Mutagenetix > Incidental Mutation

Incidental Mutation 'R8941:Canx'

680998

Institutional Source

Beutler Lab

Gene Symbol

Canx

Ensembl Gene

ENSMUSG00000020368

Gene Name

calnexin

Synonyms

CNX, 1110069N15Rik

MMRRC Submission

068781-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.930) question?

Stock #

R8941 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50184788-50216500 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50195270 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 266 (D266G)

Ref Sequence

ENSEMBL: ENSMUSP00000137440 (fasta)

Gene Model

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

AlphaFold

P35564

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020637
AA Change: D266G

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000020637
Gene: ENSMUSG00000020368
AA Change: D266G

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: D266G

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137440
Gene: ENSMUSG00000020368
AA Change: D266G

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: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

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
2010315B03Rik	T	A	9: 124,056,679 (GRCm39)	T103S	probably benign	Het
Aadacl2fm3	A	G	3: 59,784,400 (GRCm39)	Y291C	probably damaging	Het
Aass	A	T	6: 23,075,261 (GRCm39)		probably benign	Het
Adgrb3	A	T	1: 25,133,235 (GRCm39)	C1284S	probably damaging	Het
Adora2a	G	A	10: 75,169,559 (GRCm39)	W341*	probably null	Het
Afg2a	T	A	3: 37,486,142 (GRCm39)	L288H	probably damaging	Het
Arap1	G	A	7: 101,057,324 (GRCm39)	R1355Q	possibly damaging	Het
Asic5	A	T	3: 81,913,915 (GRCm39)		probably benign	Het
Cfap57	A	T	4: 118,426,799 (GRCm39)	Y1080N	probably damaging	Het
Chat	C	T	14: 32,130,963 (GRCm39)	M559I	probably benign	Het
Chd5	G	A	4: 152,463,305 (GRCm39)	S1425N	possibly damaging	Het
Cog8	T	C	8: 107,783,202 (GRCm39)	D29G	probably damaging	Het
Cox15	A	G	19: 43,732,172 (GRCm39)	S215P	probably benign	Het
Cramp1	C	T	17: 25,202,114 (GRCm39)	G456D	probably damaging	Het
Dbt	T	C	3: 116,339,698 (GRCm39)	V362A	probably damaging	Het
Dio1	C	A	4: 107,164,147 (GRCm39)	A57S	probably benign	Het
F5	C	A	1: 164,026,440 (GRCm39)	H1671N	probably benign	Het
Gm6309	A	G	5: 146,107,155 (GRCm39)	Y64H	probably damaging	Het
Hipk1	A	G	3: 103,660,743 (GRCm39)	C731R	probably damaging	Het
Hmgcl	G	A	4: 135,683,015 (GRCm39)	A156T	probably damaging	Het
Il15ra	A	T	2: 11,737,995 (GRCm39)	T210S	possibly damaging	Het
Kat8	T	C	7: 127,524,400 (GRCm39)	L426P	probably damaging	Het
Lrrc39	G	T	3: 116,359,496 (GRCm39)	V14L	probably damaging	Het
Lrrc7	T	C	3: 157,869,593 (GRCm39)	M709V	probably benign	Het
Mdm4	T	C	1: 132,919,671 (GRCm39)	H398R	probably benign	Het
Mroh2b	A	T	15: 4,991,606 (GRCm39)	Q1568L	possibly damaging	Het
Myo18b	G	A	5: 113,022,795 (GRCm39)		probably benign	Het
Nr4a3	C	A	4: 48,051,756 (GRCm39)	P170Q	possibly damaging	Het
Ntrk2	A	G	13: 59,208,109 (GRCm39)	M652V	probably damaging	Het
Or10n7-ps1	A	T	9: 39,597,812 (GRCm39)	*143K	probably null	Het
Or5b95	G	A	19: 12,657,471 (GRCm39)		probably benign	Het
Paxbp1	T	C	16: 90,832,815 (GRCm39)	I325V	possibly damaging	Het
Pcare	T	C	17: 72,059,137 (GRCm39)	H180R	probably benign	Het
Pi4ka	G	T	16: 17,114,807 (GRCm39)		probably benign	Het
Pira13	A	G	7: 3,825,380 (GRCm39)	S421P	probably damaging	Het
Pou6f1	T	A	15: 100,489,742 (GRCm39)	D74V	probably damaging	Het
Prpsap2	C	A	11: 61,627,870 (GRCm39)	R202L	probably damaging	Het
Ptprn	A	T	1: 75,228,407 (GRCm39)	L890Q	probably damaging	Het
Ramp1	C	G	1: 91,134,137 (GRCm39)	P97A	probably benign	Het
Rapgefl1	A	G	11: 98,731,101 (GRCm39)	D179G	probably damaging	Het
Rbp3	T	A	14: 33,678,486 (GRCm39)	F811L	possibly damaging	Het
Rnf213	C	A	11: 119,305,250 (GRCm39)	L494M	probably damaging	Het
Rpl4	A	G	9: 64,082,245 (GRCm39)	N48S	probably benign	Het
Rsbn1l	A	G	5: 21,110,841 (GRCm39)	V499A	probably damaging	Het
Sacs	A	G	14: 61,430,022 (GRCm39)	T691A	probably benign	Het
Sass6	T	C	3: 116,407,709 (GRCm39)	V275A	probably benign	Het
Sdcbp	T	C	4: 6,393,661 (GRCm39)	S259P	probably benign	Het
Sephs2	A	G	7: 126,872,206 (GRCm39)	F296L	probably benign	Het
Slc12a4	C	T	8: 106,673,322 (GRCm39)		probably null	Het
Snrk	G	A	9: 121,989,597 (GRCm39)	V314I	probably benign	Het
Tas1r3	C	T	4: 155,947,600 (GRCm39)		probably null	Het
Tle3	T	A	9: 61,320,195 (GRCm39)	V560E	probably damaging	Het
Trdmt1	A	G	2: 13,526,918 (GRCm39)	Y144H	probably benign	Het
Trim42	T	C	9: 97,245,100 (GRCm39)	T567A	probably benign	Het
Tsbp1	A	C	17: 34,678,973 (GRCm39)	R228S	possibly damaging	Het
Tuba4a	T	C	1: 75,193,945 (GRCm39)	D74G	probably benign	Het
Ube3c	G	A	5: 29,842,769 (GRCm39)		probably null	Het
Vwa3a	A	G	7: 120,375,311 (GRCm39)	D375G	probably benign	Het
Zfp729b	A	G	13: 67,741,218 (GRCm39)	M349T	possibly 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
R8508:Canx	UTSW	11	50,202,474 (GRCm39)	missense	possibly damaging	0.85
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'- CCAGAGTAATTGGAACTTAAGTCCCC -3'
(R):5'- ACTATACACTGGGTCTTCCTCTAG -3'

Sequencing Primer
(F):5'- CTTGCAAGCAAGCATAGGGTCTTAC -3'
(R):5'- TTCCTCTAGAAGGCATGATCTG -3'

Posted On

2021-08-31