Mutagenetix > Incidental Mutation

Incidental Mutation 'R3886:Lrch2'

309672

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

040798-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R3886 (G1)

Quality Score

222

Status

Not 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: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933407L21Rik	T	A	1: 85,868,273 (GRCm39)		probably null	Het
Adam17	G	A	12: 21,375,588 (GRCm39)	R744C	probably damaging	Het
Adss2	A	G	1: 177,595,335 (GRCm39)	Y402H	probably damaging	Het
Ccdc73	A	T	2: 104,821,688 (GRCm39)	T546S	possibly damaging	Het
Cd22	T	C	7: 30,569,532 (GRCm39)	D354G	possibly damaging	Het
Chchd6	T	C	6: 89,444,433 (GRCm39)	E183G	probably damaging	Het
Col6a5	A	G	9: 105,808,129 (GRCm39)	L973P	unknown	Het
Cp	T	C	3: 20,043,275 (GRCm39)	L1021P	probably damaging	Het
Cplane1	T	A	15: 8,201,289 (GRCm39)	V22E	probably damaging	Het
Cps1	C	A	1: 67,204,659 (GRCm39)	T493K	possibly damaging	Het
D630045J12Rik	A	G	6: 38,119,633 (GRCm39)	V1703A	possibly damaging	Het
Dennd1a	T	C	2: 37,748,089 (GRCm39)	N376S	possibly damaging	Het
Dmxl1	T	A	18: 50,011,326 (GRCm39)	M1161K	probably damaging	Het
Ect2l	C	T	10: 18,044,206 (GRCm39)	V310M	probably damaging	Het
Fn1	T	C	1: 71,679,465 (GRCm39)	Y511C	probably damaging	Het
Foxd2	T	C	4: 114,765,483 (GRCm39)	H179R	unknown	Het
Gm8674	T	C	13: 50,056,199 (GRCm39)		noncoding transcript	Het
Ice1	T	C	13: 70,753,489 (GRCm39)	T866A	probably benign	Het
Jade2	C	T	11: 51,721,326 (GRCm39)	V201I	possibly damaging	Het
Kcnb2	T	C	1: 15,780,639 (GRCm39)	S504P	probably damaging	Het
Kcng4	T	C	8: 120,359,986 (GRCm39)	K130R	probably benign	Het
Lcor	T	A	19: 41,546,795 (GRCm39)	S126R	probably damaging	Het
Lct	T	C	1: 128,231,963 (GRCm39)	M629V	probably damaging	Het
Lrrk1	C	T	7: 65,942,112 (GRCm39)	V709I	probably damaging	Het
Mdh1	A	G	11: 21,509,832 (GRCm39)	V181A	probably damaging	Het
Or10g7	A	G	9: 39,905,835 (GRCm39)	H243R	probably damaging	Het
Or4a71	T	A	2: 89,358,076 (GRCm39)	H226L	possibly damaging	Het
Ppp1r3a	A	C	6: 14,719,911 (GRCm39)	D334E	possibly damaging	Het
Pramel17	T	C	4: 101,692,920 (GRCm39)	K360R	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rbm45	A	G	2: 76,205,768 (GRCm39)	S207G	probably benign	Het
Relch	A	G	1: 105,619,938 (GRCm39)	N331S	probably benign	Het
Robo3	G	A	9: 37,333,477 (GRCm39)	Q723*	probably null	Het
Rreb1	G	A	13: 38,082,482 (GRCm39)		probably null	Het
Slc35f2	T	A	9: 53,724,241 (GRCm39)	S372T	probably benign	Het
Slitrk5	T	A	14: 111,917,229 (GRCm39)	C284*	probably null	Het
Snapc4	G	A	2: 26,255,510 (GRCm39)	Q1005*	probably null	Het
Tent4b	C	A	8: 88,927,043 (GRCm39)	A151E	probably benign	Het
Tnxb	A	G	17: 34,937,885 (GRCm39)	D3896G	probably damaging	Het
Tti1	A	G	2: 157,850,870 (GRCm39)	V123A	possibly damaging	Het
Usp1	T	C	4: 98,817,973 (GRCm39)	C147R	probably damaging	Het
Vill	A	G	9: 118,895,782 (GRCm39)	N106S	probably benign	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
R3885: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'- GCTTGGACCACTCAGAGTTTA -3'
(R):5'- GAAGAATGAGAACGGGACTCTC -3'

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

Posted On

2015-04-17