Incidental Mutation 'R2150:Mcam'
| ID |
234200 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcam
|
| Ensembl Gene |
ENSMUSG00000032135 |
| Gene Name |
melanoma cell adhesion molecule |
| Synonyms |
s-endo, 1-gicerin, s-gicerin, CD146, Muc18 |
| MMRRC Submission |
040153-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.589)
|
| Stock # |
R2150 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
44045946-44054024 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44047932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 59
(V59A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034650]
[ENSMUST00000098852]
[ENSMUST00000147836]
[ENSMUST00000149241]
[ENSMUST00000216002]
|
| AlphaFold |
Q8R2Y2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034650
AA Change: V62A
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000034650
Gene: ENSMUSG00000032135
AA Change: V62A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
IG
|
35 |
135 |
6.61e-4 |
SMART |
|
IG_like
|
155 |
213 |
4.22e-1 |
SMART |
|
IG
|
259 |
343 |
8.13e-4 |
SMART |
|
IGc2
|
358 |
416 |
3.4e-6 |
SMART |
|
IG_like
|
445 |
508 |
1.92e0 |
SMART |
|
low complexity region
|
511 |
525 |
N/A |
INTRINSIC |
|
transmembrane domain
|
562 |
584 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098852
AA Change: V62A
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000096451
Gene: ENSMUSG00000032135
AA Change: V62A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
IG
|
35 |
135 |
6.61e-4 |
SMART |
|
IG_like
|
155 |
213 |
4.22e-1 |
SMART |
|
IG
|
259 |
343 |
8.13e-4 |
SMART |
|
IGc2
|
358 |
416 |
3.4e-6 |
SMART |
|
IG_like
|
445 |
508 |
1.92e0 |
SMART |
|
low complexity region
|
511 |
525 |
N/A |
INTRINSIC |
|
transmembrane domain
|
562 |
584 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132490
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147836
AA Change: V31A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117924
Gene: ENSMUSG00000032135
AA Change: V31A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-set
|
2 |
97 |
2.4e-7 |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000149241
|
| SMART Domains |
Protein: ENSMUSP00000121090
Gene: ENSMUSG00000032135
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
76 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180670
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216002
AA Change: V59A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.5203 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
98% (59/60) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a conditional allele activated in endothelial cells exhibit impaired VEGF-induced angiogenesis in Matrigel. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402J07Rik |
C |
T |
8: 88,312,691 (GRCm39) |
Q159* |
probably null |
Het |
| Abca12 |
C |
A |
1: 71,302,647 (GRCm39) |
V2191L |
probably benign |
Het |
| Adam34 |
A |
G |
8: 44,105,538 (GRCm39) |
Y36H |
probably benign |
Het |
| Adprm |
A |
G |
11: 66,929,055 (GRCm39) |
V312A |
probably benign |
Het |
| Anapc2 |
T |
C |
2: 25,162,682 (GRCm39) |
L52P |
probably benign |
Het |
| Anxa2 |
TCCC |
TCC |
9: 69,397,036 (GRCm39) |
|
probably null |
Het |
| Apoc4 |
T |
A |
7: 19,412,560 (GRCm39) |
T62S |
probably damaging |
Het |
| Arfgef1 |
C |
T |
1: 10,270,103 (GRCm39) |
A349T |
probably benign |
Het |
| Arhgap32 |
A |
G |
9: 32,027,436 (GRCm39) |
E2G |
possibly damaging |
Het |
| Atg4c |
C |
A |
4: 99,109,463 (GRCm39) |
N143K |
possibly damaging |
Het |
| C1qtnf12 |
A |
G |
4: 156,050,922 (GRCm39) |
N297S |
probably benign |
Het |
| Cadps2 |
G |
T |
6: 23,838,998 (GRCm39) |
|
probably benign |
Het |
| Ccdc63 |
C |
G |
5: 122,265,628 (GRCm39) |
A71P |
possibly damaging |
Het |
| Cdca2 |
T |
C |
14: 67,952,258 (GRCm39) |
K38E |
probably damaging |
Het |
| Cyp2j11 |
G |
A |
4: 96,204,595 (GRCm39) |
T317I |
probably damaging |
Het |
| Dab2 |
T |
C |
15: 6,446,398 (GRCm39) |
V5A |
probably benign |
Het |
| Dennd3 |
A |
T |
15: 73,426,909 (GRCm39) |
H762L |
probably benign |
Het |
| Disp1 |
A |
G |
1: 182,869,936 (GRCm39) |
F828S |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,406,587 (GRCm39) |
M552V |
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,179,472 (GRCm39) |
|
probably null |
Het |
| Dsel |
A |
T |
1: 111,787,987 (GRCm39) |
N849K |
probably benign |
Het |
| Fah |
A |
T |
7: 84,244,042 (GRCm39) |
I239N |
probably damaging |
Het |
| Flt4 |
T |
C |
11: 49,536,824 (GRCm39) |
Y1265H |
probably benign |
Het |
| Ghdc |
T |
C |
11: 100,660,018 (GRCm39) |
E243G |
probably benign |
Het |
| Glb1 |
T |
C |
9: 114,279,716 (GRCm39) |
Y375H |
probably damaging |
Het |
| Gm6619 |
A |
G |
6: 131,466,021 (GRCm39) |
I40V |
probably benign |
Het |
| Gpld1 |
T |
C |
13: 25,146,630 (GRCm39) |
V225A |
probably benign |
Het |
| Hectd4 |
T |
C |
5: 121,391,921 (GRCm39) |
|
probably benign |
Het |
| Igdcc4 |
A |
G |
9: 65,032,617 (GRCm39) |
I542V |
possibly damaging |
Het |
| Igsf9b |
T |
C |
9: 27,245,633 (GRCm39) |
L1200P |
probably damaging |
Het |
| Itgb7 |
C |
T |
15: 102,130,553 (GRCm39) |
V378M |
probably damaging |
Het |
| Krt84 |
T |
C |
15: 101,438,019 (GRCm39) |
E312G |
possibly damaging |
Het |
| Man2a2 |
A |
G |
7: 80,017,532 (GRCm39) |
W250R |
probably damaging |
Het |
| Mfrp |
T |
C |
9: 44,015,015 (GRCm39) |
L314P |
probably benign |
Het |
| Mgat5 |
T |
C |
1: 127,396,987 (GRCm39) |
V578A |
probably damaging |
Het |
| Mycbp2 |
G |
A |
14: 103,393,358 (GRCm39) |
H3068Y |
probably damaging |
Het |
| Myh1 |
A |
C |
11: 67,113,234 (GRCm39) |
D1873A |
probably benign |
Het |
| Nek9 |
A |
G |
12: 85,376,677 (GRCm39) |
W235R |
probably damaging |
Het |
| Or9g19 |
T |
C |
2: 85,600,342 (GRCm39) |
S66P |
probably damaging |
Het |
| Parvb |
A |
G |
15: 84,116,369 (GRCm39) |
K33E |
possibly damaging |
Het |
| Pecr |
T |
C |
1: 72,316,517 (GRCm39) |
R63G |
possibly damaging |
Het |
| Pkhd1l1 |
T |
G |
15: 44,363,378 (GRCm39) |
|
probably null |
Het |
| Plekha5 |
T |
C |
6: 140,516,129 (GRCm39) |
V270A |
probably damaging |
Het |
| Prr14l |
T |
C |
5: 32,988,046 (GRCm39) |
D483G |
probably benign |
Het |
| Rimkla |
T |
A |
4: 119,331,779 (GRCm39) |
M140L |
possibly damaging |
Het |
| Senp1 |
C |
T |
15: 97,956,196 (GRCm39) |
V408I |
possibly damaging |
Het |
| Stambpl1 |
T |
A |
19: 34,204,104 (GRCm39) |
Y65N |
probably damaging |
Het |
| Tada2a |
T |
C |
11: 83,970,455 (GRCm39) |
D432G |
probably damaging |
Het |
| Themis |
T |
A |
10: 28,544,723 (GRCm39) |
I23N |
probably damaging |
Het |
| Thnsl1 |
T |
C |
2: 21,217,344 (GRCm39) |
I366T |
probably benign |
Het |
| Tmem131 |
C |
A |
1: 36,851,690 (GRCm39) |
V938L |
probably benign |
Het |
| Tmem178b |
A |
T |
6: 40,184,435 (GRCm39) |
Q111L |
probably damaging |
Het |
| Vmn1r195 |
C |
G |
13: 22,462,934 (GRCm39) |
L135V |
possibly damaging |
Het |
| Vmn2r-ps36 |
C |
T |
7: 7,431,539 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp956 |
G |
A |
6: 47,940,805 (GRCm39) |
R388H |
probably damaging |
Het |
| Zfr2 |
T |
G |
10: 81,077,950 (GRCm39) |
V259G |
probably benign |
Het |
|
| Other mutations in Mcam |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02408:Mcam
|
APN |
9 |
44,051,547 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02671:Mcam
|
APN |
9 |
44,048,331 (GRCm39) |
splice site |
probably benign |
|
|
IGL02682:Mcam
|
APN |
9 |
44,051,714 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL03384:Mcam
|
APN |
9 |
44,051,809 (GRCm39) |
unclassified |
probably benign |
|
|
R0238:Mcam
|
UTSW |
9 |
44,051,502 (GRCm39) |
splice site |
probably null |
|
|
R0238:Mcam
|
UTSW |
9 |
44,051,502 (GRCm39) |
splice site |
probably null |
|
|
R0320:Mcam
|
UTSW |
9 |
44,051,483 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1432:Mcam
|
UTSW |
9 |
44,052,588 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1485:Mcam
|
UTSW |
9 |
44,048,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1503:Mcam
|
UTSW |
9 |
44,052,588 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1730:Mcam
|
UTSW |
9 |
44,046,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1783:Mcam
|
UTSW |
9 |
44,046,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2146:Mcam
|
UTSW |
9 |
44,047,932 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2215:Mcam
|
UTSW |
9 |
44,051,250 (GRCm39) |
nonsense |
probably null |
|
|
R4366:Mcam
|
UTSW |
9 |
44,045,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4519:Mcam
|
UTSW |
9 |
44,052,640 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4948:Mcam
|
UTSW |
9 |
44,047,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5965:Mcam
|
UTSW |
9 |
44,047,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6704:Mcam
|
UTSW |
9 |
44,048,217 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6955:Mcam
|
UTSW |
9 |
44,050,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7273:Mcam
|
UTSW |
9 |
44,052,241 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7529:Mcam
|
UTSW |
9 |
44,050,192 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7623:Mcam
|
UTSW |
9 |
44,050,955 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7659:Mcam
|
UTSW |
9 |
44,048,067 (GRCm39) |
missense |
unknown |
|
|
R8066:Mcam
|
UTSW |
9 |
44,052,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9113:Mcam
|
UTSW |
9 |
44,051,693 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9184:Mcam
|
UTSW |
9 |
44,046,545 (GRCm39) |
intron |
probably benign |
|
|
R9278:Mcam
|
UTSW |
9 |
44,046,473 (GRCm39) |
intron |
probably benign |
|
|
Z1177:Mcam
|
UTSW |
9 |
44,045,887 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAAGTGGGACAGCTGCAG -3'
(R):5'- TAAGGCGGTGCTCATATTCACC -3'
Sequencing Primer
(F):5'- TGGGACAGCTGCAGTGAACC -3'
(R):5'- ATATTCACCAGGTTCCCGCTGG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation