Mutagenetix > Incidental Mutation

Incidental Mutation 'R9318:Lamc1'

705939

Institutional Source

Beutler Lab

Gene Symbol

Lamc1

Ensembl Gene

ENSMUSG00000026478

Gene Name

laminin, gamma 1

Synonyms

laminin B2, Lamb2

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9318 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

153218922-153332786 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 153252000 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 386 (R386S)

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: R386S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027752
Gene: ENSMUSG00000026478
AA Change: R386S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (76/77)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	A	G	15: 94,403,440	S68P	possibly damaging	Het
Adcy6	A	T	15: 98,593,585	N1044K	possibly damaging	Het
Ak9	T	G	10: 41,423,085	M1594R	unknown	Het
Angpt1	A	G	15: 42,438,355	I419T	probably benign	Het
Ankrd31	A	T	13: 96,878,577	L1451F	probably benign	Het
Ap1b1	T	C	11: 5,040,157	I860T	probably benign	Het
Apc	G	A	18: 34,313,987	R1312Q	possibly damaging	Het
Cadps2	A	G	6: 23,496,888	Y453H	probably benign	Het
Carmil2	A	G	8: 105,687,854	T148A	probably benign	Het
Ccdc125	A	G	13: 100,696,412	Y499C	probably damaging	Het
Ccdc14	A	G	16: 34,704,918	M194V	possibly damaging	Het
Ccdc162	C	A	10: 41,630,114	M893I	probably benign	Het
Ccdc33	C	A	9: 58,086,593	W335L	possibly damaging	Het
Chn2	T	A	6: 54,295,855	Y355N	probably damaging	Het
Chst13	G	A	6: 90,309,524	P152L	probably damaging	Het
Clec4g	A	G	8: 3,716,500	M267T	probably damaging	Het
Clybl	G	A	14: 122,371,403	V136I	probably damaging	Het
Ctnnd1	G	T	2: 84,608,338	Q877K	probably benign	Het
Derl3	A	G	10: 75,894,014	K94R	probably null	Het
Dnah2	T	C	11: 69,484,329	E1356G	probably benign	Het
Dnah5	A	C	15: 28,203,908		probably benign	Het
Dusp19	T	A	2: 80,631,000	V211E	probably benign	Het
Entpd7	T	A	19: 43,704,270	V88E	possibly damaging	Het
Fam114a1	T	A	5: 64,995,884	S140T	possibly damaging	Het
Fbxw13	A	G	9: 109,179,314	F456L	probably benign	Het
Fpr-rs4	A	T	17: 18,021,955	M75L	probably benign	Het
Gm11639	T	C	11: 104,965,822		probably null	Het
Grb14	T	G	2: 65,022,641	T2P	probably damaging	Het
Hace1	T	A	10: 45,652,673	S337T	probably benign	Het
Heatr5b	C	T	17: 78,765,402	V1611I	probably benign	Het
Hist2h2be	T	C	3: 96,221,365	V67A	probably benign	Het
Ints6	A	T	14: 62,696,698	S787T	probably benign	Het
Itga9	A	G	9: 118,626,468	K70R	probably benign	Het
Kcnt2	T	C	1: 140,425,195	I214T	probably damaging	Het
Kdelr3	C	A	15: 79,527,074	L203I	probably benign	Het
Kpnb1	A	G	11: 97,163,458	M842T	probably benign	Het
Lctl	A	G	9: 64,119,257		probably benign	Het
Lrrn3	G	A	12: 41,453,244	P358L	probably damaging	Het
Mag	T	C	7: 30,900,368	H582R	possibly damaging	Het
Megf9	A	T	4: 70,435,454	C372S	probably damaging	Het
Mfsd11	T	C	11: 116,859,572	F139S	probably damaging	Het
Mpst	G	T	15: 78,410,442	V125L	probably damaging	Het
Myo15b	T	C	11: 115,885,139	V587A	probably benign	Het
Myod1	A	T	7: 46,376,932	H87L	probably damaging	Het
Oacyl	G	T	18: 65,725,344	V247L	probably benign	Het
Olfr1116	A	C	2: 87,268,927	T49P	possibly damaging	Het
Olfr136	A	T	17: 38,335,429	T91S	possibly damaging	Het
Olfr177	A	G	16: 58,872,385	L255P	probably damaging	Het
Olfr181	A	T	16: 58,925,908	I221N	probably damaging	Het
Olfr350	G	A	2: 36,850,553	C169Y	probably benign	Het
Olfr598	T	A	7: 103,329,376	Y297N	probably damaging	Het
Olfr676	T	C	7: 105,035,623	Y142H	probably damaging	Het
Olfr804	A	G	10: 129,705,414	T179A	probably benign	Het
Olfr917	A	G	9: 38,665,284	S187P	possibly damaging	Het
Olfr983	A	C	9: 40,092,816	I50S	possibly damaging	Het
Pde3a	T	C	6: 141,479,476	F666S	probably benign	Het
Phf20	G	A	2: 156,273,770	R337H	probably benign	Het
Plcg2	G	A	8: 117,596,368	E721K	probably benign	Het
Prkg1	T	A	19: 30,571,638	T646S	probably benign	Het
Prr27	C	A	5: 87,843,135	P202Q	probably benign	Het
Prss16	C	A	13: 22,006,938	A206S	possibly damaging	Het
Prss37	A	T	6: 40,514,975	Y224N	probably damaging	Het
Ptprt	A	G	2: 161,575,778	L926S	probably benign	Het
Rgl1	G	A	1: 152,524,703	T649I	possibly damaging	Het
Rgs3	C	A	4: 62,640,782	D504E	probably benign	Het
Rp1	C	T	1: 4,348,265	A875T	probably benign	Het
Rpl9-ps1	T	A	11: 83,645,351	K91*	probably null	Het
Slc44a2	A	G	9: 21,341,972	Y65C	probably damaging	Het
Snw1	T	C	12: 87,458,904	K255E	probably damaging	Het
Sox6	T	C	7: 115,662,322	I220V	probably benign	Het
Synpo2	A	T	3: 123,080,056	I1146N	probably damaging	Het
Tas2r115	T	C	6: 132,737,509	R160G	probably benign	Het
Tchh	T	C	3: 93,446,744	F1164L	unknown	Het
Tmem110	T	A	14: 30,866,682	V122E	probably damaging	Het
Trim58	T	C	11: 58,651,267	V351A	probably damaging	Het
Ttf1	T	C	2: 29,074,654	S663P	possibly damaging	Het
Wdr59	A	G	8: 111,451,068	Y920H		Het
Zfp418	A	G	7: 7,182,436	Y466C	probably damaging	Het
Zfp827	A	T	8: 79,118,353	R717S	possibly damaging	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
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
R9377:Lamc1	UTSW	1	153239263	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTTAGAACAGCATACATCACGC -3'
(R):5'- TTCTATGCCATCTGTCATAGAGATG -3'

Sequencing Primer
(F):5'- GCCACACTTAACTCTGCACATG -3'
(R):5'- TTTCCCAATAAAGCACCCATGTTGG -3'

Posted On

2022-03-25