Mutagenetix > Incidental Mutation

Incidental Mutation 'R8146:Lrfn3'

632805

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

067574-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8146 (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 G at 30059304 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 307 (V307A)

Ref Sequence

ENSEMBL: ENSMUSP00000037616 (fasta)

Gene Model

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

AlphaFold

Q8BLY3

Predicted Effect

probably benign
Transcript: ENSMUST00000046351
AA Change: V307A

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000037616
Gene: ENSMUSG00000036957
AA Change: V307A

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: 99.8%
3x: 99.6%
10x: 98.6%
20x: 95.2%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	T	G	2: 19,498,814 (GRCm39)	E393A	possibly damaging	Het
4930550C14Rik	A	G	9: 53,334,270 (GRCm39)	D171G	probably damaging	Het
Abca13	T	C	11: 9,347,829 (GRCm39)	Y3561H	probably damaging	Het
Adgra2	T	A	8: 27,604,202 (GRCm39)	V464D	probably damaging	Het
Adgrl1	C	A	8: 84,657,618 (GRCm39)	T408N	possibly damaging	Het
Anks1b	G	A	10: 90,143,560 (GRCm39)	R523Q	probably damaging	Het
Anks6	C	A	4: 47,043,605 (GRCm39)	A375S	unknown	Het
Bbs10	T	A	10: 111,136,396 (GRCm39)	I503K	probably benign	Het
Birc2	A	G	9: 7,818,797 (GRCm39)	I598T	probably damaging	Het
Cbl	A	T	9: 44,076,171 (GRCm39)	D339E	probably damaging	Het
Cdh4	C	A	2: 179,515,871 (GRCm39)	Q350K	possibly damaging	Het
Cep78	A	G	19: 15,933,727 (GRCm39)	L617P	probably damaging	Het
Cnbd2	T	G	2: 156,170,281 (GRCm39)	V122G	probably damaging	Het
Crem	A	T	18: 3,288,007 (GRCm39)	N158K	possibly damaging	Het
Cul1	T	C	6: 47,472,027 (GRCm39)	V56A	possibly damaging	Het
Dop1b	T	A	16: 93,546,827 (GRCm39)	I277N	possibly damaging	Het
Exoc3	T	C	13: 74,340,784 (GRCm39)	D340G	probably benign	Het
Exoc6b	A	C	6: 84,885,176 (GRCm39)	D254E	probably benign	Het
Fyttd1	A	G	16: 32,722,862 (GRCm39)	K268E	probably damaging	Het
Gbp8	T	A	5: 105,178,844 (GRCm39)	N157I	probably benign	Het
Hacd1	T	A	2: 14,049,605 (GRCm39)	S118C	probably damaging	Het
Hcn4	A	C	9: 58,731,027 (GRCm39)	E78A	unknown	Het
Inpp5e	T	A	2: 26,289,274 (GRCm39)	T549S	probably benign	Het
Kcnh4	T	C	11: 100,646,105 (GRCm39)	N281S	probably damaging	Het
Kdm5b	A	G	1: 134,552,864 (GRCm39)	D1280G	probably benign	Het
Mafb	A	G	2: 160,208,298 (GRCm39)	L100P	probably damaging	Het
Med24	C	T	11: 98,608,940 (GRCm39)	G119R	probably benign	Het
Mvp	G	T	7: 126,586,171 (GRCm39)	P866Q	probably benign	Het
Or51l4	A	G	7: 103,404,510 (GRCm39)	I94T	probably damaging	Het
Phykpl	T	C	11: 51,476,408 (GRCm39)	Y43H	probably damaging	Het
Prag1	T	G	8: 36,571,364 (GRCm39)	L649R	probably damaging	Het
Ptgdr2	T	C	19: 10,918,361 (GRCm39)	F293L	probably damaging	Het
Rasip1	T	G	7: 45,279,704 (GRCm39)	S316A	possibly damaging	Het
Rlf	G	A	4: 121,004,429 (GRCm39)	S1627L	probably benign	Het
Rtl1	T	C	12: 109,557,145 (GRCm39)	R1565G	probably benign	Het
Sart3	G	A	5: 113,886,018 (GRCm39)	T572M	probably damaging	Het
Sec24b	G	T	3: 129,789,573 (GRCm39)	S816*	probably null	Het
Slamf1	C	T	1: 171,619,887 (GRCm39)	P279L	probably benign	Het
Slc18a1	C	A	8: 69,495,401 (GRCm39)	V368F	possibly damaging	Het
Tap1	A	T	17: 34,408,206 (GRCm39)	D194V	probably damaging	Het
Tuba1c	A	G	15: 98,935,496 (GRCm39)	Y319C	probably damaging	Het
Unc79	T	A	12: 103,036,416 (GRCm39)	I579N	probably damaging	Het
Zbtb22	G	T	17: 34,135,956 (GRCm39)	V34L	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
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'- GTGAAAGTGCCGCCATCTTC -3'
(R):5'- TTGGCACGACTGGACATGAC -3'

Sequencing Primer
(F):5'- TTCCGGCTCAGTGACCAGTAG -3'
(R):5'- CTGGCCTTTGGGGGAAAC -3'

Posted On

2020-06-30