Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02234:Celsr3'

285832

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 #

IGL02234

Quality Score

Status

Chromosome

Chromosomal Location

108826320-108852969 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 108829960 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 1214 (R1214L)

Ref Sequence

ENSEMBL: ENSMUSP00000150759 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024238] [ENSMUST00000192235] [ENSMUST00000213524]

Predicted Effect

probably benign
Transcript: ENSMUST00000024238
AA Change: R1214L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000024238
Gene: ENSMUSG00000023473
AA Change: R1214L

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

probably benign
Transcript: ENSMUST00000192235

SMART Domains

Protein: ENSMUSP00000141429
Gene: ENSMUSG00000023473

Domain	Start	End	E-Value	Type
low complexity region	67	74	N/A	INTRINSIC
low complexity region	89	99	N/A	INTRINSIC
EGF	108	163	4.9e-5	SMART
EGF	168	201	2.6e-6	SMART
EGF_like	208	239	1.6e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193114

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193726

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194742

Predicted Effect

probably benign
Transcript: ENSMUST00000213524
AA Change: R1214L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,668,220	T1010M	possibly damaging	Het
Atr	A	G	9: 95,947,250		probably benign	Het
Cdc42bpa	A	T	1: 180,151,191	K1585*	probably null	Het
Cdh19	T	C	1: 110,932,226	D175G	probably damaging	Het
Chchd1	T	C	14: 20,703,410		probably null	Het
Col4a1	T	C	8: 11,216,713	K1165E	probably damaging	Het
Col6a4	A	G	9: 106,013,432	F1888L	possibly damaging	Het
Csmd3	C	A	15: 47,948,116	R1193L	probably damaging	Het
Cyp2d11	T	A	15: 82,390,139	H347L	probably benign	Het
Cyp4f13	A	G	17: 32,924,774		probably benign	Het
Dopey2	T	C	16: 93,752,151	V193A	probably benign	Het
Dus4l	T	C	12: 31,641,496		probably benign	Het
Epc1	G	A	18: 6,439,938	H79Y	probably damaging	Het
Gm12588	T	A	11: 121,908,325			Het
Gpr107	T	C	2: 31,177,833	Y222H	probably damaging	Het
Gzmn	C	T	14: 56,169,007		probably null	Het
Helq	A	G	5: 100,796,470	I258T	possibly damaging	Het
Hsp90ab1	T	C	17: 45,569,735	K137R	probably benign	Het
Htr1f	T	A	16: 64,926,067	R287S	probably damaging	Het
Il20ra	A	C	10: 19,749,270	D99A	probably damaging	Het
Lpp	C	T	16: 24,762,145	R204W	probably damaging	Het
Mboat7	A	G	7: 3,691,351	Y34H	probably damaging	Het
Mid2	T	C	X: 140,763,669	S646P	probably damaging	Het
Msh6	T	C	17: 87,986,801	S995P	probably damaging	Het
Mtmr10	A	G	7: 64,299,602	I108V	probably benign	Het
Muc6	G	A	7: 141,640,575	T1395M	probably benign	Het
Nlrp4f	A	G	13: 65,194,488	F448L	probably damaging	Het
Odc1	C	A	12: 17,548,620	D220E	possibly damaging	Het
Olfr1080	T	C	2: 86,553,266	N286S	probably damaging	Het
Pax7	A	G	4: 139,828,590	I189T	probably damaging	Het
Pcdh12	T	A	18: 38,283,535	H179L	probably damaging	Het
Pcdh15	A	T	10: 74,631,862	M1836L	probably benign	Het
Psmc5	T	C	11: 106,263,010	V390A	probably benign	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Rpgrip1	A	G	14: 52,131,309		probably benign	Het
Sema5a	C	T	15: 32,679,172	R866C	probably damaging	Het
Stox2	A	G	8: 47,193,612	F271S	probably damaging	Het
Tpgs2	T	C	18: 25,149,244		probably null	Het
Ttll8	T	A	15: 88,914,049	I828F	possibly damaging	Het
Vmn1r7	T	C	6: 57,024,552	Y241C	probably damaging	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	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
IGL00552:Celsr3	APN	9	108841263	missense	possibly damaging	0.88
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
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

2015-04-16