Incidental Mutation 'R5052:Cercam'
| ID |
394680 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cercam
|
| Ensembl Gene |
ENSMUSG00000039787 |
| Gene Name |
cerebral endothelial cell adhesion molecule |
| Synonyms |
CerCAM, Ceecam1 |
| MMRRC Submission |
042642-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5052 (G1)
|
| Quality Score |
197 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
29759176-29772852 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 29765639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 260
(N260K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041622
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047521]
[ENSMUST00000134152]
[ENSMUST00000154464]
|
| AlphaFold |
A3KGW5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047521
AA Change: N260K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041622
Gene: ENSMUSG00000039787
AA Change: N260K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tranf_2_4
|
37 |
157 |
2.6e-15 |
PFAM |
|
Pfam:Glyco_transf_25
|
316 |
500 |
3.2e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134152
|
| SMART Domains |
Protein: ENSMUSP00000115902
Gene: ENSMUSG00000039787
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153863
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154464
|
| SMART Domains |
Protein: ENSMUSP00000119476
Gene: ENSMUSG00000039787
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
28 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155355
|
| Meta Mutation Damage Score |
0.8491 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.0%
- 10x: 94.8%
- 20x: 86.2%
|
| Validation Efficiency |
100% (58/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd3 |
A |
T |
3: 121,563,162 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,676,940 (GRCm39) |
T1964A |
probably damaging |
Het |
| Agbl5 |
C |
T |
5: 31,048,558 (GRCm39) |
T210I |
possibly damaging |
Het |
| Ak5 |
T |
C |
3: 152,366,204 (GRCm39) |
T66A |
probably benign |
Het |
| Aktip |
G |
A |
8: 91,856,279 (GRCm39) |
T66I |
possibly damaging |
Het |
| Aldh1l2 |
T |
C |
10: 83,344,556 (GRCm39) |
Y330C |
possibly damaging |
Het |
| Btbd19 |
T |
G |
4: 116,979,454 (GRCm39) |
K122Q |
possibly damaging |
Het |
| Cd180 |
A |
G |
13: 102,841,403 (GRCm39) |
T150A |
probably benign |
Het |
| Celsr2 |
A |
G |
3: 108,319,674 (GRCm39) |
I1046T |
probably damaging |
Het |
| Cep170 |
C |
T |
1: 176,621,117 (GRCm39) |
R20Q |
probably damaging |
Het |
| Cfh |
T |
A |
1: 140,071,782 (GRCm39) |
H284L |
probably damaging |
Het |
| Chmp5 |
A |
G |
4: 40,948,608 (GRCm39) |
M1V |
probably null |
Het |
| Elp3 |
A |
T |
14: 65,815,389 (GRCm39) |
I220N |
probably damaging |
Het |
| Esyt2 |
A |
G |
12: 116,331,416 (GRCm39) |
T765A |
probably damaging |
Het |
| Evi5l |
T |
C |
8: 4,256,019 (GRCm39) |
|
probably benign |
Het |
| Gm5866 |
T |
G |
5: 52,740,234 (GRCm39) |
|
noncoding transcript |
Het |
| Grik1 |
C |
A |
16: 87,746,986 (GRCm39) |
G417V |
probably benign |
Het |
| Gtpbp1 |
T |
G |
15: 79,600,170 (GRCm39) |
I399R |
probably damaging |
Het |
| Il17rc |
T |
C |
6: 113,449,284 (GRCm39) |
C14R |
probably damaging |
Het |
| Ipo9 |
T |
C |
1: 135,316,349 (GRCm39) |
|
probably null |
Het |
| Kazn |
G |
A |
4: 141,845,514 (GRCm39) |
|
probably benign |
Het |
| Map3k15 |
T |
C |
X: 158,771,742 (GRCm39) |
V105A |
possibly damaging |
Het |
| Mitf |
A |
G |
6: 97,987,406 (GRCm39) |
T320A |
possibly damaging |
Het |
| Ncapd3 |
T |
G |
9: 26,963,015 (GRCm39) |
L440R |
probably damaging |
Het |
| Nrxn2 |
C |
G |
19: 6,505,234 (GRCm39) |
A359G |
probably damaging |
Het |
| P2rx3 |
T |
G |
2: 84,829,368 (GRCm39) |
I371L |
probably benign |
Het |
| Pde1b |
C |
A |
15: 103,436,075 (GRCm39) |
Q493K |
possibly damaging |
Het |
| Ptpn13 |
T |
C |
5: 103,709,846 (GRCm39) |
F1503S |
probably damaging |
Het |
| Ptprz1 |
T |
G |
6: 23,045,625 (GRCm39) |
W1283G |
probably damaging |
Het |
| Rasd2 |
T |
A |
8: 75,948,564 (GRCm39) |
D163E |
possibly damaging |
Het |
| Rgs11 |
A |
G |
17: 26,426,947 (GRCm39) |
|
probably benign |
Het |
| Scap |
T |
C |
9: 110,182,220 (GRCm39) |
I37T |
possibly damaging |
Het |
| Sgms2 |
C |
T |
3: 131,124,005 (GRCm39) |
V232M |
probably benign |
Het |
| Slc25a54 |
A |
G |
3: 109,010,016 (GRCm39) |
I172V |
probably benign |
Het |
| Sympk |
C |
T |
7: 18,769,967 (GRCm39) |
R215C |
probably benign |
Het |
| Tacc2 |
T |
A |
7: 130,336,744 (GRCm39) |
D171E |
probably damaging |
Het |
| Tmco4 |
A |
G |
4: 138,785,817 (GRCm39) |
E629G |
probably benign |
Het |
| Trav7-1 |
T |
G |
14: 52,892,765 (GRCm39) |
L106R |
possibly damaging |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Utf1 |
T |
C |
7: 139,524,814 (GRCm39) |
|
probably benign |
Het |
| Zdhhc13 |
A |
G |
7: 48,474,479 (GRCm39) |
N577S |
possibly damaging |
Het |
| Zmym6 |
A |
G |
4: 127,017,767 (GRCm39) |
N1183D |
possibly damaging |
Het |
|
| Other mutations in Cercam |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01885:Cercam
|
APN |
2 |
29,771,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02619:Cercam
|
APN |
2 |
29,770,686 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03088:Cercam
|
APN |
2 |
29,771,699 (GRCm39) |
splice site |
probably benign |
|
|
I1329:Cercam
|
UTSW |
2 |
29,761,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0042:Cercam
|
UTSW |
2 |
29,771,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0086:Cercam
|
UTSW |
2 |
29,761,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0829:Cercam
|
UTSW |
2 |
29,761,079 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1442:Cercam
|
UTSW |
2 |
29,770,652 (GRCm39) |
missense |
probably benign |
|
|
R1558:Cercam
|
UTSW |
2 |
29,766,251 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1997:Cercam
|
UTSW |
2 |
29,762,935 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4678:Cercam
|
UTSW |
2 |
29,759,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4889:Cercam
|
UTSW |
2 |
29,771,845 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4891:Cercam
|
UTSW |
2 |
29,759,283 (GRCm39) |
unclassified |
probably benign |
|
|
R4967:Cercam
|
UTSW |
2 |
29,761,033 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5541:Cercam
|
UTSW |
2 |
29,765,641 (GRCm39) |
missense |
probably benign |
|
|
R5650:Cercam
|
UTSW |
2 |
29,771,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7072:Cercam
|
UTSW |
2 |
29,771,936 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7422:Cercam
|
UTSW |
2 |
29,762,892 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7585:Cercam
|
UTSW |
2 |
29,771,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7725:Cercam
|
UTSW |
2 |
29,762,574 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7730:Cercam
|
UTSW |
2 |
29,762,574 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7747:Cercam
|
UTSW |
2 |
29,761,298 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8504:Cercam
|
UTSW |
2 |
29,771,829 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9010:Cercam
|
UTSW |
2 |
29,766,071 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9185:Cercam
|
UTSW |
2 |
29,766,033 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
RF016:Cercam
|
UTSW |
2 |
29,759,317 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCCACCATGATGAGGTGC -3'
(R):5'- AAGGCTGGCATGCAAATATG -3'
Sequencing Primer
(F):5'- AAGTTCAGCCCAGTGCCCTAG -3'
(R):5'- GTGCTTCCAAAATGAGGTG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation