Incidental Mutation 'R5202:Alcam'
| ID |
400941 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alcam
|
| Ensembl Gene |
ENSMUSG00000022636 |
| Gene Name |
activated leukocyte cell adhesion molecule |
| Synonyms |
MuSC, SC1, BEN, CD166, DM-GRASP |
| MMRRC Submission |
042777-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.259)
|
| Stock # |
R5202 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
52069359-52273444 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 52094599 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 384
(Y384C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129714
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023312]
[ENSMUST00000164728]
[ENSMUST00000170035]
|
| AlphaFold |
Q61490 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023312
AA Change: Y384C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000023312
Gene: ENSMUSG00000022636
AA Change: Y384C
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
26 |
131 |
8.46e-2 |
SMART |
|
Pfam:C2-set_2
|
137 |
231 |
5.1e-24 |
PFAM |
|
IG
|
255 |
330 |
6.35e-6 |
SMART |
|
IG
|
339 |
413 |
6.26e-5 |
SMART |
|
Pfam:Ig_3
|
415 |
489 |
3.8e-6 |
PFAM |
|
transmembrane domain
|
528 |
550 |
N/A |
INTRINSIC |
|
low complexity region
|
569 |
582 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164728
AA Change: Y384C
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000127141
Gene: ENSMUSG00000022636
AA Change: Y384C
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
26 |
131 |
8.46e-2 |
SMART |
|
Pfam:C2-set_2
|
137 |
231 |
1e-22 |
PFAM |
|
Pfam:Ig_2
|
147 |
235 |
3.8e-2 |
PFAM |
|
IG
|
255 |
330 |
6.35e-6 |
SMART |
|
IG
|
339 |
413 |
6.26e-5 |
SMART |
|
Pfam:Ig_3
|
415 |
496 |
1.9e-7 |
PFAM |
|
Pfam:Ig_2
|
415 |
502 |
1.5e-6 |
PFAM |
|
transmembrane domain
|
528 |
550 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164888
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000167115
AA Change: Y145C
|
| SMART Domains |
Protein: ENSMUSP00000130563
Gene: ENSMUSG00000022636
AA Change: Y145C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:C2-set_2
|
1 |
80 |
3.6e-21 |
PFAM |
|
IG
|
101 |
175 |
6.26e-5 |
SMART |
|
Pfam:Ig_3
|
177 |
251 |
1.7e-6 |
PFAM |
|
transmembrane domain
|
290 |
312 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
344 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170035
AA Change: Y384C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129714
Gene: ENSMUSG00000022636
AA Change: Y384C
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
26 |
131 |
8.46e-2 |
SMART |
|
Pfam:C2-set_2
|
137 |
231 |
3.4e-23 |
PFAM |
|
Pfam:Ig_2
|
147 |
235 |
1.3e-2 |
PFAM |
|
IG
|
255 |
330 |
6.35e-6 |
SMART |
|
IG
|
339 |
413 |
6.26e-5 |
SMART |
|
Pfam:Ig_3
|
415 |
491 |
5.9e-8 |
PFAM |
|
Pfam:Ig_2
|
415 |
502 |
4.9e-7 |
PFAM |
|
transmembrane domain
|
515 |
537 |
N/A |
INTRINSIC |
|
low complexity region
|
556 |
569 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes activated leukocyte cell adhesion molecule (ALCAM), also known as CD166 (cluster of differentiation 166), which is a member of a subfamily of immunoglobulin receptors with five immunoglobulin-like domains (VVC2C2C2) in the extracellular domain. This protein binds to T-cell differentiation antigene CD6, and is implicated in the processes of cell adhesion and migration. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous null mice display abnormal motor neuron and retinal ganglion cell morphology and retinal dysplasia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
T |
2: 68,562,308 (GRCm39) |
M312L |
probably benign |
Het |
| Adam7 |
C |
A |
14: 68,745,305 (GRCm39) |
D640Y |
possibly damaging |
Het |
| Apob |
A |
G |
12: 8,063,737 (GRCm39) |
E289G |
probably damaging |
Het |
| Arhgap15 |
A |
T |
2: 43,953,869 (GRCm39) |
R198S |
probably benign |
Het |
| Bbs2 |
G |
T |
8: 94,819,042 (GRCm39) |
S109* |
probably null |
Het |
| Bfsp1 |
T |
C |
2: 143,668,891 (GRCm39) |
S569G |
probably benign |
Het |
| Chst9 |
A |
T |
18: 15,586,296 (GRCm39) |
I89N |
probably benign |
Het |
| Cntln |
A |
C |
4: 84,889,466 (GRCm39) |
E316D |
probably benign |
Het |
| Csde1 |
T |
G |
3: 102,947,250 (GRCm39) |
D67E |
probably damaging |
Het |
| Csf2rb |
T |
G |
15: 78,233,257 (GRCm39) |
S855A |
possibly damaging |
Het |
| Cyp4a10 |
T |
A |
4: 115,389,812 (GRCm39) |
D472E |
probably damaging |
Het |
| Cyp4f18 |
C |
A |
8: 72,762,940 (GRCm39) |
R49L |
probably benign |
Het |
| Daam1 |
G |
T |
12: 71,991,048 (GRCm39) |
V221L |
unknown |
Het |
| Dbr1 |
T |
G |
9: 99,465,944 (GRCm39) |
D507E |
probably benign |
Het |
| Dhrs7c |
A |
G |
11: 67,706,627 (GRCm39) |
M188V |
probably benign |
Het |
| Dicer1 |
A |
T |
12: 104,660,990 (GRCm39) |
L1688* |
probably null |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| E2f3 |
G |
A |
13: 30,102,619 (GRCm39) |
T91I |
probably damaging |
Het |
| Etaa1 |
A |
T |
11: 17,897,853 (GRCm39) |
V157E |
probably damaging |
Het |
| Foxp2 |
A |
T |
6: 15,394,770 (GRCm39) |
T157S |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,458,767 (GRCm39) |
V2034A |
probably benign |
Het |
| Fzd10 |
T |
C |
5: 128,679,180 (GRCm39) |
V300A |
possibly damaging |
Het |
| Gbf1 |
A |
T |
19: 46,256,893 (GRCm39) |
M778L |
probably benign |
Het |
| Gm17472 |
T |
A |
6: 42,958,068 (GRCm39) |
N112K |
probably benign |
Het |
| Gria4 |
T |
C |
9: 4,424,330 (GRCm39) |
K845R |
probably benign |
Het |
| Hspa4l |
T |
A |
3: 40,736,001 (GRCm39) |
S541T |
probably benign |
Het |
| Igkv4-68 |
G |
A |
6: 69,281,926 (GRCm39) |
R82C |
probably damaging |
Het |
| Itgb1 |
A |
T |
8: 129,446,491 (GRCm39) |
I383F |
probably damaging |
Het |
| Kcnk12 |
T |
A |
17: 88,054,033 (GRCm39) |
K210* |
probably null |
Het |
| Limch1 |
C |
G |
5: 67,150,516 (GRCm39) |
D163E |
probably damaging |
Het |
| Mbd4 |
A |
T |
6: 115,826,363 (GRCm39) |
D188E |
probably damaging |
Het |
| Myh9 |
C |
T |
15: 77,665,310 (GRCm39) |
|
probably null |
Het |
| Nbeal2 |
T |
C |
9: 110,473,734 (GRCm39) |
E28G |
probably damaging |
Het |
| Nfatc4 |
A |
G |
14: 56,064,116 (GRCm39) |
E201G |
probably damaging |
Het |
| Nrap |
G |
A |
19: 56,323,583 (GRCm39) |
H1330Y |
probably damaging |
Het |
| Nudt14 |
A |
G |
12: 112,898,648 (GRCm39) |
S151P |
probably damaging |
Het |
| Or14c45 |
C |
A |
7: 86,176,324 (GRCm39) |
R120S |
probably damaging |
Het |
| Or2ag2 |
T |
A |
7: 106,485,803 (GRCm39) |
T74S |
possibly damaging |
Het |
| Or7e165 |
T |
A |
9: 19,694,514 (GRCm39) |
F28L |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Paqr9 |
A |
G |
9: 95,442,163 (GRCm39) |
D51G |
probably damaging |
Het |
| Pcgf5 |
T |
A |
19: 36,414,583 (GRCm39) |
F80I |
probably damaging |
Het |
| Pkhd1 |
T |
G |
1: 20,617,565 (GRCm39) |
S1007R |
probably benign |
Het |
| Rab30 |
T |
C |
7: 92,485,121 (GRCm39) |
Y196H |
probably benign |
Het |
| Setd2 |
A |
T |
9: 110,380,298 (GRCm39) |
D1371V |
probably damaging |
Het |
| Slc48a1 |
A |
T |
15: 97,688,581 (GRCm39) |
I140F |
possibly damaging |
Het |
| Sorl1 |
A |
G |
9: 41,944,879 (GRCm39) |
V882A |
probably benign |
Het |
| Sptbn2 |
G |
T |
19: 4,774,212 (GRCm39) |
G88W |
probably damaging |
Het |
| Tdrd12 |
A |
G |
7: 35,189,455 (GRCm39) |
V427A |
possibly damaging |
Het |
| Tekt2 |
T |
C |
4: 126,218,463 (GRCm39) |
D69G |
probably benign |
Het |
| Tie1 |
C |
T |
4: 118,337,707 (GRCm39) |
V463I |
probably benign |
Het |
| Tmem150c |
G |
T |
5: 100,227,813 (GRCm39) |
H217N |
probably damaging |
Het |
| Tnks2 |
G |
A |
19: 36,866,252 (GRCm39) |
G1080R |
probably damaging |
Het |
| Ttll4 |
G |
A |
1: 74,727,011 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Alcam |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00489:Alcam
|
APN |
16 |
52,115,380 (GRCm39) |
splice site |
probably benign |
|
|
IGL00737:Alcam
|
APN |
16 |
52,073,543 (GRCm39) |
missense |
unknown |
|
|
IGL01514:Alcam
|
APN |
16 |
52,094,653 (GRCm39) |
splice site |
probably benign |
|
|
IGL01837:Alcam
|
APN |
16 |
52,073,531 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02143:Alcam
|
APN |
16 |
52,125,982 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02231:Alcam
|
APN |
16 |
52,094,413 (GRCm39) |
splice site |
probably benign |
|
|
IGL02375:Alcam
|
APN |
16 |
52,109,299 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02579:Alcam
|
APN |
16 |
52,091,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02678:Alcam
|
APN |
16 |
52,094,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02798:Alcam
|
APN |
16 |
52,126,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02974:Alcam
|
APN |
16 |
52,116,079 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03335:Alcam
|
APN |
16 |
52,111,366 (GRCm39) |
nonsense |
probably null |
|
|
PIT4402001:Alcam
|
UTSW |
16 |
52,115,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4651001:Alcam
|
UTSW |
16 |
52,115,550 (GRCm39) |
missense |
probably benign |
|
|
R0282:Alcam
|
UTSW |
16 |
52,116,104 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0395:Alcam
|
UTSW |
16 |
52,130,227 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0760:Alcam
|
UTSW |
16 |
52,116,035 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0882:Alcam
|
UTSW |
16 |
52,073,573 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1433:Alcam
|
UTSW |
16 |
52,116,115 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1677:Alcam
|
UTSW |
16 |
52,091,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1751:Alcam
|
UTSW |
16 |
52,091,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1767:Alcam
|
UTSW |
16 |
52,091,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2440:Alcam
|
UTSW |
16 |
52,125,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2963:Alcam
|
UTSW |
16 |
52,115,404 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3410:Alcam
|
UTSW |
16 |
52,130,261 (GRCm39) |
missense |
probably null |
0.03 |
|
R4327:Alcam
|
UTSW |
16 |
52,073,579 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4328:Alcam
|
UTSW |
16 |
52,073,579 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4888:Alcam
|
UTSW |
16 |
52,089,176 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5088:Alcam
|
UTSW |
16 |
52,109,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5208:Alcam
|
UTSW |
16 |
52,115,411 (GRCm39) |
nonsense |
probably null |
|
|
R5278:Alcam
|
UTSW |
16 |
52,094,638 (GRCm39) |
missense |
probably benign |
|
|
R5799:Alcam
|
UTSW |
16 |
52,130,212 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5909:Alcam
|
UTSW |
16 |
52,111,356 (GRCm39) |
missense |
probably benign |
|
|
R5960:Alcam
|
UTSW |
16 |
52,115,489 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6194:Alcam
|
UTSW |
16 |
52,088,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6434:Alcam
|
UTSW |
16 |
52,109,190 (GRCm39) |
splice site |
probably null |
|
|
R6831:Alcam
|
UTSW |
16 |
52,130,264 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6868:Alcam
|
UTSW |
16 |
52,088,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6930:Alcam
|
UTSW |
16 |
52,126,018 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6957:Alcam
|
UTSW |
16 |
52,097,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7109:Alcam
|
UTSW |
16 |
52,097,192 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7473:Alcam
|
UTSW |
16 |
52,272,882 (GRCm39) |
unclassified |
probably benign |
|
|
R7562:Alcam
|
UTSW |
16 |
52,089,186 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7568:Alcam
|
UTSW |
16 |
52,088,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7631:Alcam
|
UTSW |
16 |
52,109,276 (GRCm39) |
splice site |
probably null |
|
|
R8362:Alcam
|
UTSW |
16 |
52,115,387 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8996:Alcam
|
UTSW |
16 |
52,126,114 (GRCm39) |
missense |
probably benign |
0.30 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTGGCAGATTATAGTTTTAGACAG -3'
(R):5'- TAGGCGCATGTACCACACAC -3'
Sequencing Primer
(F):5'- GCAGATTATAGTTTTAGACAGTCCAC -3'
(R):5'- TAGGCGCATGTACCACACACATATAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation