Mutagenetix > Incidental Mutation

Incidental Mutation 'R1463:Lamc3'

159198

Institutional Source

Beutler Lab

Gene Symbol

Lamc3

Ensembl Gene

ENSMUSG00000026840

Gene Name

laminin gamma 3

Synonyms

MMRRC Submission

039517-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1463 (G1)

Quality Score

168

Status

Validated

Chromosome

Chromosomal Location

31777303-31836551 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 31777423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 23 (T23K)

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: T23K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028187
Gene: ENSMUSG00000026840
AA Change: T23K

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: T23K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000118745
Gene: ENSMUSG00000026840
AA Change: T23K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140104

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.6%

Validation Efficiency

97% (97/100)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,205,384 (GRCm39)	I299N	probably damaging	Het
Abcc8	T	C	7: 45,803,936 (GRCm39)	T413A	probably benign	Het
Actc1	G	A	2: 113,880,010 (GRCm39)	S201F	probably damaging	Het
Adam30	G	A	3: 98,069,841 (GRCm39)	C558Y	probably damaging	Het
Adcy4	T	A	14: 56,016,396 (GRCm39)	I352F	probably damaging	Het
Adgrl4	A	T	3: 151,216,233 (GRCm39)	D472V	probably damaging	Het
Afap1l2	T	A	19: 56,918,583 (GRCm39)	M117L	probably benign	Het
AI597479	T	C	1: 43,152,389 (GRCm39)	V229A	probably damaging	Het
Ascc1	T	C	10: 59,898,338 (GRCm39)	V267A	probably benign	Het
Asxl3	A	G	18: 22,649,810 (GRCm39)	S600G	possibly damaging	Het
Atg14	T	C	14: 47,786,451 (GRCm39)	I268V	probably benign	Het
Bcas1	C	T	2: 170,260,584 (GRCm39)	V32I	probably benign	Het
Cacna1c	G	T	6: 118,570,955 (GRCm39)	D2106E	probably benign	Het
Cacna1i	A	G	15: 80,263,255 (GRCm39)	H1440R	possibly damaging	Het
Catsper2	G	A	2: 121,236,927 (GRCm39)	T240M	probably damaging	Het
Ccn4	T	A	15: 66,791,120 (GRCm39)	N307K	possibly damaging	Het
Cd163	A	G	6: 124,288,406 (GRCm39)	E279G	probably damaging	Het
Cdx2	C	T	5: 147,243,470 (GRCm39)	S108N	probably benign	Het
Cenpf	A	T	1: 189,386,936 (GRCm39)	N1781K	probably damaging	Het
Cgref1	T	A	5: 31,093,338 (GRCm39)		probably benign	Het
Clcn4	C	T	7: 7,299,763 (GRCm39)	W22*	probably null	Het
Cntn2	A	G	1: 132,448,875 (GRCm39)		probably null	Het
Cntn5	C	T	9: 9,673,801 (GRCm39)		probably null	Het
Cpeb3	A	G	19: 37,116,500 (GRCm39)	M377T	probably benign	Het
Cryge	T	A	1: 65,087,997 (GRCm39)	R135*	probably null	Het
Ctdsp2	C	A	10: 126,829,790 (GRCm39)		probably benign	Het
Ctsll3	G	A	13: 60,949,089 (GRCm39)		probably benign	Het
Cuzd1	C	A	7: 130,918,371 (GRCm39)	G189C	probably damaging	Het
Dmbt1	T	A	7: 130,711,366 (GRCm39)		probably null	Het
Dnai4	T	A	4: 102,944,615 (GRCm39)	L245F	possibly damaging	Het
Dnajc13	A	T	9: 104,056,139 (GRCm39)	S1587R	probably damaging	Het
Dock4	GCTCAGTGTATC	GC	12: 40,866,324 (GRCm39)		probably null	Het
Dock6	T	C	9: 21,743,202 (GRCm39)	H701R	probably damaging	Het
Edem3	A	G	1: 151,683,261 (GRCm39)	T646A	possibly damaging	Het
Esrra	A	C	19: 6,889,823 (GRCm39)	D160E	probably benign	Het
Fbn2	T	C	18: 58,143,452 (GRCm39)	T2868A	probably benign	Het
Galnt7	T	A	8: 58,105,892 (GRCm39)	M41L	probably benign	Het
Gbf1	T	C	19: 46,259,984 (GRCm39)		probably benign	Het
Glyat	A	G	19: 12,625,467 (GRCm39)	N63S	probably damaging	Het
Gm9376	A	T	14: 118,504,894 (GRCm39)	M109L	probably benign	Het
H2-M10.3	A	G	17: 36,677,612 (GRCm39)	V222A	probably damaging	Het
Ifna12	T	G	4: 88,521,193 (GRCm39)	D118A	possibly damaging	Het
Inpp5j	T	C	11: 3,451,147 (GRCm39)	M501V	probably benign	Het
Itpr3	C	T	17: 27,336,128 (GRCm39)		probably benign	Het
Ivns1abp	A	G	1: 151,237,291 (GRCm39)	N527S	probably benign	Het
Kif13a	T	C	13: 47,083,088 (GRCm39)	T4A	possibly damaging	Het
Kif3b	T	C	2: 153,172,073 (GRCm39)	*748Q	probably null	Het
Klf8	C	T	X: 152,167,677 (GRCm39)	Q241*	probably null	Het
Kras	A	T	6: 145,170,787 (GRCm39)		probably benign	Het
Lrrc74b	T	A	16: 17,377,737 (GRCm39)	H47L	probably benign	Het
Ly75	A	G	2: 60,199,101 (GRCm39)		probably null	Het
Map3k21	G	A	8: 126,668,876 (GRCm39)	G821S	probably benign	Het
Mettl14	A	G	3: 123,167,722 (GRCm39)		probably benign	Het
Mettl5	T	C	2: 69,715,590 (GRCm39)		probably benign	Het
Mier3	A	G	13: 111,848,289 (GRCm39)	D301G	probably damaging	Het
Mipep	T	C	14: 61,025,595 (GRCm39)		probably benign	Het
Mmp21	T	C	7: 133,277,588 (GRCm39)		probably null	Het
Msh4	A	G	3: 153,563,207 (GRCm39)	L723P	probably damaging	Het
Muc5b	T	C	7: 141,412,817 (GRCm39)	V1921A	unknown	Het
Myo1e	G	A	9: 70,246,038 (GRCm39)	E410K	possibly damaging	Het
Nav2	T	G	7: 49,185,710 (GRCm39)	I951S	probably damaging	Het
Npc1	G	A	18: 12,324,887 (GRCm39)	T1202I	probably damaging	Het
Or10j3	A	G	1: 173,030,934 (GRCm39)	K4E	probably benign	Het
Or2ab1	A	G	11: 58,488,947 (GRCm39)	R242G	probably damaging	Het
Or5a3	C	T	19: 12,400,252 (GRCm39)	T193I	probably benign	Het
Pacc1	T	C	1: 191,060,486 (GRCm39)		probably benign	Het
Patl2	C	T	2: 121,954,216 (GRCm39)	V452M	probably benign	Het
Pcdh18	A	G	3: 49,709,854 (GRCm39)	V487A	probably damaging	Het
Pdzph1	C	T	17: 59,239,440 (GRCm39)	A963T	probably damaging	Het
Pkd1l1	C	T	11: 8,866,302 (GRCm39)	V518M	probably damaging	Het
Plcd3	A	G	11: 102,969,199 (GRCm39)	F256S	probably damaging	Het
Proc	T	C	18: 32,266,491 (GRCm39)	D112G	possibly damaging	Het
Ptges2	T	A	2: 32,290,874 (GRCm39)		probably null	Het
Pth2r	A	T	1: 65,402,436 (GRCm39)	R312W	probably damaging	Het
Pttg1ip2	C	A	5: 5,502,073 (GRCm39)		probably benign	Het
Rbbp6	C	T	7: 122,591,676 (GRCm39)	H546Y	possibly damaging	Het
Retreg2	A	G	1: 75,123,164 (GRCm39)	E364G	probably damaging	Het
Rxrb	G	A	17: 34,253,134 (GRCm39)	C185Y	probably damaging	Het
Septin2	T	A	1: 93,427,037 (GRCm39)	N133K	possibly damaging	Het
Serpina3b	T	A	12: 104,104,969 (GRCm39)	S382T	probably benign	Het
Serpinb9e	T	C	13: 33,439,099 (GRCm39)	F175S	probably benign	Het
Slc19a2	C	T	1: 164,084,766 (GRCm39)	H219Y	probably damaging	Het
Slfn9	A	T	11: 82,872,524 (GRCm39)	D737E	possibly damaging	Het
Snx31	T	C	15: 36,539,444 (GRCm39)	E144G	probably null	Het
Sp2	A	G	11: 96,854,282 (GRCm39)		probably benign	Het
Spag9	C	T	11: 94,007,663 (GRCm39)	L1117F	probably damaging	Het
Spata31e2	G	T	1: 26,721,222 (GRCm39)	Y1319*	probably null	Het
Syndig1l	A	T	12: 84,727,137 (GRCm39)		probably benign	Het
Sypl1	A	T	12: 33,024,332 (GRCm39)		probably benign	Het
Tmem169	T	C	1: 72,339,855 (GRCm39)	M95T	probably benign	Het
Tnfrsf17	A	G	16: 11,133,066 (GRCm39)	Y48C	possibly damaging	Het
Ttn	A	T	2: 76,657,859 (GRCm39)		probably benign	Het
Uap1	G	C	1: 169,977,952 (GRCm39)	H366Q	probably benign	Het
Ulbp1	A	G	10: 7,396,557 (GRCm39)		probably benign	Het
Urb2	T	C	8: 124,757,647 (GRCm39)	V1118A	probably benign	Het
Usp54	T	C	14: 20,600,258 (GRCm39)	N1493S	probably benign	Het
Vmn1r129	C	A	7: 21,094,655 (GRCm39)	V188F	probably benign	Het
Vmn1r226	A	T	17: 20,907,994 (GRCm39)	L75F	probably benign	Het
Yes1	T	A	5: 32,809,046 (GRCm39)	S137R	probably benign	Het
Zfp804b	A	G	5: 7,229,372 (GRCm39)		probably benign	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
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
R4960:Lamc3	UTSW	2	31,805,966 (GRCm39)	missense	probably benign	0.00
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'- TTCCATAGAAGAGCCGCATTAGCAG -3'
(R):5'- TCAGGTTAACAGAGGTGGGGTACTG -3'

Sequencing Primer
(F):5'- GCCGCATTAGCAGAATAACTTG -3'
(R):5'- ATGGATGGGCTCTGCCAC -3'

Posted On

2014-03-14