Mutagenetix > Incidental Mutation

Incidental Mutation 'R4663:Lrrc3b'

353042

Institutional Source

Beutler Lab

Gene Symbol

Lrrc3b

Ensembl Gene

ENSMUSG00000045201

Gene Name

leucine rich repeat containing 3B

Synonyms

LRP15

MMRRC Submission

041921-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4663 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7030776-7112248 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 15358220 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 129 (H129N)

Ref Sequence

ENSEMBL: ENSMUSP00000153616 (fasta)

Gene Model

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

AlphaFold

Q8VCH9

Predicted Effect

probably benign
Transcript: ENSMUST00000055211
AA Change: H129N

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000059463
Gene: ENSMUSG00000045201
AA Change: H129N

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: H129N

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000128624
Gene: ENSMUSG00000045201
AA Change: H129N

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: H129N

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aqr	A	T	2: 113,992,147 (GRCm39)	Y76*	probably null	Het
Armc5	C	A	7: 127,837,717 (GRCm39)	A140E	probably benign	Het
Auts2	T	C	5: 131,468,476 (GRCm39)	H947R	probably damaging	Het
Bag2	T	C	1: 33,786,074 (GRCm39)	T83A	probably damaging	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Bean1	A	G	8: 104,937,799 (GRCm39)	Y126C	probably damaging	Het
Cars1	T	C	7: 143,129,697 (GRCm39)	E330G	probably damaging	Het
Ccdc40	A	G	11: 119,122,332 (GRCm39)	I45V	probably benign	Het
Cd320	G	A	17: 34,067,152 (GRCm39)	G214R	probably null	Het
Ckm	G	A	7: 19,153,419 (GRCm39)	V237M	probably damaging	Het
Cplane1	T	C	15: 8,247,939 (GRCm39)	V1496A	probably benign	Het
Cspg4	T	C	9: 56,793,960 (GRCm39)	V565A	possibly damaging	Het
Dnaaf10	T	C	11: 17,182,853 (GRCm39)	V338A	probably benign	Het
Eddm13	T	G	7: 6,261,624 (GRCm39)	I35S	possibly damaging	Het
Ephb6	A	G	6: 41,594,799 (GRCm39)	Y638C	probably damaging	Het
Fat2	G	C	11: 55,187,039 (GRCm39)	S1269*	probably null	Het
Fbxo3	T	C	2: 103,883,820 (GRCm39)	V348A	probably damaging	Het
Gas6	G	A	8: 13,520,254 (GRCm39)	P478L	probably damaging	Het
Herc1	T	C	9: 66,340,660 (GRCm39)	S1670P	probably damaging	Het
Hnrnpk	C	A	13: 58,542,331 (GRCm39)	R281L	probably damaging	Het
Ifih1	C	A	2: 62,439,563 (GRCm39)	C488F	probably benign	Het
Ift172	T	C	5: 31,441,559 (GRCm39)	K192E	probably benign	Het
Ighv5-9	T	A	12: 113,625,440 (GRCm39)	Q101L	probably benign	Het
Igkv3-2	G	T	6: 70,675,863 (GRCm39)	M57I	probably benign	Het
Insyn2a	A	T	7: 134,500,877 (GRCm39)	Y409*	probably null	Het
Itpr2	A	G	6: 146,274,671 (GRCm39)	F837S	probably damaging	Het
L3mbtl3	T	C	10: 26,213,715 (GRCm39)	Y237C	unknown	Het
Lats1	G	A	10: 7,588,347 (GRCm39)	C988Y	probably damaging	Het
Lgals3	T	A	14: 47,619,079 (GRCm39)		probably null	Het
Lrriq1	T	C	10: 102,899,273 (GRCm39)	H1656R	possibly damaging	Het
Lypd6	T	G	2: 50,063,623 (GRCm39)	Y43*	probably null	Het
Mettl25b	A	G	3: 87,835,055 (GRCm39)	S82P	probably damaging	Het
Mical2	A	G	7: 111,927,884 (GRCm39)	D674G	possibly damaging	Het
Msi1	G	A	5: 115,588,334 (GRCm39)	R284Q	probably damaging	Het
Mybpc2	T	C	7: 44,155,066 (GRCm39)	E947G	probably damaging	Het
Nat14	T	A	7: 4,927,446 (GRCm39)	L206Q	probably damaging	Het
Nup88	A	T	11: 70,856,672 (GRCm39)		probably null	Het
Or11g27	A	T	14: 50,771,061 (GRCm39)	Y64F	probably damaging	Het
Or4k15	A	G	14: 50,364,939 (GRCm39)	R302G	probably benign	Het
Or8g19	A	T	9: 39,056,145 (GRCm39)	I250F	probably damaging	Het
Pdcl	T	C	2: 37,245,778 (GRCm39)	E75G	probably damaging	Het
Phf14	A	G	6: 11,953,421 (GRCm39)	I387V	possibly damaging	Het
Phf3	G	A	1: 30,860,296 (GRCm39)	R845W	probably damaging	Het
Pm20d1	T	C	1: 131,726,340 (GRCm39)	I59T	probably damaging	Het
Prkd1	C	T	12: 50,466,631 (GRCm39)		probably null	Het
Psmb2	T	C	4: 126,571,558 (GRCm39)	L4P	probably damaging	Het
Pttg1	T	A	11: 43,315,677 (GRCm39)	K46*	probably null	Het
Ryr2	T	C	13: 11,764,395 (GRCm39)	H1401R	possibly damaging	Het
Septin4	T	A	11: 87,458,429 (GRCm39)	Y268N	probably damaging	Het
Sh3d19	G	A	3: 86,030,570 (GRCm39)	D696N	probably benign	Het
Slc16a2	T	C	X: 102,751,585 (GRCm39)	T274A	probably benign	Het
Slc26a6	G	A	9: 108,735,106 (GRCm39)	A335T	probably damaging	Het
Slc49a3	T	C	5: 108,590,011 (GRCm39)	M464V	probably benign	Het
Slc6a5	C	A	7: 49,588,146 (GRCm39)	Y493*	probably null	Het
Slf1	A	T	13: 77,274,723 (GRCm39)	S37R	probably damaging	Het
Smoc1	G	A	12: 81,214,376 (GRCm39)	G264S	probably damaging	Het
Snapc4	T	C	2: 26,264,193 (GRCm39)	E280G	possibly damaging	Het
Snx25	G	A	8: 46,488,616 (GRCm39)	T913M	probably damaging	Het
Snx7	T	C	3: 117,594,528 (GRCm39)	T408A	probably benign	Het
Spdya	T	A	17: 71,885,339 (GRCm39)	S264R	probably benign	Het
Spg11	A	T	2: 121,928,580 (GRCm39)		probably null	Het
Suz12	T	A	11: 79,904,350 (GRCm39)	L230Q	probably damaging	Het
Szt2	A	G	4: 118,234,881 (GRCm39)		probably benign	Het
Tenm3	C	A	8: 48,689,005 (GRCm39)	R2194L	probably damaging	Het
Tmed8	T	A	12: 87,221,005 (GRCm39)	I194F	probably damaging	Het
Tmem79	T	A	3: 88,240,751 (GRCm39)	T66S	probably damaging	Het
Trappc1	T	A	11: 69,216,337 (GRCm39)	S118T	probably benign	Het
Ttn	C	T	2: 76,569,225 (GRCm39)	V27223I	probably benign	Het
Ttn	T	C	2: 76,606,839 (GRCm39)	T18024A	probably damaging	Het
Vmn2r15	C	T	5: 109,441,940 (GRCm39)	M164I	probably benign	Het
Vmn2r53	T	A	7: 12,334,901 (GRCm39)	Y253F	probably benign	Het
Zfand6	C	T	7: 84,267,093 (GRCm39)	R163H	probably benign	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
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
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'- TTACACAGGTCAGCGTCATTGG -3'
(R):5'- CCCTCCTGAAACAGTTTTGC -3'

Sequencing Primer
(F):5'- CAGCGTCATTGGCAGCATTGAG -3'
(R):5'- GCTGTATTTGGACTCCAATCAG -3'

Posted On

2015-10-08