Mutagenetix > Incidental Mutation

Incidental Mutation 'R5732:Lrfn3'

451489

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

043347-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5732 (G1)

Quality Score

135

Status

Not validated

Chromosome

Chromosomal Location

30054939-30062197 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30059031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 398 (D398G)

Ref Sequence

ENSEMBL: ENSMUSP00000037616 (fasta)

Gene Model

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

AlphaFold

Q8BLY3

Predicted Effect

probably benign
Transcript: ENSMUST00000046351
AA Change: D398G

PolyPhen 2 Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000037616
Gene: ENSMUSG00000036957
AA Change: D398G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083048

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.8%
20x: 94.5%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1b	T	A	9: 118,977,462 (GRCm39)	M407L	possibly damaging	Het
Acsf2	T	C	11: 94,460,768 (GRCm39)		probably benign	Het
Apob	A	G	12: 8,060,353 (GRCm39)	D2945G	probably benign	Het
Atg2a	T	C	19: 6,307,490 (GRCm39)	Y1475H	probably damaging	Het
Capn5	A	G	7: 97,778,593 (GRCm39)	L342P	possibly damaging	Het
Ccdc152	A	G	15: 3,321,860 (GRCm39)		probably null	Het
Ccdc7b	A	G	8: 129,799,195 (GRCm39)	M91V	possibly damaging	Het
Cd3g	T	C	9: 44,884,929 (GRCm39)	E105G	possibly damaging	Het
Cdadc1	A	G	14: 59,834,360 (GRCm39)	L44P	probably damaging	Het
Cdh23	A	G	10: 60,167,096 (GRCm39)	V1852A	possibly damaging	Het
Cdx2	T	C	5: 147,238,833 (GRCm39)	Q252R	possibly damaging	Het
Cps1	A	T	1: 67,196,923 (GRCm39)	I325F	probably benign	Het
Dctn1	G	A	6: 83,174,931 (GRCm39)		probably null	Het
Dcun1d3	T	C	7: 119,457,256 (GRCm39)	K152R	probably benign	Het
Dhx35	G	A	2: 158,673,705 (GRCm39)	V379M	probably damaging	Het
Fam171a2	T	C	11: 102,330,807 (GRCm39)	E224G	possibly damaging	Het
Flt1	G	T	5: 147,571,293 (GRCm39)	Y671*	probably null	Het
Fndc3b	T	C	3: 27,515,922 (GRCm39)	Y628C	probably damaging	Het
Foxj3	A	T	4: 119,443,008 (GRCm39)	D144V	probably damaging	Het
Gp2	A	G	7: 119,048,331 (GRCm39)	V429A	probably damaging	Het
Hydin	T	A	8: 111,178,690 (GRCm39)	I1095N	probably benign	Het
Kat2a	A	G	11: 100,599,066 (GRCm39)	F571S	probably damaging	Het
Kcnq1	C	A	7: 142,702,493 (GRCm39)		probably benign	Het
Letm2	A	C	8: 26,077,341 (GRCm39)	S250A	possibly damaging	Het
Llgl1	T	C	11: 60,600,286 (GRCm39)	V545A	probably benign	Het
Lrig1	G	T	6: 94,676,520 (GRCm39)	C49*	probably null	Het
Mug1	A	G	6: 121,855,452 (GRCm39)	I929V	probably benign	Het
Naaa	G	A	5: 92,411,314 (GRCm39)	T291I	probably damaging	Het
Ndufaf1	G	A	2: 119,490,521 (GRCm39)	Q180*	probably null	Het
Nr3c1	A	T	18: 39,548,752 (GRCm39)	H741Q	probably damaging	Het
Nsun5	T	C	5: 135,400,204 (GRCm39)	L109P	probably damaging	Het
Pacsin3	A	G	2: 91,090,605 (GRCm39)	E18G	probably damaging	Het
Rpgr	G	A	X: 10,032,511 (GRCm39)	P857L	probably benign	Het
Siglec1	G	A	2: 130,916,188 (GRCm39)	T1254M	probably benign	Het
Slc35a4	A	T	18: 36,815,394 (GRCm39)	T75S	probably benign	Het
Slc52a2	T	C	15: 76,425,274 (GRCm39)	I434T	probably benign	Het
Slco2a1	C	T	9: 102,927,455 (GRCm39)	T116I	probably damaging	Het
Snrpd2	T	C	7: 18,886,538 (GRCm39)		probably null	Het
Tbc1d32	T	A	10: 55,964,489 (GRCm39)	L903F	probably damaging	Het
Tex10	G	T	4: 48,460,046 (GRCm39)	T435K	probably damaging	Het
Tmem266	T	C	9: 55,288,120 (GRCm39)	S66P	probably damaging	Het
Top2b	A	T	14: 16,400,106 (GRCm38)	E581D	possibly damaging	Het
Uggt1	A	T	1: 36,200,852 (GRCm39)		probably null	Het
Wdr47	T	A	3: 108,540,472 (GRCm39)	Y622*	probably null	Het
Zfp644	A	T	5: 106,784,989 (GRCm39)	H519Q	probably damaging	Het
Zfp687	T	C	3: 94,918,528 (GRCm39)	M415V	possibly 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
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
R8991:Lrfn3	UTSW	7	30,059,244 (GRCm39)	missense	probably damaging	1.00
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'- GATCTGGTACATGCGGATGC -3'
(R):5'- ACTGCAACTGTGAGCTGGTG -3'

Sequencing Primer
(F):5'- TACATGCGGATGCCTGGGAC -3'
(R):5'- CGAGTGCGTTGGGTATCACC -3'

Posted On

2017-01-03