Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00552:Celsr3'

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) question?

Stock #

IGL00552

Quality Score

Status

Chromosome

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	unclassified	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
R7964:Celsr3	UTSW	9	108828072	missense	probably benign	0.28
R7995:Celsr3	UTSW	9	108845083	missense	probably damaging	0.99
R8006:Celsr3	UTSW	9	108829107	missense	probably damaging	1.00
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