Incidental Mutation 'R8362:Alcam'
| ID |
646021 |
| 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 |
067808-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.292)
|
| Stock # |
R8362 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
52069359-52273444 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 52115387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 244
(Y244N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023312]
[ENSMUST00000164728]
[ENSMUST00000170035]
|
| AlphaFold |
Q61490 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023312
AA Change: Y244N
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000023312
Gene: ENSMUSG00000022636
AA Change: Y244N
| 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: Y244N
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127141
Gene: ENSMUSG00000022636
AA Change: Y244N
| 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 |
probably benign
Transcript: ENSMUST00000167115
AA Change: Y92N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000130563
Gene: ENSMUSG00000022636
AA Change: Y92N
| 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: Y244N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129714
Gene: ENSMUSG00000022636
AA Change: Y244N
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009A15Rik |
T |
A |
19: 8,867,395 (GRCm39) |
S65T |
probably damaging |
Het |
| Abcb1b |
A |
T |
5: 8,848,758 (GRCm39) |
N6I |
probably benign |
Het |
| Abr |
A |
T |
11: 76,369,954 (GRCm39) |
I145N |
probably benign |
Het |
| Amotl1 |
G |
A |
9: 14,556,218 (GRCm39) |
A36V |
probably benign |
Het |
| Ankrd11 |
A |
T |
8: 123,618,797 (GRCm39) |
L1685Q |
probably damaging |
Het |
| Ascc3 |
A |
C |
10: 50,518,692 (GRCm39) |
Q332H |
possibly damaging |
Het |
| Cdc42bpa |
C |
T |
1: 179,989,690 (GRCm39) |
L1720F |
probably damaging |
Het |
| Clec4b1 |
T |
C |
6: 123,027,602 (GRCm39) |
S20P |
probably benign |
Het |
| Cpt1a |
C |
T |
19: 3,420,744 (GRCm39) |
R401* |
probably null |
Het |
| Dnah12 |
T |
A |
14: 26,576,788 (GRCm39) |
Y3013N |
probably damaging |
Het |
| Dop1a |
G |
A |
9: 86,395,941 (GRCm39) |
R801H |
probably benign |
Het |
| Flywch1 |
G |
T |
17: 23,975,682 (GRCm39) |
T520N |
probably damaging |
Het |
| Fndc1 |
A |
G |
17: 8,001,207 (GRCm39) |
S190P |
unknown |
Het |
| Gabra1 |
G |
T |
11: 42,066,831 (GRCm39) |
Q28K |
probably benign |
Het |
| Gria2 |
T |
C |
3: 80,615,197 (GRCm39) |
M428V |
possibly damaging |
Het |
| H13 |
T |
A |
2: 152,528,311 (GRCm39) |
I220N |
unknown |
Het |
| Hars2 |
T |
A |
18: 36,923,228 (GRCm39) |
F412L |
probably benign |
Het |
| Hecw2 |
A |
T |
1: 54,079,650 (GRCm39) |
M1K |
probably null |
Het |
| Homer1 |
T |
A |
13: 93,502,797 (GRCm39) |
S192T |
unknown |
Het |
| Itga2b |
T |
A |
11: 102,352,189 (GRCm39) |
D464V |
probably damaging |
Het |
| Ivd |
T |
A |
2: 118,708,422 (GRCm39) |
C379S |
probably damaging |
Het |
| Khdc3 |
A |
T |
9: 73,010,848 (GRCm39) |
N233Y |
possibly damaging |
Het |
| Lrrc37 |
A |
G |
11: 103,506,163 (GRCm39) |
V1935A |
probably benign |
Het |
| Lrrfip1 |
T |
A |
1: 90,981,423 (GRCm39) |
L15Q |
probably damaging |
Het |
| Megf8 |
C |
A |
7: 25,039,943 (GRCm39) |
P986Q |
probably benign |
Het |
| Morc2b |
G |
T |
17: 33,357,295 (GRCm39) |
T159K |
possibly damaging |
Het |
| Nudt5 |
A |
G |
2: 5,858,322 (GRCm39) |
|
probably null |
Het |
| Or6c211 |
G |
T |
10: 129,506,100 (GRCm39) |
A96E |
possibly damaging |
Het |
| Paqr5 |
A |
T |
9: 61,879,945 (GRCm39) |
Y116* |
probably null |
Het |
| Pcnx1 |
A |
C |
12: 82,013,830 (GRCm39) |
S623R |
|
Het |
| Polr1a |
T |
C |
6: 71,941,651 (GRCm39) |
V1053A |
probably benign |
Het |
| Ptprt |
A |
T |
2: 161,393,667 (GRCm39) |
D1252E |
probably damaging |
Het |
| Qser1 |
A |
G |
2: 104,620,246 (GRCm39) |
S189P |
probably damaging |
Het |
| Rasal1 |
C |
T |
5: 120,813,485 (GRCm39) |
R620W |
probably damaging |
Het |
| Rbms1 |
C |
T |
2: 60,793,083 (GRCm39) |
M9I |
probably benign |
Het |
| Ska3 |
T |
C |
14: 58,054,105 (GRCm39) |
N282D |
probably benign |
Het |
| Slc25a24 |
T |
A |
3: 109,065,878 (GRCm39) |
I245N |
possibly damaging |
Het |
| Slc26a4 |
C |
T |
12: 31,594,506 (GRCm39) |
V281I |
probably benign |
Het |
| Smg8 |
A |
T |
11: 86,968,881 (GRCm39) |
Y958* |
probably null |
Het |
| Spata31 |
A |
G |
13: 65,070,044 (GRCm39) |
T731A |
possibly damaging |
Het |
| Spg11 |
G |
T |
2: 121,948,842 (GRCm39) |
A3D |
unknown |
Het |
| Srgap1 |
A |
G |
10: 121,691,383 (GRCm39) |
Y284H |
possibly damaging |
Het |
| Stt3b |
A |
G |
9: 115,083,988 (GRCm39) |
I396T |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,931,946 (GRCm39) |
T2160A |
probably damaging |
Het |
| Tprg1l |
G |
C |
4: 154,244,815 (GRCm39) |
T91S |
possibly damaging |
Het |
| Ush2a |
G |
A |
1: 188,689,650 (GRCm39) |
V5071I |
probably damaging |
Het |
| Vmn2r60 |
T |
A |
7: 41,844,954 (GRCm39) |
N772K |
probably damaging |
Het |
| Vmn2r81 |
T |
A |
10: 79,103,283 (GRCm39) |
W159R |
probably benign |
Het |
| Vmn2r93 |
G |
A |
17: 18,546,353 (GRCm39) |
V742I |
probably benign |
Het |
| Zc3h13 |
C |
A |
14: 75,561,909 (GRCm39) |
H654N |
unknown |
Het |
| Zfp516 |
T |
C |
18: 83,005,019 (GRCm39) |
L641P |
probably benign |
Het |
| Zfp623 |
T |
C |
15: 75,819,488 (GRCm39) |
V148A |
probably damaging |
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 |
|
R5202:Alcam
|
UTSW |
16 |
52,094,599 (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 |
|
|
R8996:Alcam
|
UTSW |
16 |
52,126,114 (GRCm39) |
missense |
probably benign |
0.30 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGGAAATGGAGTCTATTCTTAAGTC -3'
(R):5'- TACTTTCTTTAGAGGTGGCCATAC -3'
Sequencing Primer
(F):5'- GGAGTCTATTCTTAAGTCATGAGCAG -3'
(R):5'- GTATACCGTGACTTCCTCCT -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation