Mutagenetix > Incidental Mutation

Incidental Mutation 'R6297:Lman2'

508856

Institutional Source

Beutler Lab

Gene Symbol

Lman2

Ensembl Gene

ENSMUSG00000021484

Gene Name

lectin, mannose-binding 2

Synonyms

1110003H06Rik, GP36B, VIP36, 1300009F09Rik

MMRRC Submission

044464-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.215) question?

Stock #

R6297 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55491646-55510596 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55496244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 267 (N267S)

Ref Sequence

ENSEMBL: ENSMUSP00000021940 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021940]

AlphaFold

Q9DBH5

Predicted Effect

probably damaging
Transcript: ENSMUST00000021940
AA Change: N267S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000021940
Gene: ENSMUSG00000021484
AA Change: N267S

Domain	Start	End	E-Value	Type
signal peptide	1	46	N/A	INTRINSIC
Pfam:Lectin_leg-like	54	280	6.6e-104	PFAM
transmembrane domain	325	347	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224517

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225066

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

98% (45/46)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type I transmembrane lectin that shuttles between the endoplasmic reticulum, the Golgi apparatus and the plasma membrane. The encoded protein binds high mannose type glycoproteins and may facilitate their sorting, trafficking and quality control. [provided by RefSeq, Oct 2008]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,926,179 (GRCm39)	V1205A	probably benign	Het
Adgra3	G	A	5: 50,118,189 (GRCm39)	P1120S	probably benign	Het
Ate1	A	G	7: 130,105,570 (GRCm39)	V316A	probably damaging	Het
Bpifa1	A	G	2: 153,986,180 (GRCm39)	I102V	probably benign	Het
Catsperb	A	G	12: 101,557,655 (GRCm39)		probably null	Het
Ccdc47	T	C	11: 106,094,427 (GRCm39)	Y324C	probably damaging	Het
Cdh22	T	C	2: 164,985,564 (GRCm39)	K341E	possibly damaging	Het
Cenpb	A	G	2: 131,020,289 (GRCm39)		probably benign	Het
Dgkd	A	G	1: 87,853,866 (GRCm39)	I570V	possibly damaging	Het
Dhx32	A	T	7: 133,344,529 (GRCm39)	Y27N	probably damaging	Het
Dnah10	A	G	5: 124,852,144 (GRCm39)	D1824G	possibly damaging	Het
Fbxo8	T	A	8: 57,022,323 (GRCm39)	C112S	probably damaging	Het
Fndc3a	T	C	14: 72,800,980 (GRCm39)	D590G	probably damaging	Het
Gm19965	T	A	1: 116,750,410 (GRCm39)	I697N	possibly damaging	Het
Greb1l	G	A	18: 10,469,494 (GRCm39)	D170N	probably damaging	Het
Haus5	C	T	7: 30,358,401 (GRCm39)	W298*	probably null	Het
Igfn1	A	T	1: 135,892,399 (GRCm39)		probably null	Het
Ighg2b	T	C	12: 113,270,512 (GRCm39)	E206G	unknown	Het
Ints15	A	T	5: 143,293,787 (GRCm39)	L230Q	possibly damaging	Het
Lrfn5	A	T	12: 61,890,348 (GRCm39)	I546F	probably benign	Het
Lrrc4c	T	C	2: 97,459,964 (GRCm39)	S197P	probably damaging	Het
Mbtd1	C	T	11: 93,823,058 (GRCm39)	H493Y	possibly damaging	Het
Mdga2	A	G	12: 66,553,027 (GRCm39)	Y793H	probably damaging	Het
Mdn1	C	T	4: 32,730,054 (GRCm39)	R2799*	probably null	Het
Mup13	T	A	4: 61,181,634 (GRCm39)	I148F	probably benign	Het
Or2aj5	A	C	16: 19,424,680 (GRCm39)	V246G	possibly damaging	Het
Or5m10	A	G	2: 85,717,159 (GRCm39)	N5S	probably benign	Het
Or8g53	A	T	9: 39,683,522 (GRCm39)	D191E	possibly damaging	Het
Pdgfra	A	G	5: 75,334,135 (GRCm39)	K403E	possibly damaging	Het
Pigz	A	T	16: 31,763,755 (GRCm39)	Y271F	probably damaging	Het
Plekhg4	T	C	8: 106,104,472 (GRCm39)	L517P	probably damaging	Het
Rnf20	T	C	4: 49,642,132 (GRCm39)	L232P	probably damaging	Het
Rpa3	C	A	6: 8,256,767 (GRCm39)	G71*	probably null	Het
Rsf1	GCG	GCGACGGCGTCG	7: 97,229,114 (GRCm39)		probably benign	Het
Rubcnl	A	G	14: 75,287,584 (GRCm39)	T623A	probably benign	Het
Sltm	A	G	9: 70,488,641 (GRCm39)	D597G	probably damaging	Het
Stpg2	T	C	3: 139,407,432 (GRCm39)	V528A	possibly damaging	Het
Supt6	C	T	11: 78,116,885 (GRCm39)	R589Q	possibly damaging	Het
Tas1r2	T	A	4: 139,389,361 (GRCm39)	M419K	possibly damaging	Het
Txndc16	T	C	14: 45,389,243 (GRCm39)	T486A	probably benign	Het
Vamp9	A	G	5: 100,089,092 (GRCm39)	Y119C	probably damaging	Het
Vmn1r185	A	G	7: 26,311,046 (GRCm39)	V153A	probably benign	Het
Vmn2r48	T	C	7: 9,668,807 (GRCm39)	N548D	probably damaging	Het
Washc5	A	G	15: 59,215,895 (GRCm39)	I378T	possibly damaging	Het
Wdr37	A	G	13: 8,892,764 (GRCm39)		probably null	Het
Xrn2	G	A	2: 146,868,490 (GRCm39)	R181H	probably damaging	Het
Ylpm1	C	G	12: 85,062,051 (GRCm39)	P651A	unknown	Het

Other mutations in Lman2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00534:Lman2	APN	13	55,499,055 (GRCm39)	missense	possibly damaging	0.91
IGL02381:Lman2	APN	13	55,499,282 (GRCm39)	missense	possibly damaging	0.77
R0331:Lman2	UTSW	13	55,500,829 (GRCm39)	missense	probably damaging	1.00
R1457:Lman2	UTSW	13	55,499,064 (GRCm39)	missense	probably benign	0.01
R1482:Lman2	UTSW	13	55,499,218 (GRCm39)	missense	possibly damaging	0.92
R2209:Lman2	UTSW	13	55,499,315 (GRCm39)	missense	probably damaging	0.99
R2347:Lman2	UTSW	13	55,500,812 (GRCm39)	missense	possibly damaging	0.91
R6132:Lman2	UTSW	13	55,510,038 (GRCm39)	missense	probably benign
R6461:Lman2	UTSW	13	55,494,728 (GRCm39)	missense	probably damaging	1.00
R7148:Lman2	UTSW	13	55,500,762 (GRCm39)	missense	probably benign	0.04
R7422:Lman2	UTSW	13	55,499,338 (GRCm39)	missense	probably damaging	1.00
R7498:Lman2	UTSW	13	55,494,790 (GRCm39)	missense	probably damaging	1.00
R7720:Lman2	UTSW	13	55,500,890 (GRCm39)	splice site	probably null
R8826:Lman2	UTSW	13	55,510,368 (GRCm39)	missense	unknown
R8872:Lman2	UTSW	13	55,496,197 (GRCm39)	missense	probably benign	0.02
R9007:Lman2	UTSW	13	55,500,773 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AACAAGGTGTCAGAGCCTCAG -3'
(R):5'- CTTCTCCACACCTAGGCTTGAG -3'

Sequencing Primer
(F):5'- CAGTAAGACAGCAACTCATTCTTTAC -3'
(R):5'- GGCTTTCACACATACTAACTTAGC -3'

Posted On

2018-04-02