Mutagenetix > Incidental Mutation

Incidental Mutation 'R3886:Cplane1'

309668

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

040798-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3886 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8198590-8300642 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8201289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 22 (V22E)

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: V22E

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106247
Gene: ENSMUSG00000039801
AA Change: V22E

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933407L21Rik	T	A	1: 85,868,273 (GRCm39)		probably null	Het
Adam17	G	A	12: 21,375,588 (GRCm39)	R744C	probably damaging	Het
Adss2	A	G	1: 177,595,335 (GRCm39)	Y402H	probably damaging	Het
Ccdc73	A	T	2: 104,821,688 (GRCm39)	T546S	possibly damaging	Het
Cd22	T	C	7: 30,569,532 (GRCm39)	D354G	possibly damaging	Het
Chchd6	T	C	6: 89,444,433 (GRCm39)	E183G	probably damaging	Het
Col6a5	A	G	9: 105,808,129 (GRCm39)	L973P	unknown	Het
Cp	T	C	3: 20,043,275 (GRCm39)	L1021P	probably damaging	Het
Cps1	C	A	1: 67,204,659 (GRCm39)	T493K	possibly damaging	Het
D630045J12Rik	A	G	6: 38,119,633 (GRCm39)	V1703A	possibly damaging	Het
Dennd1a	T	C	2: 37,748,089 (GRCm39)	N376S	possibly damaging	Het
Dmxl1	T	A	18: 50,011,326 (GRCm39)	M1161K	probably damaging	Het
Ect2l	C	T	10: 18,044,206 (GRCm39)	V310M	probably damaging	Het
Fn1	T	C	1: 71,679,465 (GRCm39)	Y511C	probably damaging	Het
Foxd2	T	C	4: 114,765,483 (GRCm39)	H179R	unknown	Het
Gm8674	T	C	13: 50,056,199 (GRCm39)		noncoding transcript	Het
Ice1	T	C	13: 70,753,489 (GRCm39)	T866A	probably benign	Het
Jade2	C	T	11: 51,721,326 (GRCm39)	V201I	possibly damaging	Het
Kcnb2	T	C	1: 15,780,639 (GRCm39)	S504P	probably damaging	Het
Kcng4	T	C	8: 120,359,986 (GRCm39)	K130R	probably benign	Het
Lcor	T	A	19: 41,546,795 (GRCm39)	S126R	probably damaging	Het
Lct	T	C	1: 128,231,963 (GRCm39)	M629V	probably damaging	Het
Lrch2	C	G	X: 146,256,003 (GRCm39)	A437P	probably damaging	Het
Lrrk1	C	T	7: 65,942,112 (GRCm39)	V709I	probably damaging	Het
Mdh1	A	G	11: 21,509,832 (GRCm39)	V181A	probably damaging	Het
Or10g7	A	G	9: 39,905,835 (GRCm39)	H243R	probably damaging	Het
Or4a71	T	A	2: 89,358,076 (GRCm39)	H226L	possibly damaging	Het
Ppp1r3a	A	C	6: 14,719,911 (GRCm39)	D334E	possibly damaging	Het
Pramel17	T	C	4: 101,692,920 (GRCm39)	K360R	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rbm45	A	G	2: 76,205,768 (GRCm39)	S207G	probably benign	Het
Relch	A	G	1: 105,619,938 (GRCm39)	N331S	probably benign	Het
Robo3	G	A	9: 37,333,477 (GRCm39)	Q723*	probably null	Het
Rreb1	G	A	13: 38,082,482 (GRCm39)		probably null	Het
Slc35f2	T	A	9: 53,724,241 (GRCm39)	S372T	probably benign	Het
Slitrk5	T	A	14: 111,917,229 (GRCm39)	C284*	probably null	Het
Snapc4	G	A	2: 26,255,510 (GRCm39)	Q1005*	probably null	Het
Tent4b	C	A	8: 88,927,043 (GRCm39)	A151E	probably benign	Het
Tnxb	A	G	17: 34,937,885 (GRCm39)	D3896G	probably damaging	Het
Tti1	A	G	2: 157,850,870 (GRCm39)	V123A	possibly damaging	Het
Usp1	T	C	4: 98,817,973 (GRCm39)	C147R	probably damaging	Het
Vill	A	G	9: 118,895,782 (GRCm39)	N106S	probably benign	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
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
R8791:Cplane1	UTSW	15	8,216,744 (GRCm39)	missense	probably damaging	1.00
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'- GTGTTGAGAAAACCTATCCTTTGT -3'
(R):5'- CTCAATTCTCTGTAAATGCTAACGT -3'

Sequencing Primer
(F):5'- ACCTATCCTTTGTAAATATTTCAGGC -3'
(R):5'- GCCATACCCATCCTCATTTTCTGAAG -3'

Posted On

2015-04-17