Mutagenetix > Incidental Mutation

Incidental Mutation 'R5097:Clgn'

388091

Institutional Source

Beutler Lab

Gene Symbol

Clgn

Ensembl Gene

ENSMUSG00000002190

Gene Name

calmegin

Synonyms

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

MMRRC Submission

042686-MU

Accession Numbers

Essential gene?

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

Stock #

R5097 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84116496-84155181 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 84137152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 290 (V290F)

Ref Sequence

ENSEMBL: ENSMUSP00000105457 (fasta)

Gene Model

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

AlphaFold

P52194

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002259
AA Change: V290F

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000002259
Gene: ENSMUSG00000002190
AA Change: V290F

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

possibly damaging
Transcript: ENSMUST00000109831
AA Change: V290F

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105457
Gene: ENSMUSG00000002190
AA Change: V290F

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	C	A	5: 89,840,909 (GRCm39)	V805F	probably damaging	Het
Adgrb3	G	A	1: 25,865,165 (GRCm39)	T226M	probably damaging	Het
Ak5	A	G	3: 152,187,270 (GRCm39)	S406P	probably damaging	Het
Akt3	C	G	1: 177,076,254 (GRCm39)	V12L	probably benign	Het
Arhgef40	A	C	14: 52,227,146 (GRCm39)	S397R	probably damaging	Het
Atp5f1c	A	G	2: 10,068,323 (GRCm39)	V144A	probably benign	Het
Ccser1	A	G	6: 61,289,144 (GRCm39)	S436G	probably benign	Het
Dis3l	T	A	9: 64,226,498 (GRCm39)	D261V	probably damaging	Het
Dnah11	T	A	12: 117,981,435 (GRCm39)	Y2577F	probably damaging	Het
Evi5l	A	G	8: 4,243,317 (GRCm39)	E371G	probably damaging	Het
Fat2	A	G	11: 55,201,530 (GRCm39)	S515P	probably damaging	Het
Fsip2	A	G	2: 82,822,329 (GRCm39)	I6021V	probably benign	Het
Ftdc1	A	C	16: 58,434,227 (GRCm39)	N163K	probably benign	Het
Gstm5	A	T	3: 107,803,258 (GRCm39)		probably benign	Het
H2-Oa	G	A	17: 34,312,809 (GRCm39)	D29N	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Ireb2	A	G	9: 54,802,668 (GRCm39)	I434M	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Micall1	A	G	15: 79,014,078 (GRCm39)	T658A	probably benign	Het
Mitf	C	T	6: 97,973,423 (GRCm39)	A252V	possibly damaging	Het
Mpzl1	A	G	1: 165,433,285 (GRCm39)	I122T	probably damaging	Het
Mtus2	G	A	5: 148,232,392 (GRCm39)	V146I	probably damaging	Het
Myh11	C	T	16: 14,023,770 (GRCm39)		probably null	Het
Myrfl	A	G	10: 116,653,609 (GRCm39)	I486T	probably damaging	Het
N4bp2	T	C	5: 65,974,561 (GRCm39)	V1477A	probably damaging	Het
Ndc1	T	A	4: 107,231,358 (GRCm39)	S100T	probably benign	Het
Nek10	T	A	14: 14,857,851 (GRCm38)	N433K	probably benign	Het
Noc4l	C	T	5: 110,799,212 (GRCm39)	S190N	probably benign	Het
Nprl2	A	G	9: 107,420,731 (GRCm39)	E122G	probably damaging	Het
Or13a19	A	G	7: 139,903,008 (GRCm39)	Y132C	probably damaging	Het
Or1e16	G	C	11: 73,286,119 (GRCm39)	S243C	probably damaging	Het
Or6n2	C	T	1: 173,897,095 (GRCm39)	T77I	probably benign	Het
Osbpl1a	T	C	18: 12,896,594 (GRCm39)	I324V	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Peg3	C	T	7: 6,713,026 (GRCm39)	R732H	probably damaging	Het
Rfc4	A	G	16: 22,933,046 (GRCm39)	I297T	possibly damaging	Het
Rpl3l	T	A	17: 24,952,435 (GRCm39)	D218E	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sesn2	C	T	4: 132,224,209 (GRCm39)	V400I	probably benign	Het
Syt11	C	T	3: 88,655,231 (GRCm39)	V51I	probably benign	Het
Tas2r115	A	C	6: 132,714,216 (GRCm39)	L245R	probably damaging	Het
Tmem115	G	A	9: 107,412,059 (GRCm39)	V128I	probably benign	Het
Trim47	A	G	11: 115,997,260 (GRCm39)	V499A	probably benign	Het
Trpm7	A	T	2: 126,638,256 (GRCm39)		probably null	Het
Zfp143	A	G	7: 109,687,998 (GRCm39)	D479G	probably damaging	Het
Zfp292	T	C	4: 34,839,878 (GRCm39)	T91A	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
R5677:Clgn	UTSW	8	84,136,167 (GRCm39)	missense	probably damaging	1.00
R5752:Clgn	UTSW	8	84,123,670 (GRCm39)	missense	probably damaging	0.99
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'- CTTTAGTGATGAATCCGGATGATAC -3'
(R):5'- CTCATGGATCTTCCCACAGAAC -3'

Sequencing Primer
(F):5'- TGAATCCGGATGATACATTTGAAG -3'
(R):5'- TGGATCTTCCCACAGAACTGATATC -3'

Posted On

2016-06-06