Mutagenetix > Incidental Mutation

Incidental Mutation 'R5151:Lsamp'

395402

Institutional Source

Beutler Lab

Gene Symbol

Lsamp

Ensembl Gene

ENSMUSG00000061080

Gene Name

limbic system-associated membrane protein

Synonyms

B130007O04Rik, D930023J12Rik, Lam, Lamp

MMRRC Submission

042733-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

R5151 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39804723-42002042 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41954792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 230 (V230A)

Ref Sequence

ENSEMBL: ENSMUSP00000139667 (fasta)

Gene Model

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

AlphaFold

Q8BLK3

Predicted Effect

probably damaging
Transcript: ENSMUST00000078873
AA Change: V213A

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

SMART Domains

Protein: ENSMUSP00000077913
Gene: ENSMUSG00000061080
AA Change: V213A

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 damaging
Transcript: ENSMUST00000099761
AA Change: V213A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097349
Gene: ENSMUSG00000061080
AA Change: V213A

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 damaging
Transcript: ENSMUST00000187695
AA Change: V230A

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

SMART Domains

Protein: ENSMUSP00000139667
Gene: ENSMUSG00000061080
AA Change: V230A

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: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.6%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1b	T	A	15: 101,108,651 (GRCm39)	C476S	probably damaging	Het
Agpat2	A	G	2: 26,487,218 (GRCm39)	M120T	probably damaging	Het
Ahnak	A	G	19: 8,994,933 (GRCm39)	T5406A	probably benign	Het
Ano4	A	G	10: 88,948,775 (GRCm39)	F112L	probably damaging	Het
Arhgef11	T	A	3: 87,642,667 (GRCm39)	V1371D	probably damaging	Het
Ascc3	A	G	10: 50,514,059 (GRCm39)	N286S	probably damaging	Het
Ate1	T	C	7: 130,109,394 (GRCm39)	K202E	possibly damaging	Het
Cacna1d	T	C	14: 29,845,280 (GRCm39)	T630A	probably damaging	Het
Ccdc187	G	T	2: 26,183,451 (GRCm39)	T183N	probably damaging	Het
Cdk12	C	T	11: 98,140,749 (GRCm39)		probably benign	Het
Ciita	A	G	16: 10,341,594 (GRCm39)	N978S	probably damaging	Het
Cit	A	T	5: 116,117,894 (GRCm39)	Q1268L	probably damaging	Het
Csf2rb	C	T	15: 78,224,781 (GRCm39)	R180W	probably damaging	Het
Dnah17	T	C	11: 117,918,293 (GRCm39)	I4079V	probably damaging	Het
Dnah7a	A	G	1: 53,659,929 (GRCm39)	V693A	probably benign	Het
Dnah8	T	A	17: 30,931,269 (GRCm39)	V1428E	probably benign	Het
Dnhd1	C	A	7: 105,362,647 (GRCm39)	Q3777K	probably benign	Het
Dock9	A	G	14: 121,815,582 (GRCm39)	Y1666H	probably damaging	Het
Dpysl3	C	T	18: 43,571,145 (GRCm39)	G43D	probably benign	Het
Eftud2	A	G	11: 102,758,670 (GRCm39)		probably null	Het
Erich4	T	C	7: 25,315,292 (GRCm39)		probably benign	Het
Fah	T	A	7: 84,250,259 (GRCm39)	D99V	possibly damaging	Het
Fat1	T	C	8: 45,404,851 (GRCm39)	V534A	possibly damaging	Het
Fgf21	G	C	7: 45,263,456 (GRCm39)	S207R	probably damaging	Het
Fras1	C	T	5: 96,792,969 (GRCm39)	P967S	probably damaging	Het
H2-T23	T	C	17: 36,343,230 (GRCm39)	D49G	probably damaging	Het
Hmcn2	A	G	2: 31,279,455 (GRCm39)	N1819S	probably null	Het
Hoxc12	A	G	15: 102,846,881 (GRCm39)	I258V	probably damaging	Het
Ighv1-22	T	A	12: 114,709,928 (GRCm39)	T106S	probably damaging	Het
Inpp5j	T	C	11: 3,452,270 (GRCm39)	T327A	probably damaging	Het
Iqgap3	G	T	3: 88,025,067 (GRCm39)	M689I	possibly damaging	Het
Itga7	G	A	10: 128,780,380 (GRCm39)	G559S	possibly damaging	Het
Kcnq1	G	T	7: 142,979,749 (GRCm39)	V632L	probably benign	Het
Mfn2	A	T	4: 147,970,785 (GRCm39)	S305T	probably benign	Het
Myom3	A	G	4: 135,516,883 (GRCm39)	T818A	probably benign	Het
Nacc2	G	A	2: 25,980,365 (GRCm39)	R24C	probably damaging	Het
Ntrk3	A	C	7: 77,897,048 (GRCm39)	I663R	probably damaging	Het
Nyap1	A	G	5: 137,734,376 (GRCm39)	V219A	probably damaging	Het
Obox3	A	T	7: 15,360,173 (GRCm39)	N165K	probably damaging	Het
Or13a1	T	A	6: 116,470,765 (GRCm39)	L65*	probably null	Het
Or13j1	A	T	4: 43,706,518 (GRCm39)	F17I	probably damaging	Het
Or2y12	A	G	11: 49,426,242 (GRCm39)	T77A	possibly damaging	Het
Or52e2	C	A	7: 102,804,593 (GRCm39)	M120I	probably damaging	Het
Or55b4	G	A	7: 102,134,192 (GRCm39)	T45I	probably benign	Het
Pask	A	T	1: 93,262,350 (GRCm39)	L170H	probably damaging	Het
Piezo2	A	T	18: 63,163,480 (GRCm39)	I2146N	possibly damaging	Het
Pitpnm2	A	T	5: 124,274,449 (GRCm39)	M220K	probably damaging	Het
Pkhd1l1	A	G	15: 44,368,705 (GRCm39)	D841G	probably benign	Het
Pla2g3	C	T	11: 3,440,827 (GRCm39)	T264M	probably benign	Het
Plcb1	A	T	2: 135,104,165 (GRCm39)	Y278F	probably benign	Het
Prkdc	T	C	16: 15,533,899 (GRCm39)	L1579P	probably damaging	Het
Rad51ap2	T	A	12: 11,507,516 (GRCm39)	N479K	probably benign	Het
Rasgrf2	T	C	13: 92,044,155 (GRCm39)	H966R	probably damaging	Het
Rbm27	A	G	18: 42,471,509 (GRCm39)	D996G	probably damaging	Het
Rif1	A	C	2: 52,010,321 (GRCm39)	K2337T	probably damaging	Het
Rpl13a	G	T	7: 44,775,385 (GRCm39)	N442K	probably benign	Het
Serpini2	T	A	3: 75,153,820 (GRCm39)	T380S	possibly damaging	Het
Setbp1	A	T	18: 78,901,214 (GRCm39)	W818R	probably damaging	Het
Siae	T	A	9: 37,542,869 (GRCm39)	C185S	probably benign	Het
Slc15a2	A	G	16: 36,572,659 (GRCm39)	V674A	probably damaging	Het
Slc40a1	A	T	1: 45,950,516 (GRCm39)	M312K	possibly damaging	Het
Slc46a3	A	G	5: 147,823,566 (GRCm39)	L92S	probably damaging	Het
Son	T	C	16: 91,452,587 (GRCm39)	S445P	probably damaging	Het
Syne2	T	C	12: 76,090,484 (GRCm39)	F351L	probably benign	Het
Tmed3	G	A	9: 89,581,825 (GRCm39)	R213*	probably null	Het
Tmem248	T	A	5: 130,269,238 (GRCm39)	L277H	probably damaging	Het
Unc13c	T	A	9: 73,838,757 (GRCm39)	H698L	probably benign	Het
Ushbp1	A	G	8: 71,847,799 (GRCm39)	V24A	possibly damaging	Het
Usp24	G	T	4: 106,256,309 (GRCm39)		probably null	Het
Vmn2r50	T	G	7: 9,786,970 (GRCm39)	I46L	probably benign	Het
Zfp106	T	C	2: 120,365,208 (GRCm39)	T423A	probably benign	Het
Zfp663	T	A	2: 165,195,113 (GRCm39)	T369S	probably benign	Het
Zmynd11	T	C	13: 9,740,953 (GRCm39)	T382A	probably damaging	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
R0930:Lsamp	UTSW	16	41,709,327 (GRCm39)	missense	probably benign	0.25
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
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'- AAAGGGCCAAGTCAGCATTG -3'
(R):5'- ATTCAAAGGCCAAGTCTCGC -3'

Sequencing Primer
(F):5'- GCCAAGTCAGCATTGTTTCTAGAG -3'
(R):5'- AAGTCTCGCCCTTGGAAGTGTC -3'

Posted On

2016-06-21