Mutagenetix > Incidental Mutation

Incidental Mutation 'R2117:Lamb3'

231026

Institutional Source

Beutler Lab

Gene Symbol

Lamb3

Ensembl Gene

ENSMUSG00000026639

Gene Name

laminin, beta 3

Synonyms

nicein, 125kDa

MMRRC Submission

040121-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.666) question?

Stock #

R2117 (G1)

Quality Score

187

Status

Not validated

Chromosome

Chromosomal Location

192976661-193026186 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 193016489 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 657 (R657G)

Ref Sequence

ENSEMBL: ENSMUSP00000142053 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016315] [ENSMUST00000159955] [ENSMUST00000194677]

AlphaFold

Q61087

Predicted Effect

probably benign
Transcript: ENSMUST00000016315
AA Change: R657G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000016315
Gene: ENSMUSG00000026639
AA Change: R657G

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
LamNT	20	248	7.63e-84	SMART
EGF_Lam	250	310	1.67e-7	SMART
EGF_Lam	313	373	1.14e-9	SMART
EGF_Lam	376	425	5.56e-13	SMART
EGF_Lam	428	475	6.05e-14	SMART
EGF_Lam	478	528	5e-6	SMART
EGF_Lam	531	575	3.01e-9	SMART
low complexity region	662	673	N/A	INTRINSIC
low complexity region	727	763	N/A	INTRINSIC
coiled coil region	830	879	N/A	INTRINSIC
coiled coil region	949	979	N/A	INTRINSIC
coiled coil region	1037	1090	N/A	INTRINSIC
low complexity region	1116	1126	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159955
AA Change: R657G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000123875
Gene: ENSMUSG00000026639
AA Change: R657G

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
LamNT	20	248	7.63e-84	SMART
EGF_Lam	250	310	1.67e-7	SMART
EGF_Lam	313	373	1.14e-9	SMART
EGF_Lam	376	425	5.56e-13	SMART
EGF_Lam	428	475	6.05e-14	SMART
EGF_Lam	478	528	5e-6	SMART
EGF_Lam	531	575	3.01e-9	SMART
low complexity region	662	673	N/A	INTRINSIC
low complexity region	727	763	N/A	INTRINSIC
coiled coil region	830	879	N/A	INTRINSIC
coiled coil region	949	979	N/A	INTRINSIC
coiled coil region	1037	1090	N/A	INTRINSIC
low complexity region	1116	1126	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000194677
AA Change: R657G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000142053
Gene: ENSMUSG00000026639
AA Change: R657G

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
LamNT	20	248	7.63e-84	SMART
EGF_Lam	250	310	1.67e-7	SMART
EGF_Lam	313	373	1.14e-9	SMART
EGF_Lam	376	425	5.56e-13	SMART
EGF_Lam	428	475	6.05e-14	SMART
EGF_Lam	478	528	5e-6	SMART
EGF_Lam	531	575	3.01e-9	SMART
low complexity region	662	673	N/A	INTRINSIC
low complexity region	727	763	N/A	INTRINSIC
coiled coil region	830	879	N/A	INTRINSIC
coiled coil region	949	979	N/A	INTRINSIC
coiled coil region	1037	1090	N/A	INTRINSIC
low complexity region	1116	1126	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a spontaneous intracisternal A particle sequence insertion exhibit blistering of the skin and mucosal surfaces with abnormal hemidesmosomes. Mutants die neonatally, usually without feeding. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,640,656 (GRCm39)	C3357S	probably benign	Het
Ago1	T	A	4: 126,357,650 (GRCm39)		probably null	Het
Akap10	A	T	11: 61,781,129 (GRCm39)	D562E	possibly damaging	Het
Akr1b7	G	A	6: 34,395,929 (GRCm39)	A144T	possibly damaging	Het
Ankle1	A	G	8: 71,860,562 (GRCm39)	T340A	probably benign	Het
Arf5	C	T	6: 28,424,783 (GRCm39)	Q71*	probably null	Het
Arl15	C	T	13: 114,104,196 (GRCm39)	S111F	probably damaging	Het
Asph	G	A	4: 9,517,671 (GRCm39)	Q468*	probably null	Het
Bcam	G	T	7: 19,492,352 (GRCm39)	A581E	possibly damaging	Het
Blvra	G	T	2: 126,927,989 (GRCm39)	E80*	probably null	Het
Ccr6	T	C	17: 8,474,914 (GRCm39)	F40L	possibly damaging	Het
Cfap161	A	T	7: 83,425,184 (GRCm39)	N302K	possibly damaging	Het
Ckmt2	T	A	13: 92,003,964 (GRCm39)	I345F	probably benign	Het
Cpsf6	A	G	10: 117,202,025 (GRCm39)		probably benign	Het
Ctnna1	A	G	18: 35,285,678 (GRCm39)	N8S	possibly damaging	Het
Cyp2d11	A	G	15: 82,275,954 (GRCm39)	L209P	probably damaging	Het
Dab2	T	C	15: 6,465,096 (GRCm39)	V628A	probably damaging	Het
Dcstamp	C	T	15: 39,618,571 (GRCm39)	Q327*	probably null	Het
Defb38	A	T	8: 19,073,483 (GRCm39)	Y63*	probably null	Het
Dlg5	A	T	14: 24,227,826 (GRCm39)	L365*	probably null	Het
Dnai7	C	T	6: 145,150,967 (GRCm39)		probably null	Het
Dnmt3l	C	A	10: 77,899,130 (GRCm39)	L110I	probably damaging	Het
Exoc3l2	G	T	7: 19,228,907 (GRCm39)	L108F	possibly damaging	Het
Exoc4	T	A	6: 33,324,760 (GRCm39)	N351K	possibly damaging	Het
Fam83h	C	A	15: 75,876,582 (GRCm39)	E252*	probably null	Het
Fancm	A	G	12: 65,123,948 (GRCm39)	D202G	probably damaging	Het
Fat1	T	A	8: 45,490,500 (GRCm39)	V3804E	probably benign	Het
Fbxw28	T	C	9: 109,159,985 (GRCm39)	T190A	probably benign	Het
Fer1l4	T	C	2: 155,881,038 (GRCm39)	T843A	probably benign	Het
Fnip1	A	T	11: 54,391,450 (GRCm39)	H461L	probably damaging	Het
Gcn1	A	T	5: 115,736,884 (GRCm39)	M1276L	probably benign	Het
Gemin4	A	G	11: 76,101,827 (GRCm39)	V978A	possibly damaging	Het
Gm7247	A	T	14: 51,602,792 (GRCm39)	I43F	probably damaging	Het
Gm9978	C	T	10: 78,322,731 (GRCm39)		noncoding transcript	Het
Gpr4	T	C	7: 18,957,070 (GRCm39)	S331P	probably damaging	Het
Hspa1a	T	A	17: 35,189,455 (GRCm39)	N483Y	probably damaging	Het
Ift74	A	G	4: 94,515,496 (GRCm39)	T138A	probably benign	Het
Ints14	T	G	9: 64,887,077 (GRCm39)	L336R	probably damaging	Het
Irak1	G	T	X: 73,066,218 (GRCm39)	P197Q	possibly damaging	Het
Kif4	A	G	X: 99,709,323 (GRCm39)	S315G	probably benign	Het
L3mbtl1	T	A	2: 162,801,990 (GRCm39)		probably null	Het
Ldc1	C	A	4: 130,109,156 (GRCm39)	V295L	possibly damaging	Het
Lrp2	A	C	2: 69,313,729 (GRCm39)	V2334G	probably benign	Het
Lrwd1	T	A	5: 136,159,332 (GRCm39)	Y431F	probably damaging	Het
Map3k21	A	T	8: 126,650,781 (GRCm39)	H261L	probably benign	Het
Meis1	G	T	11: 18,831,679 (GRCm39)	P453Q	probably damaging	Het
Mettl16	G	T	11: 74,693,755 (GRCm39)	M255I	probably benign	Het
Mllt10	A	G	2: 18,167,380 (GRCm39)	N435S	probably benign	Het
Mta2	T	C	19: 8,920,880 (GRCm39)	I27T	probably damaging	Het
Nav2	A	G	7: 49,114,328 (GRCm39)	I771V	probably benign	Het
Nisch	A	T	14: 30,899,242 (GRCm39)		probably benign	Het
Npc1	G	A	18: 12,329,613 (GRCm39)	P990L	probably damaging	Het
Nrxn1	A	T	17: 91,011,705 (GRCm39)	I308K	probably damaging	Het
Or13l2	C	A	3: 97,317,765 (GRCm39)	C244F	probably damaging	Het
Or1ad6	A	T	11: 50,860,147 (GRCm39)	I101F	probably damaging	Het
Or5h17	T	C	16: 58,820,783 (GRCm39)	L245P	possibly damaging	Het
Otogl	T	C	10: 107,694,779 (GRCm39)	D823G	probably benign	Het
P2rx7	A	G	5: 122,819,329 (GRCm39)	T584A	probably benign	Het
Pals1	T	C	12: 78,856,696 (GRCm39)	F180L	possibly damaging	Het
Pank1	T	A	19: 34,818,486 (GRCm39)	I18F	probably damaging	Het
Pgap3	A	G	11: 98,281,933 (GRCm39)	L126P	probably damaging	Het
Pgap6	C	T	17: 26,336,858 (GRCm39)	L259F	possibly damaging	Het
Phka1	C	T	X: 101,653,807 (GRCm39)	R290H	probably damaging	Het
Pkd2	G	A	5: 104,631,042 (GRCm39)	E489K	probably damaging	Het
Prdm16	T	A	4: 154,432,382 (GRCm39)	S296C	probably null	Het
Prex2	T	A	1: 11,256,937 (GRCm39)	N1216K	probably damaging	Het
Prmt7	A	G	8: 106,953,930 (GRCm39)	T124A	probably damaging	Het
Ptpra	G	T	2: 130,381,655 (GRCm39)	R372L	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rap2b	G	T	3: 61,272,512 (GRCm39)	G12V	probably damaging	Het
Rapgef5	T	A	12: 117,677,799 (GRCm39)		probably null	Het
Rassf4	A	G	6: 116,622,088 (GRCm39)	F168S	possibly damaging	Het
Rtf1	T	A	2: 119,535,999 (GRCm39)	H184Q	probably benign	Het
Sacs	A	G	14: 61,451,220 (GRCm39)	K4422R	probably benign	Het
Sec11c	A	T	18: 65,933,720 (GRCm39)	T9S	probably benign	Het
Sema3d	C	T	5: 12,613,240 (GRCm39)	T439I	probably benign	Het
Sephs1	A	G	2: 4,904,351 (GRCm39)	N243S	probably benign	Het
Setd2	TTGGGA	T	9: 110,433,212 (GRCm39)		probably null	Het
Setx	A	G	2: 29,020,313 (GRCm39)	D100G	probably benign	Het
Slc22a7	C	A	17: 46,744,898 (GRCm39)	V383L	possibly damaging	Het
Slc25a40	T	C	5: 8,480,417 (GRCm39)	C56R	probably damaging	Het
Stk38l	T	A	6: 146,670,344 (GRCm39)	L229I	probably damaging	Het
Sult2a5	T	C	7: 13,359,359 (GRCm39)	S112P	probably damaging	Het
Syt4	A	G	18: 31,573,520 (GRCm39)	Y332H	probably damaging	Het
Tcof1	T	C	18: 60,965,857 (GRCm39)	E415G	possibly damaging	Het
Tenm2	A	G	11: 35,915,681 (GRCm39)	L1951P	probably damaging	Het
Tlr9	A	G	9: 106,102,536 (GRCm39)	N609S	probably damaging	Het
Tmem120a	A	T	5: 135,764,977 (GRCm39)	S266T	possibly damaging	Het
Tmem132b	A	G	5: 125,699,615 (GRCm39)	E92G	probably damaging	Het
Tnfrsf18	T	A	4: 156,112,973 (GRCm39)	V196E	probably damaging	Het
Trpc1	A	T	9: 95,599,637 (GRCm39)	L474H	probably damaging	Het
Trpm6	T	C	19: 18,807,316 (GRCm39)	V1020A	probably damaging	Het
Usp20	T	A	2: 30,906,317 (GRCm39)	C562S	probably damaging	Het
Usp47	T	A	7: 111,666,443 (GRCm39)		probably null	Het
Vgll1	A	C	X: 56,137,790 (GRCm39)	K53T	probably damaging	Het
Vmn1r26	T	C	6: 57,985,335 (GRCm39)	N285D	possibly damaging	Het
Zfp445	T	A	9: 122,682,502 (GRCm39)	K480*	probably null	Het
Zfp786	A	G	6: 47,803,931 (GRCm39)	V37A	probably damaging	Het
Zfp821	A	G	8: 110,447,851 (GRCm39)	E64G	probably damaging	Het
Zfp994	T	A	17: 22,419,962 (GRCm39)	D329V	probably damaging	Het
Zkscan8	T	C	13: 21,704,488 (GRCm39)	S484G	probably damaging	Het

Other mutations in Lamb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Lamb3	APN	1	193,002,755 (GRCm39)	missense	probably damaging	1.00
IGL00898:Lamb3	APN	1	193,021,191 (GRCm39)	missense	possibly damaging	0.81
IGL01599:Lamb3	APN	1	193,025,720 (GRCm39)	missense	probably benign
IGL02108:Lamb3	APN	1	193,014,530 (GRCm39)	missense	probably damaging	1.00
IGL02218:Lamb3	APN	1	193,010,941 (GRCm39)	critical splice acceptor site	probably null
IGL02437:Lamb3	APN	1	193,010,253 (GRCm39)	missense	probably damaging	1.00
IGL02659:Lamb3	APN	1	193,014,469 (GRCm39)	missense	probably damaging	1.00
IGL02677:Lamb3	APN	1	193,021,830 (GRCm39)	missense	probably benign	0.01
IGL02815:Lamb3	APN	1	193,007,863 (GRCm39)	splice site	probably benign
G1patch:Lamb3	UTSW	1	192,986,890 (GRCm39)	missense	probably benign	0.05
R0238:Lamb3	UTSW	1	193,003,361 (GRCm39)	missense	probably damaging	1.00
R0238:Lamb3	UTSW	1	193,003,361 (GRCm39)	missense	probably damaging	1.00
R0239:Lamb3	UTSW	1	193,003,361 (GRCm39)	missense	probably damaging	1.00
R0239:Lamb3	UTSW	1	193,003,361 (GRCm39)	missense	probably damaging	1.00
R0240:Lamb3	UTSW	1	193,017,335 (GRCm39)	missense	probably damaging	1.00
R0240:Lamb3	UTSW	1	193,017,335 (GRCm39)	missense	probably damaging	1.00
R0265:Lamb3	UTSW	1	193,002,839 (GRCm39)	missense	probably damaging	1.00
R0455:Lamb3	UTSW	1	193,025,700 (GRCm39)	missense	probably damaging	0.99
R0647:Lamb3	UTSW	1	193,013,104 (GRCm39)	missense	probably damaging	0.99
R0669:Lamb3	UTSW	1	193,014,638 (GRCm39)	missense	probably damaging	1.00
R0826:Lamb3	UTSW	1	193,013,216 (GRCm39)	nonsense	probably null
R1552:Lamb3	UTSW	1	193,013,067 (GRCm39)	splice site	probably null
R1560:Lamb3	UTSW	1	193,021,710 (GRCm39)	missense	probably benign	0.05
R1593:Lamb3	UTSW	1	193,013,104 (GRCm39)	missense	probably damaging	0.99
R1599:Lamb3	UTSW	1	193,002,801 (GRCm39)	missense	probably damaging	1.00
R1831:Lamb3	UTSW	1	193,017,187 (GRCm39)	missense	probably damaging	0.99
R1848:Lamb3	UTSW	1	193,016,924 (GRCm39)	missense	possibly damaging	0.96
R2147:Lamb3	UTSW	1	193,010,212 (GRCm39)	missense	probably benign	0.00
R2148:Lamb3	UTSW	1	193,010,212 (GRCm39)	missense	probably benign	0.00
R2879:Lamb3	UTSW	1	193,013,092 (GRCm39)	missense	possibly damaging	0.67
R3019:Lamb3	UTSW	1	193,013,717 (GRCm39)	critical splice donor site	probably null
R4380:Lamb3	UTSW	1	193,013,683 (GRCm39)	missense	probably benign	0.10
R4648:Lamb3	UTSW	1	193,013,665 (GRCm39)	missense	probably damaging	0.99
R4758:Lamb3	UTSW	1	193,022,269 (GRCm39)	missense	possibly damaging	0.65
R4790:Lamb3	UTSW	1	193,022,194 (GRCm39)	missense	probably damaging	1.00
R4895:Lamb3	UTSW	1	193,014,622 (GRCm39)	nonsense	probably null
R5316:Lamb3	UTSW	1	193,012,501 (GRCm39)	missense	probably benign	0.00
R5457:Lamb3	UTSW	1	193,008,302 (GRCm39)	missense	probably damaging	1.00
R5952:Lamb3	UTSW	1	193,014,670 (GRCm39)	missense	probably benign	0.04
R5965:Lamb3	UTSW	1	193,025,768 (GRCm39)	missense	probably damaging	1.00
R6334:Lamb3	UTSW	1	193,017,782 (GRCm39)	missense	probably damaging	0.96
R6522:Lamb3	UTSW	1	193,017,761 (GRCm39)	missense	probably benign	0.01
R6725:Lamb3	UTSW	1	192,986,890 (GRCm39)	missense	probably benign	0.05
R6791:Lamb3	UTSW	1	193,017,169 (GRCm39)	missense	possibly damaging	0.93
R6828:Lamb3	UTSW	1	193,017,756 (GRCm39)	missense	probably benign	0.00
R7143:Lamb3	UTSW	1	192,986,873 (GRCm39)	missense	probably damaging	1.00
R7329:Lamb3	UTSW	1	193,002,848 (GRCm39)	missense	possibly damaging	0.89
R7439:Lamb3	UTSW	1	193,014,474 (GRCm39)	missense	possibly damaging	0.80
R7556:Lamb3	UTSW	1	193,014,757 (GRCm39)	missense	probably benign
R8051:Lamb3	UTSW	1	193,012,375 (GRCm39)	missense	possibly damaging	0.80
R8220:Lamb3	UTSW	1	193,016,556 (GRCm39)	missense	probably damaging	1.00
R8719:Lamb3	UTSW	1	193,006,099 (GRCm39)	missense	probably damaging	1.00
R8878:Lamb3	UTSW	1	193,013,124 (GRCm39)	missense	probably damaging	1.00
R8880:Lamb3	UTSW	1	193,003,363 (GRCm39)	missense	possibly damaging	0.74
R8885:Lamb3	UTSW	1	193,017,182 (GRCm39)	missense	probably benign	0.04
R8893:Lamb3	UTSW	1	193,014,644 (GRCm39)	missense	probably damaging	1.00
R8934:Lamb3	UTSW	1	193,021,168 (GRCm39)	missense	probably damaging	1.00
R8944:Lamb3	UTSW	1	193,014,525 (GRCm39)	nonsense	probably null
R9043:Lamb3	UTSW	1	193,007,919 (GRCm39)	nonsense	probably null
R9219:Lamb3	UTSW	1	193,010,232 (GRCm39)	missense	probably damaging	1.00
R9329:Lamb3	UTSW	1	193,014,665 (GRCm39)	missense	probably benign	0.28
R9402:Lamb3	UTSW	1	193,013,704 (GRCm39)	missense
R9415:Lamb3	UTSW	1	193,008,319 (GRCm39)	missense	probably benign	0.13
R9555:Lamb3	UTSW	1	193,011,113 (GRCm39)	missense	possibly damaging	0.67
X0066:Lamb3	UTSW	1	193,021,722 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTCAAGGAGAGAGCACTCAC -3'
(R):5'- TTTCTCCCTAGGGTGAGCAG -3'

Sequencing Primer
(F):5'- GCCACCTGCTGAGAGATAG -3'
(R):5'- CAGCCCGTGCCTCTGTC -3'

Posted On

2014-09-18