Mutagenetix > Incidental Mutation

Incidental Mutation 'R8791:Cplane1'

670961

Institutional Source

Beutler Lab

Gene Symbol

Cplane1

Ensembl Gene

ENSMUSG00000039801

Gene Name

ciliogenesis and planar polarity effector 1

Synonyms

Hug, 2410089E03Rik, b2b012Clo, Jbts17

MMRRC Submission

068609-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8791 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8198590-8300642 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8216744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 654 (Y654C)

Ref Sequence

ENSEMBL: ENSMUSP00000106247 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110617]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000110617
AA Change: Y654C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106247
Gene: ENSMUSG00000039801
AA Change: Y654C

Domain	Start	End	E-Value	Type
low complexity region	144	157	N/A	INTRINSIC
low complexity region	338	352	N/A	INTRINSIC
low complexity region	466	476	N/A	INTRINSIC
low complexity region	868	883	N/A	INTRINSIC
low complexity region	949	962	N/A	INTRINSIC
low complexity region	1400	1415	N/A	INTRINSIC
low complexity region	1449	1464	N/A	INTRINSIC
low complexity region	1827	1838	N/A	INTRINSIC
low complexity region	1919	1930	N/A	INTRINSIC
low complexity region	2130	2145	N/A	INTRINSIC
coiled coil region	2750	2782	N/A	INTRINSIC
low complexity region	2838	2850	N/A	INTRINSIC
Pfam:Joubert	2894	3207	1.9e-136	PFAM

Meta Mutation Damage Score

0.2416

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (47/47)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012]
PHENOTYPE: Homozygotes exhibit double outlet right ventricle {SDD}, pulmonary atresia/hypolastic pulmonary artery, atrioventricular septal defect, and right aortic arch. Non-cardiovascular defects include cleft palate, polydactyly, transparent chest wall (sternal bone hypoplasia) and hypoplastic lungs. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931422A03Rik	G	T	2: 103,823,022 (GRCm39)	T87K	possibly damaging	Het
Adar	G	A	3: 89,643,445 (GRCm39)	R442Q	probably benign	Het
Agtr1b	T	A	3: 20,370,280 (GRCm39)	S109C	probably damaging	Het
Akr1c6	T	A	13: 4,499,373 (GRCm39)	Y248N	probably benign	Het
Alpk2	A	T	18: 65,438,597 (GRCm39)	V932E	probably benign	Het
Apba3	T	A	10: 81,105,104 (GRCm39)	S126T	probably benign	Het
Brca2	T	A	5: 150,466,061 (GRCm39)	S1942T	possibly damaging	Het
Ccdc149	C	T	5: 52,596,552 (GRCm39)	C20Y	probably damaging	Het
Cd63	C	A	10: 128,748,071 (GRCm39)	N156K	probably benign	Het
Clvs1	A	G	4: 9,429,807 (GRCm39)	E270G	probably damaging	Het
Dgki	A	T	6: 36,996,875 (GRCm39)	D574E	probably damaging	Het
Esrrb	A	G	12: 86,517,056 (GRCm39)	S63G	probably damaging	Het
Exoc1	C	T	5: 76,683,412 (GRCm39)	R46C	probably damaging	Het
Fcgr4	C	A	1: 170,847,477 (GRCm39)	A25D	probably damaging	Het
Fgf4	T	C	7: 144,415,408 (GRCm39)	V56A	probably benign	Het
Gfpt2	A	G	11: 49,714,043 (GRCm39)	I267V	probably benign	Het
Gm20939	A	C	17: 95,184,648 (GRCm39)	H432P	probably damaging	Het
Gpr179	A	T	11: 97,242,739 (GRCm39)	L35Q	probably damaging	Het
Idh1	CA	CAA	1: 65,204,347 (GRCm39)		probably null	Het
Ildr1	T	C	16: 36,528,762 (GRCm39)	I69T	probably damaging	Het
Lrfn1	A	G	7: 28,159,344 (GRCm39)	D421G	probably benign	Het
Mmp15	C	T	8: 96,096,288 (GRCm39)	Q360*	probably null	Het
Nfatc2	T	C	2: 168,378,214 (GRCm39)	K484E	probably damaging	Het
Nkpd1	G	C	7: 19,258,095 (GRCm39)	V625L	probably benign	Het
Nlrp4a	C	A	7: 26,143,561 (GRCm39)		probably benign	Het
Nme9	T	A	9: 99,350,301 (GRCm39)	I178N	probably damaging	Het
Nrp2	C	T	1: 62,788,356 (GRCm39)	T352I	probably damaging	Het
Ntrk1	T	C	3: 87,686,990 (GRCm39)	I723V	probably damaging	Het
Or5p50	C	T	7: 107,422,557 (GRCm39)	V40M	possibly damaging	Het
Pias3	C	A	3: 96,612,201 (GRCm39)	Q553K	probably benign	Het
Pnp2	T	G	14: 51,200,873 (GRCm39)	H119Q	probably benign	Het
Rapgef6	T	A	11: 54,459,295 (GRCm39)	D156E	probably benign	Het
Rint1	T	C	5: 24,005,594 (GRCm39)	V92A	probably damaging	Het
Rnf148	A	T	6: 23,654,993 (GRCm39)	M1K	probably null	Het
Rnh1	C	T	7: 140,742,346 (GRCm39)	R404H	probably benign	Het
Slc4a8	T	C	15: 100,705,134 (GRCm39)	V832A	possibly damaging	Het
Snx31	A	T	15: 36,537,678 (GRCm39)	C167S	probably benign	Het
Spart	A	G	3: 55,029,100 (GRCm39)	D297G	probably benign	Het
Spata13	C	T	14: 60,929,275 (GRCm39)	R278C	probably damaging	Het
Tmc1	T	C	19: 20,767,209 (GRCm39)	T716A	probably benign	Het
Tpi1	A	G	6: 124,789,483 (GRCm39)	V164A	probably damaging	Het
Trim17	A	G	11: 58,862,002 (GRCm39)	S345G	probably benign	Het
Vmn1r199	T	A	13: 22,567,687 (GRCm39)	L327Q	probably damaging	Het
Washc4	C	T	10: 83,386,748 (GRCm39)	T124I	probably benign	Het
Wdr76	C	T	2: 121,357,484 (GRCm39)	T180I	probably benign	Het
Zcchc8	T	C	5: 123,845,362 (GRCm39)	N333D	probably benign	Het
Zfp516	T	C	18: 82,975,460 (GRCm39)	S553P	probably damaging	Het

Other mutations in Cplane1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00756:Cplane1	APN	15	8,293,931 (GRCm39)	splice site	probably benign
IGL00766:Cplane1	APN	15	8,281,648 (GRCm39)	missense	unknown
IGL01483:Cplane1	APN	15	8,216,591 (GRCm39)	missense	probably damaging	0.98
IGL01520:Cplane1	APN	15	8,251,395 (GRCm39)	missense	probably damaging	0.96
IGL01578:Cplane1	APN	15	8,300,194 (GRCm39)	missense	unknown
IGL01701:Cplane1	APN	15	8,232,741 (GRCm39)	splice site	probably benign
IGL01892:Cplane1	APN	15	8,271,749 (GRCm39)	splice site	probably benign
IGL01895:Cplane1	APN	15	8,258,591 (GRCm39)	missense	possibly damaging	0.63
IGL01922:Cplane1	APN	15	8,300,305 (GRCm39)	missense	unknown
IGL01978:Cplane1	APN	15	8,248,866 (GRCm39)	missense	probably damaging	0.98
IGL02031:Cplane1	APN	15	8,209,253 (GRCm39)	missense	probably damaging	0.99
IGL02318:Cplane1	APN	15	8,204,509 (GRCm39)	missense	probably damaging	0.98
IGL02321:Cplane1	APN	15	8,246,056 (GRCm39)	missense	probably benign	0.04
IGL02363:Cplane1	APN	15	8,247,921 (GRCm39)	missense	possibly damaging	0.68
IGL02404:Cplane1	APN	15	8,216,768 (GRCm39)	missense	possibly damaging	0.48
IGL02535:Cplane1	APN	15	8,204,322 (GRCm39)	missense	probably damaging	1.00
IGL02732:Cplane1	APN	15	8,209,375 (GRCm39)	missense	probably benign	0.03
IGL02895:Cplane1	APN	15	8,261,591 (GRCm39)	splice site	probably benign
IGL02903:Cplane1	APN	15	8,299,262 (GRCm39)	missense	unknown
IGL02903:Cplane1	APN	15	8,299,263 (GRCm39)	missense	unknown
IGL02979:Cplane1	APN	15	8,248,038 (GRCm39)	missense	possibly damaging	0.82
IGL03077:Cplane1	APN	15	8,242,279 (GRCm39)	splice site	probably benign
IGL03196:Cplane1	APN	15	8,230,826 (GRCm39)	missense	probably damaging	0.98
IGL03344:Cplane1	APN	15	8,216,942 (GRCm39)	missense	possibly damaging	0.63
IGL03368:Cplane1	APN	15	8,251,857 (GRCm39)	missense	probably benign	0.06
IGL03403:Cplane1	APN	15	8,230,826 (GRCm39)	missense	probably damaging	0.98
agnes	UTSW	15	8,276,422 (GRCm39)	nonsense	probably null
dei	UTSW	15	8,215,649 (GRCm39)	missense	probably damaging	1.00
R0015:Cplane1	UTSW	15	8,215,668 (GRCm39)	missense	probably damaging	1.00
R0015:Cplane1	UTSW	15	8,215,668 (GRCm39)	missense	probably damaging	1.00
R0101:Cplane1	UTSW	15	8,250,444 (GRCm39)	missense	probably benign	0.00
R0105:Cplane1	UTSW	15	8,216,876 (GRCm39)	missense	probably benign
R0105:Cplane1	UTSW	15	8,216,876 (GRCm39)	missense	probably benign
R0165:Cplane1	UTSW	15	8,245,866 (GRCm39)	missense	probably damaging	1.00
R0306:Cplane1	UTSW	15	8,209,373 (GRCm39)	missense	probably damaging	1.00
R0433:Cplane1	UTSW	15	8,246,046 (GRCm39)	missense	probably benign	0.00
R0491:Cplane1	UTSW	15	8,211,727 (GRCm39)	missense	probably damaging	1.00
R0523:Cplane1	UTSW	15	8,223,870 (GRCm39)	missense	probably damaging	1.00
R0571:Cplane1	UTSW	15	8,289,277 (GRCm39)	missense	unknown
R0679:Cplane1	UTSW	15	8,252,606 (GRCm39)	missense	probably benign	0.39
R0704:Cplane1	UTSW	15	8,239,567 (GRCm39)	missense	possibly damaging	0.93
R0707:Cplane1	UTSW	15	8,287,805 (GRCm39)	missense	unknown
R0715:Cplane1	UTSW	15	8,252,576 (GRCm39)	missense	probably benign	0.14
R0762:Cplane1	UTSW	15	8,247,900 (GRCm39)	unclassified	probably benign
R0830:Cplane1	UTSW	15	8,276,669 (GRCm39)	missense	unknown
R0924:Cplane1	UTSW	15	8,280,554 (GRCm39)	splice site	probably benign
R1071:Cplane1	UTSW	15	8,247,910 (GRCm39)	missense	probably benign	0.20
R1184:Cplane1	UTSW	15	8,245,971 (GRCm39)	missense	probably benign
R1224:Cplane1	UTSW	15	8,207,869 (GRCm39)	missense	probably benign	0.06
R1416:Cplane1	UTSW	15	8,276,422 (GRCm39)	nonsense	probably null
R1428:Cplane1	UTSW	15	8,248,853 (GRCm39)	missense	possibly damaging	0.83
R1487:Cplane1	UTSW	15	8,215,715 (GRCm39)	missense	probably damaging	1.00
R1641:Cplane1	UTSW	15	8,258,443 (GRCm39)	missense	probably benign	0.41
R1652:Cplane1	UTSW	15	8,230,630 (GRCm39)	missense	probably damaging	1.00
R1688:Cplane1	UTSW	15	8,258,093 (GRCm39)	missense	probably benign	0.00
R1715:Cplane1	UTSW	15	8,256,384 (GRCm39)	splice site	probably null
R1820:Cplane1	UTSW	15	8,299,129 (GRCm39)	missense	unknown
R1863:Cplane1	UTSW	15	8,258,077 (GRCm39)	missense	probably benign	0.00
R1940:Cplane1	UTSW	15	8,263,336 (GRCm39)	missense	probably damaging	0.98
R1967:Cplane1	UTSW	15	8,232,904 (GRCm39)	missense	probably benign	0.09
R2064:Cplane1	UTSW	15	8,215,649 (GRCm39)	missense	probably damaging	1.00
R2076:Cplane1	UTSW	15	8,248,741 (GRCm39)	missense	possibly damaging	0.93
R2163:Cplane1	UTSW	15	8,232,735 (GRCm39)	splice site	probably null
R2208:Cplane1	UTSW	15	8,223,887 (GRCm39)	missense	probably benign	0.33
R2504:Cplane1	UTSW	15	8,248,700 (GRCm39)	missense	probably damaging	0.99
R2568:Cplane1	UTSW	15	8,230,753 (GRCm39)	missense	possibly damaging	0.70
R2845:Cplane1	UTSW	15	8,245,864 (GRCm39)	missense	probably damaging	1.00
R2913:Cplane1	UTSW	15	8,300,169 (GRCm39)	missense	unknown
R3056:Cplane1	UTSW	15	8,280,491 (GRCm39)	missense	unknown
R3706:Cplane1	UTSW	15	8,289,300 (GRCm39)	missense	unknown
R3707:Cplane1	UTSW	15	8,289,300 (GRCm39)	missense	unknown
R3870:Cplane1	UTSW	15	8,247,948 (GRCm39)	missense	probably damaging	0.98
R3877:Cplane1	UTSW	15	8,251,427 (GRCm39)	missense	probably benign
R3886:Cplane1	UTSW	15	8,201,289 (GRCm39)	missense	probably damaging	0.98
R4057:Cplane1	UTSW	15	8,248,509 (GRCm39)	missense	probably benign	0.08
R4090:Cplane1	UTSW	15	8,241,842 (GRCm39)	splice site	probably null
R4362:Cplane1	UTSW	15	8,300,229 (GRCm39)	missense	unknown
R4363:Cplane1	UTSW	15	8,300,229 (GRCm39)	missense	unknown
R4445:Cplane1	UTSW	15	8,281,672 (GRCm39)	missense	unknown
R4581:Cplane1	UTSW	15	8,201,282 (GRCm39)	missense	possibly damaging	0.85
R4587:Cplane1	UTSW	15	8,230,636 (GRCm39)	missense	possibly damaging	0.50
R4659:Cplane1	UTSW	15	8,245,760 (GRCm39)	intron	probably benign
R4663:Cplane1	UTSW	15	8,247,939 (GRCm39)	missense	probably benign	0.31
R4779:Cplane1	UTSW	15	8,248,322 (GRCm39)	missense	probably benign	0.04
R4812:Cplane1	UTSW	15	8,230,607 (GRCm39)	splice site	probably null
R4850:Cplane1	UTSW	15	8,292,422 (GRCm39)	missense	unknown
R4896:Cplane1	UTSW	15	8,251,421 (GRCm39)	missense	probably benign	0.00
R5273:Cplane1	UTSW	15	8,292,422 (GRCm39)	missense	unknown
R5273:Cplane1	UTSW	15	8,273,825 (GRCm39)	missense	probably damaging	0.98
R5303:Cplane1	UTSW	15	8,290,174 (GRCm39)	splice site	probably null
R5307:Cplane1	UTSW	15	8,290,174 (GRCm39)	splice site	probably null
R5308:Cplane1	UTSW	15	8,290,174 (GRCm39)	splice site	probably null
R5373:Cplane1	UTSW	15	8,300,287 (GRCm39)	missense	unknown
R5374:Cplane1	UTSW	15	8,300,287 (GRCm39)	missense	unknown
R5386:Cplane1	UTSW	15	8,223,897 (GRCm39)	missense	probably damaging	1.00
R5534:Cplane1	UTSW	15	8,258,319 (GRCm39)	missense	probably benign	0.06
R5720:Cplane1	UTSW	15	8,233,171 (GRCm39)	missense	probably benign	0.35
R5891:Cplane1	UTSW	15	8,218,073 (GRCm39)	missense	probably benign	0.00
R5932:Cplane1	UTSW	15	8,274,079 (GRCm39)	splice site	probably null
R6053:Cplane1	UTSW	15	8,217,945 (GRCm39)	missense	probably benign	0.35
R6166:Cplane1	UTSW	15	8,216,044 (GRCm39)	missense	probably benign	0.00
R6245:Cplane1	UTSW	15	8,207,902 (GRCm39)	missense	probably benign	0.01
R6246:Cplane1	UTSW	15	8,239,498 (GRCm39)	missense	probably damaging	1.00
R6541:Cplane1	UTSW	15	8,248,779 (GRCm39)	missense	possibly damaging	0.48
R6622:Cplane1	UTSW	15	8,273,706 (GRCm39)	missense	probably damaging	0.98
R6707:Cplane1	UTSW	15	8,252,606 (GRCm39)	missense	probably benign	0.39
R6729:Cplane1	UTSW	15	8,218,085 (GRCm39)	splice site	probably null
R6805:Cplane1	UTSW	15	8,273,790 (GRCm39)	missense	probably benign	0.07
R6806:Cplane1	UTSW	15	8,216,342 (GRCm39)	missense	possibly damaging	0.55
R6813:Cplane1	UTSW	15	8,258,766 (GRCm39)	missense	probably benign
R6830:Cplane1	UTSW	15	8,205,668 (GRCm39)	missense	probably benign	0.04
R6845:Cplane1	UTSW	15	8,251,388 (GRCm39)	missense	possibly damaging	0.84
R6894:Cplane1	UTSW	15	8,216,852 (GRCm39)	missense	probably damaging	0.99
R6970:Cplane1	UTSW	15	8,217,032 (GRCm39)	missense	probably benign	0.01
R6991:Cplane1	UTSW	15	8,281,690 (GRCm39)	missense	unknown
R7003:Cplane1	UTSW	15	8,258,246 (GRCm39)	missense	probably damaging	0.99
R7088:Cplane1	UTSW	15	8,248,431 (GRCm39)	missense	probably benign	0.16
R7104:Cplane1	UTSW	15	8,223,928 (GRCm39)	missense	possibly damaging	0.83
R7311:Cplane1	UTSW	15	8,210,399 (GRCm39)	missense	probably damaging	1.00
R7374:Cplane1	UTSW	15	8,276,731 (GRCm39)	missense	unknown
R7446:Cplane1	UTSW	15	8,261,564 (GRCm39)	missense	probably damaging	0.98
R7539:Cplane1	UTSW	15	8,230,728 (GRCm39)	missense	probably benign	0.19
R7543:Cplane1	UTSW	15	8,254,876 (GRCm39)	missense	unknown
R7558:Cplane1	UTSW	15	8,254,851 (GRCm39)	missense	unknown
R7629:Cplane1	UTSW	15	8,256,551 (GRCm39)	nonsense	probably null
R7635:Cplane1	UTSW	15	8,256,404 (GRCm39)	missense	probably benign	0.01
R7644:Cplane1	UTSW	15	8,252,611 (GRCm39)	missense	probably benign	0.00
R7705:Cplane1	UTSW	15	8,211,736 (GRCm39)	missense	probably damaging	1.00
R7752:Cplane1	UTSW	15	8,299,190 (GRCm39)	missense	unknown
R7754:Cplane1	UTSW	15	8,273,310 (GRCm39)	missense	possibly damaging	0.53
R7757:Cplane1	UTSW	15	8,281,711 (GRCm39)	missense	unknown
R7836:Cplane1	UTSW	15	8,233,241 (GRCm39)	missense	probably damaging	0.97
R7875:Cplane1	UTSW	15	8,239,446 (GRCm39)	missense	probably benign	0.18
R7901:Cplane1	UTSW	15	8,299,190 (GRCm39)	missense	unknown
R7983:Cplane1	UTSW	15	8,251,299 (GRCm39)	missense	probably benign	0.01
R8030:Cplane1	UTSW	15	8,259,787 (GRCm39)	missense	probably damaging	1.00
R8088:Cplane1	UTSW	15	8,215,802 (GRCm39)	missense	probably benign	0.00
R8231:Cplane1	UTSW	15	8,248,511 (GRCm39)	missense	probably benign	0.16
R8443:Cplane1	UTSW	15	8,230,635 (GRCm39)	missense	probably benign	0.03
R8480:Cplane1	UTSW	15	8,216,942 (GRCm39)	missense	possibly damaging	0.63
R8693:Cplane1	UTSW	15	8,258,492 (GRCm39)	missense	probably benign	0.15
R8785:Cplane1	UTSW	15	8,204,244 (GRCm39)	missense	probably benign	0.39
R8822:Cplane1	UTSW	15	8,201,262 (GRCm39)	missense	probably damaging	1.00
R8831:Cplane1	UTSW	15	8,211,620 (GRCm39)	missense	probably benign	0.09
R8932:Cplane1	UTSW	15	8,223,859 (GRCm39)	missense	probably damaging	1.00
R8968:Cplane1	UTSW	15	8,230,765 (GRCm39)	missense	possibly damaging	0.84
R8973:Cplane1	UTSW	15	8,233,277 (GRCm39)	missense	probably damaging	1.00
R9036:Cplane1	UTSW	15	8,252,622 (GRCm39)	missense	possibly damaging	0.63
R9134:Cplane1	UTSW	15	8,228,716 (GRCm39)	missense	probably damaging	0.99
R9197:Cplane1	UTSW	15	8,280,536 (GRCm39)	missense	unknown
R9259:Cplane1	UTSW	15	8,232,787 (GRCm39)	missense	possibly damaging	0.82
R9269:Cplane1	UTSW	15	8,248,500 (GRCm39)	missense	probably damaging	0.97
R9294:Cplane1	UTSW	15	8,232,811 (GRCm39)	missense	probably benign	0.00
R9328:Cplane1	UTSW	15	8,215,692 (GRCm39)	missense	probably damaging	1.00
R9563:Cplane1	UTSW	15	8,216,563 (GRCm39)	missense	probably benign	0.20
R9680:Cplane1	UTSW	15	8,231,785 (GRCm39)	missense	possibly damaging	0.68
R9721:Cplane1	UTSW	15	8,254,893 (GRCm39)	missense	unknown
R9779:Cplane1	UTSW	15	8,230,786 (GRCm39)	missense	possibly damaging	0.93
R9780:Cplane1	UTSW	15	8,258,123 (GRCm39)	missense	probably benign	0.00
U24488:Cplane1	UTSW	15	8,211,694 (GRCm39)	missense	probably damaging	1.00
X0023:Cplane1	UTSW	15	8,276,515 (GRCm39)	missense	unknown
Z1177:Cplane1	UTSW	15	8,239,473 (GRCm39)	missense	probably damaging	0.98
Z1177:Cplane1	UTSW	15	8,204,456 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGCTTGGACTATAGGAATTTC -3'
(R):5'- TACTTTCATCAGCGGCTGCC -3'

Sequencing Primer
(F):5'- CTGTGCCTAAGTTTGACC -3'
(R):5'- TGCCGGGACAGCCTCAG -3'

Posted On

2021-04-30