Mutagenetix > Incidental Mutation

Incidental Mutation 'R8069:Canx'

620187

Institutional Source

Beutler Lab

Gene Symbol

Canx

Ensembl Gene

ENSMUSG00000020368

Gene Name

calnexin

Synonyms

CNX, 1110069N15Rik

MMRRC Submission

067504-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.930) question?

Stock #

R8069 (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 G at 50202531 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 25 (D25A)

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: D25A

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000020637
Gene: ENSMUSG00000020368
AA Change: D25A

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: D25A

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137440
Gene: ENSMUSG00000020368
AA Change: D25A

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: 99.2%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	T	A	9: 4,296,823 (GRCm39)	D261V	probably benign	Het
Abca8a	T	C	11: 109,980,876 (GRCm39)	Y54C	probably damaging	Het
Adad2	T	C	8: 120,342,746 (GRCm39)	S431P	probably benign	Het
Adam18	A	G	8: 25,118,246 (GRCm39)	Y557H	possibly damaging	Het
Adam5	C	T	8: 25,303,541 (GRCm39)	E129K	probably damaging	Het
Adgra2	T	C	8: 27,609,251 (GRCm39)	V824A	probably benign	Het
Armc12	A	T	17: 28,751,410 (GRCm39)	K135*	probably null	Het
Aup1	C	T	6: 83,032,910 (GRCm39)	Q215*	probably null	Het
AW146154	G	A	7: 41,129,935 (GRCm39)	R394C	probably benign	Het
Ccnf	A	G	17: 24,443,989 (GRCm39)	L593P	probably damaging	Het
Cd40	A	T	2: 164,898,695 (GRCm39)	I41F	unknown	Het
Cdh1	C	T	8: 107,384,405 (GRCm39)	A291V	probably benign	Het
Cdhr2	A	T	13: 54,878,883 (GRCm39)	I963F	probably damaging	Het
Cenpe	G	A	3: 134,949,479 (GRCm39)	G88D	probably damaging	Het
Cep295	T	A	9: 15,233,882 (GRCm39)	T2305S	possibly damaging	Het
Cimap1a	A	T	7: 140,430,215 (GRCm39)	T201S	probably benign	Het
Clcn4	T	C	7: 7,299,758 (GRCm39)	R24G	probably damaging	Het
Cnot7	T	C	8: 40,960,514 (GRCm39)	N98S	possibly damaging	Het
Defa3	T	G	8: 21,778,288 (GRCm39)	C91G	probably damaging	Het
Dennd2c	T	C	3: 103,072,446 (GRCm39)	F844L	probably damaging	Het
Dido1	T	C	2: 180,302,705 (GRCm39)	D1733G	probably benign	Het
Dnah7b	G	A	1: 46,263,866 (GRCm39)	W2116*	probably null	Het
Dnaja3	T	C	16: 4,502,131 (GRCm39)	V45A	probably benign	Het
Efcab7	T	A	4: 99,717,615 (GRCm39)	S11T	unknown	Het
Enpp2	T	A	15: 54,710,697 (GRCm39)	K744N	probably damaging	Het
Fam171b	CCAGCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGCAGC	2: 83,643,218 (GRCm39)		probably benign	Het
Fdxacb1	T	G	9: 50,680,135 (GRCm39)	F107C	probably damaging	Het
Fnbp1	A	T	2: 30,926,606 (GRCm39)	Y433N	probably damaging	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gm15446	T	A	5: 110,088,306 (GRCm39)	Y6*	probably null	Het
Gm45140	T	C	6: 87,796,551 (GRCm39)	H66R		Het
Grin3b	G	A	10: 79,812,868 (GRCm39)	R981Q	unknown	Het
Ipp	T	G	4: 116,368,053 (GRCm39)	I95M	probably benign	Het
Iqca1	A	G	1: 89,973,466 (GRCm39)	F769L	probably damaging	Het
Jkamp	C	T	12: 72,136,832 (GRCm39)	L67F	probably damaging	Het
Llgl2	T	A	11: 115,744,112 (GRCm39)	M773K	probably damaging	Het
Man2b1	A	G	8: 85,823,674 (GRCm39)	T973A	probably benign	Het
Mcm2	T	C	6: 88,869,039 (GRCm39)	Y271C	probably damaging	Het
Msl2	T	C	9: 100,978,159 (GRCm39)	S178P	probably benign	Het
Myo7a	G	T	7: 97,732,833 (GRCm39)	S648*	probably null	Het
Neurl1b	G	T	17: 26,651,201 (GRCm39)	V158F	probably damaging	Het
Nkain2	A	G	10: 32,766,034 (GRCm39)	V142A	unknown	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Oma1	A	T	4: 103,176,232 (GRCm39)		probably benign	Het
Or10ag58	A	T	2: 87,265,364 (GRCm39)	N178Y	possibly damaging	Het
Or5aq7	A	G	2: 86,938,411 (GRCm39)	Y107H	probably damaging	Het
Plekhg6	T	C	6: 125,340,009 (GRCm39)	T784A	probably benign	Het
Prtg	T	C	9: 72,752,265 (GRCm39)	I217T	probably benign	Het
Ptx4	T	C	17: 25,341,753 (GRCm39)	F76S	probably damaging	Het
Rap1b	A	C	10: 117,657,514 (GRCm39)	I55S	probably damaging	Het
Sftpd	T	C	14: 40,894,538 (GRCm39)	T294A	probably benign	Het
Spg11	C	T	2: 121,943,637 (GRCm39)	V172I	probably benign	Het
Srms	T	A	2: 180,848,751 (GRCm39)	H363L	probably damaging	Het
Tbc1d13	A	T	2: 30,037,415 (GRCm39)	M266L	probably damaging	Het
Tbc1d2	A	C	4: 46,649,737 (GRCm39)	C100G	possibly damaging	Het
Tdg	A	T	10: 82,474,627 (GRCm39)	Q39L	probably benign	Het
Tiam1	G	A	16: 89,586,146 (GRCm39)	A1547V	probably benign	Het
Trpm1	A	G	7: 63,858,718 (GRCm39)	E380G	possibly damaging	Het
Unc13b	T	G	4: 43,177,597 (GRCm39)	D2808E	unknown	Het
Usp25	A	T	16: 76,865,943 (GRCm39)	D287V	possibly damaging	Het
Zfp648	A	T	1: 154,079,862 (GRCm39)	Q7L	probably benign	Het
Zfp931	T	C	2: 177,709,709 (GRCm39)	R226G	probably benign	Het
Zfyve9	T	A	4: 108,542,215 (GRCm39)	E201D	probably benign	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
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
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'- GAGTTCCAAGATAGCCTGGTCTAC -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'

Posted On

2020-01-23