Mutagenetix > Incidental Mutation

Incidental Mutation 'R9244:Lrrn2'

701127

Institutional Source

Beutler Lab

Gene Symbol

Lrrn2

Ensembl Gene

ENSMUSG00000026443

Gene Name

leucine rich repeat protein 2, neuronal

Synonyms

NLRR-2, 5730406J09Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9244 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

132808093-132867743 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 132865058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 41 (Y41C)

Ref Sequence

ENSEMBL: ENSMUSP00000027706 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027706]

AlphaFold

Q6PHP6

Predicted Effect

probably damaging
Transcript: ENSMUST00000027706
AA Change: Y41C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027706
Gene: ENSMUSG00000026443
AA Change: Y41C

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
LRRNT	28	73	2.22e-2	SMART
LRR	92	115	3.86e0	SMART
LRR	116	139	1.08e-1	SMART
LRR_TYP	140	163	3.21e-4	SMART
LRR	164	187	1.33e-1	SMART
LRR	188	211	5.89e1	SMART
LRR	212	235	1.66e1	SMART
LRR	236	259	4.98e-1	SMART
LRR	260	283	5.26e0	SMART
LRR	309	333	5.56e0	SMART
LRR	334	357	2.17e-1	SMART
LRRCT	369	421	3.13e-3	SMART
IGc2	436	504	9.99e-13	SMART
FN3	525	607	3.49e0	SMART
transmembrane domain	629	651	N/A	INTRINSIC

Meta Mutation Damage Score

0.7323

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the leucine-rich repeat superfamily. This gene was found to be amplified and overexpressed in malignant gliomas. The encoded protein has homology with other proteins that function as cell-adhesion molecules or as signal transduction receptors and is a candidate for the target gene in the 1q32.1 amplicon in malignant gliomas. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibited numerous neurological abnormalities when compared with controls. [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
Abca13	A	G	11: 9,241,577 (GRCm39)	I1147V	probably benign	Het
Adcy10	A	G	1: 165,370,679 (GRCm39)	T653A	probably benign	Het
App	A	G	16: 84,759,629 (GRCm39)	I656T	probably damaging	Het
Arnt	T	A	3: 95,397,879 (GRCm39)	I574N	possibly damaging	Het
Cdc42	T	C	4: 137,056,391 (GRCm39)	T75A	probably benign	Het
Cdh23	C	A	10: 60,249,442 (GRCm39)	K822N	possibly damaging	Het
Chrnb3	T	A	8: 27,884,594 (GRCm39)	L444I	unknown	Het
Ctnnbl1	G	T	2: 157,678,583 (GRCm39)	K395N	possibly damaging	Het
Dmxl1	T	A	18: 50,026,316 (GRCm39)	I1808K	probably benign	Het
Dnajb8	C	A	6: 88,199,884 (GRCm39)	P140Q	probably damaging	Het
Dock5	G	A	14: 67,996,563 (GRCm39)	R1727W	probably damaging	Het
Dscam	G	A	16: 96,486,429 (GRCm39)	T1082I	possibly damaging	Het
Eaf1	T	C	14: 31,219,766 (GRCm39)		probably benign	Het
Elapor2	A	G	5: 9,460,700 (GRCm39)	Y207C	probably damaging	Het
Enpp3	T	C	10: 24,654,689 (GRCm39)	D663G	probably damaging	Het
Epha5	A	G	5: 84,265,441 (GRCm39)	V451A	probably benign	Het
Erap1	G	A	13: 74,821,903 (GRCm39)		probably null	Het
Esco2	A	G	14: 66,059,088 (GRCm39)	W530R	probably damaging	Het
Fhip1b	A	G	7: 105,038,870 (GRCm39)	V123A	possibly damaging	Het
Fhod3	T	C	18: 25,248,922 (GRCm39)	I1367T	probably damaging	Het
Fryl	T	C	5: 73,348,862 (GRCm39)		probably benign	Het
Get1	A	G	16: 95,955,383 (GRCm39)	T147A	probably benign	Het
Gm42669	A	G	5: 107,656,370 (GRCm39)	T295A	possibly damaging	Het
Harbi1	A	G	2: 91,543,040 (GRCm39)	N167S	probably damaging	Het
Hfm1	A	C	5: 107,022,766 (GRCm39)	N945K	probably damaging	Het
Hook3	A	G	8: 26,561,084 (GRCm39)		probably null	Het
Htr1f	G	T	16: 64,746,857 (GRCm39)	T145K	probably benign	Het
Igf2bp2	A	C	16: 21,886,901 (GRCm39)	S453A	possibly damaging	Het
Ipo4	A	T	14: 55,871,799 (GRCm39)	W116R	probably damaging	Het
Jak1	T	C	4: 101,015,040 (GRCm39)	H917R	probably benign	Het
Klrb1b	A	T	6: 128,792,245 (GRCm39)	C189*	probably null	Het
Mcmdc2	C	T	1: 9,985,835 (GRCm39)	T127I	probably damaging	Het
Mtch1	C	A	17: 29,566,626 (GRCm39)	A46S	unknown	Het
Ndufb5	C	A	3: 32,795,906 (GRCm39)	Q33K	probably null	Het
Nufip2	T	C	11: 77,583,475 (GRCm39)	V463A	probably damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or2r3	T	A	6: 42,448,537 (GRCm39)	I192F	possibly damaging	Het
Or5p62	A	G	7: 107,771,852 (GRCm39)	I33T	probably benign	Het
Or6d12	G	A	6: 116,492,782 (GRCm39)	V15I	probably benign	Het
Or8j3c	A	T	2: 86,253,423 (GRCm39)	V199E	probably damaging	Het
Pira13	T	C	7: 3,825,226 (GRCm39)	D472G	unknown	Het
Ppip5k1	A	C	2: 121,164,932 (GRCm39)	S972A	probably benign	Het
Prl8a2	A	T	13: 27,534,982 (GRCm39)	M86L	probably benign	Het
Prorsd1	T	C	11: 29,463,271 (GRCm39)	I164V	probably benign	Het
Ptgs1	A	G	2: 36,130,724 (GRCm39)	T208A	probably damaging	Het
Ptpn3	A	T	4: 57,254,915 (GRCm39)		probably null	Het
Reln	T	C	5: 22,120,151 (GRCm39)	R2834G	probably damaging	Het
Shc4	G	T	2: 125,497,589 (GRCm39)	Y373*	probably null	Het
Skor1	A	T	9: 63,049,524 (GRCm39)		probably null	Het
Slc9a4	T	C	1: 40,658,249 (GRCm39)	S591P	probably damaging	Het
Stat2	A	G	10: 128,118,634 (GRCm39)	E389G	possibly damaging	Het
Trav14n-3	C	A	14: 53,608,004 (GRCm39)	D111E	probably damaging	Het
Unc5c	A	G	3: 141,533,370 (GRCm39)	S873G	probably benign	Het
Vmn1r210	T	C	13: 23,012,089 (GRCm39)	I66V	probably benign	Het
Vmn2r117	T	A	17: 23,696,589 (GRCm39)	I273F	probably damaging	Het
Vmn2r95	T	A	17: 18,672,189 (GRCm39)	M714K	possibly damaging	Het
Zfp235	A	G	7: 23,839,919 (GRCm39)	T113A	probably benign	Het
Zranb1	T	G	7: 132,585,640 (GRCm39)	L696R	probably damaging	Het

Other mutations in Lrrn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01387:Lrrn2	APN	1	132,866,096 (GRCm39)	missense	possibly damaging	0.89
IGL01407:Lrrn2	APN	1	132,864,965 (GRCm39)	missense	probably damaging	1.00
IGL01636:Lrrn2	APN	1	132,864,959 (GRCm39)	missense	possibly damaging	0.95
IGL02134:Lrrn2	APN	1	132,865,555 (GRCm39)	missense	possibly damaging	0.69
IGL02142:Lrrn2	APN	1	132,866,983 (GRCm39)	missense	possibly damaging	0.86
IGL03240:Lrrn2	APN	1	132,866,065 (GRCm39)	missense	possibly damaging	0.53
R0226:Lrrn2	UTSW	1	132,865,558 (GRCm39)	missense	probably damaging	1.00
R0612:Lrrn2	UTSW	1	132,865,466 (GRCm39)	missense	probably damaging	1.00
R1185:Lrrn2	UTSW	1	132,866,959 (GRCm39)	missense	probably benign	0.00
R1185:Lrrn2	UTSW	1	132,866,959 (GRCm39)	missense	probably benign	0.00
R1185:Lrrn2	UTSW	1	132,866,959 (GRCm39)	missense	probably benign	0.00
R1969:Lrrn2	UTSW	1	132,866,972 (GRCm39)	missense	probably benign	0.00
R2087:Lrrn2	UTSW	1	132,865,489 (GRCm39)	missense	probably damaging	1.00
R3923:Lrrn2	UTSW	1	132,866,230 (GRCm39)	missense	probably benign	0.45
R4006:Lrrn2	UTSW	1	132,865,478 (GRCm39)	missense	probably damaging	1.00
R4022:Lrrn2	UTSW	1	132,866,852 (GRCm39)	missense	probably benign
R4091:Lrrn2	UTSW	1	132,865,390 (GRCm39)	nonsense	probably null
R4092:Lrrn2	UTSW	1	132,865,390 (GRCm39)	nonsense	probably null
R4719:Lrrn2	UTSW	1	132,866,915 (GRCm39)	missense	probably benign
R5285:Lrrn2	UTSW	1	132,866,983 (GRCm39)	missense	possibly damaging	0.86
R5681:Lrrn2	UTSW	1	132,864,899 (GRCm39)	start gained	probably benign
R5791:Lrrn2	UTSW	1	132,865,505 (GRCm39)	missense	probably benign	0.00
R5916:Lrrn2	UTSW	1	132,865,538 (GRCm39)	missense	probably damaging	1.00
R6646:Lrrn2	UTSW	1	132,866,794 (GRCm39)	missense	probably benign
R7021:Lrrn2	UTSW	1	132,866,522 (GRCm39)	missense	probably damaging	1.00
R7686:Lrrn2	UTSW	1	132,866,332 (GRCm39)	missense	probably benign	0.04
R7811:Lrrn2	UTSW	1	132,866,939 (GRCm39)	missense	probably benign
R7869:Lrrn2	UTSW	1	132,867,116 (GRCm39)	missense	unknown
R8004:Lrrn2	UTSW	1	132,865,489 (GRCm39)	missense	probably damaging	1.00
R8195:Lrrn2	UTSW	1	132,865,082 (GRCm39)	missense	probably damaging	1.00
R8815:Lrrn2	UTSW	1	132,866,831 (GRCm39)	missense	possibly damaging	0.87
R8948:Lrrn2	UTSW	1	132,866,104 (GRCm39)	missense	probably benign	0.39
R9244:Lrrn2	UTSW	1	132,865,237 (GRCm39)	missense	probably damaging	1.00
R9325:Lrrn2	UTSW	1	132,865,241 (GRCm39)	missense	probably damaging	1.00
Z1177:Lrrn2	UTSW	1	132,866,716 (GRCm39)	missense	probably benign	0.00
Z1177:Lrrn2	UTSW	1	132,865,636 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGTGTAGAATGACTGCCCTG -3'
(R):5'- CTGTGAGGTTGGCCAAGTAG -3'

Sequencing Primer
(F):5'- TGTAGAATGACTGCCCTGAGAGG -3'
(R):5'- AGGCAAGCTCAGTCTGGTCTATC -3'

Posted On

2022-03-25