Incidental Mutation 'R5286:Lamc3'
| ID |
424338 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lamc3
|
| Ensembl Gene |
ENSMUSG00000026840 |
| Gene Name |
laminin gamma 3 |
| Synonyms |
|
| MMRRC Submission |
042870-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5286 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
31777303-31836551 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31808608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 788
(H788R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118745
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028187]
[ENSMUST00000138325]
|
| AlphaFold |
Q9R0B6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028187
AA Change: H788R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028187
Gene: ENSMUSG00000026840
AA Change: H788R
| 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 damaging
Transcript: ENSMUST00000138325
AA Change: H788R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118745
Gene: ENSMUSG00000026840
AA Change: H788R
| 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 |
0.1173 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (64/64) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad12 |
T |
C |
5: 121,742,358 (GRCm39) |
I417V |
probably benign |
Het |
| Adad1 |
T |
C |
3: 37,119,399 (GRCm39) |
V160A |
possibly damaging |
Het |
| Adcy7 |
A |
G |
8: 89,051,487 (GRCm39) |
E869G |
probably damaging |
Het |
| Birc6 |
G |
A |
17: 74,977,242 (GRCm39) |
A4352T |
probably damaging |
Het |
| Brd2 |
T |
A |
17: 34,334,205 (GRCm39) |
T286S |
probably damaging |
Het |
| Bsn |
G |
T |
9: 107,988,123 (GRCm39) |
|
probably benign |
Het |
| Cables1 |
A |
G |
18: 12,057,884 (GRCm39) |
T335A |
probably benign |
Het |
| Cacna1d |
A |
T |
14: 30,072,682 (GRCm39) |
S98T |
possibly damaging |
Het |
| Ccdc181 |
A |
G |
1: 164,105,810 (GRCm39) |
Y15C |
probably damaging |
Het |
| Dlgap4 |
T |
G |
2: 156,587,839 (GRCm39) |
V39G |
probably damaging |
Het |
| Epb41l3 |
G |
A |
17: 69,569,268 (GRCm39) |
R504H |
probably benign |
Het |
| Fbxo7 |
T |
C |
10: 85,857,954 (GRCm39) |
L23P |
probably damaging |
Het |
| Gm42791 |
A |
C |
5: 148,887,178 (GRCm39) |
|
probably benign |
Het |
| Gprc5b |
A |
T |
7: 118,582,910 (GRCm39) |
F320I |
possibly damaging |
Het |
| Gtf3c1 |
G |
A |
7: 125,262,580 (GRCm39) |
T1093M |
possibly damaging |
Het |
| Hddc3 |
G |
T |
7: 79,993,543 (GRCm39) |
R83L |
probably damaging |
Het |
| Iars2 |
T |
C |
1: 185,055,318 (GRCm39) |
|
probably benign |
Het |
| Ift25 |
T |
A |
4: 107,136,998 (GRCm39) |
I132N |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,895,599 (GRCm39) |
K1656E |
probably benign |
Het |
| Itk |
A |
C |
11: 46,228,926 (GRCm39) |
|
probably null |
Het |
| Klra6 |
G |
A |
6: 129,995,932 (GRCm39) |
T142I |
probably benign |
Het |
| Knop1 |
C |
T |
7: 118,454,993 (GRCm39) |
A3T |
probably damaging |
Het |
| Lrif1 |
A |
G |
3: 106,639,859 (GRCm39) |
R315G |
probably damaging |
Het |
| Mfap3l |
A |
G |
8: 61,109,903 (GRCm39) |
D93G |
probably benign |
Het |
| Ngef |
T |
C |
1: 87,473,552 (GRCm39) |
S77G |
probably benign |
Het |
| Nt5dc3 |
T |
C |
10: 86,640,656 (GRCm39) |
S13P |
probably benign |
Het |
| Or9s13 |
T |
C |
1: 92,548,084 (GRCm39) |
V152A |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,729,761 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
C |
T |
15: 44,378,368 (GRCm39) |
Q1041* |
probably null |
Het |
| Ppl |
G |
A |
16: 4,906,987 (GRCm39) |
R1103* |
probably null |
Het |
| Ppp4r3b |
T |
A |
11: 29,161,667 (GRCm39) |
D680E |
probably benign |
Het |
| Rasgrf2 |
T |
G |
13: 92,267,941 (GRCm39) |
K21T |
possibly damaging |
Het |
| Rev1 |
T |
A |
1: 38,094,407 (GRCm39) |
K1004* |
probably null |
Het |
| Rgs9 |
T |
G |
11: 109,130,277 (GRCm39) |
|
probably null |
Het |
| Rnf31 |
T |
C |
14: 55,829,693 (GRCm39) |
L86P |
probably damaging |
Het |
| Rps13 |
A |
G |
7: 115,933,155 (GRCm39) |
Y18H |
probably damaging |
Het |
| Rxfp2 |
T |
C |
5: 149,958,909 (GRCm39) |
F33S |
probably damaging |
Het |
| Sfmbt1 |
G |
A |
14: 30,538,777 (GRCm39) |
V799M |
probably damaging |
Het |
| Stard9 |
T |
A |
2: 120,532,428 (GRCm39) |
V2895D |
probably benign |
Het |
| Syn3 |
T |
C |
10: 86,187,428 (GRCm39) |
N232S |
possibly damaging |
Het |
| Taok3 |
T |
A |
5: 117,404,140 (GRCm39) |
Y772N |
probably damaging |
Het |
| Tspan4 |
A |
G |
7: 141,062,483 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
A |
2: 76,684,530 (GRCm39) |
|
probably benign |
Het |
| Vwa3b |
T |
A |
1: 37,084,120 (GRCm39) |
W98R |
probably damaging |
Het |
| Vwa5b2 |
A |
T |
16: 20,415,058 (GRCm39) |
D360V |
probably damaging |
Het |
| Wdr73 |
A |
T |
7: 80,541,557 (GRCm39) |
D328E |
probably benign |
Het |
| Xpo5 |
A |
G |
17: 46,545,406 (GRCm39) |
N824S |
probably benign |
Het |
| Zbtb2 |
C |
T |
10: 4,318,566 (GRCm39) |
G487S |
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 |
|
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 |
|
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'- GATAGTGAACAAGTGCCTTGCTC -3'
(R):5'- CCAGGTCTGCAGTAACTCTC -3'
Sequencing Primer
(F):5'- GAACAAGTGCCTTGCTCCTTAGG -3'
(R):5'- TGCAGTAACTCTCAGCATACTGG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation