Incidental Mutation 'IGL00552:Celsr3'
ID | 9596 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Celsr3
|
Ensembl Gene |
ENSMUSG00000023473 |
Gene Name | cadherin, EGF LAG seven-pass G-type receptor 3 |
Synonyms | Fmi1, flamingo |
Accession Numbers | Genbank: NM_080437; MGI: 1858236 |
Is this an essential gene? |
Essential (E-score: 1.000)
|
Stock # | IGL00552
|
Quality Score | |
Status |
|
Chromosome | 9 |
Chromosomal Location | 108826320-108852969 bp(+) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
A to T
at 108841263 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Asparagine to Tyrosine
at position 2338
(N2338Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024238
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024238]
[ENSMUST00000194079]
[ENSMUST00000213524]
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024238
AA Change: N2338Y
PolyPhen 2
Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000024238 Gene: ENSMUSG00000023473 AA Change: N2338Y
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
low complexity region
|
264 |
293 |
N/A |
INTRINSIC |
CA
|
338 |
422 |
2.25e-27 |
SMART |
CA
|
446 |
534 |
5.05e-30 |
SMART |
CA
|
558 |
640 |
7.6e-25 |
SMART |
CA
|
664 |
745 |
7.36e-32 |
SMART |
CA
|
769 |
847 |
5.95e-18 |
SMART |
CA
|
871 |
950 |
5.25e-28 |
SMART |
CA
|
974 |
1056 |
2.67e-29 |
SMART |
CA
|
1080 |
1158 |
1.18e-21 |
SMART |
CA
|
1186 |
1262 |
3.2e-1 |
SMART |
low complexity region
|
1328 |
1335 |
N/A |
INTRINSIC |
low complexity region
|
1350 |
1360 |
N/A |
INTRINSIC |
EGF
|
1369 |
1424 |
1.02e-2 |
SMART |
EGF
|
1429 |
1464 |
3.23e0 |
SMART |
EGF
|
1467 |
1503 |
8.78e-2 |
SMART |
LamG
|
1524 |
1691 |
2.27e-35 |
SMART |
EGF
|
1714 |
1747 |
4.22e-4 |
SMART |
LamG
|
1774 |
1913 |
9.02e-21 |
SMART |
EGF
|
1938 |
1971 |
2.43e-4 |
SMART |
EGF
|
1973 |
2009 |
1.3e-4 |
SMART |
EGF_Lam
|
2066 |
2111 |
5.08e-7 |
SMART |
HormR
|
2114 |
2176 |
3.42e-21 |
SMART |
Pfam:GAIN
|
2188 |
2441 |
1.1e-57 |
PFAM |
GPS
|
2467 |
2520 |
7.92e-20 |
SMART |
Pfam:7tm_2
|
2527 |
2758 |
1.5e-56 |
PFAM |
low complexity region
|
2813 |
2829 |
N/A |
INTRINSIC |
low complexity region
|
2882 |
2906 |
N/A |
INTRINSIC |
low complexity region
|
3058 |
3072 |
N/A |
INTRINSIC |
low complexity region
|
3149 |
3189 |
N/A |
INTRINSIC |
low complexity region
|
3239 |
3261 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175326
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193726
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194079
|
SMART Domains |
Protein: ENSMUSP00000141789 Gene: ENSMUSG00000023473
Domain | Start | End | E-Value | Type |
Pfam:7tm_2
|
1 |
185 |
6.9e-45 |
PFAM |
low complexity region
|
240 |
256 |
N/A |
INTRINSIC |
low complexity region
|
309 |
333 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195255
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195857
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213524
AA Change: N2345Y
PolyPhen 2
Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the flamingo subfamily, which is included in the cadherin superfamily. The flamingo cadherins consist of nonclassic-type cadherins that do not interact with catenins. They are plasma membrane proteins containing seven epidermal growth factor-like repeats, nine cadherin domains and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic feature of their subfamily. The encoded protein may be involved in the regulation of contact-dependent neurite growth and may play a role in tumor formation. [provided by RefSeq, Jun 2013] PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality, abnormal neurvous system development, and abnormal respiratory system development. [provided by MGI curators]
|
Allele List at MGI | All alleles(4) : Targeted, knock-out(2) Targeted, other(2) |
Other mutations in this stock |
Total: 13 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Camta1 |
A |
T |
4: 151,071,424 |
|
probably null |
Het |
Dnm3 |
A |
G |
1: 162,011,926 |
V683A |
probably damaging |
Het |
Gm11565 |
T |
C |
11: 99,915,076 |
L98P |
probably damaging |
Het |
Il21r |
A |
T |
7: 125,632,525 |
D375V |
probably damaging |
Het |
Oxct2b |
A |
G |
4: 123,117,508 |
D407G |
probably damaging |
Het |
Ppp1r3a |
A |
G |
6: 14,755,084 |
Y55H |
probably damaging |
Het |
Rftn1 |
A |
T |
17: 50,055,377 |
V231E |
probably benign |
Het |
Serpini1 |
C |
T |
3: 75,640,695 |
R393* |
probably null |
Het |
Sumo3 |
T |
A |
10: 77,614,026 |
I66N |
probably damaging |
Het |
Ubr1 |
T |
C |
2: 120,875,407 |
H1525R |
possibly damaging |
Het |
Washc2 |
A |
G |
6: 116,256,824 |
N937S |
possibly damaging |
Het |
Wdr20 |
A |
T |
12: 110,779,449 |
K75* |
probably null |
Het |
Zscan20 |
G |
T |
4: 128,586,635 |
Q688K |
probably damaging |
Het |
|
Other mutations in Celsr3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00233:Celsr3
|
APN |
9 |
108848925 |
missense |
probably damaging |
1.00 |
IGL00536:Celsr3
|
APN |
9 |
108829192 |
missense |
probably benign |
0.33 |
IGL00801:Celsr3
|
APN |
9 |
108842576 |
missense |
probably benign |
|
IGL01420:Celsr3
|
APN |
9 |
108841190 |
critical splice acceptor site |
probably null |
|
IGL01541:Celsr3
|
APN |
9 |
108831708 |
missense |
probably damaging |
1.00 |
IGL01619:Celsr3
|
APN |
9 |
108834557 |
missense |
probably damaging |
1.00 |
IGL01619:Celsr3
|
APN |
9 |
108837404 |
missense |
probably benign |
0.00 |
IGL01631:Celsr3
|
APN |
9 |
108837404 |
missense |
probably benign |
0.00 |
IGL01777:Celsr3
|
APN |
9 |
108835942 |
missense |
probably benign |
0.08 |
IGL01938:Celsr3
|
APN |
9 |
108828415 |
missense |
probably benign |
0.34 |
IGL02135:Celsr3
|
APN |
9 |
108827556 |
missense |
probably benign |
0.11 |
IGL02231:Celsr3
|
APN |
9 |
108842510 |
missense |
probably damaging |
1.00 |
IGL02234:Celsr3
|
APN |
9 |
108829960 |
missense |
probably benign |
|
IGL02392:Celsr3
|
APN |
9 |
108834721 |
splice site |
probably benign |
|
IGL02416:Celsr3
|
APN |
9 |
108832119 |
missense |
probably damaging |
1.00 |
IGL02421:Celsr3
|
APN |
9 |
108840463 |
missense |
probably damaging |
1.00 |
IGL02455:Celsr3
|
APN |
9 |
108842893 |
missense |
probably benign |
0.15 |
IGL02798:Celsr3
|
APN |
9 |
108843575 |
missense |
probably damaging |
1.00 |
IGL02939:Celsr3
|
APN |
9 |
108849453 |
missense |
probably damaging |
1.00 |
IGL02947:Celsr3
|
APN |
9 |
108845935 |
missense |
probably benign |
0.12 |
IGL02986:Celsr3
|
APN |
9 |
108841255 |
splice site |
probably null |
|
IGL03089:Celsr3
|
APN |
9 |
108826607 |
missense |
probably benign |
0.04 |
IGL03162:Celsr3
|
APN |
9 |
108842558 |
missense |
probably damaging |
1.00 |
IGL03267:Celsr3
|
APN |
9 |
108836525 |
splice site |
probably benign |
|
Diminishment
|
UTSW |
9 |
108842708 |
intron |
probably benign |
|
little_d
|
UTSW |
9 |
108827692 |
missense |
probably damaging |
0.98 |
nogal
|
UTSW |
9 |
108835838 |
missense |
probably benign |
|
F6893:Celsr3
|
UTSW |
9 |
108835067 |
missense |
probably benign |
0.00 |
PIT4243001:Celsr3
|
UTSW |
9 |
108832308 |
missense |
probably benign |
0.13 |
PIT4810001:Celsr3
|
UTSW |
9 |
108845733 |
missense |
probably damaging |
1.00 |
R0110:Celsr3
|
UTSW |
9 |
108827005 |
missense |
possibly damaging |
0.62 |
R0243:Celsr3
|
UTSW |
9 |
108843724 |
splice site |
probably benign |
|
R0382:Celsr3
|
UTSW |
9 |
108829218 |
missense |
probably damaging |
1.00 |
R0482:Celsr3
|
UTSW |
9 |
108829073 |
nonsense |
probably null |
|
R0510:Celsr3
|
UTSW |
9 |
108827005 |
missense |
possibly damaging |
0.62 |
R0630:Celsr3
|
UTSW |
9 |
108827692 |
missense |
probably damaging |
0.98 |
R0656:Celsr3
|
UTSW |
9 |
108834655 |
missense |
possibly damaging |
0.89 |
R0764:Celsr3
|
UTSW |
9 |
108827818 |
missense |
probably damaging |
1.00 |
R0883:Celsr3
|
UTSW |
9 |
108842633 |
missense |
probably damaging |
1.00 |
R0924:Celsr3
|
UTSW |
9 |
108846025 |
missense |
possibly damaging |
0.78 |
R1015:Celsr3
|
UTSW |
9 |
108833176 |
missense |
probably benign |
0.17 |
R1321:Celsr3
|
UTSW |
9 |
108835870 |
missense |
probably damaging |
1.00 |
R1423:Celsr3
|
UTSW |
9 |
108826905 |
missense |
probably benign |
0.00 |
R1497:Celsr3
|
UTSW |
9 |
108848865 |
missense |
probably benign |
0.14 |
R1520:Celsr3
|
UTSW |
9 |
108848658 |
missense |
probably damaging |
1.00 |
R1534:Celsr3
|
UTSW |
9 |
108848884 |
missense |
probably damaging |
0.99 |
R1569:Celsr3
|
UTSW |
9 |
108829068 |
missense |
probably damaging |
1.00 |
R1657:Celsr3
|
UTSW |
9 |
108842952 |
nonsense |
probably null |
|
R1753:Celsr3
|
UTSW |
9 |
108831857 |
missense |
probably damaging |
0.99 |
R1764:Celsr3
|
UTSW |
9 |
108828958 |
missense |
probably damaging |
1.00 |
R1801:Celsr3
|
UTSW |
9 |
108834626 |
missense |
possibly damaging |
0.88 |
R1838:Celsr3
|
UTSW |
9 |
108829906 |
missense |
probably benign |
|
R1839:Celsr3
|
UTSW |
9 |
108829906 |
missense |
probably benign |
|
R1874:Celsr3
|
UTSW |
9 |
108835838 |
missense |
probably benign |
|
R1875:Celsr3
|
UTSW |
9 |
108835838 |
missense |
probably benign |
|
R1953:Celsr3
|
UTSW |
9 |
108843182 |
missense |
probably benign |
0.19 |
R1960:Celsr3
|
UTSW |
9 |
108845817 |
missense |
probably benign |
|
R2113:Celsr3
|
UTSW |
9 |
108838470 |
missense |
probably damaging |
1.00 |
R2290:Celsr3
|
UTSW |
9 |
108843224 |
missense |
probably damaging |
1.00 |
R2369:Celsr3
|
UTSW |
9 |
108842552 |
missense |
probably benign |
|
R2373:Celsr3
|
UTSW |
9 |
108842552 |
missense |
probably benign |
|
R2374:Celsr3
|
UTSW |
9 |
108842552 |
missense |
probably benign |
|
R2375:Celsr3
|
UTSW |
9 |
108842552 |
missense |
probably benign |
|
R2844:Celsr3
|
UTSW |
9 |
108829308 |
missense |
probably damaging |
1.00 |
R2968:Celsr3
|
UTSW |
9 |
108832191 |
missense |
probably damaging |
1.00 |
R3103:Celsr3
|
UTSW |
9 |
108837139 |
missense |
probably benign |
0.31 |
R3159:Celsr3
|
UTSW |
9 |
108827710 |
missense |
possibly damaging |
0.94 |
R3791:Celsr3
|
UTSW |
9 |
108842552 |
missense |
probably benign |
|
R4194:Celsr3
|
UTSW |
9 |
108843302 |
critical splice donor site |
probably null |
|
R4329:Celsr3
|
UTSW |
9 |
108846049 |
missense |
probably benign |
0.00 |
R4365:Celsr3
|
UTSW |
9 |
108829847 |
missense |
possibly damaging |
0.47 |
R4419:Celsr3
|
UTSW |
9 |
108843244 |
missense |
possibly damaging |
0.84 |
R4484:Celsr3
|
UTSW |
9 |
108846063 |
critical splice donor site |
probably null |
|
R4582:Celsr3
|
UTSW |
9 |
108845723 |
missense |
probably damaging |
1.00 |
R4681:Celsr3
|
UTSW |
9 |
108827754 |
missense |
possibly damaging |
0.58 |
R4729:Celsr3
|
UTSW |
9 |
108847652 |
missense |
probably benign |
0.05 |
R4881:Celsr3
|
UTSW |
9 |
108843941 |
missense |
probably damaging |
1.00 |
R4893:Celsr3
|
UTSW |
9 |
108849421 |
missense |
probably damaging |
1.00 |
R5183:Celsr3
|
UTSW |
9 |
108837560 |
missense |
probably damaging |
0.99 |
R5207:Celsr3
|
UTSW |
9 |
108832759 |
missense |
probably benign |
0.01 |
R5290:Celsr3
|
UTSW |
9 |
108843158 |
missense |
probably benign |
0.01 |
R5327:Celsr3
|
UTSW |
9 |
108842708 |
intron |
probably benign |
|
R5345:Celsr3
|
UTSW |
9 |
108832124 |
missense |
probably damaging |
1.00 |
R5358:Celsr3
|
UTSW |
9 |
108832025 |
missense |
possibly damaging |
0.96 |
R5396:Celsr3
|
UTSW |
9 |
108828582 |
missense |
probably damaging |
1.00 |
R5414:Celsr3
|
UTSW |
9 |
108840042 |
missense |
possibly damaging |
0.88 |
R5452:Celsr3
|
UTSW |
9 |
108844034 |
missense |
possibly damaging |
0.68 |
R5467:Celsr3
|
UTSW |
9 |
108828637 |
missense |
probably damaging |
1.00 |
R5479:Celsr3
|
UTSW |
9 |
108844544 |
critical splice donor site |
probably null |
|
R5629:Celsr3
|
UTSW |
9 |
108849067 |
missense |
probably benign |
0.41 |
R5637:Celsr3
|
UTSW |
9 |
108837133 |
missense |
probably damaging |
1.00 |
R5652:Celsr3
|
UTSW |
9 |
108838472 |
missense |
probably benign |
0.03 |
R5739:Celsr3
|
UTSW |
9 |
108827158 |
missense |
probably benign |
|
R5785:Celsr3
|
UTSW |
9 |
108827797 |
missense |
probably damaging |
1.00 |
R5877:Celsr3
|
UTSW |
9 |
108845727 |
missense |
probably damaging |
0.98 |
R5961:Celsr3
|
UTSW |
9 |
108831794 |
missense |
probably damaging |
1.00 |
R6046:Celsr3
|
UTSW |
9 |
108837151 |
missense |
probably benign |
0.01 |
R6176:Celsr3
|
UTSW |
9 |
108828355 |
missense |
probably damaging |
1.00 |
R6291:Celsr3
|
UTSW |
9 |
108828842 |
missense |
probably damaging |
1.00 |
R6468:Celsr3
|
UTSW |
9 |
108835790 |
missense |
probably benign |
0.08 |
R6481:Celsr3
|
UTSW |
9 |
108837084 |
missense |
possibly damaging |
0.92 |
R6547:Celsr3
|
UTSW |
9 |
108829128 |
missense |
probably damaging |
1.00 |
R6763:Celsr3
|
UTSW |
9 |
108827350 |
missense |
probably damaging |
1.00 |
R6870:Celsr3
|
UTSW |
9 |
108829191 |
missense |
probably benign |
0.02 |
R6977:Celsr3
|
UTSW |
9 |
108827715 |
missense |
probably benign |
|
R7061:Celsr3
|
UTSW |
9 |
108847594 |
nonsense |
probably null |
|
R7122:Celsr3
|
UTSW |
9 |
108828567 |
missense |
possibly damaging |
0.90 |
R7156:Celsr3
|
UTSW |
9 |
108838004 |
missense |
possibly damaging |
0.95 |
R7166:Celsr3
|
UTSW |
9 |
108842951 |
missense |
probably damaging |
1.00 |
R7176:Celsr3
|
UTSW |
9 |
108845762 |
missense |
probably benign |
|
R7213:Celsr3
|
UTSW |
9 |
108849040 |
missense |
probably damaging |
0.98 |
R7314:Celsr3
|
UTSW |
9 |
108829144 |
missense |
probably damaging |
1.00 |
R7478:Celsr3
|
UTSW |
9 |
108843578 |
missense |
probably benign |
0.37 |
R7508:Celsr3
|
UTSW |
9 |
108836622 |
missense |
probably benign |
|
R7554:Celsr3
|
UTSW |
9 |
108841209 |
missense |
probably benign |
|
R7615:Celsr3
|
UTSW |
9 |
108837652 |
missense |
possibly damaging |
0.75 |
R7653:Celsr3
|
UTSW |
9 |
108835070 |
nonsense |
probably null |
|
R7747:Celsr3
|
UTSW |
9 |
108829978 |
missense |
possibly damaging |
0.61 |
R7881:Celsr3
|
UTSW |
9 |
108828072 |
missense |
probably benign |
0.28 |
R7935:Celsr3
|
UTSW |
9 |
108829641 |
missense |
probably benign |
0.01 |
R7995:Celsr3
|
UTSW |
9 |
108845083 |
missense |
probably damaging |
0.99 |
R8006:Celsr3
|
UTSW |
9 |
108829107 |
missense |
probably damaging |
1.00 |
R8077:Celsr3
|
UTSW |
9 |
108828331 |
missense |
probably benign |
0.15 |
R8284:Celsr3
|
UTSW |
9 |
108846413 |
missense |
probably damaging |
0.99 |
R8291:Celsr3
|
UTSW |
9 |
108837970 |
missense |
probably damaging |
1.00 |
R8322:Celsr3
|
UTSW |
9 |
108848794 |
missense |
probably damaging |
1.00 |
R8334:Celsr3
|
UTSW |
9 |
108841272 |
frame shift |
probably null |
|
R8337:Celsr3
|
UTSW |
9 |
108841272 |
frame shift |
probably null |
|
R8338:Celsr3
|
UTSW |
9 |
108827340 |
nonsense |
probably null |
|
R8353:Celsr3
|
UTSW |
9 |
108826535 |
missense |
probably benign |
0.00 |
R8407:Celsr3
|
UTSW |
9 |
108829057 |
missense |
probably damaging |
1.00 |
R8408:Celsr3
|
UTSW |
9 |
108831789 |
missense |
probably damaging |
1.00 |
R8459:Celsr3
|
UTSW |
9 |
108829630 |
missense |
probably damaging |
1.00 |
R8510:Celsr3
|
UTSW |
9 |
108838120 |
missense |
possibly damaging |
0.93 |
RF020:Celsr3
|
UTSW |
9 |
108849057 |
missense |
probably benign |
|
X0018:Celsr3
|
UTSW |
9 |
108827778 |
missense |
possibly damaging |
0.65 |
X0018:Celsr3
|
UTSW |
9 |
108840412 |
missense |
probably benign |
0.01 |
X0026:Celsr3
|
UTSW |
9 |
108828930 |
missense |
probably damaging |
0.99 |
Z1177:Celsr3
|
UTSW |
9 |
108826477 |
missense |
probably benign |
0.34 |
|
Posted On | 2012-12-06 |