Mutagenetix > Incidental Mutation

Incidental Mutation 'R9722:Canx'

730865

Institutional Source

Beutler Lab

Gene Symbol

Canx

Ensembl Gene

ENSMUSG00000020368

Gene Name

calnexin

Synonyms

CNX, 1110069N15Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.930) question?

Stock #

R9722 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

50184788-50216500 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50195301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 256 (S256P)

Ref Sequence

ENSEMBL: ENSMUSP00000137440 (fasta)

Gene Model

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

AlphaFold

P35564

Predicted Effect

probably benign
Transcript: ENSMUST00000020637
AA Change: S256P

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000020637
Gene: ENSMUSG00000020368
AA Change: S256P

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

noncoding transcript
Transcript: ENSMUST00000155801

Predicted Effect

probably benign
Transcript: ENSMUST00000179865
AA Change: S256P

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000137440
Gene: ENSMUSG00000020368
AA Change: S256P

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	T	10: 29,094,269 (GRCm39)	I52F	probably benign	Het
Abcc3	A	T	11: 94,250,072 (GRCm39)	L1017Q	probably damaging	Het
Antxr2	T	C	5: 98,096,186 (GRCm39)	D366G	possibly damaging	Het
Astn2	C	T	4: 65,831,978 (GRCm39)	V563I	probably benign	Het
Atrn	C	A	2: 130,803,536 (GRCm39)	D575E	probably damaging	Het
Baz1a	C	T	12: 54,946,882 (GRCm39)	D1228N	probably benign	Het
Ccnt2	T	A	1: 127,729,925 (GRCm39)	D267E	probably damaging	Het
Cd209c	G	T	8: 3,995,905 (GRCm39)	R2S	probably benign	Het
Cyfip2	T	C	11: 46,087,135 (GRCm39)	T1252A	probably benign	Het
Dchs2	A	G	3: 83,261,301 (GRCm39)	Y2523C	probably benign	Het
Dmxl2	G	A	9: 54,323,892 (GRCm39)	P990L	probably benign	Het
Dnajc9	T	C	14: 20,438,279 (GRCm39)	I108V	probably benign	Het
Eif2d	T	C	1: 131,092,948 (GRCm39)		probably null	Het
Ephb2	T	C	4: 136,384,768 (GRCm39)	D881G	probably damaging	Het
Esr1	A	G	10: 4,951,215 (GRCm39)	N531S	probably benign	Het
Fbxo2	G	A	4: 148,248,883 (GRCm39)	R125H	probably damaging	Het
Foxred1	C	T	9: 35,117,300 (GRCm39)	S277N	possibly damaging	Het
Gemin5	T	C	11: 58,041,418 (GRCm39)	E518G	probably damaging	Het
Gm17655	A	G	5: 110,194,226 (GRCm39)	Y519H	probably benign	Het
Igkv4-57-1	A	T	6: 69,521,493 (GRCm39)	W70R	probably damaging	Het
Krtap4-13	A	G	11: 99,700,180 (GRCm39)	S160P	unknown	Het
Map3k3	A	G	11: 106,033,361 (GRCm39)	I205V	possibly damaging	Het
Map3k4	A	C	17: 12,490,523 (GRCm39)	F303V	probably benign	Het
Mpdz	T	C	4: 81,304,504 (GRCm39)	Q132R	probably damaging	Het
Myo10	T	A	15: 25,801,227 (GRCm39)	V1472E	probably damaging	Het
Nckap1	G	A	2: 80,401,568 (GRCm39)	Q39*	probably null	Het
Nog	A	G	11: 89,192,396 (GRCm39)	S151P	probably damaging	Het
Obox6	G	A	7: 15,568,831 (GRCm39)	S15F	probably benign	Het
Odf2	A	G	2: 29,813,594 (GRCm39)	H647R	possibly damaging	Het
Or6c74	A	G	10: 129,869,500 (GRCm39)	R2G	probably benign	Het
Pcdhga11	T	C	18: 37,890,398 (GRCm39)	S469P	possibly damaging	Het
Pcnx4	T	C	12: 72,603,039 (GRCm39)	Y434H	probably damaging	Het
Pfpl	G	C	19: 12,406,297 (GRCm39)	E183Q	probably damaging	Het
Pglyrp3	A	G	3: 91,938,695 (GRCm39)	K290R	possibly damaging	Het
Phactr3	G	A	2: 177,898,043 (GRCm39)	E86K	probably damaging	Het
Piezo1	A	C	8: 123,225,497 (GRCm39)	L530R		Het
Pigg	A	T	5: 108,495,767 (GRCm39)	I935F	possibly damaging	Het
Pofut2	T	C	10: 77,102,759 (GRCm39)	S282P	possibly damaging	Het
Ppfia1	A	G	7: 144,071,402 (GRCm39)	S337P	probably benign	Het
Sdr16c5	A	T	4: 4,005,595 (GRCm39)	D246E	probably benign	Het
Sgsm1	T	A	5: 113,428,207 (GRCm39)	H327L	possibly damaging	Het
Slc39a4	A	G	15: 76,500,211 (GRCm39)	I113T	possibly damaging	Het
Slc5a7	A	G	17: 54,603,985 (GRCm39)		probably null	Het
Snx11	A	G	11: 96,661,925 (GRCm39)	S86P	probably benign	Het
Srm	T	A	4: 148,676,245 (GRCm39)		probably null	Het
Tas2r126	T	C	6: 42,412,082 (GRCm39)	I205T	possibly damaging	Het
Tek	T	G	4: 94,692,539 (GRCm39)	W216G	possibly damaging	Het
Tenm3	A	T	8: 48,753,849 (GRCm39)	S851R	probably benign	Het
Tnip2	A	G	5: 34,654,212 (GRCm39)	V288A	probably benign	Het
Tpx2	T	A	2: 152,733,476 (GRCm39)		probably null	Het
Trim33	C	A	3: 103,261,146 (GRCm39)	T1115K	possibly damaging	Het
Tspan13	T	A	12: 36,074,017 (GRCm39)	I40F	probably damaging	Het
Ube2v2	T	C	16: 15,394,899 (GRCm39)	I91V	probably benign	Het
Vmn1r22	A	T	6: 57,877,631 (GRCm39)	F115L	probably benign	Het
Vmn2r7	G	A	3: 64,598,407 (GRCm39)	P717S	probably damaging	Het
Zan	T	C	5: 137,387,324 (GRCm39)	T4910A	unknown	Het
Zfp599	T	A	9: 22,160,741 (GRCm39)	T475S	probably damaging	Het
Zfp638	T	A	6: 83,923,301 (GRCm39)	F700I	probably damaging	Het
Zfp985	A	C	4: 147,667,618 (GRCm39)	K162T	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
R8941:Canx	UTSW	11	50,195,270 (GRCm39)	missense	possibly damaging	0.90
R9153:Canx	UTSW	11	50,188,162 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCTAATACTCAAAGATGGATCTCC -3'
(R):5'- CCAGGCTCTTAAAGAACTAGGCTTTG -3'

Sequencing Primer
(F):5'- GGATCTCCAAGATTTACCAGTCATC -3'
(R):5'- GAACTAGGCTTTGTTGACTATGACAG -3'

Posted On

2022-10-06