Mutagenetix > Incidental Mutation

Incidental Mutation 'R8046:Cplane2'

618741

Institutional Source

Beutler Lab

Gene Symbol

Cplane2

Ensembl Gene

ENSMUSG00000073733

Gene Name

ciliogenesis and planar polarity effector 2

Synonyms

Rsg1, b2b2827Clo, b2b2804Clo, 6330545A04Rik, LOC279260

MMRRC Submission

067483-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.391) question?

Stock #

R8046 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140941249-140947425 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 140947348 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 243 (Q243P)

Ref Sequence

ENSEMBL: ENSMUSP00000095422 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097813]

AlphaFold

A2A825

Predicted Effect

probably damaging
Transcript: ENSMUST00000097813
AA Change: Q243P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095422
Gene: ENSMUSG00000073733
AA Change: Q243P

Domain	Start	End	E-Value	Type
Pfam:Roc	57	179	7.3e-9	PFAM
Pfam:Ras	57	207	4.3e-11	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (64/64)

MGI Phenotype

PHENOTYPE: Mice homozygous for ENU-induced mutations exhibit cardiovascular defects including persistent truncus arteriosus and atrioventricular septal defects, as well as polydactyly and micrognathia. Eye defects, hypoplastic lungs and thymus, and tracheoesophageal anomalies may be also present. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	G	T	5: 77,044,325 (GRCm39)	D188E	probably benign	Het
Ahcyl2	T	C	6: 29,878,619 (GRCm39)	L273P	probably damaging	Het
Amotl2	C	T	9: 102,600,968 (GRCm39)	T345I	probably benign	Het
Angpt1	T	C	15: 42,359,752 (GRCm39)	T227A	probably benign	Het
Ankle1	C	T	8: 71,860,665 (GRCm39)	T374M	probably damaging	Het
Arhgap18	T	C	10: 26,763,853 (GRCm39)	V481A	probably damaging	Het
Astn2	A	T	4: 66,184,587 (GRCm39)	L170*	probably null	Het
Bms1	T	C	6: 118,385,105 (GRCm39)	T368A	probably benign	Het
Boll	A	G	1: 55,385,562 (GRCm39)	I121T	probably damaging	Het
Brca1	A	C	11: 101,416,296 (GRCm39)	C613G	probably benign	Het
Cdk14	T	A	5: 5,299,159 (GRCm39)	I65F	possibly damaging	Het
Chn1	T	C	2: 73,448,363 (GRCm39)	D335G	probably damaging	Het
Clpsl2	G	A	17: 28,769,702 (GRCm39)	G55R	probably damaging	Het
Col12a1	A	G	9: 79,613,508 (GRCm39)		probably null	Het
Crtac1	T	C	19: 42,297,492 (GRCm39)		probably benign	Het
Dhx40	A	T	11: 86,675,766 (GRCm39)	C507*	probably null	Het
Dok2	A	G	14: 71,015,482 (GRCm39)	D403G	probably damaging	Het
Eif1ad14	T	C	12: 87,886,335 (GRCm39)	D98G	probably benign	Het
Eif2b5	A	G	16: 20,325,154 (GRCm39)	T556A	possibly damaging	Het
Eml6	A	T	11: 29,708,981 (GRCm39)	V1480E	probably damaging	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Glra1	A	G	11: 55,427,225 (GRCm39)	S120P	probably damaging	Het
Habp4	T	C	13: 64,322,656 (GRCm39)	S242P	probably benign	Het
Igkv12-46	A	G	6: 69,741,570 (GRCm39)	I95T	probably damaging	Het
Itch	G	T	2: 155,052,422 (GRCm39)	G674V	probably damaging	Het
Itpr2	A	G	6: 146,327,957 (GRCm39)	L92P	probably damaging	Het
Kcnk2	A	G	1: 188,990,933 (GRCm39)		probably null	Het
Krt75	T	C	15: 101,481,199 (GRCm39)	T192A	probably benign	Het
Lrp1b	T	A	2: 41,159,199 (GRCm39)	K1694N		Het
Lrrc14	A	G	15: 76,598,731 (GRCm39)	K456E	possibly damaging	Het
Map1lc3a	G	T	2: 155,119,129 (GRCm39)		probably benign	Het
Naip5	T	A	13: 100,358,741 (GRCm39)	M832L	probably benign	Het
Nectin1	A	G	9: 43,703,798 (GRCm39)	T263A	probably benign	Het
Nnt	A	T	13: 119,511,286 (GRCm39)	M330K	probably damaging	Het
Nrap	T	C	19: 56,308,683 (GRCm39)	N1711D	possibly damaging	Het
Olfm1	A	G	2: 28,119,135 (GRCm39)	N285D	possibly damaging	Het
Or4b1d	T	A	2: 89,969,159 (GRCm39)	E108V	probably damaging	Het
Or51ab3	T	A	7: 103,201,584 (GRCm39)	S197R	possibly damaging	Het
Or8b8	A	T	9: 37,808,685 (GRCm39)		probably benign	Het
Pag1	A	G	3: 9,764,482 (GRCm39)	Y224H	probably damaging	Het
Pde8a	T	C	7: 80,958,587 (GRCm39)	C322R	possibly damaging	Het
Pde8a	A	T	7: 80,967,118 (GRCm39)	T420S	probably benign	Het
Per2	A	C	1: 91,363,425 (GRCm39)	L365R	possibly damaging	Het
Pml	A	G	9: 58,154,256 (GRCm39)		probably null	Het
Ppp1r1a	T	A	15: 103,446,305 (GRCm39)	M1L	possibly damaging	Het
Ppp3r2	G	T	4: 49,681,913 (GRCm39)	C12*	probably null	Het
Rbm20	C	A	19: 53,806,402 (GRCm39)	A494D	probably benign	Het
Scyl1	C	T	19: 5,810,620 (GRCm39)	R531Q	possibly damaging	Het
Skp2	C	A	15: 9,139,687 (GRCm39)	V38F	probably damaging	Het
Slc27a3	A	G	3: 90,296,974 (GRCm39)	C42R	probably damaging	Het
Tekt5	A	G	16: 10,213,277 (GRCm39)	F3L	probably benign	Het
Tmem200c	A	G	17: 69,147,513 (GRCm39)	K32R	probably benign	Het
Tmprss11f	T	A	5: 86,676,132 (GRCm39)	R350W	probably damaging	Het
Tph2	A	T	10: 115,015,499 (GRCm39)	I121N	possibly damaging	Het
Trim37	A	G	11: 87,037,794 (GRCm39)	D176G	possibly damaging	Het
Trpc4	A	T	3: 54,102,335 (GRCm39)	I78F	probably damaging	Het
Ttn	T	C	2: 76,609,829 (GRCm39)	K17526E	probably damaging	Het
Tuba8	A	C	6: 121,199,832 (GRCm39)	Y172S	probably damaging	Het
Tubg1	G	T	11: 101,014,854 (GRCm39)	A199S	probably benign	Het
Urb2	A	T	8: 124,754,771 (GRCm39)	R159S	possibly damaging	Het
Usp25	T	A	16: 76,906,063 (GRCm39)	C840S	probably damaging	Het
Vmn1r36	T	A	6: 66,692,964 (GRCm39)	K304*	probably null	Het
Vmn1r37	C	A	6: 66,708,656 (GRCm39)	T94N	probably damaging	Het
Vmn2r7	T	C	3: 64,614,479 (GRCm39)	N445S	probably damaging	Het
Wnk4	G	A	11: 101,164,918 (GRCm39)	G749D	probably benign	Het
Wscd2	G	A	5: 113,689,176 (GRCm39)	V61I	probably benign	Het
Zfp85	T	A	13: 67,897,098 (GRCm39)	R325*	probably null	Het

Other mutations in Cplane2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01434:Cplane2	APN	4	140,945,964 (GRCm39)	missense	probably benign	0.01
R0488:Cplane2	UTSW	4	140,941,712 (GRCm39)	missense	probably benign	0.05
R0967:Cplane2	UTSW	4	140,947,162 (GRCm39)	missense	probably benign	0.01
R1339:Cplane2	UTSW	4	140,945,859 (GRCm39)	missense	probably damaging	1.00
R1460:Cplane2	UTSW	4	140,945,523 (GRCm39)	missense	probably damaging	0.97
R3826:Cplane2	UTSW	4	140,945,900 (GRCm39)	missense	probably damaging	1.00
R3828:Cplane2	UTSW	4	140,945,900 (GRCm39)	missense	probably damaging	1.00
R3829:Cplane2	UTSW	4	140,945,900 (GRCm39)	missense	probably damaging	1.00
R3830:Cplane2	UTSW	4	140,945,900 (GRCm39)	missense	probably damaging	1.00
R5076:Cplane2	UTSW	4	140,944,696 (GRCm39)	missense	probably benign	0.00
R5242:Cplane2	UTSW	4	140,947,158 (GRCm39)	missense	probably damaging	1.00
R5527:Cplane2	UTSW	4	140,947,303 (GRCm39)	missense	probably damaging	1.00
R5610:Cplane2	UTSW	4	140,947,177 (GRCm39)	missense	probably benign	0.00
R5677:Cplane2	UTSW	4	140,947,177 (GRCm39)	missense	probably benign	0.00
R6049:Cplane2	UTSW	4	140,945,473 (GRCm39)	missense	probably benign	0.18
R6543:Cplane2	UTSW	4	140,944,599 (GRCm39)	missense	probably benign
R7078:Cplane2	UTSW	4	140,947,159 (GRCm39)	missense	probably benign	0.01
R7483:Cplane2	UTSW	4	140,947,153 (GRCm39)	missense	probably damaging	1.00
R8169:Cplane2	UTSW	4	140,945,530 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGAGCTAGGCACCTTAACC -3'
(R):5'- GGGGCTCCTTTTAACTCTGG -3'

Sequencing Primer
(F):5'- CGCAGGTTTGATCAGTACATGCAC -3'
(R):5'- AACTCTGGAGCCTCATGCC -3'

Posted On

2020-01-23