Mutagenetix > Incidental Mutation

Incidental Mutation 'R3885:Lrch2'

308739

Institutional Source

Beutler Lab

Gene Symbol

Lrch2

Ensembl Gene

ENSMUSG00000031290

Gene Name

leucine-rich repeats and calponin homology (CH) domain containing 2

Synonyms

MMRRC Submission

040905-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R3885 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

146253371-146337077 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 146256003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Proline at position 437 (A437P)

Ref Sequence

ENSEMBL: ENSMUSP00000121128 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112819] [ENSMUST00000152838]

AlphaFold

Q3UMG5

Predicted Effect

probably damaging
Transcript: ENSMUST00000112819
AA Change: A758P

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

SMART Domains

Protein: ENSMUSP00000108438
Gene: ENSMUSG00000031290
AA Change: A758P

Domain	Start	End	E-Value	Type
low complexity region	6	52	N/A	INTRINSIC
LRR	141	163	7.59e1	SMART
LRR_TYP	164	187	4.11e-2	SMART
LRR	209	231	6.59e1	SMART
LRR	232	255	2.67e-1	SMART
LRR	277	300	3.36e1	SMART
low complexity region	437	454	N/A	INTRINSIC
low complexity region	462	477	N/A	INTRINSIC
low complexity region	580	593	N/A	INTRINSIC
CH	656	759	1.98e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134265

Predicted Effect

unknown
Transcript: ENSMUST00000136789
AA Change: A768P

SMART Domains

Protein: ENSMUSP00000123633
Gene: ENSMUSG00000031290
AA Change: A768P

Domain	Start	End	E-Value	Type
low complexity region	17	63	N/A	INTRINSIC
LRR	152	174	7.59e1	SMART
LRR_TYP	175	198	4.11e-2	SMART
LRR	220	242	6.59e1	SMART
LRR	243	266	2.67e-1	SMART
LRR	288	311	3.36e1	SMART
low complexity region	448	465	N/A	INTRINSIC
low complexity region	473	488	N/A	INTRINSIC
low complexity region	591	604	N/A	INTRINSIC
CH	667	770	1.98e-14	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000137665
AA Change: A448P

SMART Domains

Protein: ENSMUSP00000117458
Gene: ENSMUSG00000031290
AA Change: A448P

Domain	Start	End	E-Value	Type
low complexity region	150	167	N/A	INTRINSIC
low complexity region	175	190	N/A	INTRINSIC
low complexity region	271	284	N/A	INTRINSIC
CH	347	450	1.98e-14	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000152838
AA Change: A437P

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

SMART Domains

Protein: ENSMUSP00000121128
Gene: ENSMUSG00000031290
AA Change: A437P

Domain	Start	End	E-Value	Type
low complexity region	133	150	N/A	INTRINSIC
low complexity region	158	173	N/A	INTRINSIC
CH	335	438	1.98e-14	SMART

Meta Mutation Damage Score

0.4595

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

95% (40/42)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the leucine-rich repeat and calponin homology domain-containing protein family. These family members contain multiple N-terminal leucine-rich repeats, in addition to a C-terminal calponin homology domain, a type of domain that mediates interactions with actin filaments. These proteins are conserved across animal species, and studies of a similar Drosophila protein indicate a function as a cytoskeletal scaffolding protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011]
PHENOTYPE: Male chimeras hemizygous for a gene trapped allele appear normal at E9.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak8	G	A	2: 28,623,897 (GRCm39)	V161I	possibly damaging	Het
Ank3	A	T	10: 69,734,866 (GRCm39)	I792F	probably damaging	Het
B930094E09Rik	G	A	18: 31,742,742 (GRCm39)	S59N	unknown	Het
Boc	T	C	16: 44,307,976 (GRCm39)		probably benign	Het
Bptf	G	A	11: 106,965,339 (GRCm39)	T1170M	probably damaging	Het
Ccdc85a	T	A	11: 28,526,677 (GRCm39)	E310D	probably benign	Het
Cfap221	A	G	1: 119,881,876 (GRCm39)		probably null	Het
Dmxl1	T	A	18: 50,011,326 (GRCm39)	M1161K	probably damaging	Het
Eif2ak1	A	T	5: 143,821,479 (GRCm39)	Q265L	probably benign	Het
Eif2s1	T	A	12: 78,927,999 (GRCm39)	I225N	probably damaging	Het
Ephb2	C	T	4: 136,498,345 (GRCm39)	G245S	probably damaging	Het
Exoc4	T	C	6: 33,243,066 (GRCm39)		probably null	Het
Foxd2	T	C	4: 114,765,483 (GRCm39)	H179R	unknown	Het
Gck	T	C	11: 5,860,318 (GRCm39)	Y108C	probably damaging	Het
Gjc3	T	A	5: 137,956,105 (GRCm39)	N60I	possibly damaging	Het
Gm5145	A	T	17: 20,791,272 (GRCm39)	T217S	probably benign	Het
Gpc5	T	C	14: 115,607,472 (GRCm39)	M358T	probably benign	Het
Gpr150	T	C	13: 76,204,657 (GRCm39)	Q96R	probably damaging	Het
H2ac22	A	G	13: 21,971,039 (GRCm39)	L117P	probably damaging	Het
H2ac8	G	T	13: 23,755,053 (GRCm39)	T77K	possibly damaging	Het
Itga2	A	T	13: 115,005,835 (GRCm39)	H448Q	probably benign	Het
Lcor	T	A	19: 41,546,795 (GRCm39)	S126R	probably damaging	Het
Lrriq1	T	C	10: 103,051,967 (GRCm39)	I262V	probably damaging	Het
Mgst3	G	T	1: 167,200,131 (GRCm39)	Q135K	probably benign	Het
Nrxn1	T	A	17: 90,930,899 (GRCm39)	T766S	probably damaging	Het
Or11j4	A	T	14: 50,630,326 (GRCm39)	I38F	probably benign	Het
Ovch2	A	G	7: 107,395,775 (GRCm39)	I81T	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rictor	A	T	15: 6,789,091 (GRCm39)	N236Y	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rreb1	G	T	13: 38,077,941 (GRCm39)	R51L	probably damaging	Het
Senp7	A	G	16: 56,006,442 (GRCm39)	E922G	probably damaging	Het
Slc15a2	A	G	16: 36,602,666 (GRCm39)	F65S	probably damaging	Het
Slitrk5	T	A	14: 111,917,229 (GRCm39)	C284*	probably null	Het
Steap4	G	T	5: 8,030,494 (GRCm39)	R450L	probably damaging	Het
Usp40	A	T	1: 87,894,991 (GRCm39)	L843Q	probably damaging	Het
Vmn2r97	C	T	17: 19,148,596 (GRCm39)	L164F	possibly damaging	Het
Wiz	G	T	17: 32,576,012 (GRCm39)	A798E	possibly damaging	Het

Other mutations in Lrch2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02151:Lrch2	APN	X	146,336,716 (GRCm39)	missense	possibly damaging	0.75
IGL02619:Lrch2	APN	X	146,302,131 (GRCm39)	missense	probably damaging	1.00
IGL02619:Lrch2	APN	X	146,263,537 (GRCm39)	missense	probably damaging	1.00
R2920:Lrch2	UTSW	X	146,256,026 (GRCm39)	missense	probably damaging	1.00
R3886:Lrch2	UTSW	X	146,256,003 (GRCm39)	missense	probably damaging	1.00
R6293:Lrch2	UTSW	X	146,263,553 (GRCm39)	missense	probably damaging	1.00
R6296:Lrch2	UTSW	X	146,263,553 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTTGGACCACTCAGAGTT -3'
(R):5'- AAGAATGAGAACGGGACTCTC -3'

Sequencing Primer
(F):5'- GCTTGGACCACTCAGAGTTTATATC -3'
(R):5'- AATCTCCATTTCTGTCTCAG -3'

Posted On

2015-04-17