Mutagenetix > Incidental Mutation

Incidental Mutation 'R0003:Lamc1'

32283

Institutional Source

Beutler Lab

Gene Symbol

Lamc1

Ensembl Gene

ENSMUSG00000026478

Gene Name

laminin, gamma 1

Synonyms

laminin B2, Lamb2

MMRRC Submission

038299-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0003 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

153218922-153332786 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 153262439 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 223 (L223R)

Ref Sequence

ENSEMBL: ENSMUSP00000027752 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027752]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000027752
AA Change: L223R

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027752
Gene: ENSMUSG00000026478
AA Change: L223R

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
LamNT	42	282	1.97e-150	SMART
EGF_Lam	284	337	7.18e-7	SMART
EGF_Lam	340	393	7.93e-9	SMART
EGF_Lam	396	440	2.11e-13	SMART
EGF_Lam	443	490	2.87e-15	SMART
LamB	551	676	5.52e-48	SMART
Pfam:Laminin_EGF	683	718	1.3e-4	PFAM
EGF_Lam	722	768	2.38e-12	SMART
EGF_Lam	771	823	1.39e-4	SMART
EGF_Lam	826	879	8.05e-10	SMART
EGF_Lam	882	930	8.9e-12	SMART
EGF_Lam	933	978	1.26e-11	SMART
EGF_Lam	981	1026	7.4e-9	SMART
coiled coil region	1063	1594	N/A	INTRINSIC

Meta Mutation Damage Score

0.8727

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.7%

Validation Efficiency

94% (82/87)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]
PHENOTYPE: Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,286,578	V1903E	possibly damaging	Het
Adam19	T	A	11: 46,128,789	C439S	probably damaging	Het
Adnp2	T	C	18: 80,130,990	Y68C	probably damaging	Het
Ahctf1	A	T	1: 179,763,473	D1247E	probably benign	Het
Alms1	T	A	6: 85,629,210	M2614K	possibly damaging	Het
Alx3	A	G	3: 107,604,976	H310R	probably damaging	Het
Ambra1	C	T	2: 91,911,428	T1016M	probably damaging	Het
Ankrd35	A	G	3: 96,684,015	E539G	probably damaging	Het
Aptx	A	G	4: 40,695,145		probably benign	Het
Arsi	C	T	18: 60,916,986	R314C	probably benign	Het
Atp1a3	T	C	7: 24,989,564		probably benign	Het
Avl9	G	T	6: 56,736,483	R242L	probably benign	Het
BC067074	T	A	13: 113,368,776	S2146R	probably benign	Het
Bicra	G	T	7: 15,971,887	T1543K	probably benign	Het
Bzw2	A	C	12: 36,130,015	I71S	probably damaging	Het
Camk2a	C	T	18: 60,960,007	A302V	probably damaging	Het
Ccdc12	A	G	9: 110,656,597	E12G	possibly damaging	Het
Cd300lb	A	T	11: 114,928,338	F19Y	probably benign	Het
Clcn3	A	T	8: 60,927,296	C535*	probably null	Het
Cntnap5c	A	G	17: 58,199,017	T679A	probably benign	Het
Cpsf7	G	A	19: 10,539,629	S365N	possibly damaging	Het
Cyp20a1	T	C	1: 60,387,126		probably benign	Het
Decr2	A	T	17: 26,083,053	N234K	probably benign	Het
Def8	G	A	8: 123,456,495	A278T	probably damaging	Het
Dnah12	T	C	14: 26,772,644	F1300L	probably damaging	Het
Dock1	T	C	7: 134,730,064		probably benign	Het
Dpy19l4	A	T	4: 11,267,619	N440K	probably damaging	Het
Eprs	T	C	1: 185,414,391	V1206A	probably damaging	Het
Exoc6b	A	G	6: 84,854,699		probably null	Het
Fam184b	A	G	5: 45,555,194		probably benign	Het
Fcho1	A	T	8: 71,708,953	S858T	probably damaging	Het
Fgfr1	A	G	8: 25,568,198	D430G	possibly damaging	Het
Fmnl3	T	C	15: 99,321,132	T807A	probably damaging	Het
Gabra5	T	C	7: 57,413,728	Y316C	probably damaging	Het
Gh	A	G	11: 106,301,520	L16P	probably damaging	Het
Glipr2	A	T	4: 43,970,532	I87F	probably damaging	Het
Glrb	T	A	3: 80,855,914	I259F	probably damaging	Het
Gpr63	T	C	4: 25,007,651	L125P	probably damaging	Het
Grb2	A	G	11: 115,655,425	Y37H	probably damaging	Het
Haus2	G	A	2: 120,618,968		probably benign	Het
Hmgcr	T	C	13: 96,652,145	N749S	probably damaging	Het
Igf1r	T	C	7: 68,165,242	V297A	probably damaging	Het
Il12rb2	G	T	6: 67,316,286	P69H	probably damaging	Het
Ints3	C	A	3: 90,408,511	M315I	probably benign	Het
Izumo2	C	T	7: 44,715,409	T116I	probably benign	Het
Kctd19	A	C	8: 105,395,361	Y185D	probably damaging	Het
Lama4	A	G	10: 39,060,222	N631S	possibly damaging	Het
Lama5	T	G	2: 180,178,079		probably null	Het
Lgr4	G	A	2: 109,997,665		probably null	Het
Loxhd1	T	C	18: 77,339,500	L398P	probably damaging	Het
Mapk9	T	A	11: 49,867,039	D103E	possibly damaging	Het
March6	T	C	15: 31,469,532		probably benign	Het
Mlxipl	G	A	5: 135,133,189		probably benign	Het
Mrgbp	C	A	2: 180,583,438	D62E	probably benign	Het
Mtap	A	T	4: 89,151,998		probably benign	Het
Myt1	G	A	2: 181,801,871	G497S	probably damaging	Het
Naa25	T	G	5: 121,407,184		probably benign	Het
Nfat5	C	T	8: 107,339,075	R156W	probably damaging	Het
Nkpd1	T	C	7: 19,519,927	C73R	probably benign	Het
Nup210l	T	C	3: 90,119,911	I200T	probably damaging	Het
Nvl	C	A	1: 181,114,133	D581Y	probably damaging	Het
Olfr1102	T	A	2: 87,002,366	Y132*	probably null	Het
Olfr1500	T	C	19: 13,827,686	T237A	probably damaging	Het
Olfr568	T	C	7: 102,877,861	V247A	probably benign	Het
Olfr575	T	C	7: 102,954,978	M208V	probably benign	Het
Olfr905	A	G	9: 38,473,316	T190A	probably benign	Het
Pcdh7	G	T	5: 57,913,248	E1089D	probably benign	Het
Pik3cd	A	G	4: 149,656,379		probably null	Het
Plekhh2	A	T	17: 84,557,392	K69N	probably damaging	Het
Ptgdr2	G	A	19: 10,940,428	C103Y	probably damaging	Het
Rrad	A	C	8: 104,628,667	H236Q	probably benign	Het
Rslcan18	C	T	13: 67,098,469	A236T	probably benign	Het
Ryr2	C	A	13: 11,824,379	D503Y	probably damaging	Het
Siglec1	T	C	2: 131,075,060	T1092A	probably benign	Het
Siglecf	A	G	7: 43,355,926	T437A	probably benign	Het
Spta1	A	T	1: 174,205,273	Q965H	probably damaging	Het
Stk10	A	T	11: 32,589,460	E280V	probably benign	Het
Tfg	T	C	16: 56,690,988	Y326C	possibly damaging	Het
Tpp2	T	A	1: 43,960,139	S358T	possibly damaging	Het
Trim25	G	T	11: 89,015,772	V437L	probably benign	Het
Ttn	T	C	2: 76,743,683	D25622G	probably damaging	Het
Ube3b	T	A	5: 114,398,851	S303R	probably benign	Het
Ush2a	T	A	1: 188,578,491	V2088D	probably damaging	Het
Vmn2r103	A	G	17: 19,811,979	T672A	probably damaging	Het
Wdr11	G	T	7: 129,599,061	G79C	probably damaging	Het
Wdr89	T	A	12: 75,632,593	T296S	probably benign	Het
Zdhhc24	T	A	19: 4,880,374	L179M	possibly damaging	Het
Zfp981	T	C	4: 146,537,760	C381R	probably damaging	Het
Zim1	A	G	7: 6,676,948	I572T	probably benign	Het

Other mutations in Lamc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00950:Lamc1	APN	1	153240495	missense	probably damaging	1.00
IGL01397:Lamc1	APN	1	153251134	missense	probably damaging	1.00
IGL01661:Lamc1	APN	1	153221573	missense	possibly damaging	0.89
IGL01894:Lamc1	APN	1	153247082	missense	possibly damaging	0.51
IGL02000:Lamc1	APN	1	153240433	missense	probably damaging	1.00
IGL02649:Lamc1	APN	1	153247042	missense	possibly damaging	0.78
IGL02749:Lamc1	APN	1	153249853	missense	possibly damaging	0.51
IGL02819:Lamc1	APN	1	153250661	missense	probably damaging	1.00
IGL02831:Lamc1	APN	1	153247055	missense	probably benign	0.00
IGL03069:Lamc1	APN	1	153239381	missense	probably damaging	1.00
IGL03143:Lamc1	APN	1	153332274	missense	probably benign	0.00
IGL03166:Lamc1	APN	1	153332301	missense	probably benign	0.01
IGL03285:Lamc1	APN	1	153227685	missense	possibly damaging	0.96
IGL03294:Lamc1	APN	1	153262646	missense	probably damaging	1.00
pride	UTSW	1	153247284	missense	probably benign	0.01
Stratum	UTSW	1	153251124	nonsense	probably null
tier	UTSW	1	153250522	missense	probably damaging	1.00
PIT4280001:Lamc1	UTSW	1	153243471	missense	probably damaging	1.00
R0003:Lamc1	UTSW	1	153262439	missense	probably damaging	0.99
R0027:Lamc1	UTSW	1	153262583	missense	probably damaging	1.00
R0060:Lamc1	UTSW	1	153241868	unclassified	probably benign
R0078:Lamc1	UTSW	1	153229190	missense	probably damaging	0.96
R0157:Lamc1	UTSW	1	153262607	missense	probably benign	0.00
R0282:Lamc1	UTSW	1	153255312	missense	probably benign
R0374:Lamc1	UTSW	1	153251065	splice site	probably benign
R0494:Lamc1	UTSW	1	153246936	critical splice donor site	probably null
R0502:Lamc1	UTSW	1	153246932	splice site	probably benign
R0755:Lamc1	UTSW	1	153247450	missense	possibly damaging	0.94
R0791:Lamc1	UTSW	1	153234580	missense	possibly damaging	0.94
R0791:Lamc1	UTSW	1	153234595	missense	probably damaging	1.00
R0791:Lamc1	UTSW	1	153234612	missense	probably benign	0.01
R0792:Lamc1	UTSW	1	153234580	missense	possibly damaging	0.94
R0792:Lamc1	UTSW	1	153234595	missense	probably damaging	1.00
R0792:Lamc1	UTSW	1	153234612	missense	probably benign	0.01
R0892:Lamc1	UTSW	1	153332254	missense	possibly damaging	0.95
R0941:Lamc1	UTSW	1	153332274	missense	possibly damaging	0.72
R0961:Lamc1	UTSW	1	153221646	frame shift	probably null
R0961:Lamc1	UTSW	1	153221700	missense	probably benign	0.03
R0963:Lamc1	UTSW	1	153243386	missense	probably benign
R1127:Lamc1	UTSW	1	153250459	missense	possibly damaging	0.69
R1173:Lamc1	UTSW	1	153247231	splice site	probably benign
R1175:Lamc1	UTSW	1	153247231	splice site	probably benign
R1449:Lamc1	UTSW	1	153250495	missense	probably benign
R1481:Lamc1	UTSW	1	153221634	missense	probably damaging	1.00
R1565:Lamc1	UTSW	1	153242743	missense	probably benign	0.34
R1583:Lamc1	UTSW	1	153243478	critical splice acceptor site	probably null
R1643:Lamc1	UTSW	1	153258072	splice site	probably benign
R1652:Lamc1	UTSW	1	153249646	missense	probably damaging	1.00
R1691:Lamc1	UTSW	1	153247249	missense	probably benign	0.04
R1854:Lamc1	UTSW	1	153249872	missense	probably damaging	0.99
R2018:Lamc1	UTSW	1	153242632	missense	probably benign	0.07
R2170:Lamc1	UTSW	1	153249142	missense	probably benign	0.07
R2410:Lamc1	UTSW	1	153247395	missense	possibly damaging	0.61
R3438:Lamc1	UTSW	1	153226415	missense	probably benign	0.04
R3615:Lamc1	UTSW	1	153251150	missense	probably damaging	1.00
R3616:Lamc1	UTSW	1	153251150	missense	probably damaging	1.00
R3699:Lamc1	UTSW	1	153255205	missense	possibly damaging	0.79
R3811:Lamc1	UTSW	1	153262708	splice site	probably null
R4285:Lamc1	UTSW	1	153234552	missense	probably damaging	0.99
R4431:Lamc1	UTSW	1	153221528	missense	probably damaging	1.00
R4579:Lamc1	UTSW	1	153247269	missense	probably damaging	1.00
R4625:Lamc1	UTSW	1	153242696	missense	probably benign	0.04
R4649:Lamc1	UTSW	1	153228777	missense	probably damaging	0.99
R4650:Lamc1	UTSW	1	153228777	missense	probably damaging	0.99
R4651:Lamc1	UTSW	1	153228777	missense	probably damaging	0.99
R4652:Lamc1	UTSW	1	153228777	missense	probably damaging	0.99
R4653:Lamc1	UTSW	1	153228777	missense	probably damaging	0.99
R4784:Lamc1	UTSW	1	153231740	missense	probably damaging	1.00
R4785:Lamc1	UTSW	1	153231740	missense	probably damaging	1.00
R4853:Lamc1	UTSW	1	153229100	missense	possibly damaging	0.89
R5216:Lamc1	UTSW	1	153227696	missense	probably damaging	1.00
R5217:Lamc1	UTSW	1	153227696	missense	probably damaging	1.00
R5218:Lamc1	UTSW	1	153227696	missense	probably damaging	1.00
R5219:Lamc1	UTSW	1	153227696	missense	probably damaging	1.00
R5468:Lamc1	UTSW	1	153233564	missense	probably damaging	0.99
R5597:Lamc1	UTSW	1	153251970	missense	probably damaging	1.00
R5754:Lamc1	UTSW	1	153247284	missense	probably benign	0.01
R6233:Lamc1	UTSW	1	153223666	missense	probably benign
R6431:Lamc1	UTSW	1	153221671	missense	probably benign	0.21
R6636:Lamc1	UTSW	1	153241975	missense	possibly damaging	0.93
R6888:Lamc1	UTSW	1	153262492	missense	probably damaging	1.00
R7161:Lamc1	UTSW	1	153226454	missense	probably damaging	1.00
R7240:Lamc1	UTSW	1	153234650	missense	possibly damaging	0.82
R7388:Lamc1	UTSW	1	153249076	missense	probably damaging	1.00
R7474:Lamc1	UTSW	1	153332265	missense	possibly damaging	0.81
R7570:Lamc1	UTSW	1	153243275	missense	possibly damaging	0.64
R7583:Lamc1	UTSW	1	153243232	missense	possibly damaging	0.71
R7597:Lamc1	UTSW	1	153240454	missense	possibly damaging	0.94
R7635:Lamc1	UTSW	1	153249060	missense	probably damaging	1.00
R7976:Lamc1	UTSW	1	153247268	missense	probably damaging	1.00
R8012:Lamc1	UTSW	1	153221612	missense	probably benign	0.04
R8207:Lamc1	UTSW	1	153250522	missense	probably damaging	1.00
R8219:Lamc1	UTSW	1	153247327	missense	probably damaging	1.00
R8227:Lamc1	UTSW	1	153223754	missense	probably benign	0.04
R8315:Lamc1	UTSW	1	153243421	missense	probably benign	0.00
R8417:Lamc1	UTSW	1	153230769	missense	probably damaging	1.00
R8685:Lamc1	UTSW	1	153233542	missense	probably benign	0.31
R8827:Lamc1	UTSW	1	153221678	missense	probably damaging	1.00
R8995:Lamc1	UTSW	1	153332247	missense	probably benign	0.00
R9061:Lamc1	UTSW	1	153251124	nonsense	probably null
R9141:Lamc1	UTSW	1	153247450	missense	probably benign	0.01
R9187:Lamc1	UTSW	1	153221688	nonsense	probably null
R9206:Lamc1	UTSW	1	153250451	missense	probably damaging	1.00
R9222:Lamc1	UTSW	1	153243341	missense	probably damaging	0.96
R9297:Lamc1	UTSW	1	153252000	missense	probably damaging	1.00
R9318:Lamc1	UTSW	1	153252000	missense	probably damaging	1.00
R9377:Lamc1	UTSW	1	153239263	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGAACACATGTTCCCAAGGCAGAG -3'
(R):5'- AGCTTCGCCATCTATAAGCGCAC -3'

Sequencing Primer
(F):5'- TTCCCAAGGCAGAGGGAAG -3'
(R):5'- TCTATAAGCGCACTCGGGAAG -3'

Posted On

2013-05-09