Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02945:Calr3'

364693

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 #

IGL02945

Quality Score

Status

Chromosome

Chromosomal Location

73178020-73197638 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73192401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 91 (L91Q)

Ref Sequence

ENSEMBL: ENSMUSP00000019876 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019876] [ENSMUST00000109974]

AlphaFold

Q9D9Q6

Predicted Effect

probably damaging
Transcript: ENSMUST00000019876
AA Change: L91Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000019876
Gene: ENSMUSG00000019732
AA Change: L91Q

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: ENSMUST00000109974

SMART Domains

Protein: ENSMUSP00000105601
Gene: ENSMUSG00000019732

Domain	Start	End	E-Value	Type
Pfam:Calreticulin	23	207	7.9e-32	PFAM
low complexity region	237	251	N/A	INTRINSIC
low complexity region	257	268	N/A	INTRINSIC

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933411G06Rik	A	T	10: 51,633,095 (GRCm39)		noncoding transcript	Het
Adgrf4	T	C	17: 42,978,257 (GRCm39)	Q362R	probably benign	Het
Akap6	A	G	12: 52,927,620 (GRCm39)	N177D	probably damaging	Het
Alms1	A	G	6: 85,597,915 (GRCm39)	I914V	probably damaging	Het
Arhgap11a	A	T	2: 113,667,818 (GRCm39)	S394R	possibly damaging	Het
Cacna1h	C	T	17: 25,607,033 (GRCm39)	V962I	probably damaging	Het
Ccnf	T	C	17: 24,443,890 (GRCm39)	E626G	probably damaging	Het
Clec10a	A	T	11: 70,061,368 (GRCm39)	I295F	possibly damaging	Het
Cop1	A	T	1: 159,134,259 (GRCm39)	N167I	probably benign	Het
Csmd1	G	T	8: 16,321,584 (GRCm39)	Q505K	possibly damaging	Het
Ctrc	A	C	4: 141,573,563 (GRCm39)	V6G	possibly damaging	Het
Cyp2c69	T	C	19: 39,875,091 (GRCm39)	R21G	possibly damaging	Het
Dnah5	A	G	15: 28,270,572 (GRCm39)	H958R	probably benign	Het
Egfr	T	A	11: 16,702,514 (GRCm39)	L11Q	probably damaging	Het
Erich2	A	G	2: 70,364,738 (GRCm39)	T371A	probably damaging	Het
Fbxl21	T	A	13: 56,674,983 (GRCm39)	F111L	probably damaging	Het
Grik4	G	T	9: 42,509,175 (GRCm39)	T416N	possibly damaging	Het
Grin3a	A	G	4: 49,792,971 (GRCm39)	V254A	possibly damaging	Het
Hat1	G	A	2: 71,251,037 (GRCm39)	R195K	probably benign	Het
Hmgb4	A	C	4: 128,154,387 (GRCm39)	Y60*	probably null	Het
Ighv12-3	A	G	12: 114,330,337 (GRCm39)	W53R	probably damaging	Het
Irs2	C	A	8: 11,057,781 (GRCm39)	C217F	probably damaging	Het
Kcnb1	T	C	2: 167,030,308 (GRCm39)	E79G	probably benign	Het
Lingo3	A	G	10: 80,670,532 (GRCm39)	I466T	probably damaging	Het
Lyst	T	C	13: 13,935,783 (GRCm39)	S3665P	possibly damaging	Het
Myh9	A	T	15: 77,646,205 (GRCm39)	L1926Q	probably benign	Het
Myom1	A	G	17: 71,399,088 (GRCm39)		probably benign	Het
Nbeal1	T	C	1: 60,245,569 (GRCm39)	F198L	probably damaging	Het
Nktr	A	G	9: 121,557,697 (GRCm39)	T63A	probably damaging	Het
Nle1	A	T	11: 82,794,910 (GRCm39)		probably benign	Het
Nr3c2	A	T	8: 77,636,288 (GRCm39)	D463V	probably damaging	Het
Or5k17	A	T	16: 58,746,703 (GRCm39)	I77N	probably damaging	Het
Or8b43	A	G	9: 38,360,812 (GRCm39)	I215V	probably benign	Het
Pcdhb18	T	C	18: 37,623,048 (GRCm39)	I126T	probably benign	Het
Pgm1	A	G	4: 99,818,731 (GRCm39)	I127V	probably benign	Het
Rai14	A	G	15: 10,574,795 (GRCm39)	I721T	probably benign	Het
Rps6ka1	A	G	4: 133,594,510 (GRCm39)	Y57H	probably damaging	Het
Scara3	T	A	14: 66,168,660 (GRCm39)	D319V	probably damaging	Het
Selp	G	A	1: 163,961,498 (GRCm39)	G404S	probably damaging	Het
Serinc3	A	G	2: 163,472,836 (GRCm39)		probably benign	Het
Slc4a8	A	G	15: 100,705,080 (GRCm39)		probably null	Het
Spen	G	T	4: 141,221,624 (GRCm39)	L325I	unknown	Het
Sphkap	A	T	1: 83,254,552 (GRCm39)	S779T	probably damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Thumpd1	A	T	7: 119,315,970 (GRCm39)	S326R	possibly damaging	Het
Tmem255b	T	C	8: 13,505,141 (GRCm39)	S149P	probably damaging	Het
Tnni3k	A	T	3: 154,743,075 (GRCm39)	S95T	possibly damaging	Het
Trim66	G	A	7: 109,059,383 (GRCm39)	Q954*	probably null	Het
Ttn	A	T	2: 76,582,316 (GRCm39)	I22859N	probably damaging	Het
Zfp319	A	T	8: 96,050,446 (GRCm39)		probably benign	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
IGL02646:Calr3	APN	8	73,197,304 (GRCm39)	missense	possibly damaging	0.89
IGL02882:Calr3	APN	8	73,188,665 (GRCm39)	missense	probably damaging	0.99
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

2015-12-18