Mutagenetix > Incidental Mutation

Incidental Mutation 'R5527:Cplane2'

431910

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

043085-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.316) question?

Stock #

R5527 (G1)

Quality Score

158

Status

Not validated

Chromosome

Chromosomal Location

140941249-140947425 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 140947303 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 228 (A228D)

Ref Sequence

ENSEMBL: ENSMUSP00000095422 (fasta)

Gene Model

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

AlphaFold

A2A825

Predicted Effect

probably damaging
Transcript: ENSMUST00000097813
AA Change: A228D

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

SMART Domains

Protein: ENSMUSP00000095422
Gene: ENSMUSG00000073733
AA Change: A228D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125175

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151475

Coding Region Coverage

1x: 98.2%
3x: 97.2%
10x: 94.9%
20x: 89.7%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	A	16: 14,278,842 (GRCm39)	Y1051N	probably benign	Het
Bach1	T	C	16: 87,516,433 (GRCm39)	S325P	probably benign	Het
Baz2a	T	C	10: 127,960,786 (GRCm39)	S1529P	probably damaging	Het
Bicd1	T	C	6: 149,396,134 (GRCm39)	L168P	probably damaging	Het
Cat	A	G	2: 103,303,318 (GRCm39)	F153S	probably damaging	Het
Ccnt2	T	C	1: 127,730,401 (GRCm39)	M426T	probably benign	Het
Cdk7	C	T	13: 100,866,980 (GRCm39)	V38I	probably damaging	Het
Cenpj	T	C	14: 56,764,440 (GRCm39)	Y1324C	probably damaging	Het
Ddx47	C	A	6: 134,988,657 (GRCm39)	A18E	probably benign	Het
Dnah2	G	A	11: 69,328,014 (GRCm39)	Q3370*	probably null	Het
Dnah6	C	T	6: 73,136,212 (GRCm39)	V976I	probably benign	Het
Dock7	C	T	4: 98,842,105 (GRCm39)		probably benign	Het
Dpy19l3	A	T	7: 35,413,555 (GRCm39)	I362N	possibly damaging	Het
Fam118a	A	T	15: 84,942,999 (GRCm39)	T343S	probably benign	Het
Fcgbp	T	A	7: 27,793,060 (GRCm39)	D1021E	probably benign	Het
Fkbp1b	T	C	12: 4,883,746 (GRCm39)	Y83C	probably damaging	Het
Flt4	T	C	11: 49,525,581 (GRCm39)	I709T	probably damaging	Het
Gga3	G	T	11: 115,478,262 (GRCm39)	A510D	probably damaging	Het
Heatr1	T	C	13: 12,417,641 (GRCm39)	I264T	probably damaging	Het
Heatr1	T	C	13: 12,419,829 (GRCm39)	I384T	probably benign	Het
Hes2	T	C	4: 152,244,849 (GRCm39)	V106A	probably benign	Het
Igf1r	T	A	7: 67,857,569 (GRCm39)	M1083K	probably damaging	Het
Il7r	A	T	15: 9,513,010 (GRCm39)	D166E	probably benign	Het
Ipo4	G	A	14: 55,869,507 (GRCm39)		probably null	Het
Klk1b26	T	C	7: 43,662,187 (GRCm39)	I15T	probably benign	Het
Krt42	T	C	11: 100,154,121 (GRCm39)		probably benign	Het
Lag3	T	C	6: 124,885,592 (GRCm39)	T263A	probably damaging	Het
Lilra6	T	A	7: 3,917,586 (GRCm39)		probably benign	Het
Lrrc31	T	A	3: 30,745,377 (GRCm39)	H90L	probably damaging	Het
Lvrn	G	A	18: 47,006,870 (GRCm39)	D331N	probably damaging	Het
Me2	A	T	18: 73,924,187 (GRCm39)	W342R	probably damaging	Het
Mob2	A	G	7: 141,563,147 (GRCm39)	F220S	probably damaging	Het
Mroh4	A	G	15: 74,486,865 (GRCm39)	I342T	probably damaging	Het
Naa15	T	C	3: 51,349,368 (GRCm39)	Y46H	probably damaging	Het
Neb	A	G	2: 52,224,465 (GRCm39)	V10A	unknown	Het
Nlrc5	A	G	8: 95,217,044 (GRCm39)	H1011R	probably damaging	Het
Nr1i3	A	G	1: 171,041,921 (GRCm39)	T2A	possibly damaging	Het
Nrros	T	C	16: 31,963,288 (GRCm39)	N207S	probably damaging	Het
Or52m2	A	T	7: 102,263,768 (GRCm39)	S143T	probably benign	Het
Or7c70	C	T	10: 78,683,609 (GRCm39)	V47M	probably benign	Het
Pcare	A	T	17: 72,059,635 (GRCm39)	V14D	probably damaging	Het
Ptprz1	C	T	6: 23,000,052 (GRCm39)	T714I	possibly damaging	Het
Rp1	T	C	1: 4,416,616 (GRCm39)	T1499A	possibly damaging	Het
Rubcn	T	C	16: 32,647,081 (GRCm39)	K771E	probably damaging	Het
Sbds	T	C	5: 130,275,247 (GRCm39)	E227G	possibly damaging	Het
Setd1a	C	T	7: 127,384,801 (GRCm39)	P8S	probably damaging	Het
Sh3tc2	A	G	18: 62,144,932 (GRCm39)	I1129V	probably benign	Het
Spef1	T	A	2: 131,014,661 (GRCm39)	D87V	probably damaging	Het
Supv3l1	C	T	10: 62,265,608 (GRCm39)	R644Q	probably damaging	Het
Thoc6	A	G	17: 23,889,769 (GRCm39)	F51S	probably damaging	Het
Tm4sf19	T	C	16: 32,226,739 (GRCm39)	L176P	probably damaging	Het
Tma16	A	G	8: 66,936,776 (GRCm39)	I17T	possibly damaging	Het
Tpd52l2	G	A	2: 181,143,847 (GRCm39)		probably null	Het
Ube2j1	C	T	4: 33,045,164 (GRCm39)	P146S	probably benign	Het
Ubr4	T	A	4: 139,208,099 (GRCm39)	I4960N	possibly damaging	Het
Usp13	A	G	3: 32,919,987 (GRCm39)	D224G	probably damaging	Het
Uxs1	T	C	1: 43,819,240 (GRCm39)	T188A	probably damaging	Het
Vmn2r12	A	T	5: 109,234,483 (GRCm39)	Y576*	probably null	Het
Vmn2r73	T	C	7: 85,507,575 (GRCm39)	D579G	possibly damaging	Het
Xpr1	T	C	1: 155,165,981 (GRCm39)	N524D	probably benign	Het
Xrn2	A	T	2: 146,871,675 (GRCm39)	I366L	probably benign	Het
Zfp236	A	T	18: 82,676,159 (GRCm39)	V386E	possibly damaging	Het
Zfp292	A	T	4: 34,806,261 (GRCm39)	L2261Q	probably damaging	Het
Zpld1	C	G	16: 55,046,725 (GRCm39)	E415Q	probably benign	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
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
R8046:Cplane2	UTSW	4	140,947,348 (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'- GCAGAGCTAGGCACCTTAAC -3'
(R):5'- GGGGCTCCTTTTAACTCTGGAG -3'

Sequencing Primer
(F):5'- GAGCTAGGCACCTTAACCCTCC -3'
(R):5'- TCACTGCCATGTGAGAGCC -3'

Posted On

2016-10-05