Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02158:Clgn'

282337

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clgn

Ensembl Gene

ENSMUSG00000002190

Gene Name

calmegin

Synonyms

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

Accession Numbers

Essential gene?

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

Stock #

IGL02158

Quality Score

Status

Chromosome

Chromosomal Location

84116496-84155181 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 84149765 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 422 (I422S)

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: I422S

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

SMART Domains

Protein: ENSMUSP00000002259
Gene: ENSMUSG00000002190
AA Change: I422S

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: I422S

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

SMART Domains

Protein: ENSMUSP00000105457
Gene: ENSMUSG00000002190
AA Change: I422S

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

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,163,902 (GRCm39)		probably null	Het
Abca2	A	G	2: 25,337,891 (GRCm39)		probably benign	Het
Abcb11	A	T	2: 69,130,269 (GRCm39)	S262R	probably damaging	Het
Abhd12	T	A	2: 150,690,341 (GRCm39)	Q118L	probably benign	Het
Adam1a	A	T	5: 121,657,034 (GRCm39)	L753*	probably null	Het
Ahctf1	A	T	1: 179,607,217 (GRCm39)	I699N	possibly damaging	Het
Arl11	C	A	14: 61,548,487 (GRCm39)	A99E	probably damaging	Het
Atp5po	G	A	16: 91,727,289 (GRCm39)	R16W	probably damaging	Het
AW551984	T	C	9: 39,510,621 (GRCm39)	H238R	probably null	Het
Bpifb9a	C	A	2: 154,108,733 (GRCm39)		probably benign	Het
Carhsp1	A	G	16: 8,481,577 (GRCm39)		probably benign	Het
Ccdc33	T	C	9: 57,937,702 (GRCm39)	D623G	probably damaging	Het
Chd6	C	A	2: 160,868,212 (GRCm39)	R378L	possibly damaging	Het
Chn2	T	C	6: 54,277,230 (GRCm39)		probably benign	Het
Col15a1	T	A	4: 47,300,606 (GRCm39)		probably null	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp2c39	T	C	19: 39,556,574 (GRCm39)	I470T	probably benign	Het
Dcaf11	T	A	14: 55,801,980 (GRCm39)		probably null	Het
Dnah1	G	T	14: 31,022,924 (GRCm39)	T1071K	probably benign	Het
Dnah2	T	A	11: 69,348,949 (GRCm39)	M2513L	probably benign	Het
Dqx1	A	G	6: 83,035,891 (GRCm39)		probably benign	Het
Gm1587	T	C	14: 78,036,282 (GRCm39)	E8G	unknown	Het
Hydin	T	C	8: 111,336,598 (GRCm39)	I5125T	possibly damaging	Het
Ighv5-9	G	T	12: 113,625,563 (GRCm39)	P60Q	probably damaging	Het
Itga7	T	G	10: 128,789,651 (GRCm39)	L993R	possibly damaging	Het
Itpr3	A	G	17: 27,317,416 (GRCm39)	N857S	probably damaging	Het
Krt23	C	T	11: 99,383,490 (GRCm39)		probably benign	Het
Lrp1	T	C	10: 127,390,140 (GRCm39)	N3093S	probably benign	Het
Mms22l	T	C	4: 24,505,349 (GRCm39)	F203S	probably damaging	Het
Morn5	A	G	2: 35,947,088 (GRCm39)	D122G	probably damaging	Het
Mpp2	G	T	11: 101,954,088 (GRCm39)	L220I	probably benign	Het
Mrgpra6	A	T	7: 46,835,700 (GRCm39)	Y240*	probably null	Het
Mtmr12	T	C	15: 12,238,016 (GRCm39)	I165T	probably damaging	Het
Mylk2	C	A	2: 152,761,077 (GRCm39)	N428K	probably damaging	Het
Nfil3	A	G	13: 53,122,188 (GRCm39)	Y239H	probably damaging	Het
Notch1	A	G	2: 26,350,351 (GRCm39)	L2263P	probably damaging	Het
Or2g7	T	A	17: 38,378,158 (GRCm39)	I32N	probably damaging	Het
Or8b101	A	G	9: 38,020,425 (GRCm39)	M148V	probably benign	Het
P3h3	A	T	6: 124,830,055 (GRCm39)	Y387N	probably damaging	Het
Pdcd6ip	A	T	9: 113,509,121 (GRCm39)	Y324*	probably null	Het
Plcb2	C	A	2: 118,541,844 (GRCm39)	R922L	probably benign	Het
Pml	T	C	9: 58,154,286 (GRCm39)	T196A	probably benign	Het
Ppp2r1b	C	A	9: 50,772,909 (GRCm39)	Q65K	probably benign	Het
Ric8a	A	G	7: 140,442,270 (GRCm39)	T507A	probably benign	Het
Sec16a	A	G	2: 26,306,644 (GRCm39)		probably null	Het
Slc46a3	G	T	5: 147,823,044 (GRCm39)	T266N	probably damaging	Het
Smg1	A	G	7: 117,812,169 (GRCm39)	S41P	possibly damaging	Het
Snrnp200	T	A	2: 127,079,403 (GRCm39)	N1837K	probably benign	Het
Sptan1	A	G	2: 29,920,336 (GRCm39)	T2318A	probably damaging	Het
St7l	C	T	3: 104,782,148 (GRCm39)	T175I	possibly damaging	Het
Tmc7	G	A	7: 118,137,434 (GRCm39)	R703C	probably damaging	Het
Urah	A	G	7: 140,416,799 (GRCm39)		probably benign	Het
Vmn1r42	A	T	6: 89,822,296 (GRCm39)	I91N	probably damaging	Het
Yy1	T	A	12: 108,780,525 (GRCm39)		probably benign	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
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
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

Posted On

2015-04-16