Incidental Mutation 'R0528:Lamc2'
| ID |
48967 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lamc2
|
| Ensembl Gene |
ENSMUSG00000026479 |
| Gene Name |
laminin, gamma 2 |
| Synonyms |
nicein, 100kDa |
| MMRRC Submission |
038720-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.460)
|
| Stock # |
R0528 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
152998502-153062193 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 152999840 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 1173
(L1173Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140514
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027753]
[ENSMUST00000043313]
[ENSMUST00000185356]
[ENSMUST00000186368]
[ENSMUST00000188206]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027753
AA Change: L1173Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027753
Gene: ENSMUSG00000026479
AA Change: L1173Q
| Domain | Start | End | E-Value | Type |
|---|
|
EGF_Lam
|
28 |
81 |
1.03e-7 |
SMART |
|
EGF_Lam
|
84 |
128 |
2.14e-14 |
SMART |
|
EGF_Lam
|
139 |
184 |
4.52e-13 |
SMART |
|
LamB
|
245 |
370 |
7.58e-46 |
SMART |
|
EGF_like
|
370 |
413 |
3.83e0 |
SMART |
|
Blast:EGF_like
|
417 |
460 |
8e-23 |
BLAST |
|
EGF_Lam
|
462 |
514 |
1.95e-8 |
SMART |
|
EGF_Lam
|
517 |
570 |
1.88e-10 |
SMART |
|
EGF_like
|
573 |
610 |
2.6e-1 |
SMART |
|
coiled coil region
|
612 |
680 |
N/A |
INTRINSIC |
|
low complexity region
|
792 |
817 |
N/A |
INTRINSIC |
|
coiled coil region
|
952 |
994 |
N/A |
INTRINSIC |
|
low complexity region
|
1016 |
1027 |
N/A |
INTRINSIC |
|
coiled coil region
|
1039 |
1072 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043313
|
| SMART Domains |
Protein: ENSMUSP00000041110
Gene: ENSMUSG00000042751
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTP_transf_like
|
12 |
276 |
2e-26 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000185356
AA Change: L1173Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140514
Gene: ENSMUSG00000026479
AA Change: L1173Q
| Domain | Start | End | E-Value | Type |
|---|
|
EGF_Lam
|
28 |
81 |
1.03e-7 |
SMART |
|
EGF_Lam
|
84 |
128 |
2.14e-14 |
SMART |
|
EGF_Lam
|
139 |
184 |
4.52e-13 |
SMART |
|
LamB
|
245 |
370 |
7.58e-46 |
SMART |
|
EGF_like
|
370 |
413 |
3.83e0 |
SMART |
|
Blast:EGF_like
|
417 |
460 |
8e-23 |
BLAST |
|
EGF_Lam
|
462 |
514 |
1.95e-8 |
SMART |
|
EGF_Lam
|
517 |
570 |
1.88e-10 |
SMART |
|
EGF_like
|
573 |
610 |
2.6e-1 |
SMART |
|
coiled coil region
|
612 |
680 |
N/A |
INTRINSIC |
|
low complexity region
|
792 |
817 |
N/A |
INTRINSIC |
|
coiled coil region
|
952 |
994 |
N/A |
INTRINSIC |
|
low complexity region
|
1016 |
1027 |
N/A |
INTRINSIC |
|
coiled coil region
|
1039 |
1072 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186368
|
| SMART Domains |
Protein: ENSMUSP00000140585
Gene: ENSMUSG00000042751
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTP_transf_2
|
12 |
275 |
2e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188206
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189005
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.9%
|
| Validation Efficiency |
96% (65/68) |
| 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 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in cell:cell adhesion involving epithelial cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
G |
10: 79,838,848 (GRCm39) |
W674G |
probably damaging |
Het |
| Abcc9 |
G |
A |
6: 142,638,606 (GRCm39) |
H103Y |
probably damaging |
Het |
| Ano7 |
A |
G |
1: 93,323,224 (GRCm39) |
N495S |
probably null |
Het |
| Aoc1l3 |
T |
A |
6: 48,964,965 (GRCm39) |
D324E |
probably benign |
Het |
| Ash1l |
A |
G |
3: 88,889,584 (GRCm39) |
N488D |
probably benign |
Het |
| Astn2 |
A |
G |
4: 65,563,119 (GRCm39) |
|
probably benign |
Het |
| Atraid |
T |
A |
5: 31,209,796 (GRCm39) |
|
probably benign |
Het |
| Baz2b |
T |
C |
2: 59,767,083 (GRCm39) |
R866G |
probably damaging |
Het |
| Cep164 |
T |
A |
9: 45,688,234 (GRCm39) |
|
probably benign |
Het |
| Clec4f |
G |
A |
6: 83,629,776 (GRCm39) |
Q261* |
probably null |
Het |
| Cpne4 |
A |
T |
9: 104,563,640 (GRCm39) |
N6Y |
probably damaging |
Het |
| Dhx38 |
G |
T |
8: 110,289,293 (GRCm39) |
Q36K |
probably benign |
Het |
| Dna2 |
C |
A |
10: 62,793,910 (GRCm39) |
Q341K |
probably benign |
Het |
| Dynap |
A |
G |
18: 70,375,165 (GRCm39) |
|
probably benign |
Het |
| Eif3l |
T |
C |
15: 78,973,809 (GRCm39) |
V408A |
probably benign |
Het |
| Foxi3 |
T |
A |
6: 70,934,122 (GRCm39) |
I203N |
probably damaging |
Het |
| Gcc2 |
T |
A |
10: 58,134,511 (GRCm39) |
L1495Q |
probably damaging |
Het |
| Gpr158 |
A |
G |
2: 21,830,019 (GRCm39) |
D688G |
probably damaging |
Het |
| Hcfc2 |
C |
A |
10: 82,575,079 (GRCm39) |
T246K |
probably damaging |
Het |
| Hdc |
C |
T |
2: 126,458,152 (GRCm39) |
E57K |
probably benign |
Het |
| Iqsec3 |
G |
C |
6: 121,389,743 (GRCm39) |
|
probably benign |
Het |
| Islr2 |
T |
A |
9: 58,106,645 (GRCm39) |
E205V |
probably damaging |
Het |
| Klf9 |
T |
C |
19: 23,119,498 (GRCm39) |
L127P |
probably benign |
Het |
| Lipe |
G |
A |
7: 25,097,901 (GRCm39) |
T14I |
possibly damaging |
Het |
| Lnpep |
A |
G |
17: 17,751,394 (GRCm39) |
|
probably benign |
Het |
| Lrrc15 |
A |
G |
16: 30,092,566 (GRCm39) |
S258P |
probably damaging |
Het |
| Macc1 |
A |
T |
12: 119,410,780 (GRCm39) |
Y516F |
probably benign |
Het |
| Megf6 |
A |
G |
4: 154,343,630 (GRCm39) |
T718A |
probably benign |
Het |
| Mtcl2 |
A |
G |
2: 156,862,612 (GRCm39) |
L1439P |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,111,445 (GRCm39) |
D1628G |
probably damaging |
Het |
| Naca |
C |
T |
10: 127,879,162 (GRCm39) |
T1398I |
probably benign |
Het |
| Or1f12 |
A |
G |
13: 21,721,416 (GRCm39) |
F238S |
possibly damaging |
Het |
| Or2a54 |
A |
T |
6: 43,093,150 (GRCm39) |
H158L |
possibly damaging |
Het |
| Padi4 |
A |
G |
4: 140,496,740 (GRCm39) |
V52A |
possibly damaging |
Het |
| Paqr5 |
G |
A |
9: 61,863,527 (GRCm39) |
T251I |
probably damaging |
Het |
| Pcm1 |
A |
G |
8: 41,768,967 (GRCm39) |
D1611G |
probably damaging |
Het |
| Prss12 |
G |
A |
3: 123,276,445 (GRCm39) |
R358K |
probably benign |
Het |
| Racgap1 |
A |
T |
15: 99,526,587 (GRCm39) |
H325Q |
probably damaging |
Het |
| Rbm12b1 |
A |
G |
4: 12,145,657 (GRCm39) |
H543R |
probably benign |
Het |
| Rc3h1 |
A |
T |
1: 160,795,228 (GRCm39) |
N1076I |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,415,088 (GRCm39) |
L2008P |
possibly damaging |
Het |
| Rsph3a |
A |
G |
17: 8,164,919 (GRCm39) |
H93R |
possibly damaging |
Het |
| Sbf1 |
C |
T |
15: 89,172,915 (GRCm39) |
R1840H |
probably damaging |
Het |
| Skic8 |
T |
A |
9: 54,630,219 (GRCm39) |
|
probably benign |
Het |
| Sytl2 |
T |
C |
7: 90,052,228 (GRCm39) |
|
probably benign |
Het |
| Tbc1d9 |
T |
C |
8: 83,937,085 (GRCm39) |
S56P |
probably damaging |
Het |
| Tiam2 |
A |
T |
17: 3,561,346 (GRCm39) |
M1304L |
probably damaging |
Het |
| Tmprss11b |
G |
T |
5: 86,819,753 (GRCm39) |
R9S |
probably damaging |
Het |
| Tnfrsf21 |
T |
A |
17: 43,348,505 (GRCm39) |
I39N |
probably benign |
Het |
| Tnrc6b |
T |
C |
15: 80,763,604 (GRCm39) |
S369P |
probably benign |
Het |
| Tpra1 |
T |
C |
6: 88,887,372 (GRCm39) |
V217A |
probably benign |
Het |
| Uckl1 |
G |
C |
2: 181,212,283 (GRCm39) |
|
probably benign |
Het |
| Vmn1r199 |
A |
T |
13: 22,566,736 (GRCm39) |
Q10L |
probably benign |
Het |
| Vmn2r76 |
A |
G |
7: 85,879,506 (GRCm39) |
S265P |
possibly damaging |
Het |
| Vwa5b1 |
A |
T |
4: 138,321,662 (GRCm39) |
L377Q |
probably damaging |
Het |
| Wrap73 |
A |
G |
4: 154,229,776 (GRCm39) |
D49G |
probably damaging |
Het |
| Zfp764 |
T |
A |
7: 127,004,051 (GRCm39) |
Q360L |
possibly damaging |
Het |
| Zfp846 |
G |
A |
9: 20,499,224 (GRCm39) |
|
probably benign |
Het |
| Zranb2 |
T |
C |
3: 157,240,096 (GRCm39) |
I14T |
probably benign |
Het |
|
| Other mutations in Lamc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00771:Lamc2
|
APN |
1 |
153,005,802 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00907:Lamc2
|
APN |
1 |
153,020,397 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02026:Lamc2
|
APN |
1 |
153,020,482 (GRCm39) |
splice site |
probably benign |
|
|
IGL02335:Lamc2
|
APN |
1 |
153,041,962 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02568:Lamc2
|
APN |
1 |
153,042,008 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02640:Lamc2
|
APN |
1 |
153,027,803 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02801:Lamc2
|
APN |
1 |
153,012,529 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02827:Lamc2
|
APN |
1 |
153,015,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03240:Lamc2
|
APN |
1 |
152,999,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03245:Lamc2
|
APN |
1 |
153,009,503 (GRCm39) |
splice site |
probably null |
|
|
abasement
|
UTSW |
1 |
153,002,771 (GRCm39) |
missense |
probably null |
0.86 |
|
ANU74:Lamc2
|
UTSW |
1 |
153,007,581 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0279:Lamc2
|
UTSW |
1 |
153,006,442 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0597:Lamc2
|
UTSW |
1 |
153,009,367 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0650:Lamc2
|
UTSW |
1 |
153,019,622 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0826:Lamc2
|
UTSW |
1 |
153,027,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1015:Lamc2
|
UTSW |
1 |
153,041,945 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1172:Lamc2
|
UTSW |
1 |
153,042,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1308:Lamc2
|
UTSW |
1 |
153,026,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1521:Lamc2
|
UTSW |
1 |
153,042,009 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1525:Lamc2
|
UTSW |
1 |
153,006,502 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1602:Lamc2
|
UTSW |
1 |
153,002,774 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1631:Lamc2
|
UTSW |
1 |
153,034,680 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1633:Lamc2
|
UTSW |
1 |
153,017,444 (GRCm39) |
nonsense |
probably null |
|
|
R1832:Lamc2
|
UTSW |
1 |
153,041,933 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1978:Lamc2
|
UTSW |
1 |
153,009,343 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1996:Lamc2
|
UTSW |
1 |
153,030,216 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2046:Lamc2
|
UTSW |
1 |
153,017,511 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2107:Lamc2
|
UTSW |
1 |
153,030,132 (GRCm39) |
splice site |
probably benign |
|
|
R2130:Lamc2
|
UTSW |
1 |
153,002,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2182:Lamc2
|
UTSW |
1 |
153,002,612 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2207:Lamc2
|
UTSW |
1 |
153,009,452 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2218:Lamc2
|
UTSW |
1 |
153,006,525 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3772:Lamc2
|
UTSW |
1 |
152,999,997 (GRCm39) |
missense |
probably benign |
|
|
R4616:Lamc2
|
UTSW |
1 |
153,041,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4874:Lamc2
|
UTSW |
1 |
153,030,141 (GRCm39) |
missense |
probably null |
1.00 |
|
R4939:Lamc2
|
UTSW |
1 |
153,002,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4985:Lamc2
|
UTSW |
1 |
153,012,551 (GRCm39) |
missense |
probably benign |
|
|
R5544:Lamc2
|
UTSW |
1 |
152,999,799 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5632:Lamc2
|
UTSW |
1 |
153,007,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5771:Lamc2
|
UTSW |
1 |
153,017,340 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5811:Lamc2
|
UTSW |
1 |
153,041,999 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6058:Lamc2
|
UTSW |
1 |
153,012,575 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6130:Lamc2
|
UTSW |
1 |
153,012,523 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6137:Lamc2
|
UTSW |
1 |
153,041,899 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6994:Lamc2
|
UTSW |
1 |
153,012,508 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6995:Lamc2
|
UTSW |
1 |
153,012,508 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6997:Lamc2
|
UTSW |
1 |
153,012,508 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7000:Lamc2
|
UTSW |
1 |
153,041,873 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7018:Lamc2
|
UTSW |
1 |
153,012,488 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7145:Lamc2
|
UTSW |
1 |
153,006,518 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7148:Lamc2
|
UTSW |
1 |
153,061,730 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7171:Lamc2
|
UTSW |
1 |
153,015,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7640:Lamc2
|
UTSW |
1 |
153,012,550 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7673:Lamc2
|
UTSW |
1 |
152,999,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7684:Lamc2
|
UTSW |
1 |
153,002,771 (GRCm39) |
missense |
probably null |
0.86 |
|
R7712:Lamc2
|
UTSW |
1 |
153,009,357 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7940:Lamc2
|
UTSW |
1 |
153,006,521 (GRCm39) |
nonsense |
probably null |
|
|
R8153:Lamc2
|
UTSW |
1 |
152,999,850 (GRCm39) |
frame shift |
probably null |
|
|
R8211:Lamc2
|
UTSW |
1 |
153,042,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8486:Lamc2
|
UTSW |
1 |
153,034,637 (GRCm39) |
missense |
probably benign |
|
|
R8739:Lamc2
|
UTSW |
1 |
153,020,399 (GRCm39) |
nonsense |
probably null |
|
|
R8744:Lamc2
|
UTSW |
1 |
153,019,484 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8911:Lamc2
|
UTSW |
1 |
153,027,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9435:Lamc2
|
UTSW |
1 |
153,013,072 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9457:Lamc2
|
UTSW |
1 |
153,015,600 (GRCm39) |
missense |
probably benign |
|
|
RF024:Lamc2
|
UTSW |
1 |
153,027,801 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
Z1176:Lamc2
|
UTSW |
1 |
153,009,367 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAGGGATGGAATTGGACCTGAAC -3'
(R):5'- CTAAAACAGACCAGCCTGGCAGTG -3'
Sequencing Primer
(F):5'- TGGAATTGGACCTGAACAAACC -3'
(R):5'- CCTGGCAGTGTGGATGAAG -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation