Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02231:Ksr2'

285692

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ksr2

Ensembl Gene

ENSMUSG00000061578

Gene Name

kinase suppressor of ras 2

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

IGL02231

Quality Score

Status

Chromosome

Chromosomal Location

117414000-117775003 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 117500776 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 82 (R82C)

Ref Sequence

ENSEMBL: ENSMUSP00000137670 (fasta)

Gene Model

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000073347

Predicted Effect

probably damaging
Transcript: ENSMUST00000180430
AA Change: R82C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137670
Gene: ENSMUSG00000061578
AA Change: R82C

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

Coding Region Coverage

Validation Efficiency

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	G	A	11: 78,279,896	G1647D	probably benign	Het
Alcam	T	A	16: 52,274,050		probably benign	Het
Alox15	A	C	11: 70,349,556	D266E	probably benign	Het
Atcay	A	T	10: 81,210,548	V314E	probably damaging	Het
Atp8b1	C	T	18: 64,550,384	G758R	possibly damaging	Het
Cacna2d4	T	A	6: 119,277,908		probably benign	Het
Celsr3	T	C	9: 108,842,510	V2429A	probably damaging	Het
Clspn	T	G	4: 126,559,228	D11E	probably damaging	Het
Cnot3	A	G	7: 3,658,210	T573A	probably benign	Het
Cyp2d34	A	T	15: 82,618,606	S140T	probably benign	Het
Edem1	A	G	6: 108,828,888	D50G	probably benign	Het
Emilin3	G	A	2: 160,908,515	T438I	probably damaging	Het
Etfdh	C	T	3: 79,618,393	V173I	probably damaging	Het
Fat2	T	C	11: 55,281,092	T2932A	probably damaging	Het
Fcrl1	G	A	3: 87,385,162	E154K	possibly damaging	Het
Fcrl1	A	T	3: 87,385,163	E154V	probably damaging	Het
G3bp1	T	A	11: 55,495,447	L244*	probably null	Het
Itgae	A	T	11: 73,090,622	K2M	possibly damaging	Het
Kcnq2	T	C	2: 181,081,715	I654V	probably benign	Het
Lrig3	A	T	10: 125,997,172	D305V	probably damaging	Het
Me1	T	C	9: 86,611,855	K322E	possibly damaging	Het
Med12l	T	A	3: 59,245,882	D1109E	probably damaging	Het
Mest	A	G	6: 30,740,773	K73E	possibly damaging	Het
Nup155	T	G	15: 8,144,064	L881R	probably damaging	Het
Ocln	A	T	13: 100,541,114	S2T	probably damaging	Het
Oosp3	T	C	19: 11,699,439	L54S	probably damaging	Het
Pkp3	G	A	7: 141,084,238	E443K	probably damaging	Het
Plk2	T	A	13: 110,400,069	C632S	probably benign	Het
Ptk6	C	T	2: 181,197,001	V320I	probably damaging	Het
Ptprt	A	T	2: 162,238,060	I273N	probably damaging	Het
Ptprt	A	G	2: 162,278,046		probably null	Het
Rab3gap2	T	C	1: 185,266,898		probably benign	Het
Rabgef1	G	A	5: 130,211,975	A312T	probably damaging	Het
Rabl6	T	A	2: 25,598,184	K109N	probably benign	Het
Rbp7	C	T	4: 149,454,877		probably null	Het
Reg3a	C	T	6: 78,382,241	H75Y	possibly damaging	Het
Rnf123	G	T	9: 108,066,399	P546T	probably benign	Het
Rnmt	C	A	18: 68,314,081	C345*	probably null	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Slc14a2	C	T	18: 78,209,021	S25N	possibly damaging	Het
Spata16	G	T	3: 26,913,264	G388W	probably damaging	Het
Speg	C	T	1: 75,423,387	R2493W	probably damaging	Het
Thada	T	A	17: 84,428,697	D970V	probably damaging	Het
Tmem184c	A	G	8: 77,604,812	Y103H	probably damaging	Het
Ttn	A	T	2: 76,798,096	D12827E	probably damaging	Het
Utp20	A	G	10: 88,791,168	L976S	probably damaging	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het
Zfp936	T	A	7: 43,187,485		probably null	Het

Other mutations in Ksr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02136:Ksr2	APN	5	117616894	missense	possibly damaging	0.52
IGL02634:Ksr2	APN	5	117763329	splice site	probably benign
IGL02669:Ksr2	APN	5	117555381	missense	probably damaging	1.00
IGL03116:Ksr2	APN	5	117707957	missense	probably benign	0.20
IGL03168:Ksr2	APN	5	117748781	missense	probably damaging	1.00
IGL03372:Ksr2	APN	5	117702718	missense	possibly damaging	0.93
gigante	UTSW	5	117671449	missense	probably damaging	0.99
R0133:Ksr2	UTSW	5	117555294	missense	possibly damaging	0.95
R0811:Ksr2	UTSW	5	117555225	missense	probably damaging	1.00
R0812:Ksr2	UTSW	5	117555225	missense	probably damaging	1.00
R1162:Ksr2	UTSW	5	117554955	splice site	probably benign
R1420:Ksr2	UTSW	5	117414839	missense	probably benign	0.10
R1717:Ksr2	UTSW	5	117671449	missense	probably damaging	0.99
R1809:Ksr2	UTSW	5	117555470	missense	probably damaging	1.00
R1859:Ksr2	UTSW	5	117414941	missense	probably damaging	1.00
R1867:Ksr2	UTSW	5	117505529	missense	probably benign	0.32
R1868:Ksr2	UTSW	5	117505529	missense	probably benign	0.32
R3024:Ksr2	UTSW	5	117555060	missense	possibly damaging	0.52
R3499:Ksr2	UTSW	5	117689575	missense	probably damaging	1.00
R3687:Ksr2	UTSW	5	117554979	missense	probably damaging	0.98
R3688:Ksr2	UTSW	5	117554979	missense	probably damaging	0.98
R4044:Ksr2	UTSW	5	117555062	nonsense	probably null
R4579:Ksr2	UTSW	5	117756270	missense	probably damaging	0.99
R4697:Ksr2	UTSW	5	117708147	missense	probably damaging	1.00
R4834:Ksr2	UTSW	5	117668327	missense	probably benign	0.37
R5016:Ksr2	UTSW	5	117500792	missense	probably benign	0.10
R5107:Ksr2	UTSW	5	117689608	missense	probably benign	0.01
R5150:Ksr2	UTSW	5	117555009	missense	probably damaging	0.97
R5326:Ksr2	UTSW	5	117708240	missense	probably damaging	1.00
R5493:Ksr2	UTSW	5	117708110	missense	probably damaging	1.00
R5738:Ksr2	UTSW	5	117748799	missense	probably damaging	0.97
R6257:Ksr2	UTSW	5	117414844	missense	probably benign	0.01
R6316:Ksr2	UTSW	5	117685502	missense	probably damaging	1.00
R6389:Ksr2	UTSW	5	117414842	missense	probably benign	0.09
R6460:Ksr2	UTSW	5	117756384	critical splice donor site	probably null
R6874:Ksr2	UTSW	5	117756336	nonsense	probably null
R6939:Ksr2	UTSW	5	117765561	makesense	probably null
R7352:Ksr2	UTSW	5	117689641	missense	probably benign	0.00
R7594:Ksr2	UTSW	5	117555066	missense	possibly damaging	0.89
Z1088:Ksr2	UTSW	5	117747402	missense	probably damaging	1.00

Posted On

2015-04-16