Incidental Mutation 'R6533:Ceacam2'
ID |
520187 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ceacam2
|
Ensembl Gene |
ENSMUSG00000054385 |
Gene Name |
CEA cell adhesion molecule 2 |
Synonyms |
Bgp2 |
MMRRC Submission |
044659-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R6533 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
25215467-25239282 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 25230136 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 157
(V157L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048118
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044547]
[ENSMUST00000064862]
[ENSMUST00000066503]
|
AlphaFold |
Q925P2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044547
AA Change: V157L
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000048118 Gene: ENSMUSG00000054385 AA Change: V157L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
IG
|
40 |
143 |
4.15e0 |
SMART |
IGc2
|
158 |
224 |
1.99e-7 |
SMART |
IGc2
|
252 |
308 |
5.04e-9 |
SMART |
IGc2
|
337 |
401 |
3.28e-8 |
SMART |
transmembrane domain
|
422 |
444 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000064862
|
SMART Domains |
Protein: ENSMUSP00000068540 Gene: ENSMUSG00000054385
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
27 |
N/A |
INTRINSIC |
IG_like
|
40 |
143 |
6.69e0 |
SMART |
IGc2
|
157 |
221 |
3.28e-8 |
SMART |
transmembrane domain
|
244 |
266 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000066503
|
SMART Domains |
Protein: ENSMUSP00000064255 Gene: ENSMUSG00000054385
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
27 |
N/A |
INTRINSIC |
IG_like
|
40 |
143 |
6.69e0 |
SMART |
IGc2
|
157 |
221 |
3.28e-8 |
SMART |
transmembrane domain
|
242 |
264 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145681
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206300
|
Meta Mutation Damage Score |
0.1477 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
Validation Efficiency |
100% (44/44) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit female-specific obesity, disruption in glucose homeostasis, hyperphagia, hyperinsulinemia and decreased energy expenditure. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010B08Rik |
C |
T |
2: 173,561,628 (GRCm39) |
|
probably benign |
Het |
4932414N04Rik |
G |
T |
2: 68,546,662 (GRCm39) |
E115* |
probably null |
Het |
Abhd16a |
G |
A |
17: 35,317,785 (GRCm39) |
|
probably null |
Het |
Ankrd28 |
T |
A |
14: 31,454,041 (GRCm39) |
I244L |
possibly damaging |
Het |
Barx2 |
T |
C |
9: 31,824,275 (GRCm39) |
Y38C |
probably damaging |
Het |
Btn2a2 |
C |
A |
13: 23,665,951 (GRCm39) |
E294* |
probably null |
Het |
Ces2c |
T |
A |
8: 105,578,725 (GRCm39) |
F334L |
possibly damaging |
Het |
Col7a1 |
T |
C |
9: 108,790,426 (GRCm39) |
I958T |
unknown |
Het |
Dcp2 |
T |
A |
18: 44,532,731 (GRCm39) |
D82E |
probably benign |
Het |
Dnah8 |
T |
C |
17: 30,965,964 (GRCm39) |
L2432S |
probably damaging |
Het |
Dst |
A |
G |
1: 34,342,590 (GRCm39) |
D7582G |
probably benign |
Het |
Fat3 |
T |
A |
9: 15,910,195 (GRCm39) |
I1936L |
probably benign |
Het |
Gsdmc4 |
T |
A |
15: 63,763,909 (GRCm39) |
N396I |
probably damaging |
Het |
Lonrf2 |
A |
C |
1: 38,852,349 (GRCm39) |
D167E |
probably benign |
Het |
Marf1 |
T |
C |
16: 13,933,663 (GRCm39) |
D1575G |
probably benign |
Het |
Med23 |
T |
C |
10: 24,769,518 (GRCm39) |
L101P |
probably damaging |
Het |
Myh3 |
A |
G |
11: 66,981,245 (GRCm39) |
I703V |
probably damaging |
Het |
Ncan |
G |
A |
8: 70,549,007 (GRCm39) |
A1257V |
probably benign |
Het |
Nipal4 |
A |
T |
11: 46,041,234 (GRCm39) |
Y320* |
probably null |
Het |
Obox5 |
A |
T |
7: 15,491,532 (GRCm39) |
Q24L |
probably benign |
Het |
Orc1 |
T |
C |
4: 108,454,644 (GRCm39) |
S345P |
probably benign |
Het |
P4hb |
A |
T |
11: 120,462,469 (GRCm39) |
I79N |
probably damaging |
Het |
Phf3 |
A |
T |
1: 30,845,399 (GRCm39) |
I1262N |
probably damaging |
Het |
Pigo |
A |
T |
4: 43,022,697 (GRCm39) |
N291K |
probably benign |
Het |
Ppargc1b |
C |
T |
18: 61,440,845 (GRCm39) |
R691H |
possibly damaging |
Het |
Ppm1m |
T |
C |
9: 106,074,069 (GRCm39) |
|
probably benign |
Het |
Ptprd |
A |
T |
4: 76,046,765 (GRCm39) |
D500E |
probably damaging |
Het |
Rab3gap2 |
T |
A |
1: 184,965,151 (GRCm39) |
|
probably null |
Het |
Rnf214 |
A |
G |
9: 45,811,361 (GRCm39) |
S101P |
probably benign |
Het |
Sdhc |
A |
G |
1: 170,957,396 (GRCm39) |
S162P |
possibly damaging |
Het |
Spta1 |
C |
T |
1: 174,071,713 (GRCm39) |
T2231I |
probably damaging |
Het |
Stxbp2 |
T |
A |
8: 3,692,683 (GRCm39) |
D578E |
probably benign |
Het |
Tacc2 |
A |
T |
7: 130,224,567 (GRCm39) |
E417D |
possibly damaging |
Het |
Tas2r144 |
A |
T |
6: 42,192,280 (GRCm39) |
N7Y |
probably benign |
Het |
Tasp1 |
A |
G |
2: 139,676,277 (GRCm39) |
*421R |
probably null |
Het |
Tigd5 |
A |
G |
15: 75,782,039 (GRCm39) |
I134V |
possibly damaging |
Het |
Tmem95 |
A |
T |
11: 69,768,843 (GRCm39) |
M1K |
probably null |
Het |
Trappc10 |
T |
C |
10: 78,024,728 (GRCm39) |
M1134V |
probably damaging |
Het |
Unc45a |
T |
G |
7: 79,983,817 (GRCm39) |
K326N |
probably damaging |
Het |
Vmn1r59 |
A |
G |
7: 5,457,463 (GRCm39) |
V99A |
probably benign |
Het |
Vmn2r4 |
T |
C |
3: 64,322,519 (GRCm39) |
T67A |
probably benign |
Het |
Vmn2r85 |
A |
T |
10: 130,262,529 (GRCm39) |
M70K |
probably benign |
Het |
Zftraf1 |
C |
A |
15: 76,531,930 (GRCm39) |
E283* |
probably null |
Het |
Zkscan8 |
A |
G |
13: 21,704,748 (GRCm39) |
F325S |
probably damaging |
Het |
|
Other mutations in Ceacam2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00788:Ceacam2
|
APN |
7 |
25,237,998 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01606:Ceacam2
|
APN |
7 |
25,230,132 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02106:Ceacam2
|
APN |
7 |
25,230,166 (GRCm39) |
missense |
probably benign |
|
IGL02506:Ceacam2
|
APN |
7 |
25,227,379 (GRCm39) |
missense |
probably benign |
0.34 |
IGL02820:Ceacam2
|
APN |
7 |
25,219,411 (GRCm39) |
missense |
probably damaging |
1.00 |
R0514:Ceacam2
|
UTSW |
7 |
25,220,356 (GRCm39) |
missense |
probably benign |
0.43 |
R2146:Ceacam2
|
UTSW |
7 |
25,227,368 (GRCm39) |
nonsense |
probably null |
|
R3854:Ceacam2
|
UTSW |
7 |
25,238,227 (GRCm39) |
missense |
probably benign |
0.06 |
R4887:Ceacam2
|
UTSW |
7 |
25,220,257 (GRCm39) |
missense |
probably benign |
0.00 |
R6480:Ceacam2
|
UTSW |
7 |
25,219,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R6709:Ceacam2
|
UTSW |
7 |
25,229,262 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6711:Ceacam2
|
UTSW |
7 |
25,238,295 (GRCm39) |
missense |
probably benign |
|
R6853:Ceacam2
|
UTSW |
7 |
25,217,561 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7177:Ceacam2
|
UTSW |
7 |
25,220,341 (GRCm39) |
missense |
probably benign |
0.11 |
R7548:Ceacam2
|
UTSW |
7 |
25,229,958 (GRCm39) |
missense |
probably benign |
0.00 |
R7567:Ceacam2
|
UTSW |
7 |
25,227,333 (GRCm39) |
missense |
probably benign |
0.12 |
R7709:Ceacam2
|
UTSW |
7 |
25,238,076 (GRCm39) |
missense |
probably damaging |
0.97 |
R8378:Ceacam2
|
UTSW |
7 |
25,217,597 (GRCm39) |
missense |
probably damaging |
0.99 |
R8527:Ceacam2
|
UTSW |
7 |
25,238,155 (GRCm39) |
missense |
probably benign |
0.03 |
R8878:Ceacam2
|
UTSW |
7 |
25,227,351 (GRCm39) |
missense |
probably benign |
0.06 |
R9186:Ceacam2
|
UTSW |
7 |
25,227,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R9321:Ceacam2
|
UTSW |
7 |
25,230,089 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAGGCTGAATGGGTCACTTC -3'
(R):5'- AACCAGTCAGTGAGCACCAG -3'
Sequencing Primer
(F):5'- GGTTTCACACACATAGGGTCCTG -3'
(R):5'- CCAGTCAGTGAGCACCAGGATATAAG -3'
|
Posted On |
2018-06-06 |