Mutagenetix > Incidental Mutation

Incidental Mutation 'R3723:Celsr2'

270620

Institutional Source

Beutler Lab

Gene Symbol

Celsr2

Ensembl Gene

ENSMUSG00000068740

Gene Name

cadherin, EGF LAG seven-pass G-type receptor 2

Synonyms

EGFL2, Adgrc2, flamingo, mfmi1

MMRRC Submission

040714-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3723 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108298167-108323383 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 108304731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090558]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000090558

SMART Domains

Protein: ENSMUSP00000088046
Gene: ENSMUSG00000068740

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: ENSMUST00000126935

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130941

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133216

Predicted Effect

probably benign
Transcript: ENSMUST00000147251

SMART Domains

Protein: ENSMUSP00000122329
Gene: ENSMUSG00000068740

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

95% (38/40)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	C	19: 8,994,217 (GRCm39)	V5167A	possibly damaging	Het
Ano5	A	G	7: 51,226,276 (GRCm39)	Y510C	probably damaging	Het
Api5	C	T	2: 94,255,958 (GRCm39)	R243Q	possibly damaging	Het
Apob	A	T	12: 8,056,327 (GRCm39)	Q1570L	probably damaging	Het
Apob	A	G	12: 8,061,763 (GRCm39)	N3415S	possibly damaging	Het
Arsk	T	A	13: 76,214,772 (GRCm39)	I361F	probably damaging	Het
C9	G	A	15: 6,512,561 (GRCm39)	E228K	possibly damaging	Het
Cfap53	A	G	18: 74,492,640 (GRCm39)	I455V	probably benign	Het
Ckap4	A	G	10: 84,364,256 (GRCm39)	L269P	probably damaging	Het
Dnah7a	T	A	1: 53,486,505 (GRCm39)	D3352V	probably benign	Het
Dync2h1	A	T	9: 7,041,658 (GRCm39)	M3335K	probably benign	Het
Fam171a1	A	G	2: 3,221,412 (GRCm39)		probably benign	Het
Glis3	A	T	19: 28,239,991 (GRCm39)	C97*	probably null	Het
Gm14221	C	G	2: 160,410,347 (GRCm39)		noncoding transcript	Het
Gm8603	A	C	17: 13,737,075 (GRCm39)		probably null	Het
Gm9767	G	T	10: 25,954,469 (GRCm39)		probably benign	Het
Kctd16	A	G	18: 40,391,912 (GRCm39)	T167A	possibly damaging	Het
Kif18b	A	G	11: 102,807,102 (GRCm39)	F78L	probably damaging	Het
Mefv	A	G	16: 3,526,058 (GRCm39)		probably null	Het
Mipol1	C	A	12: 57,503,878 (GRCm39)	L349I	probably damaging	Het
Myo10	T	C	15: 25,803,374 (GRCm39)	V1527A	probably damaging	Het
Naip5	G	T	13: 100,359,522 (GRCm39)	Y571*	probably null	Het
Npl	A	G	1: 153,391,210 (GRCm39)	F182L	probably benign	Het
Pan3	T	A	5: 147,440,018 (GRCm39)		probably benign	Het
Pcdh15	A	T	10: 74,481,680 (GRCm39)	T342S	probably benign	Het
Pcdhga1	A	G	18: 37,796,045 (GRCm39)	T350A	possibly damaging	Het
Pramel28	T	C	4: 143,693,251 (GRCm39)	T76A	probably benign	Het
Prdm4	A	G	10: 85,735,145 (GRCm39)	S666P	probably damaging	Het
Rere	A	G	4: 150,553,252 (GRCm39)	E148G	probably damaging	Het
Scube2	T	C	7: 109,407,613 (GRCm39)		probably benign	Het
Sptbn1	A	G	11: 30,087,335 (GRCm39)	S1035P	possibly damaging	Het
Srsf4	C	T	4: 131,627,413 (GRCm39)		probably benign	Het
Supt3	A	G	17: 45,305,274 (GRCm39)	D108G	probably damaging	Het
Tnfsf13b	A	G	8: 10,081,545 (GRCm39)	I236V	possibly damaging	Het
Tns1	T	C	1: 73,964,099 (GRCm39)	S1511G	probably damaging	Het
Tpm1	G	A	9: 66,939,227 (GRCm39)		probably benign	Het
Uba6	T	C	5: 86,282,906 (GRCm39)	D559G	probably damaging	Het
Vmn1r117	T	A	7: 20,617,380 (GRCm39)	I223F	probably damaging	Het
Vmn2r91	G	A	17: 18,305,540 (GRCm39)		probably null	Het
Zfp30	A	G	7: 29,492,778 (GRCm39)	E344G	probably damaging	Het

Other mutations in Celsr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00898:Celsr2	APN	3	108,321,195 (GRCm39)	missense	possibly damaging	0.49
IGL01020:Celsr2	APN	3	108,310,586 (GRCm39)	missense	probably damaging	0.99
IGL01420:Celsr2	APN	3	108,301,079 (GRCm39)	missense	probably benign	0.13
IGL01448:Celsr2	APN	3	108,300,555 (GRCm39)	missense	probably damaging	0.99
IGL01559:Celsr2	APN	3	108,314,183 (GRCm39)	missense	possibly damaging	0.75
IGL01674:Celsr2	APN	3	108,322,159 (GRCm39)	missense	probably damaging	1.00
IGL01863:Celsr2	APN	3	108,301,338 (GRCm39)	missense	probably benign	0.00
IGL02309:Celsr2	APN	3	108,303,327 (GRCm39)	missense	probably damaging	1.00
IGL02325:Celsr2	APN	3	108,320,187 (GRCm39)	missense	probably damaging	1.00
IGL02409:Celsr2	APN	3	108,321,271 (GRCm39)	missense	probably damaging	1.00
IGL02514:Celsr2	APN	3	108,304,826 (GRCm39)	missense	probably benign	0.01
IGL02812:Celsr2	APN	3	108,321,429 (GRCm39)	missense	probably benign	0.25
IGL02894:Celsr2	APN	3	108,302,526 (GRCm39)	missense	probably damaging	1.00
IGL03281:Celsr2	APN	3	108,320,256 (GRCm39)	missense	probably damaging	1.00
barrow	UTSW	3	108,302,281 (GRCm39)	missense	possibly damaging	0.92
goldeneye	UTSW	3	108,302,235 (GRCm39)	missense	probably damaging	1.00
1mM(1):Celsr2	UTSW	3	108,308,154 (GRCm39)	missense	probably benign	0.01
ANU74:Celsr2	UTSW	3	108,319,815 (GRCm39)	missense	probably damaging	1.00
IGL02799:Celsr2	UTSW	3	108,321,378 (GRCm39)	missense	probably damaging	1.00
R0011:Celsr2	UTSW	3	108,320,718 (GRCm39)	missense	probably benign	0.19
R0031:Celsr2	UTSW	3	108,320,379 (GRCm39)	missense	probably damaging	1.00
R0049:Celsr2	UTSW	3	108,304,570 (GRCm39)	missense	probably benign	0.12
R0049:Celsr2	UTSW	3	108,304,570 (GRCm39)	missense	probably benign	0.12
R0090:Celsr2	UTSW	3	108,300,643 (GRCm39)	splice site	probably benign
R0140:Celsr2	UTSW	3	108,305,249 (GRCm39)	missense	probably benign	0.00
R0524:Celsr2	UTSW	3	108,308,903 (GRCm39)	missense	probably damaging	1.00
R0607:Celsr2	UTSW	3	108,311,211 (GRCm39)	critical splice donor site	probably null
R0662:Celsr2	UTSW	3	108,305,836 (GRCm39)	missense	probably damaging	0.99
R0690:Celsr2	UTSW	3	108,322,293 (GRCm39)	missense	probably damaging	1.00
R0691:Celsr2	UTSW	3	108,319,939 (GRCm39)	missense	probably damaging	1.00
R0710:Celsr2	UTSW	3	108,320,028 (GRCm39)	missense	probably benign	0.42
R0730:Celsr2	UTSW	3	108,305,922 (GRCm39)	missense	probably damaging	1.00
R0815:Celsr2	UTSW	3	108,308,617 (GRCm39)	missense	possibly damaging	0.56
R0848:Celsr2	UTSW	3	108,321,654 (GRCm39)	missense	probably benign
R0989:Celsr2	UTSW	3	108,310,588 (GRCm39)	missense	probably benign	0.00
R1185:Celsr2	UTSW	3	108,307,025 (GRCm39)	missense	possibly damaging	0.95
R1185:Celsr2	UTSW	3	108,307,025 (GRCm39)	missense	possibly damaging	0.95
R1185:Celsr2	UTSW	3	108,307,025 (GRCm39)	missense	possibly damaging	0.95
R1469:Celsr2	UTSW	3	108,321,424 (GRCm39)	missense	probably damaging	1.00
R1469:Celsr2	UTSW	3	108,321,424 (GRCm39)	missense	probably damaging	1.00
R1474:Celsr2	UTSW	3	108,301,055 (GRCm39)	missense	possibly damaging	0.91
R1608:Celsr2	UTSW	3	108,309,799 (GRCm39)	missense	probably damaging	1.00
R1653:Celsr2	UTSW	3	108,320,836 (GRCm39)	missense	possibly damaging	0.52
R1659:Celsr2	UTSW	3	108,321,411 (GRCm39)	missense	probably benign
R1689:Celsr2	UTSW	3	108,314,620 (GRCm39)	missense	possibly damaging	0.63
R1848:Celsr2	UTSW	3	108,308,626 (GRCm39)	missense	probably benign	0.35
R1859:Celsr2	UTSW	3	108,303,946 (GRCm39)	missense	probably damaging	1.00
R1918:Celsr2	UTSW	3	108,305,966 (GRCm39)	missense	probably benign	0.05
R1974:Celsr2	UTSW	3	108,321,530 (GRCm39)	missense	probably damaging	1.00
R2042:Celsr2	UTSW	3	108,309,811 (GRCm39)	missense	probably damaging	0.98
R2167:Celsr2	UTSW	3	108,320,509 (GRCm39)	missense	probably damaging	0.96
R2333:Celsr2	UTSW	3	108,305,921 (GRCm39)	missense	probably benign	0.16
R2434:Celsr2	UTSW	3	108,311,795 (GRCm39)	missense	probably damaging	1.00
R2504:Celsr2	UTSW	3	108,320,907 (GRCm39)	missense	probably benign	0.11
R3420:Celsr2	UTSW	3	108,321,732 (GRCm39)	missense	probably benign	0.03
R3712:Celsr2	UTSW	3	108,308,155 (GRCm39)	missense	probably benign
R3809:Celsr2	UTSW	3	108,310,555 (GRCm39)	missense	possibly damaging	0.67
R4018:Celsr2	UTSW	3	108,302,281 (GRCm39)	missense	possibly damaging	0.92
R4126:Celsr2	UTSW	3	108,309,413 (GRCm39)	missense	possibly damaging	0.71
R4177:Celsr2	UTSW	3	108,321,294 (GRCm39)	missense	probably damaging	0.96
R4232:Celsr2	UTSW	3	108,321,088 (GRCm39)	missense	probably benign	0.02
R4293:Celsr2	UTSW	3	108,300,993 (GRCm39)	missense	probably benign	0.01
R4458:Celsr2	UTSW	3	108,302,313 (GRCm39)	missense	probably damaging	0.98
R4621:Celsr2	UTSW	3	108,302,532 (GRCm39)	missense	possibly damaging	0.86
R4645:Celsr2	UTSW	3	108,303,285 (GRCm39)	missense	probably damaging	1.00
R4700:Celsr2	UTSW	3	108,304,547 (GRCm39)	missense	probably benign	0.24
R4732:Celsr2	UTSW	3	108,306,268 (GRCm39)	missense	probably damaging	0.99
R4733:Celsr2	UTSW	3	108,306,268 (GRCm39)	missense	probably damaging	0.99
R4901:Celsr2	UTSW	3	108,314,303 (GRCm39)	missense	possibly damaging	0.81
R4932:Celsr2	UTSW	3	108,310,074 (GRCm39)	missense	probably damaging	1.00
R4989:Celsr2	UTSW	3	108,319,945 (GRCm39)	missense	possibly damaging	0.62
R5052:Celsr2	UTSW	3	108,319,674 (GRCm39)	missense	probably damaging	1.00
R5093:Celsr2	UTSW	3	108,320,689 (GRCm39)	missense	possibly damaging	0.66
R5114:Celsr2	UTSW	3	108,301,312 (GRCm39)	missense	probably benign	0.05
R5120:Celsr2	UTSW	3	108,300,436 (GRCm39)	missense	probably benign	0.02
R5135:Celsr2	UTSW	3	108,305,975 (GRCm39)	missense	probably damaging	1.00
R5247:Celsr2	UTSW	3	108,304,946 (GRCm39)	missense	probably benign	0.34
R5381:Celsr2	UTSW	3	108,310,073 (GRCm39)	missense	probably damaging	1.00
R5412:Celsr2	UTSW	3	108,307,311 (GRCm39)	missense	probably damaging	1.00
R5445:Celsr2	UTSW	3	108,299,974 (GRCm39)	missense	probably benign	0.01
R5528:Celsr2	UTSW	3	108,320,610 (GRCm39)	missense	probably damaging	1.00
R5598:Celsr2	UTSW	3	108,310,119 (GRCm39)	missense	possibly damaging	0.82
R5652:Celsr2	UTSW	3	108,304,051 (GRCm39)	missense	probably null	0.49
R5697:Celsr2	UTSW	3	108,311,237 (GRCm39)	nonsense	probably null
R5718:Celsr2	UTSW	3	108,300,674 (GRCm39)	missense	probably benign
R5869:Celsr2	UTSW	3	108,321,225 (GRCm39)	missense	probably damaging	1.00
R5876:Celsr2	UTSW	3	108,321,259 (GRCm39)	missense	probably damaging	0.96
R6021:Celsr2	UTSW	3	108,308,561 (GRCm39)	missense	probably benign
R6054:Celsr2	UTSW	3	108,314,279 (GRCm39)	missense	possibly damaging	0.95
R6244:Celsr2	UTSW	3	108,300,444 (GRCm39)	missense	probably damaging	0.96
R6313:Celsr2	UTSW	3	108,308,530 (GRCm39)	missense	probably damaging	0.99
R6322:Celsr2	UTSW	3	108,319,890 (GRCm39)	missense	probably damaging	1.00
R6555:Celsr2	UTSW	3	108,302,235 (GRCm39)	missense	probably damaging	1.00
R6682:Celsr2	UTSW	3	108,307,817 (GRCm39)	critical splice donor site	probably null
R7062:Celsr2	UTSW	3	108,309,826 (GRCm39)	missense	possibly damaging	0.95
R7110:Celsr2	UTSW	3	108,305,181 (GRCm39)	missense	probably damaging	1.00
R7139:Celsr2	UTSW	3	108,322,675 (GRCm39)	missense	unknown
R7326:Celsr2	UTSW	3	108,302,311 (GRCm39)	missense	possibly damaging	0.85
R7425:Celsr2	UTSW	3	108,309,773 (GRCm39)	missense	probably damaging	1.00
R7452:Celsr2	UTSW	3	108,320,406 (GRCm39)	missense	possibly damaging	0.95
R7461:Celsr2	UTSW	3	108,302,956 (GRCm39)	missense	probably damaging	1.00
R7502:Celsr2	UTSW	3	108,306,218 (GRCm39)	missense	probably benign	0.00
R7613:Celsr2	UTSW	3	108,302,956 (GRCm39)	missense	probably damaging	1.00
R7644:Celsr2	UTSW	3	108,320,806 (GRCm39)	missense	probably damaging	0.99
R7666:Celsr2	UTSW	3	108,305,904 (GRCm39)	missense	probably benign
R7687:Celsr2	UTSW	3	108,305,085 (GRCm39)	missense	probably benign	0.27
R7695:Celsr2	UTSW	3	108,310,069 (GRCm39)	missense	probably damaging	1.00
R8002:Celsr2	UTSW	3	108,311,285 (GRCm39)	missense	probably damaging	1.00
R8052:Celsr2	UTSW	3	108,319,971 (GRCm39)	missense	probably damaging	1.00
R8283:Celsr2	UTSW	3	108,303,771 (GRCm39)	missense	probably damaging	1.00
R8356:Celsr2	UTSW	3	108,320,847 (GRCm39)	missense	possibly damaging	0.90
R8381:Celsr2	UTSW	3	108,302,952 (GRCm39)	missense	probably damaging	1.00
R8427:Celsr2	UTSW	3	108,299,949 (GRCm39)	makesense	probably null
R8435:Celsr2	UTSW	3	108,321,715 (GRCm39)	missense	probably benign
R8438:Celsr2	UTSW	3	108,301,139 (GRCm39)	missense	probably damaging	1.00
R8458:Celsr2	UTSW	3	108,306,218 (GRCm39)	missense	probably benign	0.00
R8460:Celsr2	UTSW	3	108,304,093 (GRCm39)	missense	possibly damaging	0.84
R8462:Celsr2	UTSW	3	108,320,167 (GRCm39)	nonsense	probably null
R8479:Celsr2	UTSW	3	108,306,218 (GRCm39)	missense	probably benign	0.00
R8480:Celsr2	UTSW	3	108,306,218 (GRCm39)	missense	probably benign	0.00
R8512:Celsr2	UTSW	3	108,321,154 (GRCm39)	missense	probably damaging	1.00
R8694:Celsr2	UTSW	3	108,314,176 (GRCm39)	missense	probably damaging	1.00
R8772:Celsr2	UTSW	3	108,304,389 (GRCm39)	missense	possibly damaging	0.84
R8843:Celsr2	UTSW	3	108,303,443 (GRCm39)	splice site	probably benign
R8888:Celsr2	UTSW	3	108,320,880 (GRCm39)	missense	possibly damaging	0.95
R8895:Celsr2	UTSW	3	108,320,880 (GRCm39)	missense	possibly damaging	0.95
R8917:Celsr2	UTSW	3	108,303,882 (GRCm39)	missense	probably benign	0.00
R9119:Celsr2	UTSW	3	108,309,288 (GRCm39)	missense	possibly damaging	0.90
R9169:Celsr2	UTSW	3	108,309,862 (GRCm39)	missense	probably benign	0.04
R9209:Celsr2	UTSW	3	108,321,349 (GRCm39)	missense	probably benign	0.02
R9342:Celsr2	UTSW	3	108,320,442 (GRCm39)	missense	probably damaging	1.00
R9416:Celsr2	UTSW	3	108,322,084 (GRCm39)	missense	probably damaging	0.96
R9493:Celsr2	UTSW	3	108,301,074 (GRCm39)	missense	probably damaging	1.00
R9564:Celsr2	UTSW	3	108,321,834 (GRCm39)	missense	probably damaging	1.00
R9598:Celsr2	UTSW	3	108,322,578 (GRCm39)	missense	possibly damaging	0.72
R9629:Celsr2	UTSW	3	108,308,915 (GRCm39)	missense	probably damaging	1.00
R9691:Celsr2	UTSW	3	108,301,551 (GRCm39)	missense	probably damaging	1.00
X0020:Celsr2	UTSW	3	108,303,426 (GRCm39)	missense	probably damaging	1.00
X0050:Celsr2	UTSW	3	108,308,588 (GRCm39)	missense	probably benign	0.09
Z1088:Celsr2	UTSW	3	108,321,433 (GRCm39)	missense	probably damaging	1.00
Z1176:Celsr2	UTSW	3	108,319,657 (GRCm39)	missense	probably benign	0.07
Z1176:Celsr2	UTSW	3	108,300,447 (GRCm39)	missense	probably benign	0.10
Z1177:Celsr2	UTSW	3	108,320,887 (GRCm39)	missense	probably benign	0.32
Z1177:Celsr2	UTSW	3	108,319,536 (GRCm39)	missense	probably damaging	1.00
Z1191:Celsr2	UTSW	3	108,321,865 (GRCm39)	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- ACCTCAGGCTACGCTTATCG -3'
(R):5'- TCATCTCTGTAGTGCGCCTG -3'

Sequencing Primer
(F):5'- CTACGCTTATCGGGGTCATAG -3'
(R):5'- AACTTTGCTGGGACCAAGCTG -3'

Posted On

2015-03-18