Mutagenetix > Incidental Mutation

Incidental Mutation 'R8113:Lrrc3b'

631025

Institutional Source

Beutler Lab

Gene Symbol

Lrrc3b

Ensembl Gene

ENSMUSG00000045201

Gene Name

leucine rich repeat containing 3B

Synonyms

LRP15

MMRRC Submission

067542-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8113 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7030776-7112248 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 15358232 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 125 (I125L)

Ref Sequence

ENSEMBL: ENSMUSP00000059463 (fasta)

Gene Model

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

AlphaFold

Q8VCH9

Predicted Effect

probably benign
Transcript: ENSMUST00000055211
AA Change: I125L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000059463
Gene: ENSMUSG00000045201
AA Change: I125L

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 benign
Transcript: ENSMUST00000163937
AA Change: I125L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000128624
Gene: ENSMUSG00000045201
AA Change: I125L

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 benign
Transcript: ENSMUST00000223700
AA Change: I125L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

96% (72/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	T	C	8: 89,048,431 (GRCm39)	S625P	probably damaging	Het
Agpat1	T	C	17: 34,830,586 (GRCm39)	V170A	probably damaging	Het
Alg9	C	T	9: 50,720,080 (GRCm39)	Q519*	probably null	Het
Apol8	C	T	15: 77,634,336 (GRCm39)	R80H	probably benign	Het
Arhgap25	G	T	6: 87,465,287 (GRCm39)	S118*	probably null	Het
Arhgap30	T	A	1: 171,225,086 (GRCm39)	Y47*	probably null	Het
Arhgap42	C	T	9: 9,011,434 (GRCm39)	D451N	probably damaging	Het
Cabp2	T	A	19: 4,135,582 (GRCm39)	F91I	probably damaging	Het
Ccdc30	T	C	4: 119,230,943 (GRCm39)	E108G	probably benign	Het
Cfap99	T	C	5: 34,458,763 (GRCm39)	S53P	probably damaging	Het
Clec5a	C	T	6: 40,556,361 (GRCm39)	R135H	possibly damaging	Het
Cops8	T	G	1: 90,531,325 (GRCm39)	D18E	probably benign	Het
Cped1	A	T	6: 22,233,480 (GRCm39)	M779L	possibly damaging	Het
Cyp4x1	G	A	4: 114,967,263 (GRCm39)	H438Y	probably damaging	Het
Disc1	A	T	8: 125,815,014 (GRCm39)	T293S	probably benign	Het
Ercc1	T	C	7: 19,084,102 (GRCm39)	L113S	probably damaging	Het
Ermp1	G	T	19: 29,593,196 (GRCm39)	N765K	probably benign	Het
Fam83c	A	G	2: 155,676,740 (GRCm39)	I10T	probably benign	Het
Farp1	T	C	14: 121,513,008 (GRCm39)	V788A	probably benign	Het
Fbn1	C	G	2: 125,319,489 (GRCm39)	G92R	probably damaging	Het
Fsd1	T	A	17: 56,302,881 (GRCm39)	M328K	probably benign	Het
Fzd3	C	A	14: 65,440,262 (GRCm39)	S636I	probably benign	Het
Gapvd1	A	G	2: 34,594,330 (GRCm39)	S886P	probably damaging	Het
Gatad2b	T	A	3: 90,249,029 (GRCm39)	D22E	probably benign	Het
Gm7168	A	T	17: 14,169,238 (GRCm39)	K202*	probably null	Het
Gmps	T	C	3: 63,887,690 (GRCm39)	I54T	probably damaging	Het
Gp6	A	G	7: 4,397,114 (GRCm39)	I107T	probably benign	Het
Gpat2	T	C	2: 127,273,267 (GRCm39)	V217A	possibly damaging	Het
Hdlbp	T	A	1: 93,344,917 (GRCm39)	I863F	probably damaging	Het
Hmcn1	A	C	1: 150,624,841 (GRCm39)	I1021M	possibly damaging	Het
Igkv6-14	C	T	6: 70,412,087 (GRCm39)	A66T	probably benign	Het
Ippk	C	T	13: 49,599,818 (GRCm39)	P226S		Het
Iqch	A	G	9: 63,361,855 (GRCm39)	I925T	probably benign	Het
Kcnt1	A	G	2: 25,791,223 (GRCm39)	E522G	possibly damaging	Het
Kremen2	C	G	17: 23,962,776 (GRCm39)	E103D	probably damaging	Het
Lig4	G	T	8: 10,023,485 (GRCm39)	N98K	probably benign	Het
Lrrc4	T	C	6: 28,829,902 (GRCm39)	D148G	probably damaging	Het
Lrsam1	A	G	2: 32,837,901 (GRCm39)	Y218H	possibly damaging	Het
Mmrn2	G	A	14: 34,119,593 (GRCm39)	V191I	probably benign	Het
Nadk	T	A	4: 155,655,127 (GRCm39)		probably null	Het
Napb	C	A	2: 148,551,351 (GRCm39)	A61S	possibly damaging	Het
Ncan	T	A	8: 70,561,221 (GRCm39)	D582V	possibly damaging	Het
Ncl	T	C	1: 86,284,364 (GRCm39)	D244G	possibly damaging	Het
Nlrp14	A	G	7: 106,791,715 (GRCm39)	N800S	possibly damaging	Het
Nlrp9b	C	T	7: 19,753,260 (GRCm39)	T55M	probably benign	Het
Nobox	G	A	6: 43,282,951 (GRCm39)	T228I	probably benign	Het
Npffr1	C	A	10: 61,449,750 (GRCm39)	P8H	possibly damaging	Het
Nrg2	T	C	18: 36,154,156 (GRCm39)	Y587C	probably damaging	Het
Nsd1	T	G	13: 55,393,434 (GRCm39)	V448G	probably benign	Het
Or2w1	T	A	13: 21,317,371 (GRCm39)	V142D	probably benign	Het
Or5e1	G	T	7: 108,354,438 (GRCm39)	C125F	probably damaging	Het
Or8k41	T	G	2: 86,313,412 (GRCm39)	I225L	probably damaging	Het
Or9g20	A	G	2: 85,630,011 (GRCm39)	L201P	probably damaging	Het
Peg10	T	TCCC	6: 4,756,451 (GRCm39)		probably benign	Het
Ppp5c	T	C	7: 16,742,932 (GRCm39)	T229A	probably benign	Het
Pramel51	T	C	12: 88,143,850 (GRCm39)	Y329C	probably benign	Het
Prr5	C	T	15: 84,577,993 (GRCm39)	R101C	probably damaging	Het
Psg22	T	C	7: 18,456,987 (GRCm39)	M290T	probably benign	Het
Pzp	C	T	6: 128,490,694 (GRCm39)		probably null	Het
Rapgef6	T	C	11: 54,516,784 (GRCm39)	V347A	probably benign	Het
Rttn	A	T	18: 89,029,040 (GRCm39)	H586L	probably damaging	Het
Sema3f	A	T	9: 107,565,275 (GRCm39)	I259K	possibly damaging	Het
Sgpp1	A	T	12: 75,763,374 (GRCm39)	L269Q	probably damaging	Het
Slc22a8	A	C	19: 8,582,903 (GRCm39)	I195L	probably benign	Het
Slc35a5	T	C	16: 44,962,551 (GRCm39)	T425A	unknown	Het
Spata31e1	G	A	13: 49,939,548 (GRCm39)	R721C	probably benign	Het
Stard13	G	A	5: 150,986,970 (GRCm39)	T180I	probably damaging	Het
Stard9	G	A	2: 120,534,911 (GRCm39)	G3723S	probably benign	Het
Svil	A	T	18: 5,062,385 (GRCm39)	T902S	probably damaging	Het
Tnfaip8l3	T	A	9: 53,934,421 (GRCm39)	R185W	probably damaging	Het
Ttn	A	T	2: 76,590,393 (GRCm39)	D21105E	probably benign	Het
Vmn2r109	T	A	17: 20,774,729 (GRCm39)	M209L	probably benign	Het
Vmn2r125	A	G	4: 156,703,642 (GRCm39)	H340R	probably damaging	Het
Zfp946	T	C	17: 22,674,481 (GRCm39)	C412R	probably 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
R4929:Lrrc3b	UTSW	14	15,357,888 (GRCm38)	missense	probably damaging	1.00
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
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'- CGTGCTCATCCAACACTGATG -3'
(R):5'- GTCACCTGTAGCAATGCAAATCTC -3'

Sequencing Primer
(F):5'- TCCAACACTGATGTCTTGCAAATC -3'
(R):5'- GAGATCTCCCTCCTGAAACAGTTTTG -3'

Posted On

2020-06-30