Mutagenetix > Incidental Mutation

Incidental Mutation 'R0133:Ksr2'

21743

Institutional Source

Beutler Lab

Gene Symbol

Ksr2

Ensembl Gene

ENSMUSG00000061578

Gene Name

kinase suppressor of ras 2

Synonyms

MMRRC Submission

038418-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R0133 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

117552067-117906061 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 117693359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 269 (V269G)

Ref Sequence

ENSEMBL: ENSMUSP00000137670 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000180430]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000073347

Predicted Effect

possibly damaging
Transcript: ENSMUST00000180430
AA Change: V269G

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000137670
Gene: ENSMUSG00000061578
AA Change: V269G

Domain	Start	End	E-Value	Type
Pfam:KSR1-SAM	24	152	1.1e-45	PFAM
low complexity region	258	282	N/A	INTRINSIC
low complexity region	326	341	N/A	INTRINSIC
low complexity region	357	368	N/A	INTRINSIC
C1	412	457	2.74e-8	SMART
low complexity region	518	551	N/A	INTRINSIC
low complexity region	617	637	N/A	INTRINSIC
Pfam:Pkinase	667	929	1.1e-41	PFAM
Pfam:Pkinase_Tyr	667	929	1.8e-46	PFAM

Meta Mutation Damage Score

0.0734

Coding Region Coverage

1x: 98.8%
3x: 97.9%
10x: 95.2%
20x: 89.4%

Validation Efficiency

99% (83/84)

MGI Phenotype

PHENOTYPE: Homozygous mice exhibit increased body fat and obesity, resulting from hyperphagia. Mice are also glucose intolerant and have high serum cholesterol, ALT, serum lipids and show hepatic steatosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd4	T	C	11: 102,996,214 (GRCm39)	S172P	probably damaging	Het
Akap6	A	T	12: 53,186,254 (GRCm39)	K1223*	probably null	Het
Akna	G	A	4: 63,297,598 (GRCm39)	Q819*	probably null	Het
Ankrd2	T	C	19: 42,032,510 (GRCm39)	V257A	probably benign	Het
Arap1	T	A	7: 101,035,436 (GRCm39)	D30E	probably damaging	Het
Atp6v0d2	T	C	4: 19,910,578 (GRCm39)		probably benign	Het
Blm	T	A	7: 80,152,115 (GRCm39)	I611F	possibly damaging	Het
Ccng2	A	G	5: 93,421,240 (GRCm39)	K250R	probably benign	Het
Cdhr3	A	G	12: 33,142,751 (GRCm39)	L8P	possibly damaging	Het
Csf2rb	T	G	15: 78,223,204 (GRCm39)		probably benign	Het
Ctbs	A	G	3: 146,163,223 (GRCm39)	I204V	probably benign	Het
Cxcl16	T	A	11: 70,349,596 (GRCm39)	E76D	possibly damaging	Het
Dhx15	T	C	5: 52,311,414 (GRCm39)	I689V	possibly damaging	Het
Dlk2	T	C	17: 46,609,868 (GRCm39)		probably benign	Het
Dnah2	A	T	11: 69,311,835 (GRCm39)	M4452K	probably damaging	Het
Dok4	T	A	8: 95,591,991 (GRCm39)	I280F	probably benign	Het
Dsc3	T	C	18: 20,104,639 (GRCm39)	T563A	probably damaging	Het
Dsg1b	C	T	18: 20,537,935 (GRCm39)	A617V	probably damaging	Het
Eps8l2	C	T	7: 140,942,120 (GRCm39)	P721S	unknown	Het
Evx2	T	C	2: 74,489,426 (GRCm39)	D112G	possibly damaging	Het
Fam124a	C	A	14: 62,843,782 (GRCm39)	T430K	possibly damaging	Het
Fbrs	C	T	7: 127,088,782 (GRCm39)		probably benign	Het
Fbxw14	T	C	9: 109,103,647 (GRCm39)	T22A	probably benign	Het
Fmo5	T	G	3: 97,552,952 (GRCm39)	V300G	probably damaging	Het
Gadl1	T	C	9: 115,770,411 (GRCm39)	S75P	probably benign	Het
Galnt2	T	G	8: 125,065,277 (GRCm39)	I469S	probably benign	Het
Gga3	T	A	11: 115,479,805 (GRCm39)		probably benign	Het
Gm10647	T	C	9: 66,705,771 (GRCm39)		probably benign	Het
Gm14180	C	A	11: 99,625,043 (GRCm39)	C25F	unknown	Het
Grid2	A	T	6: 64,297,116 (GRCm39)	D493V	probably damaging	Het
Gzmc	T	A	14: 56,469,754 (GRCm39)	Y182F	possibly damaging	Het
Hecw2	A	C	1: 53,869,899 (GRCm39)	L1443R	probably damaging	Het
Igkv4-62	A	G	6: 69,377,053 (GRCm39)	I32T	probably benign	Het
Ikzf1	T	A	11: 11,691,015 (GRCm39)		probably null	Het
Il27ra	G	A	8: 84,760,571 (GRCm39)		probably benign	Het
Jmjd1c	C	A	10: 67,076,587 (GRCm39)	A2137D	probably benign	Het
Kcnc2	T	C	10: 112,294,502 (GRCm39)	C579R	probably damaging	Het
Kdr	T	C	5: 76,112,498 (GRCm39)	T862A	probably damaging	Het
Kif17	T	C	4: 138,005,556 (GRCm39)	S182P	possibly damaging	Het
Klf5	A	T	14: 99,539,318 (GRCm39)	T164S	probably benign	Het
Mcm5	T	A	8: 75,847,539 (GRCm39)	D445E	probably damaging	Het
Mlkl	T	C	8: 112,054,580 (GRCm39)	I186V	probably damaging	Het
Muc4	A	T	16: 32,591,978 (GRCm39)	S3017C	possibly damaging	Het
Myo15a	T	C	11: 60,368,676 (GRCm39)	F479L	possibly damaging	Het
Myo6	A	G	9: 80,181,257 (GRCm39)		probably benign	Het
Myom1	T	A	17: 71,354,782 (GRCm39)	V393E	probably damaging	Het
Nup98	T	A	7: 101,788,859 (GRCm39)		probably null	Het
Odf2l	A	G	3: 144,854,302 (GRCm39)	N383S	probably damaging	Het
Olfml3	A	C	3: 103,644,342 (GRCm39)		probably null	Het
Or10q1	T	A	19: 13,727,352 (GRCm39)	I294N	probably damaging	Het
Or7g17	G	A	9: 18,767,925 (GRCm39)	M1I	probably null	Het
Or8g18	A	G	9: 39,149,307 (GRCm39)	Y141H	probably benign	Het
Or8j3b	A	T	2: 86,205,159 (GRCm39)	V199E	possibly damaging	Het
Plxna4	A	T	6: 32,174,009 (GRCm39)	D1195E	probably benign	Het
Ppp1r1a	T	A	15: 103,446,247 (GRCm39)	H20L	probably damaging	Het
Prdm4	A	G	10: 85,746,085 (GRCm39)		probably null	Het
Prom2	A	G	2: 127,380,258 (GRCm39)		probably benign	Het
Rasal3	T	C	17: 32,622,357 (GRCm39)	M1V	probably null	Het
Rhoj	A	G	12: 75,441,194 (GRCm39)		probably null	Het
Rnf40	C	T	7: 127,196,032 (GRCm39)		probably null	Het
Slc15a3	T	C	19: 10,820,614 (GRCm39)	L77P	probably damaging	Het
Slc26a6	T	C	9: 108,738,522 (GRCm39)	V586A	possibly damaging	Het
Slc30a10	T	A	1: 185,187,370 (GRCm39)	L37Q	probably damaging	Het
Slc43a2	T	A	11: 75,454,403 (GRCm39)	M316K	probably benign	Het
Smarcal1	T	C	1: 72,672,010 (GRCm39)	F844L	probably benign	Het
Snx19	A	G	9: 30,339,912 (GRCm39)	E350G	possibly damaging	Het
Tecta	T	A	9: 42,278,524 (GRCm39)	T995S	probably benign	Het
Tmc3	T	G	7: 83,261,681 (GRCm39)	N586K	probably damaging	Het
Tmem107	T	A	11: 68,963,239 (GRCm39)		probably benign	Het
Tmem247	A	G	17: 87,225,989 (GRCm39)	Q51R	probably benign	Het
Tmpo	G	T	10: 90,999,900 (GRCm39)		probably benign	Het
Ubr5	T	A	15: 37,996,815 (GRCm39)	T1894S	probably damaging	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Xirp2	T	A	2: 67,347,468 (GRCm39)	H3236Q	probably benign	Het
Zfand4	G	A	6: 116,291,700 (GRCm39)	D545N	probably benign	Het
Zkscan3	G	T	13: 21,578,944 (GRCm39)	P155T	possibly damaging	Het

Other mutations in Ksr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02136:Ksr2	APN	5	117,754,959 (GRCm39)	missense	possibly damaging	0.52
IGL02231:Ksr2	APN	5	117,638,841 (GRCm39)	missense	probably damaging	1.00
IGL02634:Ksr2	APN	5	117,901,394 (GRCm39)	splice site	probably benign
IGL02669:Ksr2	APN	5	117,693,446 (GRCm39)	missense	probably damaging	1.00
IGL03116:Ksr2	APN	5	117,846,022 (GRCm39)	missense	probably benign	0.20
IGL03168:Ksr2	APN	5	117,886,846 (GRCm39)	missense	probably damaging	1.00
IGL03372:Ksr2	APN	5	117,840,783 (GRCm39)	missense	possibly damaging	0.93
float	UTSW	5	117,809,523 (GRCm39)	missense	probably damaging	1.00
gigante	UTSW	5	117,809,514 (GRCm39)	missense	probably damaging	0.99
loft	UTSW	5	117,638,857 (GRCm39)	missense	probably benign	0.10
R0811:Ksr2	UTSW	5	117,693,290 (GRCm39)	missense	probably damaging	1.00
R0812:Ksr2	UTSW	5	117,693,290 (GRCm39)	missense	probably damaging	1.00
R1162:Ksr2	UTSW	5	117,693,020 (GRCm39)	splice site	probably benign
R1420:Ksr2	UTSW	5	117,552,904 (GRCm39)	missense	probably benign	0.10
R1717:Ksr2	UTSW	5	117,809,514 (GRCm39)	missense	probably damaging	0.99
R1809:Ksr2	UTSW	5	117,693,535 (GRCm39)	missense	probably damaging	1.00
R1859:Ksr2	UTSW	5	117,553,006 (GRCm39)	missense	probably damaging	1.00
R1867:Ksr2	UTSW	5	117,643,594 (GRCm39)	missense	probably benign	0.32
R1868:Ksr2	UTSW	5	117,643,594 (GRCm39)	missense	probably benign	0.32
R3024:Ksr2	UTSW	5	117,693,125 (GRCm39)	missense	possibly damaging	0.52
R3499:Ksr2	UTSW	5	117,827,640 (GRCm39)	missense	probably damaging	1.00
R3687:Ksr2	UTSW	5	117,693,044 (GRCm39)	missense	probably damaging	0.98
R3688:Ksr2	UTSW	5	117,693,044 (GRCm39)	missense	probably damaging	0.98
R4044:Ksr2	UTSW	5	117,693,127 (GRCm39)	nonsense	probably null
R4579:Ksr2	UTSW	5	117,894,335 (GRCm39)	missense	probably damaging	0.99
R4697:Ksr2	UTSW	5	117,846,212 (GRCm39)	missense	probably damaging	1.00
R4834:Ksr2	UTSW	5	117,806,392 (GRCm39)	missense	probably benign	0.37
R5016:Ksr2	UTSW	5	117,638,857 (GRCm39)	missense	probably benign	0.10
R5107:Ksr2	UTSW	5	117,827,673 (GRCm39)	missense	probably benign	0.01
R5150:Ksr2	UTSW	5	117,693,074 (GRCm39)	missense	probably damaging	0.97
R5326:Ksr2	UTSW	5	117,846,305 (GRCm39)	missense	probably damaging	1.00
R5493:Ksr2	UTSW	5	117,846,175 (GRCm39)	missense	probably damaging	1.00
R5738:Ksr2	UTSW	5	117,886,864 (GRCm39)	missense	probably damaging	0.97
R6257:Ksr2	UTSW	5	117,552,909 (GRCm39)	missense	probably benign	0.01
R6316:Ksr2	UTSW	5	117,823,567 (GRCm39)	missense	probably damaging	1.00
R6389:Ksr2	UTSW	5	117,552,907 (GRCm39)	missense	probably benign	0.09
R6460:Ksr2	UTSW	5	117,894,449 (GRCm39)	critical splice donor site	probably null
R6874:Ksr2	UTSW	5	117,894,401 (GRCm39)	nonsense	probably null
R6939:Ksr2	UTSW	5	117,903,626 (GRCm39)	makesense	probably null
R7352:Ksr2	UTSW	5	117,827,706 (GRCm39)	missense	probably benign	0.00
R7594:Ksr2	UTSW	5	117,693,131 (GRCm39)	missense	possibly damaging	0.89
R7840:Ksr2	UTSW	5	117,693,329 (GRCm39)	missense	probably benign	0.00
R7919:Ksr2	UTSW	5	117,899,418 (GRCm39)	missense	possibly damaging	0.86
R8152:Ksr2	UTSW	5	117,809,523 (GRCm39)	missense	probably damaging	1.00
R8949:Ksr2	UTSW	5	117,823,560 (GRCm39)	missense	possibly damaging	0.68
R9133:Ksr2	UTSW	5	117,841,319 (GRCm39)	missense	probably benign	0.02
R9299:Ksr2	UTSW	5	117,885,399 (GRCm39)	critical splice acceptor site	probably null
R9356:Ksr2	UTSW	5	117,827,706 (GRCm39)	missense	probably benign	0.40
R9592:Ksr2	UTSW	5	117,894,344 (GRCm39)	missense	probably damaging	1.00
R9658:Ksr2	UTSW	5	117,885,425 (GRCm39)	missense	probably damaging	1.00
RF020:Ksr2	UTSW	5	117,693,283 (GRCm39)	missense	probably benign
Z1088:Ksr2	UTSW	5	117,885,467 (GRCm39)	missense	probably damaging	1.00
Z1177:Ksr2	UTSW	5	117,885,473 (GRCm39)	missense	probably damaging	0.99
Z1177:Ksr2	UTSW	5	117,846,265 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATCTTTGCCTACAGCGACCCTAC -3'
(R):5'- ACAAGACTGTCTGCTCCCGACTTC -3'

Sequencing Primer
(F):5'- GTTCCTACTCAGGAGGGAATC -3'
(R):5'- ACTTCCCCAGAGGAGTGTG -3'

Posted On

2013-04-12