Mutagenetix > Incidental Mutation

Incidental Mutation 'R8498:Lrrc3'

658382

Institutional Source

Beutler Lab

Gene Symbol

Lrrc3

Ensembl Gene

ENSMUSG00000051652

Gene Name

leucine rich repeat containing 3

Synonyms

1300011L04Rik

MMRRC Submission

067940-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8498 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77733409-77738370 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77736824 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 204 (D204G)

Ref Sequence

ENSEMBL: ENSMUSP00000059570 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057608]

AlphaFold

P59034

Predicted Effect

probably damaging
Transcript: ENSMUST00000057608
AA Change: D204G

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

SMART Domains

Protein: ENSMUSP00000059570
Gene: ENSMUSG00000051652
AA Change: D204G

Domain	Start	End	E-Value	Type
LRRNT	32	68	6.53e-9	SMART
LRR	67	86	7.17e1	SMART
LRR_TYP	87	110	1.87e-5	SMART
LRR	113	135	2.14e0	SMART
Blast:LRRCT	145	197	7e-10	BLAST
transmembrane domain	204	226	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	G	T	1: 120,096,872 (GRCm39)		probably null	Het
Amigo1	A	G	3: 108,095,751 (GRCm39)	M417V	probably benign	Het
Celsr1	G	T	15: 85,823,306 (GRCm39)	Q1701K	probably benign	Het
Cfhr2	G	T	1: 139,741,219 (GRCm39)	T252K	possibly damaging	Het
Cntnap4	T	A	8: 113,602,211 (GRCm39)	V1205E	possibly damaging	Het
Ctsb	T	C	14: 63,370,881 (GRCm39)	I31T	probably benign	Het
Cyp4f13	G	C	17: 33,143,833 (GRCm39)	P497R	probably damaging	Het
Dna2	A	G	10: 62,809,094 (GRCm39)	D1062G	probably benign	Het
Dnah7a	A	C	1: 53,657,139 (GRCm39)	M879R	probably benign	Het
Gcc1	C	A	6: 28,418,029 (GRCm39)	S768I	probably benign	Het
Gm29106	T	C	1: 118,128,218 (GRCm39)	Y637H	probably damaging	Het
Gm4787	T	C	12: 81,425,840 (GRCm39)	D106G	probably damaging	Het
Gm527	T	A	12: 64,967,782 (GRCm39)	V68D	probably damaging	Het
Grm1	A	T	10: 10,955,605 (GRCm39)	Y226*	probably null	Het
Hkdc1	T	C	10: 62,221,662 (GRCm39)	R799G	probably benign	Het
Ier2	T	C	8: 85,389,353 (GRCm39)	I10V	probably damaging	Het
Ifi209	A	G	1: 173,470,069 (GRCm39)	N219S	probably benign	Het
Iqcn	T	C	8: 71,162,625 (GRCm39)	I606T	probably benign	Het
Krt88	A	G	15: 101,351,406 (GRCm39)	S138G	probably benign	Het
Mllt6	T	C	11: 97,567,688 (GRCm39)	I705T	possibly damaging	Het
Mpl	G	A	4: 118,306,207 (GRCm39)	P278S	probably benign	Het
Nkx3-2	T	C	5: 41,920,989 (GRCm39)	E100G	probably benign	Het
Or13p8	A	T	4: 118,583,822 (GRCm39)	Y126F	possibly damaging	Het
Or56b1b	A	T	7: 108,164,833 (GRCm39)	C56*	probably null	Het
Or8b12b	G	A	9: 37,684,560 (GRCm39)	V202M	probably damaging	Het
Pcdh15	G	A	10: 74,317,974 (GRCm39)	V992I	probably damaging	Het
Pcdhgc5	A	G	18: 37,953,487 (GRCm39)	N254D	probably damaging	Het
Pdgfd	A	G	9: 6,288,655 (GRCm39)	E103G	probably damaging	Het
Ppp2r1b	C	T	9: 50,778,194 (GRCm39)	R304*	probably null	Het
Pramel30	A	G	4: 144,058,233 (GRCm39)	D280G	probably benign	Het
Prdm2	G	A	4: 142,907,467 (GRCm39)	A35V	probably damaging	Het
Psd	T	C	19: 46,312,788 (GRCm39)	N194S	probably damaging	Het
Rasgef1c	A	T	11: 49,862,248 (GRCm39)	E379V	probably damaging	Het
Rnf43	A	T	11: 87,618,267 (GRCm39)	I186F	probably damaging	Het
Ros1	C	T	10: 52,055,047 (GRCm39)	C85Y	probably damaging	Het
Setd2	T	A	9: 110,378,989 (GRCm39)	L935I	probably damaging	Het
Slc2a5	A	G	4: 150,210,590 (GRCm39)	Q46R	probably benign	Het
Ss18l1	A	T	2: 179,699,968 (GRCm39)	Q276L	probably damaging	Het
Tas2r129	A	T	6: 132,928,815 (GRCm39)	M251L	probably benign	Het
Thoc1	A	G	18: 9,989,693 (GRCm39)	E458G	probably benign	Het
Wdr35	T	A	12: 9,058,626 (GRCm39)	N594K	probably damaging	Het
Zzef1	T	A	11: 72,744,148 (GRCm39)	C835S	probably damaging	Het

Other mutations in Lrrc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0568:Lrrc3	UTSW	10	77,737,419 (GRCm39)	missense	probably damaging	0.96
R1169:Lrrc3	UTSW	10	77,736,764 (GRCm39)	missense	probably damaging	1.00
R4660:Lrrc3	UTSW	10	77,729,866 (GRCm39)	unclassified	probably benign
R4915:Lrrc3	UTSW	10	77,737,253 (GRCm39)	missense	probably benign	0.37
R4917:Lrrc3	UTSW	10	77,737,253 (GRCm39)	missense	probably benign	0.37
R5439:Lrrc3	UTSW	10	77,737,299 (GRCm39)	missense	probably benign	0.00
R6217:Lrrc3	UTSW	10	77,736,843 (GRCm39)	missense	probably benign	0.00
R6921:Lrrc3	UTSW	10	77,736,866 (GRCm39)	missense	probably damaging	0.99
R7024:Lrrc3	UTSW	10	77,736,825 (GRCm39)	missense	probably damaging	1.00
R8387:Lrrc3	UTSW	10	77,737,346 (GRCm39)	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- CACCTGCTGCAGAAAGACAG -3'
(R):5'- CCACAATCCACTGCACTGTG -3'

Sequencing Primer
(F):5'- AGACAGGGTAGCCAGGCTC -3'
(R):5'- ACTGTGAGTGTGCCCTGCAG -3'

Posted On

2021-01-18