ka5	UTSW	12	100,644,839 (GRCm39)	missense	probably damaging	0.97
R0055:Rps6ka5	UTSW	12	100,644,839 (GRCm39)	missense	probably damaging	0.97
R0067:Rps6ka5	UTSW	12	100,582,342 (GRCm39)	missense	probably damaging	1.00
R0212:Rps6ka5	UTSW	12	100,519,428 (GRCm39)	splice site	probably null
R0761:Rps6ka5	UTSW	12	100,537,141 (GRCm39)	missense	probably damaging	1.00
R1237:Rps6ka5	UTSW	12	100,541,964 (GRCm39)	missense	possibly damaging	0.85
R1254:Rps6ka5	UTSW	12	100,585,788 (GRCm39)	missense	probably damaging	1.00
R1447:Rps6ka5	UTSW	12	100,544,084 (GRCm39)	missense	probably benign	0.02
R1611:Rps6ka5	UTSW	12	100,537,111 (GRCm39)	missense	possibly damaging	0.77
R2086:Rps6ka5	UTSW	12	100,585,874 (GRCm39)	missense	possibly damaging	0.67
R2129:Rps6ka5	UTSW	12	100,644,797 (GRCm39)	missense	probably damaging	0.99
R2298:Rps6ka5	UTSW	12	100,517,713 (GRCm39)	missense	probably damaging	0.99
R2432:Rps6ka5	UTSW	12	100,520,664 (GRCm39)	missense	probably damaging	0.98
R4378:Rps6ka5	UTSW	12	100,564,196 (GRCm39)	missense	probably damaging	1.00
R4394:Rps6ka5	UTSW	12	100,547,578 (GRCm39)	missense	probably damaging	0.97
R4461:Rps6ka5	UTSW	12	100,537,123 (GRCm39)	missense	probably damaging	0.99
R4584:Rps6ka5	UTSW	12	100,547,577 (GRCm39)	missense	probably damaging	1.00
R4672:Rps6ka5	UTSW	12	100,620,546 (GRCm39)	missense	possibly damaging	0.93
R4706:Rps6ka5	UTSW	12	100,547,578 (GRCm39)	missense	probably damaging	0.97
R4706:Rps6ka5	UTSW	12	100,564,144 (GRCm39)	splice site	probably null
R4707:Rps6ka5	UTSW	12	100,564,144 (GRCm39)	splice site	probably null
R4966:Rps6ka5	UTSW	12	100,519,325 (GRCm39)	missense	probably benign	0.01
R5059:Rps6ka5	UTSW	12	100,520,634 (GRCm39)	missense	probably damaging	0.96
R5404:Rps6ka5	UTSW	12	100,582,352 (GRCm39)	missense	probably damaging	1.00
R5660:Rps6ka5	UTSW	12	100,585,839 (GRCm39)	missense	possibly damaging	0.95
R5678:Rps6ka5	UTSW	12	100,691,135 (GRCm39)	missense	unknown
R5992:Rps6ka5	UTSW	12	100,541,509 (GRCm39)	missense	possibly damaging	0.68
R6104:Rps6ka5	UTSW	12	100,519,407 (GRCm39)	missense	possibly damaging	0.84
R6163:Rps6ka5	UTSW	12	100,562,179 (GRCm39)	critical splice acceptor site	probably null
R6390:Rps6ka5	UTSW	12	100,537,251 (GRCm39)	missense	probably damaging	0.99
R6599:Rps6ka5	UTSW	12	100,564,168 (GRCm39)	missense	probably damaging	1.00
R6653:Rps6ka5	UTSW	12	100,517,795 (GRCm39)	missense	probably damaging	1.00
R6693:Rps6ka5	UTSW	12	100,540,088 (GRCm39)	missense	probably benign	0.11
R7009:Rps6ka5	UTSW	12	100,585,796 (GRCm39)	missense	probably damaging	1.00
R7157:Rps6ka5	UTSW	12	100,547,679 (GRCm39)	missense	probably damaging	1.00
R7196:Rps6ka5	UTSW	12	100,562,123 (GRCm39)	missense	possibly damaging	0.77
R7510:Rps6ka5	UTSW	12	100,582,327 (GRCm39)	missense	possibly damaging	0.56
R7565:Rps6ka5	UTSW	12	100,582,342 (GRCm39)	missense	probably damaging	1.00
R7800:Rps6ka5	UTSW	12	100,524,824 (GRCm39)	missense	probably damaging	0.97
R7843:Rps6ka5	UTSW	12	100,519,408 (GRCm39)	missense	possibly damaging	0.92
R8009:Rps6ka5	UTSW	12	100,544,048 (GRCm39)	missense	probably damaging	0.97
R8057:Rps6ka5	UTSW	12	100,540,055 (GRCm39)	critical splice donor site	probably null
R8292:Rps6ka5	UTSW	12	100,644,791 (GRCm39)	missense	possibly damaging	0.83
R8324:Rps6ka5	UTSW	12	100,524,746 (GRCm39)	missense	possibly damaging	0.92
R8428:Rps6ka5	UTSW	12	100,541,500 (GRCm39)	nonsense	probably null
R8913:Rps6ka5	UTSW	12	100,520,595 (GRCm39)	missense
R9711:Rps6ka5	UTSW	12	100,540,250 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGCAATCTGTGACAGTGGCACGAG -3'
(R):5'- AGCAAGCTTCCTGATGGCTTTAAGAAC -3'

Sequencing Primer
(F):5'- TGTATCCACCCATGCCAAGATG -3'
(R):5'- GAGACTTTGACACAGGCATTC -3'

Posted On

2013-11-08