Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02646:Calr3'

301940

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Calr3

Ensembl Gene

ENSMUSG00000019732

Gene Name

calreticulin 3

Synonyms

6330586I20Rik, calsperin, 1700031L01Rik, Crt2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

IGL02646

Quality Score

Status

Chromosome

Chromosomal Location

73178020-73197638 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 73197304 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 43 (D43A)

Ref Sequence

ENSEMBL: ENSMUSP00000019876 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019876] [ENSMUST00000064853] [ENSMUST00000121902]

AlphaFold

Q9D9Q6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019876
AA Change: D43A

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000019876
Gene: ENSMUSG00000019732
AA Change: D43A

Domain	Start	End	E-Value	Type
Pfam:Calreticulin	23	256	5.7e-40	PFAM
Pfam:Calreticulin	255	315	6.6e-7	PFAM
low complexity region	345	359	N/A	INTRINSIC
low complexity region	365	376	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000064853

SMART Domains

Protein: ENSMUSP00000063244
Gene: ENSMUSG00000052794

Domain	Start	End	E-Value	Type
low complexity region	200	216	N/A	INTRINSIC
low complexity region	250	262	N/A	INTRINSIC
low complexity region	320	333	N/A	INTRINSIC
low complexity region	374	383	N/A	INTRINSIC
low complexity region	421	432	N/A	INTRINSIC
Pfam:DUF4614	438	608	2e-71	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121902

SMART Domains

Protein: ENSMUSP00000113279
Gene: ENSMUSG00000052794

Domain	Start	End	E-Value	Type
low complexity region	200	216	N/A	INTRINSIC
low complexity region	250	262	N/A	INTRINSIC
low complexity region	320	333	N/A	INTRINSIC
low complexity region	387	398	N/A	INTRINSIC
Pfam:DUF4614	400	575	1.3e-75	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the calreticulin family, members of which are calcium-binding chaperones localized mainly in the endoplasmic reticulum. This protein is also localized to the endoplasmic reticulum lumen, however, its capacity for calcium-binding may be absent or much lower than other family members. This gene is specifically expressed in the testis, and may be required for sperm fertility. Mutation in this gene has been associated with familial hypertrophic cardiomyopathy. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility associated with impaired zona pellucida binding and fertilization. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	T	A	4: 137,182,101 (GRCm39)	Y85*	probably null	Het
Abcg2	A	G	6: 58,662,681 (GRCm39)	I508V	probably benign	Het
Adgrb2	T	C	4: 129,913,075 (GRCm39)		probably null	Het
Api5	T	A	2: 94,260,184 (GRCm39)	H24L	possibly damaging	Het
Apoh	T	C	11: 108,302,968 (GRCm39)	V311A	probably benign	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Brca2	G	T	5: 150,484,255 (GRCm39)	V2994L	possibly damaging	Het
Brd1	A	T	15: 88,585,080 (GRCm39)	V918D	probably damaging	Het
Cdh16	T	C	8: 105,348,737 (GRCm39)		probably null	Het
Cep192	T	C	18: 67,995,548 (GRCm39)	S2033P	probably damaging	Het
Dnah7a	G	A	1: 53,564,194 (GRCm39)	T1955M	probably damaging	Het
Dock10	T	A	1: 80,551,840 (GRCm39)	Y665F	probably damaging	Het
Dync1i1	A	G	6: 5,767,034 (GRCm39)	D86G	probably benign	Het
Eri2	T	C	7: 119,385,331 (GRCm39)	D390G	possibly damaging	Het
Fank1	C	T	7: 133,481,758 (GRCm39)		probably benign	Het
Hoxb7	A	T	11: 96,177,570 (GRCm39)	Y6F	possibly damaging	Het
Hspg2	A	C	4: 137,279,159 (GRCm39)	S3081R	possibly damaging	Het
Kcnt1	T	A	2: 25,790,892 (GRCm39)		probably benign	Het
Med13	A	G	11: 86,174,212 (GRCm39)	I1762T	probably benign	Het
Mia2	A	G	12: 59,155,622 (GRCm39)	D445G	probably damaging	Het
Or8h9	T	C	2: 86,789,697 (GRCm39)	Y35C	probably damaging	Het
Plcg2	A	T	8: 118,330,622 (GRCm39)	I827F	possibly damaging	Het
Poglut3	A	G	9: 53,295,551 (GRCm39)	D51G	probably benign	Het
Rnls	C	A	19: 33,115,684 (GRCm39)		probably benign	Het
Scn1a	A	T	2: 66,129,962 (GRCm39)		probably null	Het
Sec22b	T	A	3: 97,828,561 (GRCm39)	V208E	possibly damaging	Het
Slc8a3	A	T	12: 81,361,868 (GRCm39)	I317N	probably damaging	Het
Snx33	A	G	9: 56,834,043 (GRCm39)	Y9H	probably damaging	Het
Stard9	C	A	2: 120,529,473 (GRCm39)	T1910N	probably damaging	Het
Tas2r122	T	A	6: 132,688,753 (GRCm39)	I47F	probably damaging	Het
Tedc1	T	G	12: 113,120,921 (GRCm39)	L118V	possibly damaging	Het
Tln2	A	T	9: 67,163,278 (GRCm39)	S1090T	probably benign	Het
Tpcn2	T	C	7: 144,812,311 (GRCm39)	D511G	probably benign	Het
Usp21	T	C	1: 171,110,669 (GRCm39)		probably benign	Het
Vmn2r17	T	A	5: 109,600,946 (GRCm39)	L748Q	probably damaging	Het
Zp2	T	C	7: 119,734,564 (GRCm39)	D495G	possibly damaging	Het

Other mutations in Calr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Calr3	APN	8	73,185,240 (GRCm39)	nonsense	probably null
IGL01358:Calr3	APN	8	73,181,057 (GRCm39)	nonsense	probably null
IGL02440:Calr3	APN	8	73,185,276 (GRCm39)	missense	probably benign	0.30
IGL02882:Calr3	APN	8	73,188,665 (GRCm39)	missense	probably damaging	0.99
IGL02945:Calr3	APN	8	73,192,401 (GRCm39)	missense	probably damaging	1.00
IGL03025:Calr3	APN	8	73,188,735 (GRCm39)	splice site	probably benign
IGL03175:Calr3	APN	8	73,197,449 (GRCm39)	missense	probably damaging	1.00
R0140:Calr3	UTSW	8	73,188,732 (GRCm39)	splice site	probably benign
R1518:Calr3	UTSW	8	73,181,044 (GRCm39)	missense	probably damaging	0.97
R1675:Calr3	UTSW	8	73,185,302 (GRCm39)	missense	probably damaging	1.00
R2006:Calr3	UTSW	8	73,188,695 (GRCm39)	missense	probably damaging	1.00
R2111:Calr3	UTSW	8	73,181,112 (GRCm39)	missense	probably damaging	0.99
R2202:Calr3	UTSW	8	73,188,683 (GRCm39)	missense	probably damaging	1.00
R2296:Calr3	UTSW	8	73,178,469 (GRCm39)	unclassified	probably benign
R2432:Calr3	UTSW	8	73,192,270 (GRCm39)	unclassified	probably benign
R3946:Calr3	UTSW	8	73,197,464 (GRCm39)	missense	probably damaging	1.00
R4382:Calr3	UTSW	8	73,182,008 (GRCm39)	missense	probably damaging	1.00
R4383:Calr3	UTSW	8	73,182,008 (GRCm39)	missense	probably damaging	1.00
R4384:Calr3	UTSW	8	73,182,008 (GRCm39)	missense	probably damaging	1.00
R4385:Calr3	UTSW	8	73,182,008 (GRCm39)	missense	probably damaging	1.00
R4943:Calr3	UTSW	8	73,185,221 (GRCm39)	missense	probably benign	0.18
R5132:Calr3	UTSW	8	73,185,212 (GRCm39)	splice site	probably null
R7337:Calr3	UTSW	8	73,185,339 (GRCm39)	missense	probably damaging	1.00
R7879:Calr3	UTSW	8	73,178,487 (GRCm39)	missense	unknown
R8132:Calr3	UTSW	8	73,181,023 (GRCm39)	missense	probably damaging	1.00
R8703:Calr3	UTSW	8	73,192,291 (GRCm39)	missense	probably damaging	1.00
R9064:Calr3	UTSW	8	73,188,674 (GRCm39)	missense	possibly damaging	0.72
R9314:Calr3	UTSW	8	73,178,535 (GRCm39)	missense	possibly damaging	0.89

Posted On

2015-04-16