Mutagenetix > Incidental Mutations

Incidental Mutation 'R1675:Calr3'

188003

Institutional Source

Beutler Lab

Gene Symbol

Calr3

Ensembl Gene

ENSMUSG00000019732

Gene Name

calreticulin 3

Synonyms

Crt2, 6330586I20Rik, calsperin, 1700031L01Rik

MMRRC Submission

039711-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R1675 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72424176-72443870 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72431458 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 91 (D91G)

Ref Sequence

ENSEMBL: ENSMUSP00000105601 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000019876
AA Change: D199G

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

SMART Domains

Protein: ENSMUSP00000019876
Gene: ENSMUSG00000019732
AA Change: D199G

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 damaging
Transcript: ENSMUST00000109974
AA Change: D91G

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

SMART Domains

Protein: ENSMUSP00000105601
Gene: ENSMUSG00000019732
AA Change: D91G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120752

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.5%
20x: 93.1%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	T	1: 71,263,411		probably null	Het
Adam6b	T	C	12: 113,491,044	Y494H	probably benign	Het
Adamtsl2	GC	G	2: 27,082,485		probably null	Het
Anapc2	G	A	2: 25,272,639	V42M	possibly damaging	Het
Aph1a	T	A	3: 95,894,899	D64E	possibly damaging	Het
Arhgef11	C	T	3: 87,731,211	A1111V	possibly damaging	Het
Atoh1	T	C	6: 64,730,157	S279P	probably benign	Het
Atp10b	A	G	11: 43,225,648	T941A	probably damaging	Het
Barhl1	C	T	2: 28,915,411	R90Q	possibly damaging	Het
Ccdc148	T	C	2: 58,980,554	D317G	probably damaging	Het
Cnn3	C	T	3: 121,457,169	Q19*	probably null	Het
Cul5	T	C	9: 53,646,683	D207G	probably benign	Het
Cyp4x1	T	C	4: 115,127,560	E41G	possibly damaging	Het
Dagla	T	A	19: 10,269,323	M138L	probably benign	Het
Dnah6	A	T	6: 73,129,540	M1738K	probably damaging	Het
Eif4enif1	T	A	11: 3,215,686	S88T	probably benign	Het
Eno3	T	C	11: 70,658,666		probably null	Het
Erbb3	C	A	10: 128,571,204	S1029I	probably damaging	Het
Erbin	C	A	13: 103,841,178	V624L	probably damaging	Het
Fam170b	C	T	14: 32,835,402	Q65*	probably null	Het
Fam208b	T	C	13: 3,569,507	I2241M	possibly damaging	Het
Gin1	T	A	1: 97,786,055	L360*	probably null	Het
Gldc	A	T	19: 30,143,453	D359E	probably damaging	Het
Gpr107	A	T	2: 31,167,051	T52S	possibly damaging	Het
Hip1r	A	G	5: 123,994,820	Y227C	probably damaging	Het
Hmgxb3	A	G	18: 61,135,559	L1004P	probably damaging	Het
Hspa1l	A	G	17: 34,977,443	N153D	probably damaging	Het
Itga8	C	A	2: 12,200,163	V488L	probably damaging	Het
Kcnk10	G	A	12: 98,496,288	A134V	probably benign	Het
Kif18a	T	A	2: 109,298,403	C406S	probably benign	Het
Klhl28	A	T	12: 64,951,819	S300R	probably damaging	Het
Kmt2e	C	T	5: 23,482,453	Q434*	probably null	Het
Lilrb4a	A	G	10: 51,496,185	T222A	probably benign	Het
Lipn	G	A	19: 34,080,710	R277Q	probably damaging	Het
Lrrc61	G	A	6: 48,568,774	R177Q	possibly damaging	Het
Lrrc74a	G	A	12: 86,741,026	E144K	probably damaging	Het
Mal	T	C	2: 127,635,044	Y77C	probably benign	Het
Map1a	T	A	2: 121,302,655	C1079*	probably null	Het
Mbd5	T	A	2: 49,256,218	S147T	possibly damaging	Het
Nsd2	T	A	5: 33,861,149	M509K	probably benign	Het
Olfr1342	C	T	4: 118,689,948	R168H	probably benign	Het
Olfr262	C	T	19: 12,240,831	V277I	probably benign	Het
Olfr414	T	C	1: 174,431,097	V223A	probably benign	Het
Olfr51	T	C	11: 51,007,637	F222L	probably benign	Het
Rcor2	C	T	19: 7,270,181	L45F	probably damaging	Het
Rpl12	T	A	2: 32,963,525	D107E	probably benign	Het
Rpl7l1	A	T	17: 46,778,191	F205I	probably damaging	Het
Samd4b	C	T	7: 28,414,010	G177R	probably damaging	Het
Sema4a	A	T	3: 88,454,766	F18I	possibly damaging	Het
Slc37a1	A	T	17: 31,338,074	T405S	probably damaging	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Syt14	T	C	1: 192,897,482	D781G	probably damaging	Het
Tprn	T	G	2: 25,264,409	D574E	probably benign	Het
Trim75	T	A	8: 64,982,511	E429V	probably damaging	Het
Trit1	C	T	4: 123,054,236	R450C	possibly damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Unc13c	A	G	9: 73,639,050		probably null	Het
Usp49	C	A	17: 47,673,410	L447I	probably damaging	Het
Vmn1r20	T	C	6: 57,431,952	C88R	probably benign	Het
Zfp94	T	A	7: 24,302,834	K394N	probably damaging	Het

Other mutations in Calr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Calr3	APN	8	72431396	nonsense	probably null
IGL01358:Calr3	APN	8	72427213	nonsense	probably null
IGL02440:Calr3	APN	8	72431432	missense	probably benign	0.30
IGL02646:Calr3	APN	8	72443460	missense	possibly damaging	0.89
IGL02882:Calr3	APN	8	72434821	missense	probably damaging	0.99
IGL02945:Calr3	APN	8	72438557	missense	probably damaging	1.00
IGL03025:Calr3	APN	8	72434891	splice site	probably benign
IGL03175:Calr3	APN	8	72443605	missense	probably damaging	1.00
R0140:Calr3	UTSW	8	72434888	splice site	probably benign
R1518:Calr3	UTSW	8	72427200	missense	probably damaging	0.97
R2006:Calr3	UTSW	8	72434851	missense	probably damaging	1.00
R2111:Calr3	UTSW	8	72427268	missense	probably damaging	0.99
R2202:Calr3	UTSW	8	72434839	missense	probably damaging	1.00
R2296:Calr3	UTSW	8	72424625	unclassified	probably benign
R2432:Calr3	UTSW	8	72438426	unclassified	probably benign
R3946:Calr3	UTSW	8	72443620	missense	probably damaging	1.00
R4382:Calr3	UTSW	8	72428164	missense	probably damaging	1.00
R4383:Calr3	UTSW	8	72428164	missense	probably damaging	1.00
R4384:Calr3	UTSW	8	72428164	missense	probably damaging	1.00
R4385:Calr3	UTSW	8	72428164	missense	probably damaging	1.00
R4943:Calr3	UTSW	8	72431377	missense	probably benign	0.18
R5132:Calr3	UTSW	8	72431368	splice site	probably null
R7337:Calr3	UTSW	8	72431495	missense	probably damaging	1.00
R7879:Calr3	UTSW	8	72424643	missense	unknown
R8132:Calr3	UTSW	8	72427179	missense	probably damaging	1.00
R8703:Calr3	UTSW	8	72438447	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGAAGCTACAGTGCAAGCAGG -3'
(R):5'- AGTCAGGTATAGTGGTACAGTGCTCG -3'

Sequencing Primer
(F):5'- CTGGACTTTACTGCCTTCCA -3'
(R):5'- tgtgccacccccaacag -3'

Posted On

2014-05-09