Mutagenetix > Incidental Mutation

Incidental Mutation 'R1695:Limk2'

192145

Institutional Source

Beutler Lab

Gene Symbol

Limk2

Ensembl Gene

ENSMUSG00000020451

Gene Name

LIM domain kinase 2

Synonyms

whe, Limk2b, Limk2a, A930024P04Rik, LIM kinase 2

MMRRC Submission

039728-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R1695 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3294256-3359189 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 3303275 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105656 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101638] [ENSMUST00000101640] [ENSMUST00000101642] [ENSMUST00000110029]

AlphaFold

O54785

Predicted Effect

probably null
Transcript: ENSMUST00000101638

SMART Domains

Protein: ENSMUSP00000099162
Gene: ENSMUSG00000020451

Domain	Start	End	E-Value	Type
LIM	11	63	2e-14	SMART
LIM	71	124	4.63e-10	SMART
PDZ	161	239	7.04e-10	SMART
low complexity region	241	255	N/A	INTRINSIC
low complexity region	280	306	N/A	INTRINSIC
low complexity region	310	322	N/A	INTRINSIC
Pfam:Pkinase	331	600	5.3e-48	PFAM
Pfam:Pkinase_Tyr	331	601	4.7e-50	PFAM
Pfam:Kdo	341	497	8.6e-7	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000101640

SMART Domains

Protein: ENSMUSP00000099163
Gene: ENSMUSG00000020451

Domain	Start	End	E-Value	Type
LIM	7	42	4.91e-1	SMART
LIM	50	103	4.63e-10	SMART
PDZ	140	218	7.04e-10	SMART
low complexity region	220	234	N/A	INTRINSIC
low complexity region	259	285	N/A	INTRINSIC
low complexity region	289	301	N/A	INTRINSIC
Pfam:Pkinase	310	582	1.2e-45	PFAM
Pfam:Pkinase_Tyr	310	586	1.3e-51	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000101642

SMART Domains

Protein: ENSMUSP00000099165
Gene: ENSMUSG00000020451

Domain	Start	End	E-Value	Type
LIM	7	42	4.91e-1	SMART
LIM	50	103	4.63e-10	SMART
PDZ	140	218	7.04e-10	SMART
low complexity region	220	234	N/A	INTRINSIC
low complexity region	259	285	N/A	INTRINSIC
low complexity region	289	301	N/A	INTRINSIC
Pfam:Pkinase	310	579	4.9e-48	PFAM
Pfam:Pkinase_Tyr	310	580	4.3e-50	PFAM
Pfam:Kdo	320	476	8.2e-7	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000110029

SMART Domains

Protein: ENSMUSP00000105656
Gene: ENSMUSG00000020451

Domain	Start	End	E-Value	Type
PDZ	1	52	4.55e-1	SMART
low complexity region	54	68	N/A	INTRINSIC
low complexity region	93	119	N/A	INTRINSIC
low complexity region	123	135	N/A	INTRINSIC
Pfam:Pkinase	144	411	2.7e-49	PFAM
Pfam:Pkinase_Tyr	144	414	1.7e-51	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123689

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125832

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132479

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134576

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148771

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142322

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142926

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148091

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] There are approximately 40 known eukaryotic LIM proteins, so named for the LIM domains they contain. LIM domains are highly conserved cysteine-rich structures containing 2 zinc fingers. Although zinc fingers usually function by binding to DNA or RNA, the LIM motif probably mediates protein-protein interactions. LIM kinase-1 and LIM kinase-2 belong to a small subfamily with a unique combination of 2 N-terminal LIM motifs and a C-terminal protein kinase domain. The protein encoded by this gene is phosphorylated and activated by ROCK, a downstream effector of Rho, and the encoded protein, in turn, phosphorylates cofilin, inhibiting its actin-depolymerizing activity. It is thought that this pathway contributes to Rho-induced reorganization of the actin cytoskeleton. At least three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Male homozygotes for targeted null mutations exhibit small testes but are fertile. Mutant kidneys have fewer glomeruli and dilated renal tubules, but function normally. Mice homozygous for a gene trap allele or spontaneous mutation have open eyelids at birth, corneal abnormalities and inflammation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	T	A	5: 121,638,970 (GRCm39)	T692S	probably benign	Het
Adgrf3	T	A	5: 30,408,553 (GRCm39)	N75I	probably benign	Het
Adgrg5	A	G	8: 95,664,373 (GRCm39)	M328V	probably damaging	Het
Adk	A	G	14: 21,431,668 (GRCm39)	D286G	probably benign	Het
Ankrd28	T	A	14: 31,429,201 (GRCm39)	D917V	probably damaging	Het
Appl2	C	T	10: 83,457,446 (GRCm39)	D141N	probably damaging	Het
Arfgef2	T	C	2: 166,706,632 (GRCm39)	V952A	probably damaging	Het
Arpc2	T	A	1: 74,287,391 (GRCm39)	H70Q	probably damaging	Het
Bpifa5	T	C	2: 154,009,580 (GRCm39)	L261P	probably damaging	Het
Brca1	G	T	11: 101,415,281 (GRCm39)	T951K	probably damaging	Het
Ccdc73	A	T	2: 104,822,450 (GRCm39)	S800C	probably damaging	Het
Cdh15	C	G	8: 123,588,755 (GRCm39)	D276E	probably benign	Het
Cfap119	A	G	7: 127,186,745 (GRCm39)		probably null	Het
Cfap418	T	A	4: 10,874,644 (GRCm39)	D10E	probably damaging	Het
Cfh	T	C	1: 140,030,575 (GRCm39)	I551V	probably damaging	Het
Chd7	T	A	4: 8,833,960 (GRCm39)	L1238Q	probably damaging	Het
Chd9	T	G	8: 91,728,410 (GRCm39)	F1275L	probably damaging	Het
Chrnb3	A	G	8: 27,883,728 (GRCm39)	Y155C	probably damaging	Het
Cltc	C	A	11: 86,591,886 (GRCm39)		probably null	Het
Ctsll3	T	A	13: 60,948,791 (GRCm39)	N55Y	probably damaging	Het
Cysltr2	T	C	14: 73,267,321 (GRCm39)	M130V	probably benign	Het
Daglb	T	C	5: 143,480,361 (GRCm39)	M455T	probably benign	Het
Dbn1	A	G	13: 55,624,521 (GRCm39)	S343P	probably benign	Het
Dnah2	T	A	11: 69,405,517 (GRCm39)	D665V	possibly damaging	Het
Dusp6	T	A	10: 99,099,555 (GRCm39)	M1K	probably null	Het
Eif3m	T	C	2: 104,847,298 (GRCm39)	E12G	probably damaging	Het
Epha2	T	C	4: 141,033,828 (GRCm39)	V29A	possibly damaging	Het
Farp2	T	A	1: 93,488,047 (GRCm39)	N91K	probably damaging	Het
Ferd3l	C	A	12: 33,978,971 (GRCm39)	S161R	probably benign	Het
Fgd2	A	T	17: 29,587,219 (GRCm39)	D315V	possibly damaging	Het
Fhip2a	T	C	19: 57,367,603 (GRCm39)	W337R	probably damaging	Het
Fstl4	T	A	11: 53,056,705 (GRCm39)		probably null	Het
Grm5	A	G	7: 87,685,311 (GRCm39)	D476G	possibly damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Hdlbp	A	G	1: 93,364,922 (GRCm39)	L115P	probably damaging	Het
Hk2	T	A	6: 82,721,932 (GRCm39)	N136Y	probably damaging	Het
Hs2st1	G	T	3: 144,140,415 (GRCm39)	A302E	probably benign	Het
Htr7	T	C	19: 35,947,136 (GRCm39)	N293D	probably benign	Het
Ikbkb	T	A	8: 23,163,496 (GRCm39)	E271D	probably benign	Het
Il5ra	A	T	6: 106,715,335 (GRCm39)	Y166*	probably null	Het
Il9r	T	A	11: 32,143,227 (GRCm39)	H244L	probably benign	Het
Itih4	T	C	14: 30,613,456 (GRCm39)		probably null	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Large1	A	T	8: 73,544,710 (GRCm39)	D689E	probably damaging	Het
Med15	A	G	16: 17,540,644 (GRCm39)	F34S	probably damaging	Het
Mprip	C	T	11: 59,643,357 (GRCm39)	T505I	probably damaging	Het
Mtor	T	A	4: 148,623,364 (GRCm39)	N2071K	probably benign	Het
Muc16	A	G	9: 18,408,729 (GRCm39)	L2522P	probably damaging	Het
Myd88	A	T	9: 119,166,908 (GRCm39)		probably null	Het
Myo7a	A	C	7: 97,741,703 (GRCm39)	F484V	possibly damaging	Het
Nme1	A	C	11: 93,851,593 (GRCm39)	L81R	probably benign	Het
Ntn4	T	A	10: 93,569,464 (GRCm39)		probably null	Het
Or2y13	T	C	11: 49,415,162 (GRCm39)	V204A	probably benign	Het
Or4p19	T	C	2: 88,242,444 (GRCm39)	D186G	probably damaging	Het
Or51l4	A	T	7: 103,404,131 (GRCm39)	Y220*	probably null	Het
Otogl	T	G	10: 107,649,878 (GRCm39)	N1159T	probably damaging	Het
Pabpc6	G	A	17: 9,887,003 (GRCm39)	T516I	probably benign	Het
Pcdh1	C	T	18: 38,335,921 (GRCm39)	R238H	probably damaging	Het
Pex5l	T	A	3: 33,008,531 (GRCm39)	N151I	probably benign	Het
Plekha7	T	C	7: 115,727,920 (GRCm39)	N980S	probably damaging	Het
Reg4	C	T	3: 98,143,677 (GRCm39)	T157I	probably benign	Het
Rev3l	A	T	10: 39,700,612 (GRCm39)	E1703V	probably damaging	Het
Rev3l	G	T	10: 39,700,611 (GRCm39)	E1703*	probably null	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Saal1	T	C	7: 46,342,340 (GRCm39)	K368E	probably damaging	Het
Scn9a	C	T	2: 66,335,220 (GRCm39)	W1245*	probably null	Het
Slc38a11	T	A	2: 65,147,315 (GRCm39)	L387F	probably damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Sptb	C	A	12: 76,667,641 (GRCm39)	V819L	probably benign	Het
Sptbn1	T	C	11: 30,086,124 (GRCm39)	T1195A	probably benign	Het
Ssna1	C	A	2: 25,162,024 (GRCm39)	V57F	possibly damaging	Het
Stk32a	G	T	18: 43,446,485 (GRCm39)	E312*	probably null	Het
Synpo	A	G	18: 60,736,459 (GRCm39)	F496L	probably benign	Het
Syt15	C	T	14: 33,944,858 (GRCm39)	T135M	probably benign	Het
Tm9sf4	A	G	2: 153,032,832 (GRCm39)	E246G	probably benign	Het
Trim44	T	C	2: 102,187,830 (GRCm39)	M308V	possibly damaging	Het
Unc119b	T	A	5: 115,272,885 (GRCm39)	K29*	probably null	Het
Vim	T	A	2: 13,584,921 (GRCm39)	D367E	probably benign	Het
Virma	T	A	4: 11,494,814 (GRCm39)	N38K	probably damaging	Het
Vmn1r228	A	T	17: 20,996,560 (GRCm39)	D319E	possibly damaging	Het
Vmn2r32	T	A	7: 7,466,991 (GRCm39)	I846F	probably benign	Het
Vps13b	T	C	15: 35,576,667 (GRCm39)	V1025A	probably benign	Het
Vps13c	G	T	9: 67,879,357 (GRCm39)	E566*	probably null	Het

Other mutations in Limk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01105:Limk2	APN	11	3,305,475 (GRCm39)	splice site	probably benign
IGL01592:Limk2	APN	11	3,309,052 (GRCm39)	missense	probably benign	0.00
IGL01716:Limk2	APN	11	3,308,990 (GRCm39)	splice site	probably null
IGL01911:Limk2	APN	11	3,305,340 (GRCm39)	missense	probably benign
R0900:Limk2	UTSW	11	3,300,731 (GRCm39)	missense	probably damaging	1.00
R1587:Limk2	UTSW	11	3,303,455 (GRCm39)	missense	possibly damaging	0.82
R1632:Limk2	UTSW	11	3,296,250 (GRCm39)	missense	probably damaging	1.00
R1712:Limk2	UTSW	11	3,308,104 (GRCm39)	splice site	probably null
R1792:Limk2	UTSW	11	3,308,236 (GRCm39)	missense	probably benign
R1982:Limk2	UTSW	11	3,305,461 (GRCm39)	missense	probably benign	0.00
R3009:Limk2	UTSW	11	3,309,046 (GRCm39)	missense	probably benign	0.01
R4565:Limk2	UTSW	11	3,298,634 (GRCm39)	missense	probably damaging	0.98
R4703:Limk2	UTSW	11	3,297,586 (GRCm39)	nonsense	probably null
R4978:Limk2	UTSW	11	3,359,069 (GRCm39)	utr 5 prime	probably benign
R5160:Limk2	UTSW	11	3,300,772 (GRCm39)	missense	probably damaging	1.00
R5460:Limk2	UTSW	11	3,302,332 (GRCm39)	missense	probably benign	0.30
R6497:Limk2	UTSW	11	3,310,492 (GRCm39)	missense	probably benign	0.00
R6543:Limk2	UTSW	11	3,300,682 (GRCm39)	missense	probably damaging	1.00
R6666:Limk2	UTSW	11	3,310,493 (GRCm39)	missense	probably damaging	1.00
R7054:Limk2	UTSW	11	3,305,448 (GRCm39)	missense	possibly damaging	0.95
R7330:Limk2	UTSW	11	3,296,311 (GRCm39)	missense	probably benign	0.39
R7681:Limk2	UTSW	11	3,303,354 (GRCm39)	missense	probably damaging	0.96
R7722:Limk2	UTSW	11	3,306,092 (GRCm39)	splice site	probably null
R7745:Limk2	UTSW	11	3,305,896 (GRCm39)	missense	probably damaging	0.99
R8120:Limk2	UTSW	11	3,298,589 (GRCm39)	splice site	probably null
R8193:Limk2	UTSW	11	3,297,691 (GRCm39)	missense	possibly damaging	0.79
R8379:Limk2	UTSW	11	3,321,162 (GRCm39)	start gained	probably benign
R8557:Limk2	UTSW	11	3,296,379 (GRCm39)	missense	possibly damaging	0.89
R8708:Limk2	UTSW	11	3,300,763 (GRCm39)	missense	probably benign	0.19
R9617:Limk2	UTSW	11	3,297,715 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGATACACAGGCTTACCTGACCCC -3'
(R):5'- CGCAGTAACAGCATCTCCAAGTCTC -3'

Sequencing Primer
(F):5'- GTGGACCCTAACCTGAGCTTC -3'
(R):5'- ATCTCCAAGTCTCCGGGC -3'

Posted On

2014-05-14