Mutagenetix > Incidental Mutation

Incidental Mutation 'R4929:Lrrc3b'

381103

Institutional Source

Beutler Lab

Gene Symbol

Lrrc3b

Ensembl Gene

ENSMUSG00000045201

Gene Name

leucine rich repeat containing 3B

Synonyms

LRP15

MMRRC Submission

042530-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4929 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7030776-7112248 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 15357888 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 239 (L239F)

Ref Sequence

ENSEMBL: ENSMUSP00000153616 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055211] [ENSMUST00000163937] [ENSMUST00000223700]

AlphaFold

Q8VCH9

Predicted Effect

probably damaging
Transcript: ENSMUST00000055211
AA Change: L239F

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

SMART Domains

Protein: ENSMUSP00000059463
Gene: ENSMUSG00000045201
AA Change: L239F

Domain	Start	End	E-Value	Type
LRRNT	33	68	1.85e-8	SMART
LRR	67	86	3e1	SMART
LRR_TYP	87	110	8.94e-3	SMART
LRR	115	135	3.86e0	SMART
Blast:LRRCT	145	196	2e-8	BLAST
transmembrane domain	203	225	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000163937
AA Change: L239F

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

SMART Domains

Protein: ENSMUSP00000128624
Gene: ENSMUSG00000045201
AA Change: L239F

Domain	Start	End	E-Value	Type
LRRNT	33	68	1.85e-8	SMART
LRR	67	86	3e1	SMART
LRR_TYP	87	110	8.94e-3	SMART
LRR	115	135	3.86e0	SMART
Blast:LRRCT	145	196	2e-8	BLAST
transmembrane domain	203	225	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000223700
AA Change: L239F

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

Meta Mutation Damage Score

0.2363

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a tumor suppressor, with lowered expression levels found in gastric, renal, colorectal, lung, and breast cancer tissues. The promoter of this gene is frequently hypermethylated in these cancer tissues, although the hypermethylation does not appear to be the cause of the reduced expression of this gene. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal olfactory epithelium and bulb. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	G	7: 29,273,467 (GRCm39)		noncoding transcript	Het
Abcd3	A	T	3: 121,562,395 (GRCm39)		probably null	Het
Adamts12	C	T	15: 11,259,108 (GRCm39)	R551C	probably damaging	Het
Adamtsl4	A	G	3: 95,585,315 (GRCm39)	C818R	probably damaging	Het
Arfgef3	T	A	10: 18,506,599 (GRCm39)	Q842L	probably benign	Het
Aurka	A	T	2: 172,212,326 (GRCm39)	V17E	probably benign	Het
Cdh24	C	T	14: 54,870,973 (GRCm39)	V132I	probably benign	Het
Cep57l1	T	C	10: 41,621,910 (GRCm39)	D2G	possibly damaging	Het
Cntn5	T	A	9: 9,976,400 (GRCm39)		probably null	Het
Col10a1	T	C	10: 34,271,120 (GRCm39)	I364T	probably benign	Het
Dpp6	G	A	5: 27,254,785 (GRCm39)	A67T	probably benign	Het
Dym	T	A	18: 75,376,357 (GRCm39)	V583E	probably damaging	Het
Efcab5	T	G	11: 76,994,209 (GRCm39)	K1259N	probably benign	Het
Ehbp1	T	G	11: 22,189,169 (GRCm39)	I78L	possibly damaging	Het
Epha1	C	A	6: 42,341,533 (GRCm39)	A469S	probably benign	Het
Fam135a	T	C	1: 24,069,081 (GRCm39)	D596G	probably benign	Het
Filip1	T	C	9: 79,727,029 (GRCm39)	N530S	probably benign	Het
Gm57858	G	A	3: 36,089,487 (GRCm39)	L146F	probably damaging	Het
Grhl2	A	G	15: 37,361,046 (GRCm39)	N610S	probably benign	Het
Haus6	T	C	4: 86,513,670 (GRCm39)	I331V	probably benign	Het
Ints2	G	T	11: 86,103,479 (GRCm39)	N1192K	possibly damaging	Het
Itga5	A	G	15: 103,261,662 (GRCm39)	V445A	probably benign	Het
Itga9	C	A	9: 118,636,317 (GRCm39)	D82E	probably damaging	Het
Jam2	G	A	16: 84,619,750 (GRCm39)		probably benign	Het
Klhl32	T	A	4: 24,709,030 (GRCm39)	I112F	probably damaging	Het
Lepr	A	G	4: 101,672,314 (GRCm39)	I1113V	probably benign	Het
Lzic	T	A	4: 149,572,585 (GRCm39)		probably null	Het
Mxra8	T	A	4: 155,927,118 (GRCm39)	F351I	probably damaging	Het
Naa40	A	G	19: 7,207,347 (GRCm39)	F126L	probably damaging	Het
Nbeal1	C	T	1: 60,277,813 (GRCm39)	S733F	probably damaging	Het
Olr1	T	C	6: 129,477,044 (GRCm39)	T74A	probably damaging	Het
Or52x1	A	G	7: 104,853,232 (GRCm39)	I106T	probably damaging	Het
Or5aq7	A	G	2: 86,938,527 (GRCm39)	F68S	possibly damaging	Het
Or5h17	A	C	16: 58,820,582 (GRCm39)	Y178S	probably damaging	Het
Pgam5	A	T	5: 110,413,691 (GRCm39)	V130D	probably damaging	Het
Pop4	A	G	7: 37,965,573 (GRCm39)	C115R	probably damaging	Het
Prpf18	A	T	2: 4,629,348 (GRCm39)		probably null	Het
Psg16	G	A	7: 16,829,031 (GRCm39)	R205H	possibly damaging	Het
Ptgr1	C	A	4: 58,981,879 (GRCm39)	A53S	probably benign	Het
Shank2	A	G	7: 143,965,008 (GRCm39)	D1451G	probably benign	Het
Slfn10-ps	A	G	11: 82,920,345 (GRCm39)		noncoding transcript	Het
Sox8	G	A	17: 25,789,330 (GRCm39)	A56V	probably benign	Het
Ssr3	A	G	3: 65,295,175 (GRCm39)	S113P	probably damaging	Het
Stx16	T	C	2: 173,938,721 (GRCm39)	Y296H	possibly damaging	Het
Tfcp2	A	T	15: 100,426,370 (GRCm39)	N60K	probably benign	Het
Thada	T	C	17: 84,751,654 (GRCm39)	T441A	probably benign	Het
Trf	G	T	9: 103,105,074 (GRCm39)		probably benign	Het
Vamp2	T	A	11: 68,979,488 (GRCm39)		probably benign	Het
Vmn2r105	A	T	17: 20,448,280 (GRCm39)	D181E	probably benign	Het
Vmn2r12	A	T	5: 109,239,544 (GRCm39)	Y340N	probably damaging	Het
Wasf2	C	A	4: 132,923,170 (GRCm39)	D493E	unknown	Het
Wdfy4	T	C	14: 32,769,213 (GRCm39)	D2084G	possibly damaging	Het
Zfp229	T	A	17: 21,965,354 (GRCm39)	I528N	probably damaging	Het
Zfp703	T	A	8: 27,468,879 (GRCm39)	V181E	possibly damaging	Het

Other mutations in Lrrc3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01761:Lrrc3b	APN	14	15,358,098 (GRCm38)	missense	probably benign	0.00
IGL03141:Lrrc3b	APN	14	15,358,390 (GRCm38)	missense	probably damaging	1.00
Klutz	UTSW	14	15,357,946 (GRCm38)	missense	probably damaging	1.00
BB008:Lrrc3b	UTSW	14	15,358,018 (GRCm38)	missense	probably benign	0.36
BB018:Lrrc3b	UTSW	14	15,358,018 (GRCm38)	missense	probably benign	0.36
PIT4810001:Lrrc3b	UTSW	14	15,358,273 (GRCm38)	missense	probably benign	0.17
R0371:Lrrc3b	UTSW	14	15,358,560 (GRCm38)	nonsense	probably null
R1750:Lrrc3b	UTSW	14	15,358,601 (GRCm38)	missense	probably benign	0.00
R2280:Lrrc3b	UTSW	14	15,358,076 (GRCm38)	missense	probably damaging	0.99
R4663:Lrrc3b	UTSW	14	15,358,220 (GRCm38)	missense	probably benign	0.01
R5344:Lrrc3b	UTSW	14	15,358,591 (GRCm38)	missense	probably damaging	1.00
R6537:Lrrc3b	UTSW	14	15,357,946 (GRCm38)	missense	probably damaging	1.00
R7301:Lrrc3b	UTSW	14	15,357,934 (GRCm38)	missense	probably damaging	1.00
R7931:Lrrc3b	UTSW	14	15,358,018 (GRCm38)	missense	probably benign	0.36
R8113:Lrrc3b	UTSW	14	15,358,232 (GRCm38)	missense	probably benign	0.01
R8220:Lrrc3b	UTSW	14	15,358,004 (GRCm38)	missense	probably damaging	1.00
R8834:Lrrc3b	UTSW	14	15,358,562 (GRCm38)	missense	possibly damaging	0.95
R8955:Lrrc3b	UTSW	14	15,358,159 (GRCm38)	missense	probably damaging	1.00
R9445:Lrrc3b	UTSW	14	15,358,552 (GRCm38)	missense	probably damaging	1.00
R9522:Lrrc3b	UTSW	14	15,358,423 (GRCm38)	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- GTTTGTGTAAAGTTCAACAGTGGC -3'
(R):5'- ACATCAGTGTTGGATGAGCAC -3'

Sequencing Primer
(F):5'- GTTCAACAGTGGCATGATTCC -3'
(R):5'- TGAGCACGCTGGGAGAC -3'

Posted On

2016-04-15