Incidental Mutation 'R2333:Celsr2'
ID |
246496 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Celsr2
|
Ensembl Gene |
ENSMUSG00000068740 |
Gene Name |
cadherin, EGF LAG seven-pass G-type receptor 2 |
Synonyms |
mfmi1, EGFL2, flamingo |
Accession Numbers |
Genbank: NM_017392.3, NM_001004177.2 ; Ensembl: ENSMUST00000090558
|
Is this an essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2333 (G1)
|
Quality Score |
210 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
108390851-108415552 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 108398605 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 2061
(N2061S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088046
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090558]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000090558
AA Change: N2061S
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000088046 Gene: ENSMUSG00000068740 AA Change: N2061S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
low complexity region
|
35 |
53 |
N/A |
INTRINSIC |
CA
|
203 |
287 |
1.36e-26 |
SMART |
CA
|
311 |
397 |
1.33e-29 |
SMART |
CA
|
421 |
503 |
2.59e-27 |
SMART |
CA
|
527 |
608 |
3.33e-30 |
SMART |
CA
|
632 |
710 |
5.18e-18 |
SMART |
CA
|
734 |
813 |
1.08e-29 |
SMART |
CA
|
837 |
919 |
8.08e-29 |
SMART |
low complexity region
|
920 |
932 |
N/A |
INTRINSIC |
CA
|
943 |
1021 |
4.3e-24 |
SMART |
CA
|
1049 |
1125 |
1.87e-1 |
SMART |
low complexity region
|
1188 |
1198 |
N/A |
INTRINSIC |
EGF
|
1231 |
1286 |
1.81e-3 |
SMART |
EGF_CA
|
1288 |
1324 |
2.24e-8 |
SMART |
EGF
|
1331 |
1366 |
6.65e-2 |
SMART |
LamG
|
1387 |
1554 |
8.4e-30 |
SMART |
EGF
|
1577 |
1610 |
8e-5 |
SMART |
LamG
|
1636 |
1770 |
1.56e-24 |
SMART |
EGF
|
1796 |
1829 |
2.35e-2 |
SMART |
EGF
|
1831 |
1867 |
3.88e-3 |
SMART |
TNFR
|
1908 |
1943 |
1.35e-1 |
SMART |
EGF_Lam
|
1924 |
1969 |
9.54e-12 |
SMART |
HormR
|
1972 |
2034 |
1.57e-20 |
SMART |
Pfam:GAIN
|
2046 |
2289 |
3e-62 |
PFAM |
GPS
|
2315 |
2368 |
1.86e-25 |
SMART |
Pfam:7tm_2
|
2373 |
2605 |
1.1e-48 |
PFAM |
low complexity region
|
2715 |
2733 |
N/A |
INTRINSIC |
low complexity region
|
2857 |
2873 |
N/A |
INTRINSIC |
low complexity region
|
2874 |
2881 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126349
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130941
|
Predicted Effect |
unknown
Transcript: ENSMUST00000147251
AA Change: N49S
|
SMART Domains |
Protein: ENSMUSP00000122329 Gene: ENSMUSG00000068740 AA Change: N49S
Domain | Start | End | E-Value | Type |
Pfam:GAIN
|
35 |
278 |
5.1e-63 |
PFAM |
GPS
|
304 |
357 |
1.86e-25 |
SMART |
Pfam:7tm_2
|
362 |
594 |
2e-49 |
PFAM |
low complexity region
|
704 |
722 |
N/A |
INTRINSIC |
low complexity region
|
846 |
862 |
N/A |
INTRINSIC |
low complexity region
|
863 |
870 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147565
|
SMART Domains |
Protein: ENSMUSP00000122516 Gene: ENSMUSG00000068740
Domain | Start | End | E-Value | Type |
EGF
|
13 |
46 |
8e-5 |
SMART |
LamG
|
72 |
206 |
1.56e-24 |
SMART |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. The specific function of this particular member has not been determined. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for disruptions in this allele have mild to moderately dilated lateral ventricles in the brain but are otherwise normal. [provided by MGI curators]
|
Allele List at MGI |
All alleles(4) : Targeted, knock-out(1) Targeted, other(3)
|
Other mutations in this stock |
Total: 14 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810474O19Rik |
T |
A |
6: 149,327,511 |
I685K |
probably damaging |
Het |
Bag4 |
C |
T |
8: 25,769,488 |
A228T |
probably benign |
Het |
Brd4 |
C |
T |
17: 32,221,457 |
D302N |
probably damaging |
Het |
Col1a2 |
A |
T |
6: 4,532,747 |
M791L |
unknown |
Het |
Dmxl1 |
A |
G |
18: 49,919,976 |
|
probably null |
Het |
Grm1 |
A |
G |
10: 10,719,346 |
V846A |
probably damaging |
Het |
Grm1 |
G |
A |
10: 10,719,619 |
A755V |
probably benign |
Het |
Ikbkap |
A |
G |
4: 56,775,456 |
V701A |
probably benign |
Het |
Ltbp4 |
C |
T |
7: 27,327,778 |
R389Q |
possibly damaging |
Het |
Naip5 |
A |
G |
13: 100,223,171 |
I519T |
probably damaging |
Het |
Tmem100 |
A |
G |
11: 90,035,598 |
I84V |
probably benign |
Het |
Tnik |
C |
T |
3: 28,532,996 |
R139W |
probably damaging |
Het |
Vmn1r203 |
A |
G |
13: 22,524,943 |
D298G |
probably damaging |
Het |
Zfp324 |
A |
G |
7: 12,971,245 |
T454A |
possibly damaging |
Het |
|
Other mutations in Celsr2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00898:Celsr2
|
APN |
3 |
108413879 |
missense |
possibly damaging |
0.49 |
IGL01020:Celsr2
|
APN |
3 |
108403270 |
missense |
probably damaging |
0.99 |
IGL01420:Celsr2
|
APN |
3 |
108393763 |
missense |
probably benign |
0.13 |
IGL01448:Celsr2
|
APN |
3 |
108393239 |
missense |
probably damaging |
0.99 |
IGL01559:Celsr2
|
APN |
3 |
108406867 |
missense |
possibly damaging |
0.75 |
IGL01674:Celsr2
|
APN |
3 |
108414843 |
missense |
probably damaging |
1.00 |
IGL01863:Celsr2
|
APN |
3 |
108394022 |
missense |
probably benign |
0.00 |
IGL02309:Celsr2
|
APN |
3 |
108396011 |
missense |
probably damaging |
1.00 |
IGL02325:Celsr2
|
APN |
3 |
108412871 |
missense |
probably damaging |
1.00 |
IGL02409:Celsr2
|
APN |
3 |
108413955 |
missense |
probably damaging |
1.00 |
IGL02514:Celsr2
|
APN |
3 |
108397510 |
missense |
probably benign |
0.01 |
IGL02812:Celsr2
|
APN |
3 |
108414113 |
missense |
probably benign |
0.25 |
IGL02894:Celsr2
|
APN |
3 |
108395210 |
missense |
probably damaging |
1.00 |
IGL03281:Celsr2
|
APN |
3 |
108412940 |
missense |
probably damaging |
1.00 |
barrow
|
UTSW |
3 |
108394965 |
missense |
possibly damaging |
0.92 |
goldeneye
|
UTSW |
3 |
108394919 |
missense |
probably damaging |
1.00 |
1mM(1):Celsr2
|
UTSW |
3 |
108400838 |
missense |
probably benign |
0.01 |
ANU74:Celsr2
|
UTSW |
3 |
108412499 |
missense |
probably damaging |
1.00 |
IGL02799:Celsr2
|
UTSW |
3 |
108414062 |
missense |
probably damaging |
1.00 |
R0011:Celsr2
|
UTSW |
3 |
108413402 |
missense |
probably benign |
0.19 |
R0031:Celsr2
|
UTSW |
3 |
108413063 |
missense |
probably damaging |
1.00 |
R0049:Celsr2
|
UTSW |
3 |
108397254 |
missense |
probably benign |
0.12 |
R0049:Celsr2
|
UTSW |
3 |
108397254 |
missense |
probably benign |
0.12 |
R0090:Celsr2
|
UTSW |
3 |
108393327 |
splice site |
probably benign |
|
R0140:Celsr2
|
UTSW |
3 |
108397933 |
missense |
probably benign |
0.00 |
R0524:Celsr2
|
UTSW |
3 |
108401587 |
missense |
probably damaging |
1.00 |
R0607:Celsr2
|
UTSW |
3 |
108403895 |
critical splice donor site |
probably null |
|
R0662:Celsr2
|
UTSW |
3 |
108398520 |
missense |
probably damaging |
0.99 |
R0690:Celsr2
|
UTSW |
3 |
108414977 |
missense |
probably damaging |
1.00 |
R0691:Celsr2
|
UTSW |
3 |
108412623 |
missense |
probably damaging |
1.00 |
R0710:Celsr2
|
UTSW |
3 |
108412712 |
missense |
probably benign |
0.42 |
R0730:Celsr2
|
UTSW |
3 |
108398606 |
missense |
probably damaging |
1.00 |
R0815:Celsr2
|
UTSW |
3 |
108401301 |
missense |
possibly damaging |
0.56 |
R0848:Celsr2
|
UTSW |
3 |
108414338 |
missense |
probably benign |
|
R0989:Celsr2
|
UTSW |
3 |
108403272 |
missense |
probably benign |
0.00 |
R1185:Celsr2
|
UTSW |
3 |
108399709 |
missense |
possibly damaging |
0.95 |
R1185:Celsr2
|
UTSW |
3 |
108399709 |
missense |
possibly damaging |
0.95 |
R1185:Celsr2
|
UTSW |
3 |
108399709 |
missense |
possibly damaging |
0.95 |
R1469:Celsr2
|
UTSW |
3 |
108414108 |
missense |
probably damaging |
1.00 |
R1469:Celsr2
|
UTSW |
3 |
108414108 |
missense |
probably damaging |
1.00 |
R1474:Celsr2
|
UTSW |
3 |
108393739 |
missense |
possibly damaging |
0.91 |
R1608:Celsr2
|
UTSW |
3 |
108402483 |
missense |
probably damaging |
1.00 |
R1653:Celsr2
|
UTSW |
3 |
108413520 |
missense |
possibly damaging |
0.52 |
R1659:Celsr2
|
UTSW |
3 |
108414095 |
missense |
probably benign |
|
R1689:Celsr2
|
UTSW |
3 |
108407304 |
missense |
possibly damaging |
0.63 |
R1848:Celsr2
|
UTSW |
3 |
108401310 |
missense |
probably benign |
0.35 |
R1859:Celsr2
|
UTSW |
3 |
108396630 |
missense |
probably damaging |
1.00 |
R1918:Celsr2
|
UTSW |
3 |
108398650 |
missense |
probably benign |
0.05 |
R1974:Celsr2
|
UTSW |
3 |
108414214 |
missense |
probably damaging |
1.00 |
R2042:Celsr2
|
UTSW |
3 |
108402495 |
missense |
probably damaging |
0.98 |
R2167:Celsr2
|
UTSW |
3 |
108413193 |
missense |
probably damaging |
0.96 |
R2434:Celsr2
|
UTSW |
3 |
108404479 |
missense |
probably damaging |
1.00 |
R2504:Celsr2
|
UTSW |
3 |
108413591 |
missense |
probably benign |
0.11 |
R3420:Celsr2
|
UTSW |
3 |
108414416 |
missense |
probably benign |
0.03 |
R3712:Celsr2
|
UTSW |
3 |
108400839 |
missense |
probably benign |
|
R3723:Celsr2
|
UTSW |
3 |
108397415 |
splice site |
probably benign |
|
R3809:Celsr2
|
UTSW |
3 |
108403239 |
missense |
possibly damaging |
0.67 |
R4018:Celsr2
|
UTSW |
3 |
108394965 |
missense |
possibly damaging |
0.92 |
R4126:Celsr2
|
UTSW |
3 |
108402097 |
missense |
possibly damaging |
0.71 |
R4177:Celsr2
|
UTSW |
3 |
108413978 |
missense |
probably damaging |
0.96 |
R4232:Celsr2
|
UTSW |
3 |
108413772 |
missense |
probably benign |
0.02 |
R4293:Celsr2
|
UTSW |
3 |
108393677 |
missense |
probably benign |
0.01 |
R4458:Celsr2
|
UTSW |
3 |
108394997 |
missense |
probably damaging |
0.98 |
R4621:Celsr2
|
UTSW |
3 |
108395216 |
missense |
possibly damaging |
0.86 |
R4645:Celsr2
|
UTSW |
3 |
108395969 |
missense |
probably damaging |
1.00 |
R4700:Celsr2
|
UTSW |
3 |
108397231 |
missense |
probably benign |
0.24 |
R4732:Celsr2
|
UTSW |
3 |
108398952 |
missense |
probably damaging |
0.99 |
R4733:Celsr2
|
UTSW |
3 |
108398952 |
missense |
probably damaging |
0.99 |
R4901:Celsr2
|
UTSW |
3 |
108406987 |
missense |
possibly damaging |
0.81 |
R4932:Celsr2
|
UTSW |
3 |
108402758 |
missense |
probably damaging |
1.00 |
R4989:Celsr2
|
UTSW |
3 |
108412629 |
missense |
possibly damaging |
0.62 |
R5052:Celsr2
|
UTSW |
3 |
108412358 |
missense |
probably damaging |
1.00 |
R5093:Celsr2
|
UTSW |
3 |
108413373 |
missense |
possibly damaging |
0.66 |
R5114:Celsr2
|
UTSW |
3 |
108393996 |
missense |
probably benign |
0.05 |
R5120:Celsr2
|
UTSW |
3 |
108393120 |
missense |
probably benign |
0.02 |
R5135:Celsr2
|
UTSW |
3 |
108398659 |
missense |
probably damaging |
1.00 |
R5247:Celsr2
|
UTSW |
3 |
108397630 |
missense |
probably benign |
0.34 |
R5381:Celsr2
|
UTSW |
3 |
108402757 |
missense |
probably damaging |
1.00 |
R5412:Celsr2
|
UTSW |
3 |
108399995 |
missense |
probably damaging |
1.00 |
R5445:Celsr2
|
UTSW |
3 |
108392658 |
missense |
probably benign |
0.01 |
R5528:Celsr2
|
UTSW |
3 |
108413294 |
missense |
probably damaging |
1.00 |
R5598:Celsr2
|
UTSW |
3 |
108402803 |
missense |
possibly damaging |
0.82 |
R5652:Celsr2
|
UTSW |
3 |
108396735 |
missense |
probably null |
0.49 |
R5697:Celsr2
|
UTSW |
3 |
108403921 |
nonsense |
probably null |
|
R5718:Celsr2
|
UTSW |
3 |
108393358 |
missense |
probably benign |
|
R5869:Celsr2
|
UTSW |
3 |
108413909 |
missense |
probably damaging |
1.00 |
R5876:Celsr2
|
UTSW |
3 |
108413943 |
missense |
probably damaging |
0.96 |
R6021:Celsr2
|
UTSW |
3 |
108401245 |
missense |
probably benign |
|
R6054:Celsr2
|
UTSW |
3 |
108406963 |
missense |
possibly damaging |
0.95 |
R6244:Celsr2
|
UTSW |
3 |
108393128 |
missense |
probably damaging |
0.96 |
R6313:Celsr2
|
UTSW |
3 |
108401214 |
missense |
probably damaging |
0.99 |
R6322:Celsr2
|
UTSW |
3 |
108412574 |
missense |
probably damaging |
1.00 |
R6555:Celsr2
|
UTSW |
3 |
108394919 |
missense |
probably damaging |
1.00 |
R6682:Celsr2
|
UTSW |
3 |
108400501 |
critical splice donor site |
probably null |
|
R7062:Celsr2
|
UTSW |
3 |
108402510 |
missense |
possibly damaging |
0.95 |
R7110:Celsr2
|
UTSW |
3 |
108397865 |
missense |
probably damaging |
1.00 |
R7139:Celsr2
|
UTSW |
3 |
108415359 |
missense |
unknown |
|
R7326:Celsr2
|
UTSW |
3 |
108394995 |
missense |
possibly damaging |
0.85 |
R7425:Celsr2
|
UTSW |
3 |
108402457 |
missense |
probably damaging |
1.00 |
R7452:Celsr2
|
UTSW |
3 |
108413090 |
missense |
possibly damaging |
0.95 |
R7461:Celsr2
|
UTSW |
3 |
108395640 |
missense |
probably damaging |
1.00 |
R7502:Celsr2
|
UTSW |
3 |
108398902 |
missense |
probably benign |
0.00 |
R7613:Celsr2
|
UTSW |
3 |
108395640 |
missense |
probably damaging |
1.00 |
R7644:Celsr2
|
UTSW |
3 |
108413490 |
missense |
probably damaging |
0.99 |
R7666:Celsr2
|
UTSW |
3 |
108398588 |
missense |
probably benign |
|
R7687:Celsr2
|
UTSW |
3 |
108397769 |
missense |
probably benign |
0.27 |
R7695:Celsr2
|
UTSW |
3 |
108402753 |
missense |
probably damaging |
1.00 |
R8002:Celsr2
|
UTSW |
3 |
108403969 |
missense |
probably damaging |
1.00 |
R8052:Celsr2
|
UTSW |
3 |
108412655 |
missense |
probably damaging |
1.00 |
R8283:Celsr2
|
UTSW |
3 |
108396455 |
missense |
probably damaging |
1.00 |
R8356:Celsr2
|
UTSW |
3 |
108413531 |
missense |
possibly damaging |
0.90 |
R8381:Celsr2
|
UTSW |
3 |
108395636 |
missense |
probably damaging |
1.00 |
R8427:Celsr2
|
UTSW |
3 |
108392633 |
makesense |
probably null |
|
R8435:Celsr2
|
UTSW |
3 |
108414399 |
missense |
probably benign |
|
R8438:Celsr2
|
UTSW |
3 |
108393823 |
missense |
probably damaging |
1.00 |
R8458:Celsr2
|
UTSW |
3 |
108398902 |
missense |
probably benign |
0.00 |
R8460:Celsr2
|
UTSW |
3 |
108396777 |
missense |
possibly damaging |
0.84 |
R8462:Celsr2
|
UTSW |
3 |
108412851 |
nonsense |
probably null |
|
R8479:Celsr2
|
UTSW |
3 |
108398902 |
missense |
probably benign |
0.00 |
R8480:Celsr2
|
UTSW |
3 |
108398902 |
missense |
probably benign |
0.00 |
R8512:Celsr2
|
UTSW |
3 |
108413838 |
missense |
probably damaging |
1.00 |
R8694:Celsr2
|
UTSW |
3 |
108406860 |
missense |
probably damaging |
1.00 |
R8772:Celsr2
|
UTSW |
3 |
108397073 |
missense |
possibly damaging |
0.84 |
R8843:Celsr2
|
UTSW |
3 |
108396127 |
splice site |
probably benign |
|
R8888:Celsr2
|
UTSW |
3 |
108413564 |
missense |
possibly damaging |
0.95 |
R8895:Celsr2
|
UTSW |
3 |
108413564 |
missense |
possibly damaging |
0.95 |
R8917:Celsr2
|
UTSW |
3 |
108396566 |
missense |
probably benign |
0.00 |
R9119:Celsr2
|
UTSW |
3 |
108401972 |
missense |
possibly damaging |
0.90 |
R9169:Celsr2
|
UTSW |
3 |
108402546 |
missense |
probably benign |
0.04 |
R9209:Celsr2
|
UTSW |
3 |
108414033 |
missense |
probably benign |
0.02 |
R9342:Celsr2
|
UTSW |
3 |
108413126 |
missense |
probably damaging |
1.00 |
R9416:Celsr2
|
UTSW |
3 |
108414768 |
missense |
probably damaging |
0.96 |
R9493:Celsr2
|
UTSW |
3 |
108393758 |
missense |
probably damaging |
1.00 |
R9564:Celsr2
|
UTSW |
3 |
108414518 |
missense |
probably damaging |
1.00 |
R9598:Celsr2
|
UTSW |
3 |
108415262 |
missense |
possibly damaging |
0.72 |
R9629:Celsr2
|
UTSW |
3 |
108401599 |
missense |
probably damaging |
1.00 |
R9691:Celsr2
|
UTSW |
3 |
108394235 |
missense |
probably damaging |
1.00 |
X0020:Celsr2
|
UTSW |
3 |
108396110 |
missense |
probably damaging |
1.00 |
X0050:Celsr2
|
UTSW |
3 |
108401272 |
missense |
probably benign |
0.09 |
Z1088:Celsr2
|
UTSW |
3 |
108414117 |
missense |
probably damaging |
1.00 |
Z1176:Celsr2
|
UTSW |
3 |
108393131 |
missense |
probably benign |
0.10 |
Z1176:Celsr2
|
UTSW |
3 |
108412341 |
missense |
probably benign |
0.07 |
Z1177:Celsr2
|
UTSW |
3 |
108412220 |
missense |
probably damaging |
1.00 |
Z1177:Celsr2
|
UTSW |
3 |
108413571 |
missense |
probably benign |
0.32 |
Z1191:Celsr2
|
UTSW |
3 |
108414549 |
missense |
possibly damaging |
0.68 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCTCCAGGAACAGGCTGTC -3'
(R):5'- GGTTCCTGTTTACCTGAGACTC -3'
Sequencing Primer
(F):5'- AGGAACAGGCTGTCTCACTG -3'
(R):5'- TACCTGAGACTCCGACCTG -3'
|
Posted On |
2014-10-30 |