Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02187:Lrfn3'

283710

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrfn3

Ensembl Gene

ENSMUSG00000036957

Gene Name

leucine rich repeat and fibronectin type III domain containing 3

Synonyms

A530045B06Rik, SALM4

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02187

Quality Score

Status

Chromosome

Chromosomal Location

30054939-30062197 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30055389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 519 (S519P)

Ref Sequence

ENSEMBL: ENSMUSP00000037616 (fasta)

Gene Model

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

AlphaFold

Q8BLY3

Predicted Effect

probably damaging
Transcript: ENSMUST00000046351
AA Change: S519P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000037616
Gene: ENSMUSG00000036957
AA Change: S519P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208824

Coding Region Coverage

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	C	A	8: 114,439,826 (GRCm39)	E922D	possibly damaging	Het
Asxl3	T	A	18: 22,658,035 (GRCm39)	M2015K	probably damaging	Het
C8a	C	A	4: 104,719,933 (GRCm39)	R15L	probably damaging	Het
Catsperg2	A	G	7: 29,420,791 (GRCm39)	V47A	probably benign	Het
Cdhr2	C	T	13: 54,881,523 (GRCm39)	T1081I	possibly damaging	Het
Cenatac	C	T	9: 44,322,084 (GRCm39)		probably benign	Het
Cep85	T	A	4: 133,858,616 (GRCm39)	M752L	possibly damaging	Het
Cxcr3	T	A	X: 100,776,483 (GRCm39)	S60C	probably damaging	Het
Cyp24a1	T	A	2: 170,336,013 (GRCm39)	N208I	probably damaging	Het
Cyp2c38	A	G	19: 39,424,649 (GRCm39)	I223T	probably benign	Het
Dennd6a	A	G	14: 26,328,081 (GRCm39)	I35V	probably benign	Het
Emb	T	G	13: 117,405,507 (GRCm39)		probably benign	Het
Fbxo3	T	C	2: 103,858,295 (GRCm39)	Y30H	probably damaging	Het
Fnbp1l	G	A	3: 122,362,449 (GRCm39)	R120*	probably null	Het
Galnt2	T	C	8: 125,032,245 (GRCm39)		probably benign	Het
Gckr	T	C	5: 31,464,768 (GRCm39)		probably benign	Het
Gpr101	A	G	X: 56,546,841 (GRCm39)	F103S	probably damaging	Het
Gprasp1	T	A	X: 134,699,912 (GRCm39)	V35E	probably damaging	Het
Ift80	C	A	3: 68,892,789 (GRCm39)	W133L	probably damaging	Het
Impdh1	C	A	6: 29,207,086 (GRCm39)		probably benign	Het
Ino80	T	C	2: 119,275,938 (GRCm39)		probably benign	Het
Kansl1	A	T	11: 104,269,657 (GRCm39)		probably null	Het
Klhl20	C	T	1: 160,937,280 (GRCm39)	V32I	probably benign	Het
Mrpl51	A	G	6: 125,170,294 (GRCm39)	N100S	probably benign	Het
Mybpc3	T	C	2: 90,965,797 (GRCm39)	I1203T	probably benign	Het
Nbr1	A	G	11: 101,460,185 (GRCm39)	I394V	possibly damaging	Het
Nfasc	G	A	1: 132,498,219 (GRCm39)	T1155M	probably damaging	Het
Or7g34	T	A	9: 19,478,393 (GRCm39)	T96S	probably benign	Het
Pan3	T	C	5: 147,463,398 (GRCm39)	I440T	probably benign	Het
Patz1	T	C	11: 3,241,134 (GRCm39)	L174P	probably damaging	Het
Paxx	A	G	2: 25,350,668 (GRCm39)	L62P	probably damaging	Het
Plekhh1	T	C	12: 79,119,592 (GRCm39)	S972P	probably damaging	Het
Ppp1r13b	G	T	12: 111,801,472 (GRCm39)	T404K	probably damaging	Het
Prkaa2	T	C	4: 104,904,363 (GRCm39)	N238S	probably benign	Het
Prpf6	T	C	2: 181,257,809 (GRCm39)	Y94H	probably damaging	Het
Rtn4	T	C	11: 29,658,291 (GRCm39)	I815T	possibly damaging	Het
Slc44a5	A	G	3: 153,968,554 (GRCm39)	T582A	probably benign	Het
Slitrk3	A	G	3: 72,957,605 (GRCm39)	L389S	probably damaging	Het
Srp54b	T	A	12: 55,299,560 (GRCm39)	M297K	probably benign	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het
Zmym4	T	A	4: 126,764,066 (GRCm39)	I1325L	probably damaging	Het
Zswim2	C	A	2: 83,753,982 (GRCm39)	R226L	probably damaging	Het

Other mutations in Lrfn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-04-16