Mutagenetix > Incidental Mutation

Incidental Mutation 'R0400:Lrrn4'

38104

Institutional Source

Beutler Lab

Gene Symbol

Lrrn4

Ensembl Gene

ENSMUSG00000043110

Gene Name

leucine rich repeat neuronal 4

Synonyms

B430119L13Rik

MMRRC Submission

038605-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R0400 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132868305-132880891 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 132878020 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 287 (F287V)

Ref Sequence

ENSEMBL: ENSMUSP00000057005 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049787]

AlphaFold

P59383

Predicted Effect

probably benign
Transcript: ENSMUST00000049787
AA Change: F287V

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000057005
Gene: ENSMUSG00000043110
AA Change: F287V

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
LRR	105	126	7.36e0	SMART
LRR_TYP	128	151	3.44e-4	SMART
LRR	153	175	1.19e1	SMART
LRR	176	199	1.53e1	SMART
LRR	205	228	2.03e1	SMART
LRR	229	253	3.36e2	SMART
LRRCT	311	363	6.92e-2	SMART
low complexity region	520	530	N/A	INTRINSIC
FN3	577	656	3.73e-10	SMART
transmembrane domain	679	701	N/A	INTRINSIC

Meta Mutation Damage Score

0.1141

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.8%

Validation Efficiency

97% (76/78)

MGI Phenotype

PHENOTYPE: Homozygous null mutant mice exhibit impaired memory retention in hippocampus- dependent learning tasks such as contextual conditioning and spatial learning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	T	A	11: 30,426,360	H169L	probably benign	Het
9130230L23Rik	T	C	5: 65,990,356	D28G	unknown	Het
Abca12	T	A	1: 71,259,776		probably benign	Het
Acsl5	T	C	19: 55,293,711	V573A	probably damaging	Het
Agap1	A	G	1: 89,843,250		probably benign	Het
Arid2	A	G	15: 96,356,925		probably benign	Het
B430305J03Rik	T	A	3: 61,364,135		probably benign	Het
Brsk2	T	C	7: 141,998,553	L584P	probably damaging	Het
C2cd4c	A	G	10: 79,613,209	Y35H	probably damaging	Het
Cacul1	A	G	19: 60,563,153		probably benign	Het
Cers3	T	C	7: 66,764,330	V88A	probably benign	Het
Cnnm1	A	T	19: 43,468,364	H614L	probably damaging	Het
Col1a1	T	A	11: 94,941,369		probably benign	Het
Cyp1b1	T	A	17: 79,713,587	D242V	probably damaging	Het
Cyp4a31	T	C	4: 115,563,718	M1T	probably null	Het
Dbn1	C	T	13: 55,474,916	E585K	probably damaging	Het
Dclk2	A	T	3: 86,813,747		probably null	Het
Ddx58	A	G	4: 40,235,257	Y78H	probably benign	Het
Dnah17	A	G	11: 118,082,078	S2010P	probably damaging	Het
Dram2	T	C	3: 106,573,618	L246P	probably damaging	Het
Dus2	A	T	8: 106,048,677	T279S	probably benign	Het
Epn2	T	C	11: 61,532,696		probably null	Het
Esco2	C	A	14: 65,831,706	V52F	possibly damaging	Het
Fbp1	T	A	13: 62,865,068	T104S	probably benign	Het
Foxj2	A	T	6: 122,833,808	Q249L	possibly damaging	Het
Galnt7	T	C	8: 57,583,989	Y122C	probably damaging	Het
Gimd1	T	C	3: 132,634,827	Y35H	probably benign	Het
Gipc2	A	G	3: 152,165,668	F74L	probably damaging	Het
Glt1d1	T	A	5: 127,657,075		probably benign	Het
Hmcn2	A	G	2: 31,400,129	T2325A	probably damaging	Het
Iffo1	A	G	6: 125,153,471	K471R	probably damaging	Het
Ireb2	G	A	9: 54,896,498	R491H	probably benign	Het
Isg20	A	G	7: 78,916,725	N141D	possibly damaging	Het
Kmt5c	G	A	7: 4,746,244	R100H	probably benign	Het
Lrp1b	T	C	2: 40,750,914	D3506G	probably benign	Het
Mmrn1	A	C	6: 60,977,115	K793N	probably benign	Het
Muc16	A	G	9: 18,510,534	V8227A	possibly damaging	Het
Myh2	C	T	11: 67,192,598		probably benign	Het
Nalcn	T	A	14: 123,290,960		probably benign	Het
Nfia	T	C	4: 98,063,136	V400A	probably damaging	Het
Nxph4	T	A	10: 127,526,258	T255S	possibly damaging	Het
Olfm5	G	A	7: 104,154,179	T359I	probably damaging	Het
Olfr141	A	G	2: 86,806,651	M116T	probably damaging	Het
Olfr393	T	C	11: 73,848,041	Y28C	probably benign	Het
Olfr907	A	G	9: 38,498,911	M81V	possibly damaging	Het
Olfr935	G	T	9: 38,995,198	P79Q	probably damaging	Het
Pak7	T	C	2: 136,097,579	I545M	possibly damaging	Het
Pcdhb15	T	C	18: 37,475,895	F727L	probably benign	Het
Pds5b	T	A	5: 150,723,353	N202K	possibly damaging	Het
Phlpp1	T	A	1: 106,392,934	I1553N	probably benign	Het
Pink1	T	C	4: 138,317,918	T282A	probably damaging	Het
Prdm2	A	G	4: 143,111,670	F1706S	probably benign	Het
Pycr1	G	A	11: 120,641,526		probably benign	Het
Skint9	A	G	4: 112,414,001	S71P	probably damaging	Het
Smad1	A	G	8: 79,371,770		probably benign	Het
Snapc5	A	T	9: 64,180,507	E33D	probably damaging	Het
Snrnp40	T	C	4: 130,362,650	L56P	probably damaging	Het
Stab2	A	C	10: 86,872,610	I1697S	probably damaging	Het
Tfap2a	G	T	13: 40,717,412		probably benign	Het
Tmem57	T	C	4: 134,828,116	K349E	probably benign	Het
Tph2	A	G	10: 115,080,120		probably benign	Het
Triml1	A	G	8: 43,141,040	V118A	probably benign	Het
Ttbk2	T	A	2: 120,750,242	T538S	probably benign	Het
Ttn	A	G	2: 76,715,272	V32569A	possibly damaging	Het
U2af1	T	A	17: 31,648,192	Y158F	probably benign	Het
Usp7	A	T	16: 8,716,632		probably benign	Het
Vdr	A	G	15: 97,869,351	S179P	probably benign	Het
Vps13d	A	C	4: 145,065,827	S663A	probably benign	Het
Wdr62	T	A	7: 30,241,462	T844S	possibly damaging	Het
Wipi1	C	T	11: 109,577,130	R407Q	probably damaging	Het
Zbtb43	A	G	2: 33,453,897	C439R	probably damaging	Het
Zfp507	T	A	7: 35,791,746	H704L	probably damaging	Het
Zzef1	G	A	11: 72,895,242	R2080K	probably damaging	Het

Other mutations in Lrrn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Lrrn4	APN	2	132870817	missense	probably damaging	1.00
IGL00661:Lrrn4	APN	2	132870668	missense	probably benign	0.08
IGL01542:Lrrn4	APN	2	132879472	missense	probably benign
IGL01584:Lrrn4	APN	2	132878076	missense	probably damaging	1.00
IGL01723:Lrrn4	APN	2	132870061	missense	possibly damaging	0.79
R0270:Lrrn4	UTSW	2	132870719	missense	probably benign	0.01
R0348:Lrrn4	UTSW	2	132870443	missense	probably benign	0.02
R0701:Lrrn4	UTSW	2	132870160	missense	probably benign	0.02
R1465:Lrrn4	UTSW	2	132872075	missense	probably damaging	1.00
R1465:Lrrn4	UTSW	2	132872075	missense	probably damaging	1.00
R1664:Lrrn4	UTSW	2	132869966	missense	probably damaging	1.00
R1987:Lrrn4	UTSW	2	132870443	missense	probably benign	0.02
R3409:Lrrn4	UTSW	2	132879861	missense	unknown
R3743:Lrrn4	UTSW	2	132869866	splice site	probably null
R4678:Lrrn4	UTSW	2	132879568	missense	probably benign	0.16
R5770:Lrrn4	UTSW	2	132872156	missense	probably damaging	1.00
R6438:Lrrn4	UTSW	2	132870142	missense	probably damaging	1.00
R6511:Lrrn4	UTSW	2	132870326	missense	probably benign	0.06
R6880:Lrrn4	UTSW	2	132872112	missense	probably damaging	0.96
R7132:Lrrn4	UTSW	2	132879693	nonsense	probably null
R7273:Lrrn4	UTSW	2	132879829	missense	unknown
R7424:Lrrn4	UTSW	2	132869743	missense	possibly damaging	0.90
R7710:Lrrn4	UTSW	2	132879531	missense	probably benign	0.00
R7980:Lrrn4	UTSW	2	132878176	missense	probably damaging	1.00
R8133:Lrrn4	UTSW	2	132878014	missense	probably damaging	1.00
R8229:Lrrn4	UTSW	2	132869887	missense	probably damaging	1.00
R8489:Lrrn4	UTSW	2	132879444	missense	probably benign	0.20
R8956:Lrrn4	UTSW	2	132872091	missense	probably damaging	1.00
R9337:Lrrn4	UTSW	2	132870632	missense	probably benign	0.11
R9342:Lrrn4	UTSW	2	132870370	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGAAGCTAAGCCAGTGCCTGCTAC -3'
(R):5'- TCCCTCTTCCTGAGAAAGATGCCC -3'

Sequencing Primer
(F):5'- GAGACTGTCTGAGACCTTCCTAAG -3'
(R):5'- GATGCCCAGGCTGAAGAC -3'

Posted On

2013-05-23