Mutagenetix > Incidental Mutation

Incidental Mutation 'R5752:Clgn'

444852

Institutional Source

Beutler Lab

Gene Symbol

Clgn

Ensembl Gene

ENSMUSG00000002190

Gene Name

calmegin

Synonyms

calnexin-t, Cln, 4930459O04Rik, A2/6

MMRRC Submission

043357-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.369) question?

Stock #

R5752 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84116496-84155181 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84123670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 61 (Y61N)

Ref Sequence

ENSEMBL: ENSMUSP00000105457 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002259] [ENSMUST00000109831]

AlphaFold

P52194

Predicted Effect

probably damaging
Transcript: ENSMUST00000002259
AA Change: Y61N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000002259
Gene: ENSMUSG00000002190
AA Change: Y61N

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Calreticulin	62	429	6.6e-160	PFAM
transmembrane domain	471	493	N/A	INTRINSIC
low complexity region	516	533	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109831
AA Change: Y61N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105457
Gene: ENSMUSG00000002190
AA Change: Y61N

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Calreticulin	60	429	1.9e-154	PFAM
transmembrane domain	471	493	N/A	INTRINSIC
low complexity region	516	533	N/A	INTRINSIC

Meta Mutation Damage Score

0.4387

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

98% (58/59)

MGI Phenotype

FUNCTION: This gene belongs to the calreticulin family, which includes calreticulin, calnexin, and calmegin, and encodes a calcium-binding molecular chaperone specifically expressed in pachytene stage male germ cells. It is required for the proper folding of newly synthesized membrane proteins in the endoplasmic reticulum including those critical for sperm migration from the uterus into the oviduct and sperm adhesion to and penetration of the zona pellucida. This gene plays a key role in spermatogenesis and male infertility. Alternative splice variants exist for this gene. [provided by RefSeq, Jul 2016]
PHENOTYPE: Males homozygous for a targeted null mutation exhibit severely impaired fertility associated with an apparent defect in either sperm/zona pellucida binding and/or sperm transit to the oviduct. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330017A19Rik	C	A	17: 47,200,966 (GRCm39)		probably benign	Het
Aldh1l2	C	A	10: 83,356,244 (GRCm39)	G49C	probably damaging	Het
Arhgap26	G	A	18: 39,419,725 (GRCm39)	E11K	probably damaging	Het
Asns	C	T	6: 7,689,365 (GRCm39)	G46S	probably damaging	Het
Atrn	G	T	2: 130,748,464 (GRCm39)		probably benign	Het
Cep126	A	C	9: 8,120,746 (GRCm39)	Y92*	probably null	Het
Cfap69	T	C	5: 5,639,204 (GRCm39)	T567A	probably damaging	Het
Col28a1	T	G	6: 8,015,025 (GRCm39)	K793N	possibly damaging	Het
Cxcl9	C	A	5: 92,471,715 (GRCm39)	M108I	probably benign	Het
Cyp4f37	A	T	17: 32,850,306 (GRCm39)	I318F	probably damaging	Het
Daam1	T	C	12: 71,993,320 (GRCm39)	M363T	unknown	Het
Dnajc13	A	C	9: 104,069,973 (GRCm39)		probably null	Het
Entpd2	G	A	2: 25,289,781 (GRCm39)		probably benign	Het
F3	T	A	3: 121,526,053 (GRCm39)	N205K	probably damaging	Het
Fat2	A	T	11: 55,180,063 (GRCm39)	F1426Y	possibly damaging	Het
Galnt6	A	T	15: 100,602,007 (GRCm39)	F267I	probably damaging	Het
Gm1322	G	A	2: 67,014,979 (GRCm39)		noncoding transcript	Het
Hdgfl3	A	C	7: 81,549,451 (GRCm39)	S143A	possibly damaging	Het
Ints7	T	A	1: 191,308,005 (GRCm39)	D12E	probably benign	Het
Kank3	A	G	17: 34,037,037 (GRCm39)	T114A	probably benign	Het
Lrp1b	A	G	2: 41,185,624 (GRCm39)	Y1364H	probably damaging	Het
Mef2b	A	G	8: 70,618,267 (GRCm39)	T116A	possibly damaging	Het
Megf8	C	T	7: 25,054,539 (GRCm39)	T1885I	probably damaging	Het
Mrps11	A	G	7: 78,433,343 (GRCm39)	K30E	probably benign	Het
Naca	T	A	10: 127,877,797 (GRCm39)		probably benign	Het
Ncoa4-ps	A	G	12: 119,226,349 (GRCm39)		noncoding transcript	Het
Nhsl3	GGTG	GGTGTG	4: 129,117,773 (GRCm39)		probably null	Het
Or2at1	T	C	7: 99,417,155 (GRCm39)	I262T	probably benign	Het
Paip2b	C	T	6: 83,808,252 (GRCm39)		probably null	Het
Plcb2	G	T	2: 118,541,532 (GRCm39)		probably benign	Het
Plcd4	A	G	1: 74,587,131 (GRCm39)		probably null	Het
Pnpla8	A	G	12: 44,329,670 (GRCm39)	N74S	probably benign	Het
Pot1b	A	T	17: 55,994,834 (GRCm39)	I276N	probably damaging	Het
Qprt	C	T	7: 126,708,416 (GRCm39)	G5D	probably benign	Het
Rab11fip1	T	C	8: 27,646,614 (GRCm39)	N154S	probably damaging	Het
Rin3	G	A	12: 102,279,378 (GRCm39)		probably benign	Het
Sdf4	C	T	4: 156,080,761 (GRCm39)	P37S	probably damaging	Het
Selp	A	T	1: 163,964,811 (GRCm39)	D491V	probably damaging	Het
Sh3gl3	A	G	7: 81,824,696 (GRCm39)		probably benign	Het
Sp110	G	C	1: 85,504,923 (GRCm39)		probably benign	Het
Spata31d1e	T	C	13: 59,891,016 (GRCm39)	Y268C	probably damaging	Het
Tas2r134	A	G	2: 51,517,880 (GRCm39)	R120G	probably damaging	Het
Tgfbr3	T	C	5: 107,287,673 (GRCm39)	R509G	probably benign	Het
Tle3	T	A	9: 61,314,753 (GRCm39)	Y231N	probably damaging	Het
Top6bl	C	A	19: 4,676,048 (GRCm39)	A695S	probably benign	Het
Ttc41	C	T	10: 86,594,210 (GRCm39)	T881I	probably benign	Het
Ttll8	T	C	15: 88,816,931 (GRCm39)	Y271C	probably benign	Het
Ttn	A	T	2: 76,778,328 (GRCm39)	I1307K	possibly damaging	Het
Ube2k	A	G	5: 65,723,411 (GRCm39)	D48G	probably damaging	Het
Vcan	T	C	13: 89,828,069 (GRCm39)	T3126A	probably damaging	Het
Vps13d	T	C	4: 144,875,540 (GRCm39)	T1656A	probably benign	Het
Zzz3	C	A	3: 152,157,759 (GRCm39)	S777R	possibly damaging	Het

Other mutations in Clgn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01729:Clgn	APN	8	84,124,279 (GRCm39)	missense	probably damaging	1.00
IGL02158:Clgn	APN	8	84,149,765 (GRCm39)	missense	probably damaging	1.00
IGL03077:Clgn	APN	8	84,150,769 (GRCm39)	missense	probably benign	0.05
PIT4260001:Clgn	UTSW	8	84,149,753 (GRCm39)	missense	probably damaging	0.99
R0604:Clgn	UTSW	8	84,150,823 (GRCm39)	missense	probably benign	0.01
R1728:Clgn	UTSW	8	84,149,659 (GRCm39)	missense	probably damaging	0.98
R1729:Clgn	UTSW	8	84,149,659 (GRCm39)	missense	probably damaging	0.98
R2059:Clgn	UTSW	8	84,126,607 (GRCm39)	missense	probably benign	0.01
R2182:Clgn	UTSW	8	84,137,039 (GRCm39)	missense	possibly damaging	0.80
R3821:Clgn	UTSW	8	84,147,106 (GRCm39)	missense	probably null	0.02
R4542:Clgn	UTSW	8	84,146,838 (GRCm39)	missense	probably damaging	1.00
R5097:Clgn	UTSW	8	84,137,152 (GRCm39)	missense	possibly damaging	0.90
R5677:Clgn	UTSW	8	84,136,167 (GRCm39)	missense	probably damaging	1.00
R5802:Clgn	UTSW	8	84,152,243 (GRCm39)	missense	probably damaging	1.00
R6584:Clgn	UTSW	8	84,126,665 (GRCm39)	missense	probably benign	0.33
R7542:Clgn	UTSW	8	84,122,174 (GRCm39)	missense	possibly damaging	0.90
R7563:Clgn	UTSW	8	84,147,185 (GRCm39)	missense	probably damaging	1.00
R7819:Clgn	UTSW	8	84,134,829 (GRCm39)	missense	possibly damaging	0.87
R9081:Clgn	UTSW	8	84,153,169 (GRCm39)	missense	probably damaging	1.00
R9351:Clgn	UTSW	8	84,153,218 (GRCm39)	missense	possibly damaging	0.94
RF022:Clgn	UTSW	8	84,152,235 (GRCm39)	missense	probably damaging	1.00
Z1177:Clgn	UTSW	8	84,124,310 (GRCm39)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- ACTTTGCACCCAGAGTCCATG -3'
(R):5'- TGTCTAGTCAATTGCCCCTG -3'

Sequencing Primer
(F):5'- ACCCAGAGTCCATGCCTCTC -3'
(R):5'- GTCTAGTCAATTGCCCCTGTTAATC -3'

Posted On

2016-11-21