Mutagenetix > Incidental Mutation

Incidental Mutation 'R8991:Lrfn3'

684406

Institutional Source

Beutler Lab

Gene Symbol

Lrfn3

Ensembl Gene

ENSMUSG00000036957

Gene Name

leucine rich repeat and fibronectin type III domain containing 3

Synonyms

A530045B06Rik, SALM4

MMRRC Submission

068716-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8991 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30054939-30062197 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30059244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 327 (V327E)

Ref Sequence

ENSEMBL: ENSMUSP00000037616 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046351]

AlphaFold

Q8BLY3

Predicted Effect

probably damaging
Transcript: ENSMUST00000046351
AA Change: V327E

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

SMART Domains

Protein: ENSMUSP00000037616
Gene: ENSMUSG00000036957
AA Change: V327E

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
LRRNT	27	63	7.74e-2	SMART
LRR_TYP	82	105	5.81e-2	SMART
LRR_TYP	106	129	5.06e-2	SMART
LRR_TYP	130	153	6.42e-4	SMART
LRR	158	178	9.24e1	SMART
LRR	179	202	2.67e-1	SMART
LRR	203	226	1.12e1	SMART
LRRCT	249	294	2.72e-3	SMART
IGc2	308	373	2.23e-10	SMART
FN3	423	506	4e-1	SMART
transmembrane domain	538	560	N/A	INTRINSIC
low complexity region	592	606	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased frequency of excitatory and inhibitory postsynaptic freuqency and synapse density, [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	A	T	18: 6,620,232 (GRCm39)	K54I	probably damaging	Het
Ankrd34b	T	A	13: 92,575,725 (GRCm39)	I319K	probably benign	Het
Art2b	G	A	7: 101,229,590 (GRCm39)	A103V	probably damaging	Het
Atmin	T	G	8: 117,679,665 (GRCm39)	F126C	probably damaging	Het
Cc2d1b	A	T	4: 108,482,143 (GRCm39)	N139I	probably benign	Het
Cep128	T	C	12: 91,200,987 (GRCm39)	Y794C	probably damaging	Het
Cic	T	A	7: 24,988,885 (GRCm39)	V1829D	probably damaging	Het
Cnep1r1	G	A	8: 88,856,447 (GRCm39)	R99Q	unknown	Het
Cpq	G	C	15: 33,213,353 (GRCm39)	R124P	probably damaging	Het
Crtc3	A	T	7: 80,327,191 (GRCm39)	V45D	probably damaging	Het
Dchs2	T	G	3: 83,036,143 (GRCm39)	S297A	probably benign	Het
Dnah9	A	T	11: 65,777,506 (GRCm39)	S3681T	probably damaging	Het
Dock8	T	C	19: 25,165,731 (GRCm39)	Y1872H	possibly damaging	Het
Fbn2	T	A	18: 58,239,395 (GRCm39)	Q558L	probably damaging	Het
Fn1	A	G	1: 71,676,491 (GRCm39)	V580A	probably benign	Het
Fscn3	C	T	6: 28,434,472 (GRCm39)	T349I	probably benign	Het
Fsip2	T	C	2: 82,815,370 (GRCm39)	V3701A	probably benign	Het
Hectd4	T	C	5: 121,496,347 (GRCm39)	V3913A	probably benign	Het
Htt	G	A	5: 35,063,062 (GRCm39)	G2898D	probably damaging	Het
Ighv3-4	T	G	12: 114,217,266 (GRCm39)	E108D	probably benign	Het
Irx5	G	T	8: 93,087,135 (GRCm39)	E356*	probably null	Het
Kcnh6	A	G	11: 105,909,971 (GRCm39)	I499V	possibly damaging	Het
Kcnj10	T	A	1: 172,196,963 (GRCm39)	I159N	probably damaging	Het
Kcnmb4	T	A	10: 116,282,238 (GRCm39)	H153L	probably benign	Het
Klhl8	T	C	5: 104,018,404 (GRCm39)	N409S	probably benign	Het
Ksr1	A	G	11: 78,936,014 (GRCm39)	S117P	probably benign	Het
Mrc2	C	A	11: 105,229,740 (GRCm39)	H724Q	probably benign	Het
Mtf2	T	A	5: 108,248,805 (GRCm39)	F372L	probably benign	Het
Nipbl	A	T	15: 8,320,997 (GRCm39)	D2703E	probably damaging	Het
Nova1	T	C	12: 46,863,800 (GRCm39)	Y50C	unknown	Het
Ofcc1	T	A	13: 40,296,277 (GRCm39)	Y519F	probably benign	Het
Or2aj5	T	A	16: 19,424,511 (GRCm39)	K301N	probably damaging	Het
Or4f54	T	C	2: 111,123,348 (GRCm39)	I245T	probably damaging	Het
Or4f61	A	T	2: 111,922,682 (GRCm39)	D121E	probably damaging	Het
Or4p19	A	C	2: 88,242,723 (GRCm39)	M93R	probably damaging	Het
Pclo	C	T	5: 14,719,325 (GRCm39)	A1154V	unknown	Het
Phrf1	A	G	7: 140,823,671 (GRCm39)	D4G	unknown	Het
Ppp4r3b	A	T	11: 29,123,306 (GRCm39)	M1L	probably damaging	Het
Prmt7	A	G	8: 106,943,874 (GRCm39)		probably null	Het
Retnlg	A	G	16: 48,694,038 (GRCm39)	T65A	possibly damaging	Het
Sbf2	T	C	7: 109,911,896 (GRCm39)	N1763D	probably benign	Het
Scn7a	A	G	2: 66,514,588 (GRCm39)	F1062S	possibly damaging	Het
Scube3	A	C	17: 28,383,027 (GRCm39)	K402Q	probably damaging	Het
Skic2	T	A	17: 35,059,166 (GRCm39)	D1067V	probably damaging	Het
Slc25a22	C	A	7: 141,013,871 (GRCm39)	D30Y	probably damaging	Het
Smim17	A	T	7: 6,427,720 (GRCm39)	Q2L	possibly damaging	Het
Son	G	T	16: 91,453,366 (GRCm39)	M704I	probably benign	Het
Son	C	T	16: 91,453,608 (GRCm39)	S785F	possibly damaging	Het
Tnfrsf21	G	A	17: 43,396,299 (GRCm39)	V528M	probably benign	Het
Tnks1bp1	T	C	2: 84,894,290 (GRCm39)	S1406P	probably benign	Het
Trim21	A	T	7: 102,212,908 (GRCm39)	V130E	probably benign	Het
Try5	T	A	6: 41,289,295 (GRCm39)	I94F	probably benign	Het
Tubb4a	C	T	17: 57,388,169 (GRCm39)	V286I	probably benign	Het
Vmn1r180	T	A	7: 23,652,076 (GRCm39)	S80T	probably benign	Het
Vmn2r114	A	C	17: 23,529,286 (GRCm39)	I272S	probably damaging	Het
Vmn2r12	A	T	5: 109,234,033 (GRCm39)	Y726*	probably null	Het
Zdhhc16	T	C	19: 41,926,465 (GRCm39)	F83L	probably damaging	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	probably damaging	Het

Other mutations in Lrfn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02187:Lrfn3	APN	7	30,055,389 (GRCm39)	missense	probably damaging	0.98
R0565:Lrfn3	UTSW	7	30,060,216 (GRCm39)	missense	probably benign	0.01
R0826:Lrfn3	UTSW	7	30,059,676 (GRCm39)	missense	probably benign	0.01
R1029:Lrfn3	UTSW	7	30,055,347 (GRCm39)	missense	probably damaging	0.99
R1434:Lrfn3	UTSW	7	30,055,352 (GRCm39)	missense	possibly damaging	0.79
R1442:Lrfn3	UTSW	7	30,059,469 (GRCm39)	missense	probably benign	0.01
R2078:Lrfn3	UTSW	7	30,059,879 (GRCm39)	missense	possibly damaging	0.93
R4580:Lrfn3	UTSW	7	30,059,467 (GRCm39)	missense	probably damaging	0.99
R4883:Lrfn3	UTSW	7	30,055,238 (GRCm39)	missense	possibly damaging	0.87
R4928:Lrfn3	UTSW	7	30,060,048 (GRCm39)	missense	possibly damaging	0.77
R5000:Lrfn3	UTSW	7	30,059,805 (GRCm39)	missense	possibly damaging	0.48
R5364:Lrfn3	UTSW	7	30,055,078 (GRCm39)	missense	possibly damaging	0.91
R5732:Lrfn3	UTSW	7	30,059,031 (GRCm39)	missense	probably benign	0.22
R5857:Lrfn3	UTSW	7	30,058,863 (GRCm39)	missense	possibly damaging	0.94
R7999:Lrfn3	UTSW	7	30,059,449 (GRCm39)	missense	probably damaging	1.00
R8146:Lrfn3	UTSW	7	30,059,304 (GRCm39)	missense	probably benign	0.06
R8249:Lrfn3	UTSW	7	30,059,298 (GRCm39)	nonsense	probably null
R8937:Lrfn3	UTSW	7	30,059,451 (GRCm39)	missense	probably benign	0.01
R9568:Lrfn3	UTSW	7	30,058,916 (GRCm39)	missense	probably benign	0.41
X0064:Lrfn3	UTSW	7	30,059,886 (GRCm39)	missense	probably benign	0.17
Z1088:Lrfn3	UTSW	7	30,059,626 (GRCm39)	missense	probably damaging	1.00
Z1177:Lrfn3	UTSW	7	30,060,084 (GRCm39)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- TGATCTGGCCACTGAACAAG -3'
(R):5'- ACTGCAACTGTGAGCTGGTG -3'

Sequencing Primer
(F):5'- CACTGAACAAGAGCCGCTGTG -3'
(R):5'- AGCTGGTGTGGCTGCGAC -3'

Posted On

2021-10-11