Mutagenetix > Incidental Mutations

Incidental Mutation 'R5892:Lrfn5'

457256

Institutional Source

Beutler Lab

Gene Symbol

Lrfn5

Ensembl Gene

ENSMUSG00000035653

Gene Name

leucine rich repeat and fibronectin type III domain containing 5

Synonyms

MMRRC Submission

044093-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R5892 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61523150-61858342 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61843418 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 498 (T498A)

Ref Sequence

ENSEMBL: ENSMUSP00000113123 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055815] [ENSMUST00000119481]

Predicted Effect

probably damaging
Transcript: ENSMUST00000055815
AA Change: T498A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000051546
Gene: ENSMUSG00000035653
AA Change: T498A

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
LRRNT	19	55	1.11e1	SMART
LRR	74	97	3.07e-1	SMART
LRR_TYP	98	121	1.2e-3	SMART
LRR_TYP	122	145	8.94e-3	SMART
LRR	146	169	6.58e0	SMART
LRR_TYP	170	193	8.34e-3	SMART
LRR	194	218	2.47e1	SMART
LRRCT	240	285	1.65e-2	SMART
IGc2	299	364	3.53e-13	SMART
low complexity region	393	412	N/A	INTRINSIC
Blast:FN3	414	495	2e-48	BLAST
transmembrane domain	528	550	N/A	INTRINSIC
low complexity region	613	627	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000119481
AA Change: T498A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113123
Gene: ENSMUSG00000035653
AA Change: T498A

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
LRRNT	19	55	1.11e1	SMART
LRR	74	97	3.07e-1	SMART
LRR_TYP	98	121	1.2e-3	SMART
LRR_TYP	122	145	8.94e-3	SMART
LRR	146	169	6.58e0	SMART
LRR_TYP	170	193	8.34e-3	SMART
LRR	194	218	2.47e1	SMART
LRRCT	240	285	1.65e-2	SMART
IGc2	299	364	3.53e-13	SMART
low complexity region	393	412	N/A	INTRINSIC
Blast:FN3	414	495	2e-48	BLAST
transmembrane domain	528	550	N/A	INTRINSIC
low complexity region	613	627	N/A	INTRINSIC

Meta Mutation Damage Score

0.1113

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

98% (56/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the leucine-rich repeat and fibronectin type III domain-containing family of proteins. A similar protein in mouse, a glycosylated transmembrane protein, is thought to function in presynaptic differentiation. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930524J08Rik	G	T	5: 99,979,265		probably benign	Het
Abcb11	C	T	2: 69,261,500	A893T	probably damaging	Het
Adtrp	A	T	13: 41,828,206	N30K	probably benign	Het
Alms1	T	A	6: 85,620,903	S904T	probably damaging	Het
Cep170	T	A	1: 176,755,387		probably null	Het
Cntnap3	A	G	13: 64,799,180	V145A	probably damaging	Het
Dclre1a	T	C	19: 56,547,140	E4G	probably benign	Het
Depdc1a	G	C	3: 159,526,669	A686P	probably damaging	Het
Dnah7b	T	C	1: 46,337,593		probably null	Het
Enox1	A	G	14: 77,486,017		probably benign	Het
Fam107b	A	G	2: 3,778,564	E268G	probably damaging	Het
Fer1l6	A	G	15: 58,564,068	S437G	probably benign	Het
Flnb	C	A	14: 7,907,183	T1252K	probably damaging	Het
Fubp1	A	G	3: 152,218,314		probably benign	Het
Gm20402	G	A	3: 52,268,949	A50T	probably benign	Het
Gpr137b	T	C	13: 13,359,406	Y355C	probably damaging	Het
Gzmk	C	T	13: 113,173,922		probably null	Het
Ino80	A	T	2: 119,439,547		probably benign	Het
Ints8	T	C	4: 11,223,813	T677A	probably damaging	Het
Kat6a	A	G	8: 22,938,289	E1220G	probably damaging	Het
Lrp2	T	A	2: 69,442,776	T4043S	probably benign	Het
Malrd1	A	G	2: 15,614,267	N314S	probably benign	Het
Mfsd1	A	G	3: 67,589,829		probably null	Het
Muc1	C	T	3: 89,230,993	P381S	probably benign	Het
Myh2	A	T	11: 67,185,176	K730*	probably null	Het
Nat3	T	A	8: 67,547,938	N156K	probably benign	Het
Nelfe	T	C	17: 34,854,669		probably benign	Het
Nlrp1a	A	T	11: 71,099,645	L927Q	probably damaging	Het
P4ha2	A	G	11: 54,120,188	Y343C	probably damaging	Het
Pclo	A	T	5: 14,521,171	Q190L	probably damaging	Het
Pde8a	A	G	7: 81,295,691	N183S	probably damaging	Het
Plekha2	C	T	8: 25,052,365	V278I	probably benign	Het
Plekha6	G	C	1: 133,272,307	R208P	possibly damaging	Het
Plxnb1	T	C	9: 109,111,707	L1550P	probably damaging	Het
Ppox	C	T	1: 171,277,461	V385I	probably damaging	Het
Prdm16	T	C	4: 154,323,259	D1170G	possibly damaging	Het
Prmt5	A	T	14: 54,509,911	S470T	probably damaging	Het
Robo2	T	A	16: 73,895,780		probably benign	Het
Siglecg	G	A	7: 43,412,204		probably benign	Het
Slc30a5	T	C	13: 100,813,302	N367S	probably damaging	Het
Tex29	C	T	8: 11,854,288		probably benign	Het
Tmem117	T	A	15: 94,638,139	V18E	probably damaging	Het
Tmtc2	C	T	10: 105,413,505	M122I	probably benign	Het
Tpr	T	A	1: 150,407,400	N287K	probably benign	Het
Unc93b1	A	T	19: 3,943,632	D358V	probably damaging	Het
Vrk2	A	T	11: 26,534,372		probably benign	Het
Wdr24	A	T	17: 25,827,986	Q671L	probably benign	Het
Zfp110	C	T	7: 12,848,478	T351I	probably benign	Het
Zfp963	T	C	8: 69,743,377	D142G	probably benign	Het

Other mutations in Lrfn5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Lrfn5	APN	12	61844126	missense	probably benign
IGL02010:Lrfn5	APN	12	61839683	missense	probably damaging	0.96
IGL03033:Lrfn5	APN	12	61840047	missense	probably damaging	1.00
IGL03094:Lrfn5	APN	12	61839746	missense	probably benign	0.00
IGL03207:Lrfn5	APN	12	61843326	missense	probably damaging	1.00
falstaffian	UTSW	12	61843562	missense	probably benign	0.21
PIT4696001:Lrfn5	UTSW	12	61843557	missense	probably damaging	1.00
R0402:Lrfn5	UTSW	12	61840017	missense	probably benign	0.22
R0738:Lrfn5	UTSW	12	61840592	nonsense	probably null
R0744:Lrfn5	UTSW	12	61839668	missense	probably damaging	1.00
R0833:Lrfn5	UTSW	12	61839668	missense	probably damaging	1.00
R0973:Lrfn5	UTSW	12	61843437	missense	probably damaging	1.00
R0973:Lrfn5	UTSW	12	61843437	missense	probably damaging	1.00
R0974:Lrfn5	UTSW	12	61843437	missense	probably damaging	1.00
R1073:Lrfn5	UTSW	12	61840809	missense	probably damaging	1.00
R1332:Lrfn5	UTSW	12	61857528	splice site	probably benign
R1500:Lrfn5	UTSW	12	61839741	missense	probably damaging	1.00
R2039:Lrfn5	UTSW	12	61840323	missense	possibly damaging	0.82
R3834:Lrfn5	UTSW	12	61840030	missense	probably damaging	1.00
R4171:Lrfn5	UTSW	12	61843382	missense	probably damaging	1.00
R4212:Lrfn5	UTSW	12	61843820	missense	probably benign
R4394:Lrfn5	UTSW	12	61843490	missense	probably damaging	1.00
R4578:Lrfn5	UTSW	12	61843977	missense	probably benign
R4661:Lrfn5	UTSW	12	61839647	missense	probably damaging	1.00
R4730:Lrfn5	UTSW	12	61840719	missense	probably benign	0.03
R4955:Lrfn5	UTSW	12	61839978	missense	probably benign	0.29
R4968:Lrfn5	UTSW	12	61839675	missense	probably damaging	1.00
R4970:Lrfn5	UTSW	12	61839675	missense	probably damaging	1.00
R5078:Lrfn5	UTSW	12	61843874	missense	possibly damaging	0.47
R5165:Lrfn5	UTSW	12	61839624	missense	possibly damaging	0.89
R5768:Lrfn5	UTSW	12	61839723	missense	probably benign	0.44
R6133:Lrfn5	UTSW	12	61843788	missense	probably benign	0.22
R6211:Lrfn5	UTSW	12	61839470	missense	probably benign	0.00
R6297:Lrfn5	UTSW	12	61843562	missense	probably benign	0.21
R6341:Lrfn5	UTSW	12	61843582	nonsense	probably null
R6861:Lrfn5	UTSW	12	61839690	missense	probably damaging	1.00
R7179:Lrfn5	UTSW	12	61843982	missense	probably benign
R7392:Lrfn5	UTSW	12	61840304	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGACCTAAAGCCATAATGACTTTGC -3'
(R):5'- AAACGTTGCTAACCTTCGTGAC -3'

Sequencing Primer
(F):5'- GCCATAATGACTTTGCGTATATGTG -3'
(R):5'- GTGTTGCCCATTATTGTTACAAACC -3'

Posted On

2017-02-15