Mutagenetix > Incidental Mutation

Incidental Mutation 'F6893:Celsr3'

224

Institutional Source

Beutler Lab

Gene Symbol

Celsr3

Ensembl Gene

ENSMUSG00000023473

Gene Name

cadherin, EGF LAG seven-pass G-type receptor 3

Synonyms

Fmi1, flamingo, Adgrc3

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

F6893 (G3) of strain busy

Quality Score

Status

Validated

Chromosome

Chromosomal Location

108703519-108730168 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 108712266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 1731 (R1731H)

Ref Sequence

ENSEMBL: ENSMUSP00000150759 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000024238
AA Change: R1729H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000024238
Gene: ENSMUSG00000023473
AA Change: R1729H

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: ENSMUST00000193726

Predicted Effect

probably benign
Transcript: ENSMUST00000213524
AA Change: R1731H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.1796

Coding Region Coverage

1x: 88.7%
3x: 74.0%

Validation Efficiency

88% (165/188)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	A	7: 119,924,261 (GRCm39)	V1638M	probably damaging	Het
Agrn	C	T	4: 156,258,636 (GRCm39)	R972Q	probably benign	Het
Anxa3	T	C	5: 96,972,853 (GRCm39)		probably benign	Het
Bpifa6	G	T	2: 153,829,078 (GRCm39)	D202Y	probably damaging	Het
Ccdc15	G	A	9: 37,226,936 (GRCm39)	T346I	probably damaging	Homo
Ces4a	A	G	8: 105,873,859 (GRCm39)	R443G	possibly damaging	Het
Chd2	T	C	7: 73,157,620 (GRCm39)	Q175R	possibly damaging	Het
Dpyd	T	A	3: 118,597,783 (GRCm39)		probably null	Het
Dscam	G	T	16: 96,857,660 (GRCm39)	H117N	possibly damaging	Het
F13a1	A	G	13: 37,155,999 (GRCm39)	Y205H	probably damaging	Het
Fat3	A	C	9: 15,918,085 (GRCm39)	L1446R	probably damaging	Homo
Golga4	T	C	9: 118,382,525 (GRCm39)	L515S	probably damaging	Het
Hoxb1	A	T	11: 96,256,728 (GRCm39)	T26S	probably benign	Het
Igsf10	T	G	3: 59,238,481 (GRCm39)	T567P	probably damaging	Het
Lamb2	T	C	9: 108,359,755 (GRCm39)	V365A	probably benign	Het
Mepe	A	G	5: 104,485,242 (GRCm39)	I127M	possibly damaging	Het
Mpi	A	T	9: 57,453,832 (GRCm39)	M230K	probably benign	Homo
Myh4	A	G	11: 67,146,283 (GRCm39)	D1447G	probably null	Homo
Or1f19	A	G	16: 3,411,027 (GRCm39)	I256V	possibly damaging	Het
Or1j4	A	G	2: 36,740,819 (GRCm39)	T254A	probably benign	Het
Panx2	T	C	15: 88,952,213 (GRCm39)	Y227H	probably damaging	Homo
Pdzd7	A	G	19: 45,025,173 (GRCm39)	W441R	probably damaging	Het
Poldip2	A	G	11: 78,410,020 (GRCm39)	I267M	probably damaging	Homo
Pros1	T	A	16: 62,745,002 (GRCm39)	V539E	probably damaging	Het
Sacs	T	C	14: 61,450,425 (GRCm39)	M4157T	probably benign	Het
Slc45a3	A	G	1: 131,909,075 (GRCm39)	E424G	probably benign	Homo
Slc9a1	A	G	4: 133,149,457 (GRCm39)	E761G	probably benign	Homo
Stab2	G	A	10: 86,691,035 (GRCm39)	P2178L	probably damaging	Het
Syt4	C	T	18: 31,577,274 (GRCm39)	V27I	possibly damaging	Homo
Thumpd1	T	A	7: 119,319,799 (GRCm39)	K56*	probably null	Het
Tpr	A	G	1: 150,269,313 (GRCm39)	K19E	possibly damaging	Homo
Ttll10	A	G	4: 156,132,775 (GRCm39)	I74T	probably benign	Het
Txnrd1	C	T	10: 82,702,823 (GRCm39)	Q95*	probably null	Homo
Zc3h7b	A	G	15: 81,662,872 (GRCm39)	E421G	possibly damaging	Homo
Zc3hc1	G	T	6: 30,387,525 (GRCm39)	D51E	probably benign	Homo

Other mutations in Celsr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Celsr3	APN	9	108,726,124 (GRCm39)	missense	probably damaging	1.00
IGL00536:Celsr3	APN	9	108,706,391 (GRCm39)	missense	probably benign	0.33
IGL00552:Celsr3	APN	9	108,718,462 (GRCm39)	missense	possibly damaging	0.88
IGL00801:Celsr3	APN	9	108,719,775 (GRCm39)	missense	probably benign
IGL01420:Celsr3	APN	9	108,718,389 (GRCm39)	critical splice acceptor site	probably null
IGL01541:Celsr3	APN	9	108,708,907 (GRCm39)	missense	probably damaging	1.00
IGL01619:Celsr3	APN	9	108,711,756 (GRCm39)	missense	probably damaging	1.00
IGL01619:Celsr3	APN	9	108,714,603 (GRCm39)	missense	probably benign	0.00
IGL01631:Celsr3	APN	9	108,714,603 (GRCm39)	missense	probably benign	0.00
IGL01777:Celsr3	APN	9	108,713,141 (GRCm39)	missense	probably benign	0.08
IGL01938:Celsr3	APN	9	108,705,614 (GRCm39)	missense	probably benign	0.34
IGL02135:Celsr3	APN	9	108,704,755 (GRCm39)	missense	probably benign	0.11
IGL02231:Celsr3	APN	9	108,719,709 (GRCm39)	missense	probably damaging	1.00
IGL02234:Celsr3	APN	9	108,707,159 (GRCm39)	missense	probably benign
IGL02392:Celsr3	APN	9	108,711,920 (GRCm39)	splice site	probably benign
IGL02416:Celsr3	APN	9	108,709,318 (GRCm39)	missense	probably damaging	1.00
IGL02421:Celsr3	APN	9	108,717,662 (GRCm39)	missense	probably damaging	1.00
IGL02455:Celsr3	APN	9	108,720,092 (GRCm39)	missense	probably benign	0.15
IGL02798:Celsr3	APN	9	108,720,774 (GRCm39)	missense	probably damaging	1.00
IGL02939:Celsr3	APN	9	108,726,652 (GRCm39)	missense	probably damaging	1.00
IGL02947:Celsr3	APN	9	108,723,134 (GRCm39)	missense	probably benign	0.12
IGL02986:Celsr3	APN	9	108,718,454 (GRCm39)	splice site	probably null
IGL03089:Celsr3	APN	9	108,703,806 (GRCm39)	missense	probably benign	0.04
IGL03162:Celsr3	APN	9	108,719,757 (GRCm39)	missense	probably damaging	1.00
IGL03267:Celsr3	APN	9	108,713,724 (GRCm39)	splice site	probably benign
Diminishment	UTSW	9	108,719,907 (GRCm39)	intron	probably benign
little_d	UTSW	9	108,704,891 (GRCm39)	missense	probably damaging	0.98
nogal	UTSW	9	108,713,037 (GRCm39)	missense	probably benign
PIT4243001:Celsr3	UTSW	9	108,709,507 (GRCm39)	missense	probably benign	0.13
PIT4810001:Celsr3	UTSW	9	108,722,932 (GRCm39)	missense	probably damaging	1.00
R0110:Celsr3	UTSW	9	108,704,204 (GRCm39)	missense	possibly damaging	0.62
R0243:Celsr3	UTSW	9	108,720,923 (GRCm39)	splice site	probably benign
R0382:Celsr3	UTSW	9	108,706,417 (GRCm39)	missense	probably damaging	1.00
R0482:Celsr3	UTSW	9	108,706,272 (GRCm39)	nonsense	probably null
R0510:Celsr3	UTSW	9	108,704,204 (GRCm39)	missense	possibly damaging	0.62
R0630:Celsr3	UTSW	9	108,704,891 (GRCm39)	missense	probably damaging	0.98
R0656:Celsr3	UTSW	9	108,711,854 (GRCm39)	missense	possibly damaging	0.89
R0764:Celsr3	UTSW	9	108,705,017 (GRCm39)	missense	probably damaging	1.00
R0883:Celsr3	UTSW	9	108,719,832 (GRCm39)	missense	probably damaging	1.00
R0924:Celsr3	UTSW	9	108,723,224 (GRCm39)	missense	possibly damaging	0.78
R1015:Celsr3	UTSW	9	108,710,375 (GRCm39)	missense	probably benign	0.17
R1321:Celsr3	UTSW	9	108,713,069 (GRCm39)	missense	probably damaging	1.00
R1423:Celsr3	UTSW	9	108,704,104 (GRCm39)	missense	probably benign	0.00
R1497:Celsr3	UTSW	9	108,726,064 (GRCm39)	missense	probably benign	0.14
R1520:Celsr3	UTSW	9	108,725,857 (GRCm39)	missense	probably damaging	1.00
R1534:Celsr3	UTSW	9	108,726,083 (GRCm39)	missense	probably damaging	0.99
R1569:Celsr3	UTSW	9	108,706,267 (GRCm39)	missense	probably damaging	1.00
R1657:Celsr3	UTSW	9	108,720,151 (GRCm39)	nonsense	probably null
R1753:Celsr3	UTSW	9	108,709,056 (GRCm39)	missense	probably damaging	0.99
R1764:Celsr3	UTSW	9	108,706,157 (GRCm39)	missense	probably damaging	1.00
R1801:Celsr3	UTSW	9	108,711,825 (GRCm39)	missense	possibly damaging	0.88
R1838:Celsr3	UTSW	9	108,707,105 (GRCm39)	missense	probably benign
R1839:Celsr3	UTSW	9	108,707,105 (GRCm39)	missense	probably benign
R1874:Celsr3	UTSW	9	108,713,037 (GRCm39)	missense	probably benign
R1875:Celsr3	UTSW	9	108,713,037 (GRCm39)	missense	probably benign
R1953:Celsr3	UTSW	9	108,720,381 (GRCm39)	missense	probably benign	0.19
R1960:Celsr3	UTSW	9	108,723,016 (GRCm39)	missense	probably benign
R2113:Celsr3	UTSW	9	108,715,669 (GRCm39)	missense	probably damaging	1.00
R2290:Celsr3	UTSW	9	108,720,423 (GRCm39)	missense	probably damaging	1.00
R2369:Celsr3	UTSW	9	108,719,751 (GRCm39)	missense	probably benign
R2373:Celsr3	UTSW	9	108,719,751 (GRCm39)	missense	probably benign
R2374:Celsr3	UTSW	9	108,719,751 (GRCm39)	missense	probably benign
R2375:Celsr3	UTSW	9	108,719,751 (GRCm39)	missense	probably benign
R2844:Celsr3	UTSW	9	108,706,507 (GRCm39)	missense	probably damaging	1.00
R2968:Celsr3	UTSW	9	108,709,390 (GRCm39)	missense	probably damaging	1.00
R3103:Celsr3	UTSW	9	108,714,338 (GRCm39)	missense	probably benign	0.31
R3159:Celsr3	UTSW	9	108,704,909 (GRCm39)	missense	possibly damaging	0.94
R3791:Celsr3	UTSW	9	108,719,751 (GRCm39)	missense	probably benign
R4194:Celsr3	UTSW	9	108,720,501 (GRCm39)	critical splice donor site	probably null
R4329:Celsr3	UTSW	9	108,723,248 (GRCm39)	missense	probably benign	0.00
R4365:Celsr3	UTSW	9	108,707,046 (GRCm39)	missense	possibly damaging	0.47
R4419:Celsr3	UTSW	9	108,720,443 (GRCm39)	missense	possibly damaging	0.84
R4484:Celsr3	UTSW	9	108,723,262 (GRCm39)	critical splice donor site	probably null
R4582:Celsr3	UTSW	9	108,722,922 (GRCm39)	missense	probably damaging	1.00
R4681:Celsr3	UTSW	9	108,704,953 (GRCm39)	missense	possibly damaging	0.58
R4729:Celsr3	UTSW	9	108,724,851 (GRCm39)	missense	probably benign	0.05
R4881:Celsr3	UTSW	9	108,721,140 (GRCm39)	missense	probably damaging	1.00
R4893:Celsr3	UTSW	9	108,726,620 (GRCm39)	missense	probably damaging	1.00
R5183:Celsr3	UTSW	9	108,714,759 (GRCm39)	missense	probably damaging	0.99
R5207:Celsr3	UTSW	9	108,709,958 (GRCm39)	missense	probably benign	0.01
R5290:Celsr3	UTSW	9	108,720,357 (GRCm39)	missense	probably benign	0.01
R5327:Celsr3	UTSW	9	108,719,907 (GRCm39)	intron	probably benign
R5345:Celsr3	UTSW	9	108,709,323 (GRCm39)	missense	probably damaging	1.00
R5358:Celsr3	UTSW	9	108,709,224 (GRCm39)	missense	possibly damaging	0.96
R5396:Celsr3	UTSW	9	108,705,781 (GRCm39)	missense	probably damaging	1.00
R5414:Celsr3	UTSW	9	108,717,241 (GRCm39)	missense	possibly damaging	0.88
R5452:Celsr3	UTSW	9	108,721,233 (GRCm39)	missense	possibly damaging	0.68
R5467:Celsr3	UTSW	9	108,705,836 (GRCm39)	missense	probably damaging	1.00
R5479:Celsr3	UTSW	9	108,721,743 (GRCm39)	critical splice donor site	probably null
R5629:Celsr3	UTSW	9	108,726,266 (GRCm39)	missense	probably benign	0.41
R5637:Celsr3	UTSW	9	108,714,332 (GRCm39)	missense	probably damaging	1.00
R5652:Celsr3	UTSW	9	108,715,671 (GRCm39)	missense	probably benign	0.03
R5739:Celsr3	UTSW	9	108,704,357 (GRCm39)	missense	probably benign
R5785:Celsr3	UTSW	9	108,704,996 (GRCm39)	missense	probably damaging	1.00
R5877:Celsr3	UTSW	9	108,722,926 (GRCm39)	missense	probably damaging	0.98
R5961:Celsr3	UTSW	9	108,708,993 (GRCm39)	missense	probably damaging	1.00
R6046:Celsr3	UTSW	9	108,714,350 (GRCm39)	missense	probably benign	0.01
R6176:Celsr3	UTSW	9	108,705,554 (GRCm39)	missense	probably damaging	1.00
R6291:Celsr3	UTSW	9	108,706,041 (GRCm39)	missense	probably damaging	1.00
R6468:Celsr3	UTSW	9	108,712,989 (GRCm39)	missense	probably benign	0.08
R6481:Celsr3	UTSW	9	108,714,283 (GRCm39)	missense	possibly damaging	0.92
R6547:Celsr3	UTSW	9	108,706,327 (GRCm39)	missense	probably damaging	1.00
R6763:Celsr3	UTSW	9	108,704,549 (GRCm39)	missense	probably damaging	1.00
R6870:Celsr3	UTSW	9	108,706,390 (GRCm39)	missense	probably benign	0.02
R6977:Celsr3	UTSW	9	108,704,914 (GRCm39)	missense	probably benign
R7061:Celsr3	UTSW	9	108,724,793 (GRCm39)	nonsense	probably null
R7122:Celsr3	UTSW	9	108,705,766 (GRCm39)	missense	possibly damaging	0.90
R7156:Celsr3	UTSW	9	108,715,203 (GRCm39)	missense	possibly damaging	0.95
R7166:Celsr3	UTSW	9	108,720,150 (GRCm39)	missense	probably damaging	1.00
R7176:Celsr3	UTSW	9	108,722,961 (GRCm39)	missense	probably benign
R7213:Celsr3	UTSW	9	108,726,239 (GRCm39)	missense	probably damaging	0.98
R7314:Celsr3	UTSW	9	108,706,343 (GRCm39)	missense	probably damaging	1.00
R7478:Celsr3	UTSW	9	108,720,777 (GRCm39)	missense	probably benign	0.37
R7508:Celsr3	UTSW	9	108,713,821 (GRCm39)	missense	probably benign
R7554:Celsr3	UTSW	9	108,718,408 (GRCm39)	missense	probably benign
R7615:Celsr3	UTSW	9	108,714,851 (GRCm39)	missense	possibly damaging	0.75
R7653:Celsr3	UTSW	9	108,712,269 (GRCm39)	nonsense	probably null
R7747:Celsr3	UTSW	9	108,707,177 (GRCm39)	missense	possibly damaging	0.61
R7881:Celsr3	UTSW	9	108,705,271 (GRCm39)	missense	probably benign	0.28
R7935:Celsr3	UTSW	9	108,706,840 (GRCm39)	missense	probably benign	0.01
R7995:Celsr3	UTSW	9	108,722,282 (GRCm39)	missense	probably damaging	0.99
R8006:Celsr3	UTSW	9	108,706,306 (GRCm39)	missense	probably damaging	1.00
R8077:Celsr3	UTSW	9	108,705,530 (GRCm39)	missense	probably benign	0.15
R8284:Celsr3	UTSW	9	108,723,612 (GRCm39)	missense	probably damaging	0.99
R8291:Celsr3	UTSW	9	108,715,169 (GRCm39)	missense	probably damaging	1.00
R8322:Celsr3	UTSW	9	108,725,993 (GRCm39)	missense	probably damaging	1.00
R8334:Celsr3	UTSW	9	108,718,471 (GRCm39)	frame shift	probably null
R8337:Celsr3	UTSW	9	108,718,471 (GRCm39)	frame shift	probably null
R8338:Celsr3	UTSW	9	108,704,539 (GRCm39)	nonsense	probably null
R8353:Celsr3	UTSW	9	108,703,734 (GRCm39)	missense	probably benign	0.00
R8407:Celsr3	UTSW	9	108,706,256 (GRCm39)	missense	probably damaging	1.00
R8408:Celsr3	UTSW	9	108,708,988 (GRCm39)	missense	probably damaging	1.00
R8459:Celsr3	UTSW	9	108,706,829 (GRCm39)	missense	probably damaging	1.00
R8510:Celsr3	UTSW	9	108,715,319 (GRCm39)	missense	possibly damaging	0.93
R8713:Celsr3	UTSW	9	108,707,062 (GRCm39)	missense	probably benign
R8728:Celsr3	UTSW	9	108,723,940 (GRCm39)	missense	probably benign	0.24
R8829:Celsr3	UTSW	9	108,717,582 (GRCm39)	missense	probably benign
R8877:Celsr3	UTSW	9	108,706,877 (GRCm39)	missense	probably damaging	1.00
R8905:Celsr3	UTSW	9	108,718,501 (GRCm39)	missense	probably damaging	1.00
R9008:Celsr3	UTSW	9	108,706,151 (GRCm39)	missense	possibly damaging	0.94
R9072:Celsr3	UTSW	9	108,704,293 (GRCm39)	missense	probably benign
R9157:Celsr3	UTSW	9	108,707,185 (GRCm39)	missense	probably damaging	1.00
R9183:Celsr3	UTSW	9	108,706,595 (GRCm39)	missense	probably damaging	1.00
R9275:Celsr3	UTSW	9	108,715,689 (GRCm39)	missense	probably benign	0.27
R9361:Celsr3	UTSW	9	108,726,521 (GRCm39)	missense	probably damaging	1.00
R9382:Celsr3	UTSW	9	108,706,961 (GRCm39)	missense	possibly damaging	0.60
R9407:Celsr3	UTSW	9	108,723,596 (GRCm39)	missense	probably damaging	1.00
R9432:Celsr3	UTSW	9	108,726,032 (GRCm39)	missense	probably benign	0.00
R9607:Celsr3	UTSW	9	108,717,701 (GRCm39)	critical splice donor site	probably null
R9626:Celsr3	UTSW	9	108,726,521 (GRCm39)	missense	probably damaging	1.00
R9628:Celsr3	UTSW	9	108,703,559 (GRCm39)	nonsense	probably null
R9630:Celsr3	UTSW	9	108,704,296 (GRCm39)	missense	probably benign
R9645:Celsr3	UTSW	9	108,704,691 (GRCm39)	nonsense	probably null
R9683:Celsr3	UTSW	9	108,704,522 (GRCm39)	missense	probably damaging	1.00
R9794:Celsr3	UTSW	9	108,728,502 (GRCm39)	missense	probably benign	0.00
R9798:Celsr3	UTSW	9	108,705,794 (GRCm39)	missense	probably damaging	1.00
RF020:Celsr3	UTSW	9	108,726,256 (GRCm39)	missense	probably benign
X0018:Celsr3	UTSW	9	108,717,611 (GRCm39)	missense	probably benign	0.01
X0018:Celsr3	UTSW	9	108,704,977 (GRCm39)	missense	possibly damaging	0.65
X0026:Celsr3	UTSW	9	108,706,129 (GRCm39)	missense	probably damaging	0.99
Z1177:Celsr3	UTSW	9	108,703,676 (GRCm39)	missense	probably benign	0.34

Nature of Mutation

DNA sequencing using the SOLiD technique identified a G to A transversion at position 5186 of the Celsr3 transcript in exon 8 of 35 total exons. The mutated nucleotide causes an arginine to histidine substitution at amino acid 1729 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction

The Celsr3 gene encodes a 3301 amino acid multi-pass membrane protein that is expressed in the central nervous system (CNS) and the eye. The protein is a member of the G-protein coupled receptor (GPCR) 2 family and is required cell/cell signaling during nervous system development. The CELSR3 protein contains nine cadherin domains, seven calcium-binding EGF-like domains, one GPS (GPCR proteolytic site) domain, one laminin EGF-like domain and two laminin G-like domains (Uniprot Q91ZI0). Mice homozygous for a null allele exhibit neonatal lethality, abnormal nervous system development, and abnormal respiratory system development.

The R1729H change occurs in the fourth EGF-like domain, and is predicted to be possibly damaging by the PolyPhen program.

Posted On

2010-05-06