Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02230:Lrrc4'

285656

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrc4

Ensembl Gene

ENSMUSG00000049939

Gene Name

leucine rich repeat containing 4

Synonyms

NLG-2, Nag14, NGL-2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.211) question?

Stock #

IGL02230

Quality Score

Status

Chromosome

Chromosomal Location

28661831-28831747 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 28830880 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 245 (K245N)

Ref Sequence

ENSEMBL: ENSMUSP00000062158 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001460] [ENSMUST00000062304] [ENSMUST00000164915] [ENSMUST00000167201] [ENSMUST00000171353]

AlphaFold

Q99PH1

Predicted Effect

probably benign
Transcript: ENSMUST00000001460

SMART Domains

Protein: ENSMUSP00000001460
Gene: ENSMUSG00000001424

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
SNc	18	166	7.12e-54	SMART
SNc	193	328	8.37e-51	SMART
SNc	341	496	4.11e-59	SMART
SNc	525	660	3.82e-45	SMART
TUDOR	728	785	4.8e-19	SMART
Pfam:SNase	835	895	1.3e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000062304
AA Change: K245N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000062158
Gene: ENSMUSG00000049939
AA Change: K245N

Domain	Start	End	E-Value	Type
low complexity region	32	40	N/A	INTRINSIC
LRRNT	44	78	4.05e-5	SMART
LRR	72	96	1.19e2	SMART
LRR_TYP	97	120	2.24e-3	SMART
LRR	121	144	6.13e-1	SMART
LRR_TYP	145	168	5.99e-4	SMART
LRR	216	239	1.25e-1	SMART
LRR	240	263	4.71e1	SMART
LRR_TYP	264	287	2.79e-4	SMART
LRRCT	299	350	8.06e-6	SMART
IGc2	364	430	5.24e-7	SMART
low complexity region	452	462	N/A	INTRINSIC
transmembrane domain	527	549	N/A	INTRINSIC
low complexity region	575	586	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164915

SMART Domains

Protein: ENSMUSP00000127317
Gene: ENSMUSG00000001424

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
SNc	18	142	1.56e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167201

SMART Domains

Protein: ENSMUSP00000128737
Gene: ENSMUSG00000001424

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
SNc	18	166	7.12e-54	SMART
SNc	193	328	8.37e-51	SMART
SNc	341	496	4.11e-59	SMART
SCOP:d1sty__	526	592	1e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169579

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171195

Predicted Effect

probably benign
Transcript: ENSMUST00000171353

SMART Domains

Protein: ENSMUSP00000129497
Gene: ENSMUSG00000049939

Domain	Start	End	E-Value	Type
low complexity region	29	39	N/A	INTRINSIC
transmembrane domain	104	126	N/A	INTRINSIC
low complexity region	152	163	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is significantly downregulated in primary brain tumors. The exact function of the protein encoded by this gene is unknown. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit hyperactivity, an absence of startle reflex, and abnormal ABR amplitude. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	A	12: 80,171,830	T727S	probably benign	Het
Cyp4a12b	A	T	4: 115,433,996	I374F	probably damaging	Het
Ecel1	T	C	1: 87,152,194	N399S	probably damaging	Het
Fpr-rs3	T	C	17: 20,623,928	E317G	probably damaging	Het
Gm10030	T	A	9: 111,006,390		noncoding transcript	Het
Gm4884	A	T	7: 41,043,405	Q266L	probably damaging	Het
Gpr45	C	A	1: 43,032,656	A153E	probably damaging	Het
Hc	A	G	2: 35,013,670	F991L	probably benign	Het
Hif1a	T	G	12: 73,932,450	D249E	probably damaging	Het
Hsd17b12	A	G	2: 94,045,398	L194P	possibly damaging	Het
Hspg2	T	C	4: 137,518,645	S947P	probably damaging	Het
Kng1	G	T	16: 23,060,494		probably null	Het
Lpp	C	T	16: 24,762,145	R204W	probably damaging	Het
Mdga2	G	A	12: 66,655,423	R335*	probably null	Het
Naa16	A	T	14: 79,377,361		probably benign	Het
Ncbp1	C	A	4: 46,165,272	N528K	probably benign	Het
Olfr57	T	A	10: 79,035,042	M82K	probably damaging	Het
Olfr714	A	G	7: 107,074,493	I222V	probably damaging	Het
Pipox	A	G	11: 77,881,206	L364P	probably damaging	Het
R3hdm4	C	A	10: 79,912,091	A206S	probably damaging	Het
Rasgrf2	A	G	13: 91,988,026	I589T	probably damaging	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Sdr16c5	T	C	4: 4,016,354	E24G	probably damaging	Het
Sec24a	T	C	11: 51,709,034	I815V	possibly damaging	Het
Serpina16	A	G	12: 103,675,302	Y55H	probably damaging	Het
Sirt2	C	T	7: 28,778,946	R83C	probably damaging	Het
Sntg1	A	T	1: 8,681,971		probably null	Het
Stmn1	A	G	4: 134,472,913	E99G	probably damaging	Het
Tas2r103	T	C	6: 133,037,056	I16V	possibly damaging	Het
Vit	A	G	17: 78,619,627	K334E	probably damaging	Het
Washc4	T	C	10: 83,581,369	I876T	probably benign	Het
Wrn	A	T	8: 33,317,563	V289D	probably damaging	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het

Other mutations in Lrrc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03223:Lrrc4	APN	6	28831470	missense	probably damaging	1.00
IGL03410:Lrrc4	APN	6	28830516	missense	probably damaging	1.00
R0233:Lrrc4	UTSW	6	28829735	missense	probably benign	0.05
R0233:Lrrc4	UTSW	6	28829735	missense	probably benign	0.05
R0456:Lrrc4	UTSW	6	28831104	missense	probably damaging	1.00
R1162:Lrrc4	UTSW	6	28831084	missense	probably damaging	1.00
R2001:Lrrc4	UTSW	6	28830905	missense	probably damaging	1.00
R2089:Lrrc4	UTSW	6	28830587	missense	probably benign	0.45
R2091:Lrrc4	UTSW	6	28830587	missense	probably benign	0.45
R2091:Lrrc4	UTSW	6	28830587	missense	probably benign	0.45
R2353:Lrrc4	UTSW	6	28831452	missense	probably benign	0.00
R5079:Lrrc4	UTSW	6	28830770	missense	possibly damaging	0.69
R5197:Lrrc4	UTSW	6	28830143	missense	probably damaging	1.00
R6701:Lrrc4	UTSW	6	28830906	missense	possibly damaging	0.95
R6755:Lrrc4	UTSW	6	28831293	missense	probably damaging	1.00
R7660:Lrrc4	UTSW	6	28829817	missense	probably benign	0.00
R7661:Lrrc4	UTSW	6	28829763	missense	probably benign	0.00
R8113:Lrrc4	UTSW	6	28829903	missense	probably damaging	0.97
R8272:Lrrc4	UTSW	6	28662193	missense	unknown
R9074:Lrrc4	UTSW	6	28831596	missense	probably damaging	0.99
R9094:Lrrc4	UTSW	6	28830207	missense	possibly damaging	0.92
R9197:Lrrc4	UTSW	6	28831319	missense	probably benign	0.01
R9447:Lrrc4	UTSW	6	28830651	missense	probably benign	0.08
R9803:Lrrc4	UTSW	6	28662200	missense	probably benign	0.00

Posted On

2015-04-16