Mutagenetix > Incidental Mutation

Incidental Mutation 'R2920:Lrch2'

255500

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

040505-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R2920 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

147470375-147554081 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 147473030 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 750 (V750E)

Ref Sequence

ENSEMBL: ENSMUSP00000108438 (fasta)

Gene Model

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

AlphaFold

Q3UMG5

Predicted Effect

probably damaging
Transcript: ENSMUST00000112819
AA Change: V750E

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

SMART Domains

Protein: ENSMUSP00000108438
Gene: ENSMUSG00000031290
AA Change: V750E

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: V760E

SMART Domains

Protein: ENSMUSP00000123633
Gene: ENSMUSG00000031290
AA Change: V760E

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: V440E

SMART Domains

Protein: ENSMUSP00000117458
Gene: ENSMUSG00000031290
AA Change: V440E

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: V429E

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121128
Gene: ENSMUSG00000031290
AA Change: V429E

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

0.7196

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

96% (48/50)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	G	10: 10,390,243	Y1025H	probably damaging	Het
Adgrv1	C	T	13: 81,448,865	A4122T	probably benign	Het
Aloxe3	C	T	11: 69,142,923	T621I	probably damaging	Het
Atp2b3	A	C	X: 73,533,920	T318P	probably benign	Het
Atrx	A	T	X: 105,830,868	V1962D	probably benign	Het
Chl1	C	A	6: 103,695,343	T531K	probably damaging	Het
Clca3b	T	A	3: 144,837,853	D405V	probably benign	Het
Clca3b	C	T	3: 144,846,931	D115N	probably benign	Het
Comtd1	A	G	14: 21,847,618	L149P	possibly damaging	Het
Cops7a	A	G	6: 124,962,362	V108A	probably benign	Het
Crebbp	A	G	16: 4,119,082	V343A	probably damaging	Het
Edrf1	T	A	7: 133,667,572	D1109E	probably benign	Het
Elmo3	A	G	8: 105,308,059	E359G	possibly damaging	Het
Ep400	C	A	5: 110,755,914	G273V	probably damaging	Het
Fgfr3	A	G	5: 33,733,940	N516S	probably damaging	Het
Glb1l	T	A	1: 75,209,190	E31D	probably benign	Het
Gm10093	A	G	17: 78,492,846	D422G	probably damaging	Het
Il12rb2	C	T	6: 67,360,568	V110I	probably damaging	Het
Ints3	T	C	3: 90,393,162	E884G	probably benign	Het
Lin7b	A	G	7: 45,368,397	V170A	possibly damaging	Het
Mepe	C	T	5: 104,338,247	R418C	probably damaging	Het
Mettl25	A	T	10: 105,765,177		probably null	Het
Mphosph9	G	A	5: 124,261,006	T982I	probably benign	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Myo10	G	T	15: 25,801,140	V1472L	probably damaging	Het
Myo9b	A	G	8: 71,325,857	K445R	probably damaging	Het
Ntng2	T	C	2: 29,204,211	M383V	probably benign	Het
Olfr1353	A	C	10: 78,970,012	D121A	probably damaging	Het
Olfr30	T	C	11: 58,455,577	Y124C	probably damaging	Het
Olfr702	C	T	7: 106,824,364	R54Q	probably benign	Het
Pak6	A	T	2: 118,694,007		probably benign	Het
Pcdh8	G	T	14: 79,768,714	P803Q	possibly damaging	Het
Pfkfb3	C	T	2: 11,484,327	V286I	probably benign	Het
Rbp3	C	T	14: 33,956,018	T641M	probably damaging	Het
Rint1	A	G	5: 23,805,402	E203G	probably benign	Het
Sdf2	G	C	11: 78,254,854	V126L	probably damaging	Het
Slc13a5	T	C	11: 72,247,791	E442G	possibly damaging	Het
Slc14a2	G	T	18: 78,158,297	S669*	probably null	Het
Slc38a7	A	G	8: 95,845,943	I157T	possibly damaging	Het
Slc4a5	T	C	6: 83,264,387	L215P	probably damaging	Het
Tbc1d9	T	C	8: 83,210,469	V60A	probably benign	Het
Tcerg1l	T	C	7: 138,248,379	R422G	probably damaging	Het
Tmem107	T	C	11: 69,071,421	L68P	probably damaging	Het
Ugt2b5	A	G	5: 87,125,407	F467L	possibly damaging	Het
Vmn1r19	A	T	6: 57,404,924	N154I	probably benign	Het
Vmn2r69	T	A	7: 85,411,765	I204L	probably benign	Het
Zbtb1	T	A	12: 76,385,845	S202T	possibly damaging	Het

Other mutations in Lrch2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02151:Lrch2	APN	X	147553720	missense	possibly damaging	0.75
IGL02619:Lrch2	APN	X	147480541	missense	probably damaging	1.00
IGL02619:Lrch2	APN	X	147519135	missense	probably damaging	1.00
R3885:Lrch2	UTSW	X	147473007	missense	probably damaging	1.00
R3886:Lrch2	UTSW	X	147473007	missense	probably damaging	1.00
R6293:Lrch2	UTSW	X	147480557	missense	probably damaging	1.00
R6296:Lrch2	UTSW	X	147480557	missense	probably damaging	1.00

Predicted Primers

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

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

Posted On

2014-12-29