Mutagenetix > Incidental Mutation

Incidental Mutation 'R4978:Limk2'

384616

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

042573-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.186) question?

Stock #

R4978 (G1)

Quality Score

115

Status

Validated

Chromosome

Chromosomal Location

3294256-3359189 bp(-) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

G to T at 3359069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099162 (fasta)

Gene Model

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

AlphaFold

O54785

PDB Structure

Solution structure of the PDZ domain from mouse LIM domain kinase [SOLUTION NMR]

Predicted Effect

probably benign
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

noncoding transcript
Transcript: ENSMUST00000125832

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145223

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

96% (70/73)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	G	A	8: 56,324,436 (GRCm39)	P673S	probably damaging	Het
Adam39	T	C	8: 41,278,374 (GRCm39)	I255T	possibly damaging	Het
Adgrg6	A	G	10: 14,296,205 (GRCm39)	F1093S	probably damaging	Het
Amer3	A	G	1: 34,618,381 (GRCm39)		probably benign	Het
Avil	A	T	10: 126,854,265 (GRCm39)	N744I	probably benign	Het
B430305J03Rik	T	C	3: 61,271,440 (GRCm39)		probably benign	Het
Caps2	A	T	10: 112,018,399 (GRCm39)	Q141L	probably benign	Het
Capza2	T	A	6: 17,662,114 (GRCm39)	D201E	probably null	Het
Ccdc7b	T	C	8: 129,836,688 (GRCm39)		probably null	Het
Clcn6	C	T	4: 148,093,227 (GRCm39)	V818I	probably benign	Het
Cpeb4	C	T	11: 31,881,509 (GRCm39)	H723Y	probably null	Het
Cspp1	T	A	1: 10,153,742 (GRCm39)	F384I	possibly damaging	Het
Cyp2c50	T	G	19: 40,086,501 (GRCm39)	V355G	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dpys	A	T	15: 39,690,332 (GRCm39)	D340E	possibly damaging	Het
Dsp	T	A	13: 38,366,210 (GRCm39)	L548Q	probably damaging	Het
Dyrk2	A	T	10: 118,696,252 (GRCm39)	D335E	probably benign	Het
Etaa1	T	C	11: 17,896,581 (GRCm39)	D512G	probably damaging	Het
Fam210b	G	C	2: 172,187,585 (GRCm39)	A2P	probably damaging	Het
Fbxo9	G	A	9: 77,993,168 (GRCm39)		probably benign	Het
Fh1	A	T	1: 175,431,533 (GRCm39)	M451K	probably damaging	Het
Flrt1	A	G	19: 7,074,241 (GRCm39)	L102P	probably damaging	Het
Gins2	A	G	8: 121,315,550 (GRCm39)	L40S	possibly damaging	Het
Gm5436	G	A	12: 84,305,461 (GRCm39)		noncoding transcript	Het
Gm7298	T	G	6: 121,710,076 (GRCm39)		probably null	Het
Gm7353	A	G	7: 3,160,038 (GRCm39)		noncoding transcript	Het
Gramd1a	T	C	7: 30,832,213 (GRCm39)	E608G	possibly damaging	Het
Hcls1	T	C	16: 36,758,222 (GRCm39)	W38R	probably damaging	Het
Ik	C	T	18: 36,880,468 (GRCm39)	P51S	possibly damaging	Het
Irx1	A	G	13: 72,111,604 (GRCm39)	S2P	possibly damaging	Het
Kng2	T	A	16: 22,806,666 (GRCm39)	N511I	probably damaging	Het
Map1a	T	G	2: 121,131,623 (GRCm39)	V813G	probably benign	Het
Mast1	T	C	8: 85,662,416 (GRCm39)	T31A	probably damaging	Het
N4bp2	T	C	5: 65,947,583 (GRCm39)	F71S	probably damaging	Het
Neurod1	C	T	2: 79,284,571 (GRCm39)	G271R	probably damaging	Het
Or52x1	T	C	7: 104,853,398 (GRCm39)	I51V	probably benign	Het
Pcdhb22	A	G	18: 37,651,654 (GRCm39)	T41A	probably benign	Het
Pclo	T	A	5: 14,764,492 (GRCm39)	S4322T	probably benign	Het
Pde9a	T	A	17: 31,692,197 (GRCm39)	D497E	probably benign	Het
Plaa	A	G	4: 94,478,169 (GRCm39)	S98P	possibly damaging	Het
Prl2c1	A	G	13: 28,041,553 (GRCm39)	T192A	probably benign	Het
Ptpn18	T	C	1: 34,508,894 (GRCm39)		probably benign	Het
Rab27b	C	T	18: 70,127,585 (GRCm39)	V68I	probably benign	Het
Reep5	A	G	18: 34,506,349 (GRCm39)	F9S	probably damaging	Het
Scaf11	T	C	15: 96,313,798 (GRCm39)	N1328D	probably damaging	Het
Slc25a13	G	A	6: 6,042,300 (GRCm39)	S626F	probably damaging	Het
Smg1	A	G	7: 117,753,470 (GRCm39)		probably benign	Het
Spock2	T	A	10: 59,966,911 (GRCm39)	F332I	probably benign	Het
Tep1	C	T	14: 51,082,891 (GRCm39)	R1039Q	possibly damaging	Het
Thap1	AGCAGCATCTGCTCG	AG	8: 26,650,882 (GRCm39)		probably null	Het
Tradd	T	C	8: 105,985,900 (GRCm39)	Q217R	probably benign	Het
Umodl1	T	C	17: 31,205,055 (GRCm39)	I550T	probably benign	Het
Vgll3	T	A	16: 65,612,572 (GRCm39)	Y18*	probably null	Het
Vmn1r49	G	T	6: 90,049,872 (GRCm39)	N43K	probably benign	Het
Vps50	A	G	6: 3,517,808 (GRCm39)	N82S	probably benign	Het
Vstm2a	A	G	11: 16,211,460 (GRCm39)	D90G	possibly damaging	Het
Vwa3b	A	G	1: 37,154,752 (GRCm39)	Y512C	probably damaging	Het
Wrnip1	A	G	13: 33,000,295 (GRCm39)	D434G	probably damaging	Het
Zan	C	T	5: 137,405,183 (GRCm39)		probably benign	Het
Zfp286	A	G	11: 62,679,754 (GRCm39)		probably null	Het
Zkscan17	A	G	11: 59,384,053 (GRCm39)	V123A	possibly damaging	Het
Zkscan2	C	G	7: 123,094,542 (GRCm39)	A211P	possibly damaging	Het
Zswim4	C	T	8: 84,953,296 (GRCm39)		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
R1695:Limk2	UTSW	11	3,303,275 (GRCm39)	critical splice donor site	probably null
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
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'- TTCCAGAGTCCCAAGACCTTC -3'
(R):5'- CAATCCGAACGCCTCTAGAG -3'

Sequencing Primer
(F):5'- AAGACCTTCAAGTCCCGAGGG -3'
(R):5'- TTAACCTAAGTGGGAGGGGCTC -3'

Posted On

2016-05-10