Mutagenetix > Incidental Mutation

Incidental Mutation 'R8508:Canx'

655707

Institutional Source

Beutler Lab

Gene Symbol

Canx

Ensembl Gene

ENSMUSG00000020368

Gene Name

calnexin

Synonyms

CNX, 1110069N15Rik

MMRRC Submission

067844-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.930) question?

Stock #

R8508 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

50184788-50216500 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50202474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 44 (D44G)

Ref Sequence

ENSEMBL: ENSMUSP00000020637 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020637] [ENSMUST00000179865]

AlphaFold

P35564

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020637
AA Change: D44G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020637
Gene: ENSMUSG00000020368
AA Change: D44G

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Calreticulin	72	441	1.7e-170	PFAM
transmembrane domain	484	506	N/A	INTRINSIC
coiled coil region	525	560	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179865
AA Change: D44G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000137440
Gene: ENSMUSG00000020368
AA Change: D44G

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Calreticulin	70	441	4.7e-166	PFAM
transmembrane domain	484	506	N/A	INTRINSIC
coiled coil region	525	560	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the calnexin family of molecular chaperones. The encoded protein is a calcium-binding, endoplasmic reticulum (ER)-associated protein that interacts transiently with newly synthesized N-linked glycoproteins, facilitating protein folding and assembly. It may also play a central role in the quality control of protein folding by retaining incorrectly folded protein subunits within the ER for degradation. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit motor defects, loss of large myelinated nerve fibers, small size, and very high mortality between birth and 4 weeks of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	T	G	16: 90,852,500 (GRCm39)	Y212S	probably damaging	Het
Angpt1	T	C	15: 42,375,795 (GRCm39)	N154D	probably damaging	Het
Angpt2	G	A	8: 18,791,135 (GRCm39)	R54*	probably null	Het
Ankrd27	T	A	7: 35,301,051 (GRCm39)	L117*	probably null	Het
Arhgap21	C	T	2: 20,858,991 (GRCm39)	M1234I	probably benign	Het
Arhgef33	A	G	17: 80,674,764 (GRCm39)	E387G	probably damaging	Het
Atp13a4	T	A	16: 29,273,587 (GRCm39)	K444*	probably null	Het
Atp6v1a	G	A	16: 43,922,225 (GRCm39)	R338C	probably damaging	Het
Ccdc141	T	A	2: 76,962,588 (GRCm39)	M119L	probably benign	Het
Ckmt1	A	C	2: 121,193,172 (GRCm39)	Q299P	possibly damaging	Het
Dhx16	T	C	17: 36,196,812 (GRCm39)	S601P	probably damaging	Het
Dna2	A	C	10: 62,786,673 (GRCm39)	R140S	probably damaging	Het
Dock1	A	G	7: 134,384,138 (GRCm39)	T670A	probably benign	Het
Eif1ad10	T	G	12: 88,216,455 (GRCm39)	E139A	unknown	Het
Eogt	A	G	6: 97,120,959 (GRCm39)	S85P	possibly damaging	Het
Fbf1	A	T	11: 116,056,707 (GRCm39)	M1K	probably null	Het
Fbxl12	C	A	9: 20,550,160 (GRCm39)	R165L	possibly damaging	Het
Flnb	G	A	14: 7,950,394 (GRCm38)	V2571I	probably damaging	Het
Gm43518	A	G	5: 124,076,322 (GRCm39)	E123G	unknown	Het
Gpatch2	A	G	1: 187,036,552 (GRCm39)	N374S	probably benign	Het
Hey1	G	C	3: 8,729,836 (GRCm39)	A207G	probably benign	Het
Hoxa11	T	C	6: 52,222,782 (GRCm39)		probably benign	Het
Hydin	G	A	8: 111,308,650 (GRCm39)	V3979I	probably benign	Het
Ighe	C	T	12: 113,235,413 (GRCm39)	W277*	probably null	Het
Kmt2c	G	T	5: 25,519,120 (GRCm39)	T2330K	probably benign	Het
Krt6a	T	A	15: 101,601,170 (GRCm39)	K261M	probably damaging	Het
Lats2	A	C	14: 57,960,162 (GRCm39)	S161A	probably benign	Het
Med13l	T	A	5: 118,892,386 (GRCm39)	D1936E	probably benign	Het
Mipol1	T	C	12: 57,352,874 (GRCm39)	V71A	possibly damaging	Het
Mphosph8	A	T	14: 56,914,003 (GRCm39)	K415*	probably null	Het
Npepps	A	G	11: 97,135,252 (GRCm39)		probably null	Het
Ntn4	A	T	10: 93,576,966 (GRCm39)	N545Y	possibly damaging	Het
Or11g1	A	C	14: 50,651,132 (GRCm39)	M44L	probably benign	Het
Or1n1b	A	G	2: 36,780,366 (GRCm39)	S165P	probably damaging	Het
Or2m12	T	C	16: 19,105,451 (GRCm39)	D14G	probably benign	Het
Or9i2	A	T	19: 13,815,766 (GRCm39)	M257K	possibly damaging	Het
Osbpl2	T	A	2: 179,797,136 (GRCm39)	V358E	possibly damaging	Het
Pdcd11	C	A	19: 47,108,245 (GRCm39)	P1204Q	probably damaging	Het
Pnliprp2	A	C	19: 58,751,806 (GRCm39)	S184R	probably damaging	Het
Ppm1g	G	T	5: 31,361,872 (GRCm39)	R373S	probably damaging	Het
Rnf130	A	G	11: 49,978,264 (GRCm39)	D275G	probably damaging	Het
Rps18-ps5	A	G	13: 28,441,694 (GRCm39)	I26V	probably benign	Het
Setd5	T	C	6: 113,098,048 (GRCm39)	S696P	probably damaging	Het
Sgip1	A	G	4: 102,772,268 (GRCm39)	Q219R	probably benign	Het
Slc1a2	T	C	2: 102,566,430 (GRCm39)		probably null	Het
Slc22a12	T	C	19: 6,592,467 (GRCm39)	T106A	probably benign	Het
Slc22a14	A	G	9: 119,009,651 (GRCm39)	L148P	probably damaging	Het
Slc2a9	A	T	5: 38,539,421 (GRCm39)	F375I	probably damaging	Het
Sorbs3	A	T	14: 70,440,396 (GRCm39)	D117E	probably benign	Het
Spata31d1e	A	G	13: 59,891,412 (GRCm39)	L136P	probably benign	Het
Sphkap	G	A	1: 83,254,221 (GRCm39)	T1176I	probably damaging	Het
Supt16	A	T	14: 52,419,046 (GRCm39)	V193D	probably damaging	Het
Sytl3	A	G	17: 6,995,690 (GRCm39)	T362A	probably damaging	Het
Tctn1	T	A	5: 122,384,674 (GRCm39)	Q410L	probably benign	Het
Trbc2	T	C	6: 41,524,711 (GRCm39)	Y133H		Het
Ttc28	G	A	5: 111,381,207 (GRCm39)	D1240N	probably benign	Het
Vmn2r120	A	G	17: 57,832,843 (GRCm39)	V112A	probably benign	Het
Zfp354b	A	T	11: 50,814,297 (GRCm39)	S209R	probably benign	Het
Zfp362	T	C	4: 128,668,399 (GRCm39)	H391R	probably damaging	Het

Other mutations in Canx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00675:Canx	APN	11	50,191,823 (GRCm39)	missense	possibly damaging	0.61
IGL03089:Canx	APN	11	50,195,309 (GRCm39)	missense	possibly damaging	0.85
R1428:Canx	UTSW	11	50,199,221 (GRCm39)	splice site	probably benign
R1876:Canx	UTSW	11	50,195,186 (GRCm39)	missense	probably damaging	1.00
R2057:Canx	UTSW	11	50,195,252 (GRCm39)	missense	probably damaging	0.97
R2058:Canx	UTSW	11	50,195,252 (GRCm39)	missense	probably damaging	0.97
R2088:Canx	UTSW	11	50,201,217 (GRCm39)	missense	possibly damaging	0.89
R2126:Canx	UTSW	11	50,195,185 (GRCm39)	missense	probably damaging	1.00
R2217:Canx	UTSW	11	50,201,694 (GRCm39)	missense	probably benign	0.24
R2218:Canx	UTSW	11	50,201,694 (GRCm39)	missense	probably benign	0.24
R2386:Canx	UTSW	11	50,187,933 (GRCm39)	missense	probably benign
R3716:Canx	UTSW	11	50,195,301 (GRCm39)	missense	probably benign	0.14
R3957:Canx	UTSW	11	50,199,210 (GRCm39)	missense	probably damaging	1.00
R4019:Canx	UTSW	11	50,190,072 (GRCm39)	missense	probably damaging	1.00
R4402:Canx	UTSW	11	50,195,265 (GRCm39)	missense	probably benign	0.13
R4825:Canx	UTSW	11	50,199,636 (GRCm39)	missense	probably benign	0.42
R5252:Canx	UTSW	11	50,199,621 (GRCm39)	missense	probably damaging	1.00
R5385:Canx	UTSW	11	50,192,639 (GRCm39)	missense	probably damaging	1.00
R5797:Canx	UTSW	11	50,191,844 (GRCm39)	missense	probably benign	0.00
R5820:Canx	UTSW	11	50,199,210 (GRCm39)	missense	probably damaging	1.00
R6052:Canx	UTSW	11	50,187,946 (GRCm39)	missense	possibly damaging	0.49
R7259:Canx	UTSW	11	50,192,643 (GRCm39)	missense	probably damaging	1.00
R7603:Canx	UTSW	11	50,202,455 (GRCm39)	missense	probably benign
R7715:Canx	UTSW	11	50,201,631 (GRCm39)	missense	probably benign	0.13
R7735:Canx	UTSW	11	50,191,866 (GRCm39)	missense	probably damaging	0.97
R8063:Canx	UTSW	11	50,199,173 (GRCm39)	nonsense	probably null
R8069:Canx	UTSW	11	50,202,531 (GRCm39)	missense	possibly damaging	0.93
R8494:Canx	UTSW	11	50,202,609 (GRCm39)	critical splice acceptor site	probably null
R8941:Canx	UTSW	11	50,195,270 (GRCm39)	missense	possibly damaging	0.90
R9153:Canx	UTSW	11	50,188,162 (GRCm39)	missense	probably benign
R9722:Canx	UTSW	11	50,195,301 (GRCm39)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- GTAACTATATATCCCCAGCCTCTG -3'
(R):5'- TGGGAAACAGTACATTTCACATTCC -3'

Sequencing Primer
(F):5'- CTCTGGAAGAGCAGTCAGTACTC -3'
(R):5'- CCTTCCAAATGCTGGGATTACAGG -3'

Posted On

2020-10-20