Mutagenetix > Incidental Mutation

Incidental Mutation 'R4385:Calr3'

500603

Institutional Source

Beutler Lab

Gene Symbol

Calr3

Ensembl Gene

ENSMUSG00000019732

Gene Name

calreticulin 3

Synonyms

6330586I20Rik, calsperin, 1700031L01Rik, Crt2

MMRRC Submission

041124-MU

Accession Numbers

Essential gene?

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

Stock #

R4385 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73178020-73197638 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73182008 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 120 (D120V)

Ref Sequence

ENSEMBL: ENSMUSP00000105601 (fasta)

Gene Model

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

AlphaFold

Q9D9Q6

Predicted Effect

probably damaging
Transcript: ENSMUST00000019876
AA Change: D228V

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

SMART Domains

Protein: ENSMUSP00000019876
Gene: ENSMUSG00000019732
AA Change: D228V

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: D120V

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

SMART Domains

Protein: ENSMUSP00000105601
Gene: ENSMUSG00000019732
AA Change: D120V

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

Meta Mutation Damage Score

0.7187

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	T	11: 94,259,065 (GRCm39)	I426N	probably damaging	Het
Abcc6	C	T	7: 45,644,752 (GRCm39)	V808I	possibly damaging	Het
Adam23	T	C	1: 63,605,787 (GRCm39)	Y624H	probably damaging	Het
Apbb1	A	G	7: 105,216,483 (GRCm39)	S140P	probably benign	Het
Arhgef10	T	A	8: 14,980,157 (GRCm39)	C132*	probably null	Het
Boc	A	T	16: 44,311,545 (GRCm39)	L726H	probably damaging	Het
Cdc27	T	C	11: 104,425,640 (GRCm39)	R59G	probably benign	Het
Cfap43	T	C	19: 47,785,568 (GRCm39)	R441G	probably benign	Het
Chsy3	A	G	18: 59,309,424 (GRCm39)	I226V	probably benign	Het
Chsy3	A	T	18: 59,312,546 (GRCm39)	T340S	possibly damaging	Het
Cnot10	T	A	9: 114,460,949 (GRCm39)	K74*	probably null	Het
Col5a1	A	C	2: 27,914,791 (GRCm39)	M136L	probably damaging	Het
Coro2a	A	T	4: 46,541,961 (GRCm39)	I387N	possibly damaging	Het
Csnk1g1	T	C	9: 65,927,190 (GRCm39)	V119A	probably damaging	Het
Cyfip2	C	T	11: 46,133,230 (GRCm39)	M823I	probably benign	Het
Dcbld2	A	G	16: 58,283,429 (GRCm39)	K555E	probably damaging	Het
Dpep3	A	G	8: 106,704,818 (GRCm39)	M164T	probably damaging	Het
Flg	C	A	3: 93,200,316 (GRCm39)		probably benign	Het
Hecw1	C	T	13: 14,490,749 (GRCm39)	D748N	probably damaging	Het
Ift172	T	C	5: 31,444,311 (GRCm39)	D37G	probably damaging	Het
Iglc1	A	T	16: 18,880,508 (GRCm39)	C104*	probably null	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klk1	A	T	7: 43,877,993 (GRCm39)	D83V	probably benign	Het
Klk1b9	T	C	7: 43,443,699 (GRCm39)	V71A	probably benign	Het
Loxhd1	A	G	18: 77,460,607 (GRCm39)	K806R	probably damaging	Het
Metap1	T	C	3: 138,180,824 (GRCm39)	E119G	possibly damaging	Het
Nbea	T	C	3: 55,908,059 (GRCm39)	H1351R	possibly damaging	Het
Nim1k	T	C	13: 120,174,162 (GRCm39)	D244G	probably damaging	Het
Npas1	C	T	7: 16,193,110 (GRCm39)		probably null	Het
Pcdh15	A	G	10: 74,386,322 (GRCm39)	D1136G	probably damaging	Het
Pde6b	A	G	5: 108,575,508 (GRCm39)	I657V	probably benign	Het
Pi4ka	A	G	16: 17,204,129 (GRCm39)	V55A	probably benign	Het
Plxnb2	T	C	15: 89,044,826 (GRCm39)	N1173S	probably damaging	Het
Pramel23	C	T	4: 143,424,584 (GRCm39)		probably null	Het
Ptpn13	T	C	5: 103,681,273 (GRCm39)		probably null	Het
Ptprb	A	G	10: 116,182,772 (GRCm39)	S1483G	probably benign	Het
Rbm48	G	A	5: 3,640,300 (GRCm39)	P360S	probably damaging	Het
Rbp3	G	C	14: 33,677,253 (GRCm39)	E400D	probably benign	Het
Resf1	T	C	6: 149,227,706 (GRCm39)	S251P	possibly damaging	Het
Rfpl4	A	G	7: 5,113,669 (GRCm39)	S165P	possibly damaging	Het
Scn9a	A	T	2: 66,314,900 (GRCm39)	L1595Q	probably damaging	Het
Scp2	A	T	4: 107,928,547 (GRCm39)	V381D	probably damaging	Het
Sec24c	G	A	14: 20,740,841 (GRCm39)	V620M	probably damaging	Het
Slc30a9	T	C	5: 67,473,110 (GRCm39)	Y65H	probably damaging	Het
Sorcs1	A	G	19: 50,178,599 (GRCm39)	I841T	probably benign	Het
Sp140l1	C	T	1: 85,087,057 (GRCm39)		probably null	Het
Spag7	C	T	11: 70,560,029 (GRCm39)	A27T	probably damaging	Het
St6galnac6	A	G	2: 32,505,036 (GRCm39)	I181V	possibly damaging	Het
Tm9sf3	T	C	19: 41,236,372 (GRCm39)	M130V	probably damaging	Het
Ugt3a1	C	T	15: 9,306,565 (GRCm39)	S238F	probably benign	Het
Usp9y	G	A	Y: 1,304,756 (GRCm39)	L2363F	probably damaging	Het
Vmn1r34	T	A	6: 66,614,123 (GRCm39)	H205L	probably damaging	Het
Vps50	C	A	6: 3,516,694 (GRCm39)	Q59K	probably benign	Het
Zeb2	T	A	2: 44,913,074 (GRCm39)	D39V	probably damaging	Het
Zfp146	G	A	7: 29,861,847 (GRCm39)	T65I	probably benign	Het
Zfp36	T	C	7: 28,077,116 (GRCm39)	D264G	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTTTCTAAGAGCACAAATGGGGC -3'
(R):5'- ATGTGTGCTCCCTAGGTTTC -3'

Sequencing Primer
(F):5'- GCAGGAGCAAGGGCCAC -3'
(R):5'- GCAATGAGGACCCAAGTTTGATTTC -3'

Posted On

2017-12-01