Mutagenetix > Incidental Mutation

Incidental Mutation 'R4948:Lamc3'

383549

Institutional Source

Beutler Lab

Gene Symbol

Lamc3

Ensembl Gene

ENSMUSG00000026840

Gene Name

laminin gamma 3

Synonyms

MMRRC Submission

042545-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4948 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31777303-31836551 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31830748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1495 (I1495T)

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: I1484T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000028187
Gene: ENSMUSG00000026840
AA Change: I1484T

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: I1495T

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000118745
Gene: ENSMUSG00000026840
AA Change: I1495T

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

Meta Mutation Damage Score

0.0818

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.3%
20x: 92.2%

Validation Efficiency

94% (103/109)

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
2610318N02Rik	A	T	16: 16,936,154 (GRCm39)		probably null	Het
Adcy4	C	T	14: 56,016,486 (GRCm39)	D322N	probably damaging	Het
Alas1	A	T	9: 106,124,077 (GRCm39)	L27*	probably null	Het
Aldh1a7	A	G	19: 20,704,374 (GRCm39)	V40A	possibly damaging	Het
Appbp2	A	T	11: 85,085,409 (GRCm39)	I499K	possibly damaging	Het
B3gnt5	A	C	16: 19,587,894 (GRCm39)	M38L	probably benign	Het
Brd8	A	G	18: 34,747,585 (GRCm39)	V92A	probably damaging	Het
Btla	A	T	16: 45,063,091 (GRCm39)	E151D	probably benign	Het
Cd79b	T	A	11: 106,203,687 (GRCm39)	T67S	probably benign	Het
Cep192	A	G	18: 67,949,875 (GRCm39)	R320G	probably benign	Het
Chad	A	C	11: 94,456,528 (GRCm39)	D202A	probably damaging	Het
Chil6	A	G	3: 106,295,988 (GRCm39)		probably benign	Het
Cpz	T	C	5: 35,674,748 (GRCm39)	E167G	possibly damaging	Het
Crisp2	T	G	17: 41,076,159 (GRCm39)	H225P	probably damaging	Het
Cyp2c23	T	C	19: 44,010,138 (GRCm39)	Y69C	possibly damaging	Het
Dcp1a	T	A	14: 30,201,724 (GRCm39)	L49H	probably damaging	Het
Dnah6	T	A	6: 73,030,672 (GRCm39)	H3380L	probably benign	Het
Dnai3	T	A	3: 145,788,820 (GRCm39)	K254*	probably null	Het
Dnm2	A	G	9: 21,415,829 (GRCm39)	D721G	possibly damaging	Het
Dnpep	G	T	1: 75,293,404 (GRCm39)	T15K	probably benign	Het
Dock3	A	T	9: 106,868,354 (GRCm39)	D643E	probably damaging	Het
Ear6	C	T	14: 52,091,573 (GRCm39)	T40I	possibly damaging	Het
Fancm	A	G	12: 65,137,748 (GRCm39)	D313G	probably damaging	Het
Fbxw16	T	A	9: 109,267,415 (GRCm39)	E272V	probably damaging	Het
Frmd4b	T	A	6: 97,283,691 (GRCm39)	E393D	probably benign	Het
Fryl	T	A	5: 73,246,473 (GRCm39)	M1100L	probably benign	Het
Gjd3	T	C	11: 102,691,247 (GRCm39)	H252R	probably damaging	Het
Gm10518	T	C	1: 179,631,477 (GRCm39)		probably benign	Het
Gna14	A	G	19: 16,580,656 (GRCm39)	M165V	probably benign	Het
Hells	C	A	19: 38,923,966 (GRCm39)	Q72K	probably damaging	Het
Herc1	A	G	9: 66,392,184 (GRCm39)	I4031V	probably benign	Het
Hspa2	C	T	12: 76,452,761 (GRCm39)	A485V	probably damaging	Het
Ighv1-54	T	A	12: 115,157,438 (GRCm39)	I70F	probably benign	Het
Il20rb	A	T	9: 100,343,592 (GRCm39)		probably benign	Het
Irag1	A	G	7: 110,487,236 (GRCm39)	V498A	probably damaging	Het
Krt1	C	A	15: 101,754,376 (GRCm39)	V625L	unknown	Het
Larp6	A	G	9: 60,645,063 (GRCm39)	E401G	possibly damaging	Het
Ldha	A	T	7: 46,496,805 (GRCm39)	H19L	probably benign	Het
Lrba	A	G	3: 86,192,335 (GRCm39)	N83S	probably damaging	Het
Lrp4	G	T	2: 91,316,231 (GRCm39)	R783L	probably benign	Het
Lrrk2	T	G	15: 91,687,592 (GRCm39)	I2227S	probably benign	Het
Lvrn	T	C	18: 47,013,803 (GRCm39)	L495P	probably damaging	Het
Macf1	T	C	4: 123,391,548 (GRCm39)	N1077S	probably damaging	Het
Mboat1	A	G	13: 30,425,213 (GRCm39)	T425A	probably damaging	Het
Mcam	A	G	9: 44,047,863 (GRCm39)	E36G	probably damaging	Het
Meis1	T	A	11: 18,966,308 (GRCm39)	T22S	probably benign	Het
Micu1	A	G	10: 59,699,076 (GRCm39)	K451R	possibly damaging	Het
Nat8	A	T	6: 85,807,505 (GRCm39)	D209E	probably benign	Het
Nek10	T	A	14: 14,860,986 (GRCm38)	L513M	possibly damaging	Het
Nmral1	G	A	16: 4,534,274 (GRCm39)	R56*	probably null	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or10j27	A	G	1: 172,958,526 (GRCm39)	V86A	probably benign	Het
Or5b99	A	T	19: 12,977,195 (GRCm39)	T282S	probably benign	Het
Or5g25	T	C	2: 85,477,916 (GRCm39)	I250V	probably benign	Het
Or5h24	G	A	16: 58,919,340 (GRCm39)	T5I	probably damaging	Het
Palm3	A	T	8: 84,753,708 (GRCm39)	R132*	probably null	Het
Pax2	A	G	19: 44,804,479 (GRCm39)	Y272C	probably damaging	Het
Phc2	G	A	4: 128,616,908 (GRCm39)	A394T	probably benign	Het
Phf2	C	A	13: 48,961,198 (GRCm39)	G831C	unknown	Het
Pik3c2b	G	A	1: 133,027,453 (GRCm39)		probably null	Het
Plin2	T	A	4: 86,580,228 (GRCm39)	I178F	probably benign	Het
Pramel32	A	T	4: 88,547,185 (GRCm39)	L162H	probably damaging	Het
Prdm14	T	A	1: 13,192,855 (GRCm39)	I295F	probably damaging	Het
Psmd5	C	T	2: 34,760,795 (GRCm39)	R47H	probably benign	Het
Ptchd3	T	A	11: 121,733,342 (GRCm39)	I744K	probably damaging	Het
Ptrh1	T	A	2: 32,666,557 (GRCm39)		probably benign	Het
Rab6a	A	G	7: 100,277,627 (GRCm39)	D49G	probably damaging	Het
Radil	A	T	5: 142,470,994 (GRCm39)	D1062E	probably benign	Het
Robo2	A	G	16: 74,149,726 (GRCm39)	V34A	possibly damaging	Het
Sall3	G	A	18: 81,014,626 (GRCm39)	P1029S	probably benign	Het
Sec14l3	A	G	11: 4,018,101 (GRCm39)	D127G	possibly damaging	Het
Sel1l2	A	G	2: 140,086,086 (GRCm39)	Y502H	probably damaging	Het
Serpina1f	A	G	12: 103,656,010 (GRCm39)	V406A	probably damaging	Het
Sf3b3	T	C	8: 111,540,301 (GRCm39)	D1040G	probably damaging	Het
Sgcd	A	G	11: 46,870,262 (GRCm39)	I233T	possibly damaging	Het
Slc15a3	A	G	19: 10,820,410 (GRCm39)	Q9R	probably benign	Het
Slc25a46	A	G	18: 31,716,336 (GRCm39)	F389L	probably damaging	Het
Slc26a2	G	T	18: 61,331,330 (GRCm39)	C700*	probably null	Het
Slc4a7	A	G	14: 14,771,283 (GRCm38)	Y671C	possibly damaging	Het
Slc5a10	A	T	11: 61,610,708 (GRCm39)	I22N	probably damaging	Het
Slc5a9	C	A	4: 111,748,941 (GRCm39)		probably null	Het
Slc6a12	A	G	6: 121,332,281 (GRCm39)	D205G	probably benign	Het
Tas2r115	G	A	6: 132,714,124 (GRCm39)	H276Y	probably damaging	Het
Tdpoz4	T	A	3: 93,704,318 (GRCm39)	I205N	probably damaging	Het
Tfeb	C	T	17: 48,096,904 (GRCm39)	T33I	probably benign	Het
Tgm3	A	G	2: 129,890,240 (GRCm39)	T668A	probably benign	Het
Tnpo3	A	G	6: 29,582,259 (GRCm39)	V201A	probably benign	Het
Tpcn1	T	A	5: 120,694,596 (GRCm39)	M158L	probably benign	Het
Trim47	A	C	11: 115,996,918 (GRCm39)	L612R	probably damaging	Het
Trmt10c	A	T	16: 55,854,438 (GRCm39)	L399*	probably null	Het
Trpm2	A	T	10: 77,753,626 (GRCm39)	S1293T	probably benign	Het
Ttn	C	T	2: 76,582,941 (GRCm39)	V22651I	probably damaging	Het
Tubgcp5	A	G	7: 55,455,871 (GRCm39)	I300V	probably benign	Het
Uty	T	A	Y: 1,136,883 (GRCm39)	Q844L	probably damaging	Het
Vmn2r85	C	T	10: 130,254,990 (GRCm39)	E565K	probably damaging	Het
Vmn2r97	T	C	17: 19,167,561 (GRCm39)	V605A	possibly damaging	Het
Vwa3a	T	C	7: 120,375,487 (GRCm39)	V399A	probably damaging	Het
Wnk4	G	A	11: 101,159,107 (GRCm39)	R508Q	probably damaging	Het
Zfp217	A	G	2: 169,961,130 (GRCm39)	V399A	probably damaging	Het
Zfp616	T	A	11: 73,974,830 (GRCm39)	N457K	possibly 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
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'- GGAAGCCACTAAGATGTTCTTTCC -3'
(R):5'- GAGACACAGTGAATTCAACCTC -3'

Sequencing Primer
(F):5'- TTTAATCCCAGCACTCGGGAG -3'
(R):5'- CCTATACAGGGCCTGGATGG -3'

Posted On

2016-04-27