Mutagenetix > Incidental Mutation

Incidental Mutation 'R4960:Lamc3'

382228

Institutional Source

Beutler Lab

Gene Symbol

Lamc3

Ensembl Gene

ENSMUSG00000026840

Gene Name

laminin gamma 3

Synonyms

MMRRC Submission

042557-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4960 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31777303-31836551 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31805966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 689 (Q689R)

Ref Sequence

ENSEMBL: ENSMUSP00000118745 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028187] [ENSMUST00000138325]

AlphaFold

Q9R0B6

Predicted Effect

probably benign
Transcript: ENSMUST00000028187
AA Change: Q689R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000028187
Gene: ENSMUSG00000026840
AA Change: Q689R

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
LamNT	38	278	4.32e-115	SMART
EGF_Lam	280	333	4.19e-8	SMART
EGF_Lam	336	389	4.81e-8	SMART
EGF_Lam	392	436	2.52e-11	SMART
EGF_Lam	439	486	1.16e-10	SMART
low complexity region	538	549	N/A	INTRINSIC
low complexity region	591	603	N/A	INTRINSIC
EGF_like	649	716	3.69e0	SMART
EGF_Lam	719	764	3.1e-11	SMART
EGF_Lam	767	819	3.43e-4	SMART
EGF_Lam	822	875	2.16e-10	SMART
EGF_Lam	878	925	6.29e-12	SMART
EGF_Lam	928	973	1.62e-14	SMART
EGF_Lam	976	1021	1.02e-6	SMART
low complexity region	1032	1046	N/A	INTRINSIC
coiled coil region	1119	1150	N/A	INTRINSIC
low complexity region	1234	1247	N/A	INTRINSIC
low complexity region	1397	1407	N/A	INTRINSIC
coiled coil region	1444	1467	N/A	INTRINSIC
coiled coil region	1528	1575	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138325
AA Change: Q689R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000118745
Gene: ENSMUSG00000026840
AA Change: Q689R

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
LamNT	38	278	4.32e-115	SMART
EGF_Lam	280	333	4.19e-8	SMART
EGF_Lam	336	389	4.81e-8	SMART
EGF_Lam	392	436	2.52e-11	SMART
EGF_Lam	439	486	1.16e-10	SMART
low complexity region	538	549	N/A	INTRINSIC
low complexity region	591	603	N/A	INTRINSIC
EGF_like	649	716	3.69e0	SMART
EGF_Lam	719	764	3.1e-11	SMART
EGF_Lam	767	819	3.43e-4	SMART
EGF_Lam	822	875	2.16e-10	SMART
EGF_Lam	878	925	6.29e-12	SMART
EGF_Lam	928	973	1.62e-14	SMART
EGF_Lam	976	1021	1.02e-6	SMART
low complexity region	1032	1046	N/A	INTRINSIC
coiled coil region	1119	1150	N/A	INTRINSIC
low complexity region	1245	1258	N/A	INTRINSIC
low complexity region	1408	1418	N/A	INTRINSIC
coiled coil region	1455	1478	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

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 are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form 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 3. The gamma 3 chain is most similar to the gamma 1 chain, and contains all the 6 domains expected of the gamma chain. It is a component of laminin 12. The gamma 3 chain is broadly expressed in skin, heart, lung, and the reproductive tracts. In skin, it is seen within the basement membrane of the dermal-epidermal junction at points of nerve penetration. Gamma 3 is also a prominent element of the apical surface of ciliated epithelial cells of lung, oviduct, epididymis, ductus deferens, and seminiferous tubules. The distribution of gamma 3-containing laminins along ciliated epithelial surfaces suggests that the apical laminins are important in the morphogenesis and structural stability of the ciliated processes of these cells. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a reporter allele exhibit abnormal amacrine cell morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	T	6: 142,566,509 (GRCm39)		probably null	Het
Abtb3	A	C	10: 85,487,526 (GRCm39)	N998T	probably benign	Het
Adamts20	T	C	15: 94,277,655 (GRCm39)	H269R	probably benign	Het
Adamtsl1	C	T	4: 86,342,410 (GRCm39)	Q1642*	probably null	Het
Adamtsl3	A	C	7: 82,216,185 (GRCm39)	T863P	probably damaging	Het
Adcy3	G	T	12: 4,184,896 (GRCm39)	V191L	probably benign	Het
Akap9	G	T	5: 4,007,664 (GRCm39)	R244L	probably benign	Het
Anapc1	C	T	2: 128,526,514 (GRCm39)	V95M	probably benign	Het
Arhgap17	G	T	7: 122,886,149 (GRCm39)		probably benign	Het
Art2b	T	A	7: 101,229,437 (GRCm39)	Y154F	probably damaging	Het
Atrn	C	T	2: 130,836,967 (GRCm39)	R1144*	probably null	Het
Atxn3	T	C	12: 101,914,638 (GRCm39)	S29G	possibly damaging	Het
Batf3	C	T	1: 190,830,707 (GRCm39)	P18S	probably benign	Het
Bmal1	T	A	7: 112,898,642 (GRCm39)		probably null	Het
Bmpr1b	A	T	3: 141,576,546 (GRCm39)	C96S	probably damaging	Het
Bola1	A	G	3: 96,104,370 (GRCm39)	S75P	probably benign	Het
Cela3a	G	A	4: 137,129,959 (GRCm39)	R221*	probably null	Het
Chat	A	G	14: 32,142,771 (GRCm39)	V406A	possibly damaging	Het
Chd1	T	A	17: 15,962,493 (GRCm39)	M750K	probably damaging	Het
Clip1	T	A	5: 123,792,066 (GRCm39)	K35*	probably null	Het
Cnr2	G	A	4: 135,644,918 (GRCm39)	G332D	probably benign	Het
Cnrip1	A	G	11: 17,002,228 (GRCm39)	D20G	probably damaging	Het
Col2a1	T	C	15: 97,874,030 (GRCm39)	Y1384C	unknown	Het
Col6a3	T	A	1: 90,731,940 (GRCm39)	I831F	probably damaging	Het
Cp	G	A	3: 20,027,961 (GRCm39)	V456I	probably damaging	Het
Cspp1	T	A	1: 10,196,688 (GRCm39)	N900K	probably damaging	Het
Ctbp2	T	C	7: 132,615,967 (GRCm39)	I323V	probably benign	Het
Ctnna2	C	T	6: 77,630,094 (GRCm39)	R120H	probably damaging	Het
Cyp2a12	A	G	7: 26,733,575 (GRCm39)	H318R	probably benign	Het
Cyp2c66	A	T	19: 39,151,766 (GRCm39)		probably null	Het
Cyp2j8	T	C	4: 96,395,614 (GRCm39)	T4A	probably benign	Het
Cyp4v3	A	G	8: 45,773,674 (GRCm39)	V165A	possibly damaging	Het
D5Ertd579e	G	A	5: 36,773,571 (GRCm39)	R275*	probably null	Het
Deup1	G	T	9: 15,512,264 (GRCm39)	Q160K	possibly damaging	Het
Dhx36	A	T	3: 62,404,280 (GRCm39)	I221K	probably damaging	Het
Dnah7b	T	A	1: 46,272,886 (GRCm39)	M2338K	probably benign	Het
Dync2li1	T	G	17: 84,940,969 (GRCm39)	L62V	probably benign	Het
Ephb3	A	G	16: 21,039,245 (GRCm39)	K367R	probably benign	Het
Etv3	A	G	3: 87,435,368 (GRCm39)	K80E	probably damaging	Het
Flacc1	T	A	1: 58,706,965 (GRCm39)	E234V	probably damaging	Het
Gdap1l1	T	C	2: 163,295,779 (GRCm39)	F346L	probably benign	Het
Gm4787	C	T	12: 81,426,090 (GRCm39)	V23M	probably damaging	Het
Greb1l	T	A	18: 10,547,306 (GRCm39)	I1508N	probably damaging	Het
Heatr5b	G	A	17: 79,139,013 (GRCm39)	T43I	probably benign	Het
Hephl1	T	C	9: 14,997,586 (GRCm39)	Y360C	probably damaging	Het
Itgam	A	C	7: 127,715,012 (GRCm39)	T865P	possibly damaging	Het
Kcnma1	T	C	14: 24,054,186 (GRCm39)		probably benign	Het
Kidins220	T	A	12: 25,042,259 (GRCm39)	C185*	probably null	Het
Klhl35	G	T	7: 99,118,275 (GRCm39)	G273V	probably damaging	Het
Lama5	A	G	2: 179,850,045 (GRCm39)		probably null	Het
Lnx2	C	T	5: 146,955,850 (GRCm39)	V649I	probably benign	Het
Lrrc43	A	G	5: 123,637,675 (GRCm39)	I281V	probably benign	Het
Ly6g6d	C	A	17: 35,290,730 (GRCm39)	A67S	probably benign	Het
Map1b	A	G	13: 99,568,720 (GRCm39)	S1334P	probably benign	Het
Mast1	T	A	8: 85,644,500 (GRCm39)	T810S	probably benign	Het
Matcap1	G	T	8: 106,009,843 (GRCm39)	R369S	probably damaging	Het
Mbnl1	A	G	3: 60,503,117 (GRCm39)	M1V	probably null	Het
Mc5r	T	G	18: 68,471,890 (GRCm39)	M83R	possibly damaging	Het
Mkln1	T	C	6: 31,435,941 (GRCm39)	F300S	probably damaging	Het
Mrgpre	A	T	7: 143,335,088 (GRCm39)	C138*	probably null	Het
Mtarc2	T	A	1: 184,566,116 (GRCm39)	M186L	probably benign	Het
Ncbp1	C	T	4: 46,165,273 (GRCm39)	Q529*	probably null	Het
Nherf1	A	G	11: 115,067,289 (GRCm39)	D180G	probably benign	Het
Nrcam	A	G	12: 44,613,082 (GRCm39)	D591G	probably benign	Het
Nrxn3	A	T	12: 88,761,971 (GRCm39)	H6L	possibly damaging	Het
Nsmaf	T	A	4: 6,423,342 (GRCm39)	D342V	probably damaging	Het
Oip5	TGAGAAA	T	2: 119,448,342 (GRCm39)		probably benign	Het
Omt2a	T	A	9: 78,220,305 (GRCm39)	E31D	possibly damaging	Het
Or4f62	A	G	2: 111,986,697 (GRCm39)	T134A	probably benign	Het
Or52n2b	A	G	7: 104,565,915 (GRCm39)	I196T	probably benign	Het
Or5ac20	A	G	16: 59,104,348 (GRCm39)	S171P	probably benign	Het
Or6c88	A	C	10: 129,406,895 (GRCm39)	I124L	probably damaging	Het
Or9a2	C	A	6: 41,749,003 (GRCm39)	V77F	probably damaging	Het
Phyhipl	A	G	10: 70,404,815 (GRCm39)	V131A	probably benign	Het
Pik3r5	A	G	11: 68,384,464 (GRCm39)	M619V	probably benign	Het
Pramel19	T	C	4: 101,798,661 (GRCm39)	Y211H	probably benign	Het
Ptprg	A	T	14: 12,237,837 (GRCm38)	E1431D	probably benign	Het
Rnf20	A	G	4: 49,638,029 (GRCm39)	T85A	probably damaging	Het
Rtn3	A	T	19: 7,433,886 (GRCm39)	I683K	probably damaging	Het
Rwdd3	A	G	3: 120,952,470 (GRCm39)	F174L	probably damaging	Het
Ryr1	T	C	7: 28,778,208 (GRCm39)	Q2096R	possibly damaging	Het
Scrn1	T	C	6: 54,511,407 (GRCm39)	D111G	probably damaging	Het
Sema3e	A	G	5: 14,302,646 (GRCm39)	R724G	possibly damaging	Het
She	A	G	3: 89,741,544 (GRCm39)	M232V	possibly damaging	Het
Skic3	T	A	13: 76,333,275 (GRCm39)	V1508E	possibly damaging	Het
Slc25a54	A	T	3: 109,020,132 (GRCm39)	N382I	possibly damaging	Het
Slc26a2	T	C	18: 61,331,875 (GRCm39)	M519V	probably damaging	Het
Slc9a1	T	A	4: 133,097,967 (GRCm39)	L38H	probably damaging	Het
Snap47	A	T	11: 59,319,369 (GRCm39)	D256E	probably damaging	Het
Tacc3	A	G	5: 33,829,326 (GRCm39)	T610A	probably benign	Het
Tbc1d30	G	A	10: 121,103,121 (GRCm39)	T637M	probably benign	Het
Tbcd	T	A	11: 121,464,681 (GRCm39)	M572K	probably benign	Het
Thoc7	A	T	14: 13,953,460 (GRCm38)	D68E	probably benign	Het
Tmpo	G	A	10: 90,989,171 (GRCm39)	T250M	probably damaging	Het
Tmtc1	TGTCCGCCAGGCCCTTGCCCCAGAAGTC	TGTC	6: 148,345,445 (GRCm39)		probably benign	Het
Tnfaip1	A	T	11: 78,418,396 (GRCm39)	C224S	possibly damaging	Het
Tshz1	T	C	18: 84,032,987 (GRCm39)	T474A	probably benign	Het
Tspoap1	C	T	11: 87,657,222 (GRCm39)	Q345*	probably null	Het
Ttc21a	A	G	9: 119,774,067 (GRCm39)	E258G	possibly damaging	Het
Ttyh1	T	C	7: 4,131,225 (GRCm39)	L232P	probably damaging	Het
Usp2	T	A	9: 43,987,110 (GRCm39)	L136Q	probably damaging	Het
Usp31	T	C	7: 121,247,868 (GRCm39)	S1192G	probably damaging	Het

Other mutations in Lamc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00582:Lamc3	APN	2	31,790,593 (GRCm39)	missense	probably damaging	0.99
IGL00823:Lamc3	APN	2	31,808,533 (GRCm39)	missense	probably damaging	1.00
IGL01020:Lamc3	APN	2	31,804,668 (GRCm39)	missense	probably benign	0.07
IGL01086:Lamc3	APN	2	31,788,488 (GRCm39)	missense	probably damaging	1.00
IGL01618:Lamc3	APN	2	31,802,119 (GRCm39)	missense	probably damaging	0.99
IGL01655:Lamc3	APN	2	31,788,290 (GRCm39)	missense	probably damaging	1.00
IGL02093:Lamc3	APN	2	31,777,667 (GRCm39)	missense	probably damaging	1.00
IGL02309:Lamc3	APN	2	31,804,616 (GRCm39)	splice site	probably benign
IGL02340:Lamc3	APN	2	31,808,469 (GRCm39)	missense	probably damaging	1.00
IGL02410:Lamc3	APN	2	31,795,977 (GRCm39)	missense	probably damaging	0.99
IGL02548:Lamc3	APN	2	31,810,674 (GRCm39)	missense	probably benign	0.00
IGL02679:Lamc3	APN	2	31,835,410 (GRCm39)	missense	probably benign	0.01
IGL02751:Lamc3	APN	2	31,810,716 (GRCm39)	missense	probably benign	0.07
IGL02820:Lamc3	APN	2	31,813,034 (GRCm39)	missense	probably damaging	1.00
IGL02926:Lamc3	APN	2	31,825,738 (GRCm39)	splice site	probably benign
IGL02926:Lamc3	APN	2	31,825,737 (GRCm39)	splice site	probably benign
IGL03090:Lamc3	APN	2	31,798,710 (GRCm39)	splice site	probably benign
IGL03258:Lamc3	APN	2	31,777,695 (GRCm39)	missense	probably damaging	1.00
R0005:Lamc3	UTSW	2	31,812,440 (GRCm39)	missense	probably benign	0.07
R0137:Lamc3	UTSW	2	31,798,628 (GRCm39)	missense	probably damaging	1.00
R0179:Lamc3	UTSW	2	31,805,096 (GRCm39)	splice site	probably benign
R0244:Lamc3	UTSW	2	31,830,733 (GRCm39)	missense	probably damaging	1.00
R0512:Lamc3	UTSW	2	31,827,980 (GRCm39)	missense	probably damaging	1.00
R1052:Lamc3	UTSW	2	31,818,814 (GRCm39)	missense	probably benign	0.03
R1142:Lamc3	UTSW	2	31,830,733 (GRCm39)	missense	probably damaging	1.00
R1366:Lamc3	UTSW	2	31,818,859 (GRCm39)	missense	probably damaging	1.00
R1463:Lamc3	UTSW	2	31,777,423 (GRCm39)	missense	probably benign
R1515:Lamc3	UTSW	2	31,830,763 (GRCm39)	missense	probably damaging	1.00
R1642:Lamc3	UTSW	2	31,806,008 (GRCm39)	missense	probably damaging	1.00
R1692:Lamc3	UTSW	2	31,811,793 (GRCm39)	missense	probably null	0.01
R1707:Lamc3	UTSW	2	31,802,141 (GRCm39)	critical splice donor site	probably null
R1714:Lamc3	UTSW	2	31,830,769 (GRCm39)	missense	probably benign	0.02
R1838:Lamc3	UTSW	2	31,815,594 (GRCm39)	missense	possibly damaging	0.89
R2940:Lamc3	UTSW	2	31,830,714 (GRCm39)	missense	probably benign	0.02
R3177:Lamc3	UTSW	2	31,798,637 (GRCm39)	missense	probably damaging	1.00
R3277:Lamc3	UTSW	2	31,798,637 (GRCm39)	missense	probably damaging	1.00
R3846:Lamc3	UTSW	2	31,814,604 (GRCm39)	missense	probably benign	0.01
R4065:Lamc3	UTSW	2	31,835,270 (GRCm39)	missense	probably benign	0.00
R4089:Lamc3	UTSW	2	31,810,520 (GRCm39)	nonsense	probably null
R4373:Lamc3	UTSW	2	31,788,244 (GRCm39)	missense	probably damaging	1.00
R4394:Lamc3	UTSW	2	31,821,964 (GRCm39)	missense	probably benign
R4395:Lamc3	UTSW	2	31,821,964 (GRCm39)	missense	probably benign
R4397:Lamc3	UTSW	2	31,821,964 (GRCm39)	missense	probably benign
R4746:Lamc3	UTSW	2	31,795,626 (GRCm39)	missense	possibly damaging	0.77
R4948:Lamc3	UTSW	2	31,830,748 (GRCm39)	missense	probably benign	0.02
R5025:Lamc3	UTSW	2	31,798,681 (GRCm39)	missense	probably benign	0.13
R5062:Lamc3	UTSW	2	31,795,679 (GRCm39)	missense	possibly damaging	0.60
R5170:Lamc3	UTSW	2	31,777,356 (GRCm39)	start codon destroyed	probably benign	0.03
R5286:Lamc3	UTSW	2	31,808,608 (GRCm39)	missense	probably damaging	1.00
R5457:Lamc3	UTSW	2	31,821,997 (GRCm39)	missense	probably benign
R5655:Lamc3	UTSW	2	31,815,729 (GRCm39)	missense	probably benign	0.01
R5928:Lamc3	UTSW	2	31,811,721 (GRCm39)	missense	probably benign	0.00
R6018:Lamc3	UTSW	2	31,795,724 (GRCm39)	missense	probably damaging	1.00
R6479:Lamc3	UTSW	2	31,777,413 (GRCm39)	missense	probably benign
R6601:Lamc3	UTSW	2	31,810,544 (GRCm39)	missense	possibly damaging	0.94
R6920:Lamc3	UTSW	2	31,798,701 (GRCm39)	missense	probably damaging	1.00
R6924:Lamc3	UTSW	2	31,828,081 (GRCm39)	missense	probably benign
R7114:Lamc3	UTSW	2	31,820,657 (GRCm39)	missense	probably damaging	0.99
R7305:Lamc3	UTSW	2	31,820,714 (GRCm39)	missense	probably benign	0.39
R7559:Lamc3	UTSW	2	31,812,380 (GRCm39)	missense	probably benign	0.00
R7714:Lamc3	UTSW	2	31,812,279 (GRCm39)	splice site	probably null
R7787:Lamc3	UTSW	2	31,790,551 (GRCm39)	missense	probably damaging	0.99
R7819:Lamc3	UTSW	2	31,811,775 (GRCm39)	missense	probably benign
R8171:Lamc3	UTSW	2	31,804,983 (GRCm39)	missense	probably benign	0.06
R8208:Lamc3	UTSW	2	31,777,426 (GRCm39)	missense	possibly damaging	0.47
R8412:Lamc3	UTSW	2	31,802,128 (GRCm39)	missense	probably damaging	0.98
R9058:Lamc3	UTSW	2	31,798,653 (GRCm39)	missense	probably benign	0.01
R9242:Lamc3	UTSW	2	31,788,323 (GRCm39)	missense	probably benign	0.14
R9269:Lamc3	UTSW	2	31,818,908 (GRCm39)	nonsense	probably null
R9269:Lamc3	UTSW	2	31,813,017 (GRCm39)	missense	probably benign	0.11
X0010:Lamc3	UTSW	2	31,828,024 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCCCTTTGCATGCATGAGC -3'
(R):5'- AGTGTCCATGTCTCCCAAGG -3'

Sequencing Primer
(F):5'- ATGCATGAGCCCCATTGTG -3'
(R):5'- ATGCCACCGTGTCTGCATAG -3'

Posted On

2016-04-27