Mutagenetix > Incidental Mutation

Incidental Mutation 'R5052:Celsr2'

455746

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

042642-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5052 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

108298167-108323383 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108319674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1046 (I1046T)

Ref Sequence

ENSEMBL: ENSMUSP00000088046 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000090558
AA Change: I1046T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088046
Gene: ENSMUSG00000068740
AA Change: I1046T

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

Meta Mutation Damage Score

0.8137

Coding Region Coverage

1x: 99.1%
3x: 98.0%
10x: 94.8%
20x: 86.2%

Validation Efficiency

100% (58/58)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd3	A	T	3: 121,563,162 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,676,940 (GRCm39)	T1964A	probably damaging	Het
Agbl5	C	T	5: 31,048,558 (GRCm39)	T210I	possibly damaging	Het
Ak5	T	C	3: 152,366,204 (GRCm39)	T66A	probably benign	Het
Aktip	G	A	8: 91,856,279 (GRCm39)	T66I	possibly damaging	Het
Aldh1l2	T	C	10: 83,344,556 (GRCm39)	Y330C	possibly damaging	Het
Btbd19	T	G	4: 116,979,454 (GRCm39)	K122Q	possibly damaging	Het
Cd180	A	G	13: 102,841,403 (GRCm39)	T150A	probably benign	Het
Cep170	C	T	1: 176,621,117 (GRCm39)	R20Q	probably damaging	Het
Cercam	T	A	2: 29,765,639 (GRCm39)	N260K	probably damaging	Het
Cfh	T	A	1: 140,071,782 (GRCm39)	H284L	probably damaging	Het
Chmp5	A	G	4: 40,948,608 (GRCm39)	M1V	probably null	Het
Elp3	A	T	14: 65,815,389 (GRCm39)	I220N	probably damaging	Het
Esyt2	A	G	12: 116,331,416 (GRCm39)	T765A	probably damaging	Het
Evi5l	T	C	8: 4,256,019 (GRCm39)		probably benign	Het
Gm5866	T	G	5: 52,740,234 (GRCm39)		noncoding transcript	Het
Grik1	C	A	16: 87,746,986 (GRCm39)	G417V	probably benign	Het
Gtpbp1	T	G	15: 79,600,170 (GRCm39)	I399R	probably damaging	Het
Il17rc	T	C	6: 113,449,284 (GRCm39)	C14R	probably damaging	Het
Ipo9	T	C	1: 135,316,349 (GRCm39)		probably null	Het
Kazn	G	A	4: 141,845,514 (GRCm39)		probably benign	Het
Map3k15	T	C	X: 158,771,742 (GRCm39)	V105A	possibly damaging	Het
Mitf	A	G	6: 97,987,406 (GRCm39)	T320A	possibly damaging	Het
Ncapd3	T	G	9: 26,963,015 (GRCm39)	L440R	probably damaging	Het
Nrxn2	C	G	19: 6,505,234 (GRCm39)	A359G	probably damaging	Het
P2rx3	T	G	2: 84,829,368 (GRCm39)	I371L	probably benign	Het
Pde1b	C	A	15: 103,436,075 (GRCm39)	Q493K	possibly damaging	Het
Ptpn13	T	C	5: 103,709,846 (GRCm39)	F1503S	probably damaging	Het
Ptprz1	T	G	6: 23,045,625 (GRCm39)	W1283G	probably damaging	Het
Rasd2	T	A	8: 75,948,564 (GRCm39)	D163E	possibly damaging	Het
Rgs11	A	G	17: 26,426,947 (GRCm39)		probably benign	Het
Scap	T	C	9: 110,182,220 (GRCm39)	I37T	possibly damaging	Het
Sgms2	C	T	3: 131,124,005 (GRCm39)	V232M	probably benign	Het
Slc25a54	A	G	3: 109,010,016 (GRCm39)	I172V	probably benign	Het
Sympk	C	T	7: 18,769,967 (GRCm39)	R215C	probably benign	Het
Tacc2	T	A	7: 130,336,744 (GRCm39)	D171E	probably damaging	Het
Tmco4	A	G	4: 138,785,817 (GRCm39)	E629G	probably benign	Het
Trav7-1	T	G	14: 52,892,765 (GRCm39)	L106R	possibly damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Utf1	T	C	7: 139,524,814 (GRCm39)		probably benign	Het
Zdhhc13	A	G	7: 48,474,479 (GRCm39)	N577S	possibly damaging	Het
Zmym6	A	G	4: 127,017,767 (GRCm39)	N1183D	possibly 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
R3723:Celsr2	UTSW	3	108,304,731 (GRCm39)	splice site	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
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'- CAACATCACTGGGCATCTTCC -3'
(R):5'- CTGCCCTGGTAGATTTGGAC -3'

Sequencing Primer
(F):5'- GGCATCTTCCTTACCTGACACCAG -3'
(R):5'- ATTTGGACTATGAGGACCGGCC -3'

Posted On

2017-02-13