Mutagenetix > Incidental Mutation

Incidental Mutation 'R0930:Lsamp'

80818

Institutional Source

Beutler Lab

Gene Symbol

Lsamp

Ensembl Gene

ENSMUSG00000061080

Gene Name

limbic system-associated membrane protein

Synonyms

B130007O04Rik, D930023J12Rik, Lam, Lamp

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R0930 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39804723-42002042 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 41709327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 86 (G86S)

Ref Sequence

ENSEMBL: ENSMUSP00000139667 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078873] [ENSMUST00000099761] [ENSMUST00000187695]

AlphaFold

Q8BLK3

Predicted Effect

probably benign
Transcript: ENSMUST00000078873
AA Change: G69S

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000077913
Gene: ENSMUSG00000061080
AA Change: G69S

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
IG	38	129	1.81e-10	SMART
IGc2	144	204	3.7e-16	SMART
IGc2	230	297	2.12e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000099761
AA Change: G69S

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000097349
Gene: ENSMUSG00000061080
AA Change: G69S

Domain	Start	End	E-Value	Type
low complexity region	12	28	N/A	INTRINSIC
IG	38	129	1.81e-10	SMART
IGc2	144	204	3.7e-16	SMART
IGc2	230	297	2.12e-16	SMART
transmembrane domain	313	335	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187695
AA Change: G86S

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000139667
Gene: ENSMUSG00000061080
AA Change: G86S

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
IG	55	146	7.6e-13	SMART
IGc2	161	221	1.5e-18	SMART
IGc2	247	314	8.6e-19	SMART
transmembrane domain	330	352	N/A	INTRINSIC

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the immunoglobulin LAMP, OBCAM and neurotrimin (IgLON) family of proteins. The encoded preproprotein is proteolytically processed to generate a neuronal surface glycoprotein. This protein may act as a selective homophilic adhesion molecule during axon guidance and neuronal growth in the developing limbic system. The encoded protein may also function as a tumor suppressor and may play a role in neuropsychiatric disorders. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for mutations in this gene are hyperresponsive to novel environments. Mice homozygous for another knock-out allele exhibit reduced barbering, whisker trimming, anxiety, dominance, and aggression. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	G	T	17: 84,990,705 (GRCm39)	V16L	probably benign	Het
Adamts18	A	T	8: 114,432,028 (GRCm39)		probably null	Het
Agpat4	A	T	17: 12,417,723 (GRCm39)	E88V	probably damaging	Het
Ahcyl2	A	C	6: 29,870,627 (GRCm39)		probably null	Het
Ankrd2	T	A	19: 42,032,292 (GRCm39)		probably null	Het
Anxa6	A	T	11: 54,885,214 (GRCm39)		probably null	Het
Bpi	A	G	2: 158,103,346 (GRCm39)	I114V	possibly damaging	Het
Cacna1c	A	T	6: 118,652,857 (GRCm39)	I772N	probably damaging	Het
Cacna2d1	A	G	5: 16,570,860 (GRCm39)	N1045D	possibly damaging	Het
Caprin2	T	C	6: 148,785,009 (GRCm39)		probably null	Het
Cars1	T	A	7: 143,124,307 (GRCm39)	H373L	probably damaging	Het
Ccdc191	G	T	16: 43,751,618 (GRCm39)	G316V	probably damaging	Het
Cd244a	T	A	1: 171,404,801 (GRCm39)		probably null	Het
Ces1a	C	T	8: 93,749,044 (GRCm39)	D456N	probably benign	Het
Cul3	A	T	1: 80,267,835 (GRCm39)	M102K	probably damaging	Het
Dact1	A	G	12: 71,365,234 (GRCm39)	R672G	probably damaging	Het
Dapk1	T	C	13: 60,905,262 (GRCm39)	F991L	probably benign	Het
Dlg5	G	A	14: 24,185,645 (GRCm39)	P1920L	probably damaging	Het
Eme2	G	A	17: 25,111,892 (GRCm39)	S263F	probably damaging	Het
Exosc4	A	G	15: 76,211,734 (GRCm39)	I14M	probably benign	Het
Ezr	G	A	17: 7,021,398 (GRCm39)	R180*	probably null	Het
Fcgbpl1	A	T	7: 27,839,555 (GRCm39)	Y456F	probably damaging	Het
Fyb1	A	T	15: 6,668,309 (GRCm39)	I501F	probably damaging	Het
Hdac5	G	T	11: 102,095,472 (GRCm39)	P383Q	probably benign	Het
Hmx3	A	T	7: 131,144,813 (GRCm39)	H41L	probably benign	Het
Krt36	A	G	11: 99,994,225 (GRCm39)	F284S	probably damaging	Het
L1td1	A	G	4: 98,625,862 (GRCm39)	N686D	probably damaging	Het
Myh8	A	G	11: 67,196,824 (GRCm39)	E1819G	possibly damaging	Het
Myo7a	A	T	7: 97,747,463 (GRCm39)	I129N	probably damaging	Het
Nckap1	A	T	2: 80,384,593 (GRCm39)	C114S	probably benign	Het
Nphp4	T	G	4: 152,622,512 (GRCm39)	L599R	probably benign	Het
Nrcam	A	G	12: 44,596,667 (GRCm39)	I301V	probably benign	Het
Or6b2b	A	G	1: 92,419,127 (GRCm39)	S117P	possibly damaging	Het
Os9	C	T	10: 126,932,924 (GRCm39)	R547Q	probably damaging	Het
Oxtr	A	T	6: 112,466,598 (GRCm39)		probably null	Het
Pgm2	A	T	5: 64,269,490 (GRCm39)	I526F	possibly damaging	Het
Plekho2	T	C	9: 65,464,105 (GRCm39)	D248G	possibly damaging	Het
Rab43	A	T	6: 87,769,752 (GRCm39)	Y151*	probably null	Het
Rbm19	A	G	5: 120,264,269 (GRCm39)	E343G	probably benign	Het
Rel	A	T	11: 23,692,439 (GRCm39)	D531E	probably benign	Het
Rfx4	T	A	10: 84,704,291 (GRCm39)	V262E	probably damaging	Het
Ryr3	A	G	2: 112,672,178 (GRCm39)	L1431P	probably damaging	Het
Sdk2	A	G	11: 113,729,271 (GRCm39)	I1102T	probably benign	Het
Sema3d	A	C	5: 12,513,183 (GRCm39)	D51A	possibly damaging	Het
Sh2d4a	T	A	8: 68,787,775 (GRCm39)	F294I	probably damaging	Het
Slc3a1	A	G	17: 85,367,171 (GRCm39)	T453A	probably benign	Het
Sod1	A	G	16: 90,022,071 (GRCm39)	D93G	probably benign	Het
Sptan1	A	G	2: 29,906,040 (GRCm39)	N1662S	probably damaging	Het
Stxbp4	A	C	11: 90,512,526 (GRCm39)	M1R	probably null	Het
Tbc1d7	A	T	13: 43,318,812 (GRCm39)	Y108*	probably null	Het
Ticam1	A	T	17: 56,577,226 (GRCm39)	V623D	unknown	Het
Ticam1	A	G	17: 56,578,687 (GRCm39)	L136P	probably damaging	Het
Tjap1	A	C	17: 46,569,455 (GRCm39)	W512G	possibly damaging	Het
Unc80	A	T	1: 66,549,800 (GRCm39)	Q686L	possibly damaging	Het
Wdr45b	A	T	11: 121,221,040 (GRCm39)	F213I	probably damaging	Het
Xdh	A	C	17: 74,230,077 (GRCm39)	W285G	probably benign	Het
Zfp646	C	T	7: 127,482,982 (GRCm39)	Q1500*	probably null	Het

Other mutations in Lsamp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01665:Lsamp	APN	16	41,964,375 (GRCm39)	nonsense	probably null
IGL02869:Lsamp	APN	16	41,965,078 (GRCm39)	missense	probably benign	0.00
R1147:Lsamp	UTSW	16	41,994,499 (GRCm39)	splice site	probably benign
R1170:Lsamp	UTSW	16	41,971,592 (GRCm39)	intron	probably benign
R1649:Lsamp	UTSW	16	41,775,661 (GRCm39)	missense	probably benign	0.00
R1656:Lsamp	UTSW	16	41,775,682 (GRCm39)	missense	probably damaging	1.00
R1976:Lsamp	UTSW	16	41,709,430 (GRCm39)	missense	probably damaging	0.99
R3613:Lsamp	UTSW	16	41,775,686 (GRCm39)	missense	probably benign	0.03
R3732:Lsamp	UTSW	16	41,964,935 (GRCm39)	missense	probably damaging	1.00
R3734:Lsamp	UTSW	16	41,965,133 (GRCm39)	missense	probably benign
R3838:Lsamp	UTSW	16	41,954,675 (GRCm39)	missense	possibly damaging	0.54
R3890:Lsamp	UTSW	16	39,805,054 (GRCm39)	missense	probably benign	0.01
R3891:Lsamp	UTSW	16	39,805,054 (GRCm39)	missense	probably benign	0.01
R4554:Lsamp	UTSW	16	41,964,438 (GRCm39)	missense	probably damaging	1.00
R4672:Lsamp	UTSW	16	41,775,697 (GRCm39)	missense	probably damaging	1.00
R5151:Lsamp	UTSW	16	41,954,792 (GRCm39)	missense	probably damaging	1.00
R5617:Lsamp	UTSW	16	41,954,786 (GRCm39)	missense	probably damaging	1.00
R6075:Lsamp	UTSW	16	41,954,788 (GRCm39)	missense	probably benign	0.19
R6217:Lsamp	UTSW	16	41,954,675 (GRCm39)	missense	possibly damaging	0.54
R6477:Lsamp	UTSW	16	41,988,528 (GRCm39)	intron	probably benign
R6637:Lsamp	UTSW	16	41,353,743 (GRCm39)	missense	possibly damaging	0.86
R8256:Lsamp	UTSW	16	41,965,007 (GRCm39)	missense	probably damaging	1.00
R8970:Lsamp	UTSW	16	41,994,528 (GRCm39)	missense	possibly damaging	0.95
R9606:Lsamp	UTSW	16	41,709,292 (GRCm39)	missense	probably benign	0.30
X0024:Lsamp	UTSW	16	41,964,921 (GRCm39)	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- GAGCCCTCTCAGAAATGTCACGAC -3'
(R):5'- AGAACTCTGCCCACTCTTGACTCG -3'

Sequencing Primer
(F):5'- GTCACGACAATGATTTATTATGCCTG -3'
(R):5'- TTGACTCGTCACAGCCG -3'

Posted On

2013-11-07