Incidental Mutation 'R6783:Bcam'
| ID |
531510 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bcam
|
| Ensembl Gene |
ENSMUSG00000002980 |
| Gene Name |
basal cell adhesion molecule |
| Synonyms |
B-CAM, 1200005K12Rik, Lu |
| MMRRC Submission |
044897-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6783 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
19490063-19504457 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 19500806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 123
(G123R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121145
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003061]
[ENSMUST00000133427]
[ENSMUST00000155244]
|
| AlphaFold |
Q9R069 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003061
AA Change: G123R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003061
Gene: ENSMUSG00000002980
AA Change: G123R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
IG
|
32 |
137 |
3.1e-9 |
SMART |
|
IG_like
|
174 |
254 |
1.89e1 |
SMART |
|
IGc2
|
275 |
337 |
2.58e-6 |
SMART |
|
IGc2
|
369 |
425 |
2.16e-8 |
SMART |
|
IG_like
|
458 |
523 |
7.29e-2 |
SMART |
|
transmembrane domain
|
541 |
563 |
N/A |
INTRINSIC |
|
low complexity region
|
601 |
619 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133427
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155244
AA Change: G123R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121145
Gene: ENSMUSG00000002980
AA Change: G123R
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
32 |
137 |
3.1e-9 |
SMART |
|
Pfam:C2-set_2
|
143 |
193 |
4.3e-12 |
PFAM |
|
Pfam:Ig_2
|
145 |
192 |
1e-2 |
PFAM |
|
| Meta Mutation Damage Score |
0.3922 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.8%
|
| Validation Efficiency |
95% (42/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes Lutheran blood group glycoprotein, a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five extracellular immunoglobulin domains, a single transmembrane domain, and a short C-terminal cytoplasmic tail. This protein may play a role in epithelial cell cancer and in vaso-occlusion of red blood cells in sickle cell disease. Polymorphisms in this gene define some of the antigens in the Lutheran system and also the Auberger system. Inactivating variants of this gene result in the recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood group. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: A gene trap insertion into an intron of this gene results in no obvious phenotype. Mice homozygous for a null allele exhibit glomeruli abnormalities and increased thickness and disorganization of intestinal smooth muscle. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam12 |
T |
A |
7: 133,576,126 (GRCm39) |
Q228L |
probably damaging |
Het |
| Arhgap45 |
A |
G |
10: 79,853,698 (GRCm39) |
T71A |
possibly damaging |
Het |
| Bag6 |
T |
A |
17: 35,363,211 (GRCm39) |
S684T |
possibly damaging |
Het |
| Cdcp3 |
T |
C |
7: 130,828,493 (GRCm39) |
L316P |
probably damaging |
Het |
| Cdr2l |
C |
T |
11: 115,284,495 (GRCm39) |
A277V |
possibly damaging |
Het |
| Clcn4 |
T |
A |
7: 7,302,181 (GRCm39) |
|
probably benign |
Het |
| Csnk1g1 |
T |
A |
9: 65,880,794 (GRCm39) |
I72N |
probably damaging |
Het |
| Cspg4b |
A |
T |
13: 113,456,743 (GRCm39) |
K930* |
probably null |
Het |
| Ddx31 |
G |
A |
2: 28,764,188 (GRCm39) |
V465I |
probably benign |
Het |
| Ddx54 |
C |
T |
5: 120,756,779 (GRCm39) |
Q163* |
probably null |
Het |
| Dnmt3a |
A |
G |
12: 3,947,406 (GRCm39) |
E459G |
probably damaging |
Het |
| Dpp8 |
T |
C |
9: 64,970,844 (GRCm39) |
S568P |
possibly damaging |
Het |
| Drap1 |
G |
T |
19: 5,474,219 (GRCm39) |
T47K |
probably damaging |
Het |
| Epha7 |
G |
T |
4: 28,950,528 (GRCm39) |
R777L |
possibly damaging |
Het |
| Far2 |
T |
G |
6: 148,052,273 (GRCm39) |
|
probably null |
Het |
| Fhdc1 |
T |
C |
3: 84,352,834 (GRCm39) |
K797R |
probably benign |
Het |
| Gm10330 |
A |
T |
12: 23,830,094 (GRCm39) |
M29K |
probably damaging |
Het |
| Grik3 |
A |
T |
4: 125,526,093 (GRCm39) |
I109F |
probably benign |
Het |
| Il31ra |
T |
C |
13: 112,688,522 (GRCm39) |
|
probably null |
Het |
| Itga1 |
T |
G |
13: 115,133,513 (GRCm39) |
I466L |
probably benign |
Het |
| Itpr2 |
A |
T |
6: 146,287,371 (GRCm39) |
|
probably null |
Het |
| Mical3 |
A |
C |
6: 120,935,786 (GRCm39) |
L1580R |
possibly damaging |
Het |
| Or14c43 |
T |
A |
7: 86,114,835 (GRCm39) |
V72D |
probably damaging |
Het |
| Or4n4 |
T |
C |
14: 50,519,644 (GRCm39) |
D22G |
probably benign |
Het |
| Palb2 |
T |
A |
7: 121,726,711 (GRCm39) |
E386D |
probably damaging |
Het |
| Pate8 |
T |
A |
9: 36,492,631 (GRCm39) |
|
probably null |
Het |
| Polm |
C |
A |
11: 5,785,534 (GRCm39) |
R175L |
probably damaging |
Het |
| Prpf40b |
C |
T |
15: 99,212,784 (GRCm39) |
R627W |
probably damaging |
Het |
| Ptcd3 |
A |
T |
6: 71,885,627 (GRCm39) |
V33D |
probably benign |
Het |
| Pwwp4c |
C |
T |
X: 73,684,021 (GRCm39) |
R355H |
probably damaging |
Homo |
| Ripk4 |
C |
A |
16: 97,549,237 (GRCm39) |
R273L |
probably damaging |
Het |
| Rpap2 |
A |
G |
5: 107,803,153 (GRCm39) |
T612A |
probably damaging |
Het |
| Serpinb10 |
A |
G |
1: 107,474,597 (GRCm39) |
N253S |
possibly damaging |
Het |
| Sgpp1 |
G |
C |
12: 75,782,243 (GRCm39) |
P32R |
probably benign |
Het |
| Sim1 |
T |
C |
10: 50,784,823 (GRCm39) |
I156T |
possibly damaging |
Het |
| Ski |
A |
T |
4: 155,245,289 (GRCm39) |
|
probably null |
Het |
| Spaca7b |
G |
A |
8: 11,705,661 (GRCm39) |
Q39* |
probably null |
Het |
| Tent2 |
G |
A |
13: 93,291,526 (GRCm39) |
A368V |
probably benign |
Het |
| Tent2 |
C |
G |
13: 93,291,527 (GRCm39) |
A372P |
probably benign |
Het |
| Trdn |
C |
T |
10: 33,314,811 (GRCm39) |
R512C |
probably damaging |
Het |
| Trim33 |
T |
C |
3: 103,259,403 (GRCm39) |
Y1031H |
probably damaging |
Het |
| Use1 |
T |
C |
8: 71,821,880 (GRCm39) |
L188P |
probably damaging |
Het |
| Usp34 |
G |
A |
11: 23,362,318 (GRCm39) |
G1588D |
probably damaging |
Het |
| Vmn2r33 |
C |
A |
7: 7,566,797 (GRCm39) |
R105L |
probably benign |
Het |
| Vmn2r53 |
G |
A |
7: 12,335,360 (GRCm39) |
S100F |
probably damaging |
Het |
|
| Other mutations in Bcam |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01065:Bcam
|
APN |
7 |
19,490,724 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01433:Bcam
|
APN |
7 |
19,494,107 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL01712:Bcam
|
APN |
7 |
19,492,692 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01943:Bcam
|
APN |
7 |
19,499,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01946:Bcam
|
APN |
7 |
19,494,042 (GRCm39) |
nonsense |
probably null |
|
|
IGL02281:Bcam
|
APN |
7 |
19,492,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02714:Bcam
|
APN |
7 |
19,492,732 (GRCm39) |
splice site |
probably benign |
|
|
IGL02837:Bcam
|
UTSW |
7 |
19,498,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4514001:Bcam
|
UTSW |
7 |
19,497,991 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0063:Bcam
|
UTSW |
7 |
19,500,773 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0063:Bcam
|
UTSW |
7 |
19,500,773 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1500:Bcam
|
UTSW |
7 |
19,492,889 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1575:Bcam
|
UTSW |
7 |
19,494,307 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1585:Bcam
|
UTSW |
7 |
19,494,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1768:Bcam
|
UTSW |
7 |
19,499,543 (GRCm39) |
missense |
probably null |
1.00 |
|
R1813:Bcam
|
UTSW |
7 |
19,500,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1896:Bcam
|
UTSW |
7 |
19,500,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2016:Bcam
|
UTSW |
7 |
19,494,274 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2117:Bcam
|
UTSW |
7 |
19,492,352 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R3713:Bcam
|
UTSW |
7 |
19,498,118 (GRCm39) |
missense |
probably benign |
0.12 |
|
R3917:Bcam
|
UTSW |
7 |
19,499,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4596:Bcam
|
UTSW |
7 |
19,498,082 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4866:Bcam
|
UTSW |
7 |
19,499,397 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4874:Bcam
|
UTSW |
7 |
19,503,247 (GRCm39) |
intron |
probably benign |
|
|
R5054:Bcam
|
UTSW |
7 |
19,490,785 (GRCm39) |
intron |
probably benign |
|
|
R5062:Bcam
|
UTSW |
7 |
19,494,026 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6853:Bcam
|
UTSW |
7 |
19,494,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7016:Bcam
|
UTSW |
7 |
19,492,368 (GRCm39) |
nonsense |
probably null |
|
|
R7174:Bcam
|
UTSW |
7 |
19,499,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7237:Bcam
|
UTSW |
7 |
19,503,232 (GRCm39) |
splice site |
probably null |
|
|
R7733:Bcam
|
UTSW |
7 |
19,494,313 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7938:Bcam
|
UTSW |
7 |
19,490,738 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8474:Bcam
|
UTSW |
7 |
19,494,325 (GRCm39) |
nonsense |
probably null |
|
|
R8514:Bcam
|
UTSW |
7 |
19,492,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8880:Bcam
|
UTSW |
7 |
19,492,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Bcam
|
UTSW |
7 |
19,494,032 (GRCm39) |
missense |
probably null |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACAGCGTCCCTTTGTTGG -3'
(R):5'- ATTAAAGGAGGTCTCACTGCCC -3'
Sequencing Primer
(F):5'- CCTTTGTTGGGAGACACCTC -3'
(R):5'- TGCCCAAGCTAAGACTGTTC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation