Mutagenetix > Incidental Mutation

Incidental Mutation 'R3821:Clgn'

274922

Institutional Source

Beutler Lab

Gene Symbol

Clgn

Ensembl Gene

ENSMUSG00000002190

Gene Name

calmegin

Synonyms

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

MMRRC Submission

040883-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.399) question?

Stock #

R3821 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84116496-84155181 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84147106 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 353 (I353V)

Ref Sequence

ENSEMBL: ENSMUSP00000105457 (fasta)

Gene Model

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

AlphaFold

P52194

Predicted Effect

probably null
Transcript: ENSMUST00000002259
AA Change: I353V

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000002259
Gene: ENSMUSG00000002190
AA Change: I353V

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 null
Transcript: ENSMUST00000109831
AA Change: I353V

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000105457
Gene: ENSMUSG00000002190
AA Change: I353V

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

0.0875

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (67/67)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	T	A	11: 101,301,971 (GRCm39)	I332F	probably damaging	Het
Abcd2	C	T	15: 91,058,908 (GRCm39)	G512D	probably damaging	Het
Acp3	G	T	9: 104,201,916 (GRCm39)	Q76K	probably damaging	Het
Adamtsl3	G	T	7: 82,255,687 (GRCm39)		probably benign	Het
Alox8	T	A	11: 69,077,308 (GRCm39)	I481F	probably damaging	Het
Anp32e	A	T	3: 95,842,181 (GRCm39)	I100L	probably benign	Het
Arpin	G	A	7: 79,579,408 (GRCm39)	R72C	probably damaging	Het
C6	A	G	15: 4,819,066 (GRCm39)	E466G	probably benign	Het
Ccdc13	C	A	9: 121,660,085 (GRCm39)	L76F	probably damaging	Het
Cd44	T	C	2: 102,731,738 (GRCm39)		probably null	Het
Cnot6	A	T	11: 49,579,999 (GRCm39)	S98T	probably benign	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Cramp1	G	A	17: 25,193,756 (GRCm39)	T908I	probably damaging	Het
Dnah9	C	A	11: 65,741,829 (GRCm39)		probably null	Het
Ehd3	A	T	17: 74,134,390 (GRCm39)	I250F	probably benign	Het
Eml2	T	C	7: 18,936,911 (GRCm39)	V555A	possibly damaging	Het
Erbb4	A	G	1: 68,345,072 (GRCm39)	S550P	probably damaging	Het
Fchsd1	A	G	18: 38,102,510 (GRCm39)		probably benign	Het
Flad1	T	A	3: 89,318,494 (GRCm39)	I20F	probably damaging	Het
Frem2	A	T	3: 53,559,836 (GRCm39)	L1557Q	probably damaging	Het
Gbf1	T	C	19: 46,253,246 (GRCm39)	I506T	probably damaging	Het
Gm20730	C	T	6: 43,058,656 (GRCm39)	S52N	probably benign	Het
Hoxc9	A	G	15: 102,890,596 (GRCm39)	K171R	probably benign	Het
Hscb	A	T	5: 110,984,194 (GRCm39)	D52E	probably damaging	Het
Htr1b	A	T	9: 81,514,487 (GRCm39)	I40N	probably benign	Het
Ido2	T	C	8: 25,023,771 (GRCm39)	I356V	probably benign	Het
Insyn2b	T	C	11: 34,353,007 (GRCm39)	S350P	probably benign	Het
Irs1	T	C	1: 82,267,770 (GRCm39)	T149A	probably benign	Het
Itgam	A	G	7: 127,711,458 (GRCm39)		probably null	Het
Itpr2	A	T	6: 146,319,224 (GRCm39)	H244Q	probably damaging	Het
Kcnma1	A	G	14: 23,417,679 (GRCm39)	I846T	probably damaging	Het
Kdm3a	A	T	6: 71,588,661 (GRCm39)	D449E	probably benign	Het
Lama1	C	A	17: 68,086,041 (GRCm39)		probably null	Het
Lhfpl4	A	G	6: 113,171,069 (GRCm39)	V39A	probably benign	Het
Marf1	A	T	16: 13,960,418 (GRCm39)	L542Q	probably damaging	Het
Mns1	A	G	9: 72,346,730 (GRCm39)	E71G	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mrpl19	C	A	6: 81,938,987 (GRCm39)	E272*	probably null	Het
Ncoa6	T	A	2: 155,248,858 (GRCm39)	N1482I	probably damaging	Het
Neto2	C	A	8: 86,389,924 (GRCm39)	E180*	probably null	Het
Or2a51	A	G	6: 43,178,604 (GRCm39)	T9A	probably benign	Het
Pcdhga10	A	G	18: 37,880,995 (GRCm39)	N252S	probably damaging	Het
Pcdhgb7	C	A	18: 37,885,286 (GRCm39)	T152K	possibly damaging	Het
Ptprb	G	T	10: 116,185,979 (GRCm39)	R1678L	probably benign	Het
Ptprg	A	T	14: 12,226,375 (GRCm38)	I1323L	probably benign	Het
Rab40b	T	A	11: 121,248,874 (GRCm39)	N127I	probably damaging	Het
Scn10a	A	G	9: 119,467,699 (GRCm39)	C814R	probably benign	Het
Sdhb	C	T	4: 140,706,399 (GRCm39)	R279*	probably null	Het
Shroom4	C	T	X: 6,536,276 (GRCm39)	Q1165*	probably null	Het
Slc17a4	C	T	13: 24,085,752 (GRCm39)	R387H	probably benign	Het
Slc20a2	A	G	8: 23,028,918 (GRCm39)	I130V	probably benign	Het
Slitrk3	T	C	3: 72,956,549 (GRCm39)	Y741C	possibly damaging	Het
Tas1r1	G	T	4: 152,119,138 (GRCm39)	L144I	probably benign	Het
Tenm2	A	T	11: 35,915,147 (GRCm39)	I2129N	probably damaging	Het
Tmbim1	A	G	1: 74,333,089 (GRCm39)	V92A	probably damaging	Het
Tmem131	T	A	1: 36,847,477 (GRCm39)	H1207L	probably damaging	Het
Tmem209	G	T	6: 30,505,959 (GRCm39)	P116T	probably damaging	Het
Tmem8b	C	A	4: 43,689,745 (GRCm39)	H800N	probably damaging	Het
Tnfsf8	A	G	4: 63,779,127 (GRCm39)	V57A	probably benign	Het
Topaz1	A	G	9: 122,626,848 (GRCm39)	D1492G	possibly damaging	Het
Trank1	G	A	9: 111,207,887 (GRCm39)	G1711R	probably damaging	Het
Trpc6	A	T	9: 8,610,279 (GRCm39)	D249V	probably damaging	Het
Ubr3	G	A	2: 69,824,157 (GRCm39)		probably null	Het
Ufc1	A	G	1: 171,117,172 (GRCm39)		probably benign	Het
Unc5cl	T	C	17: 48,767,001 (GRCm39)	L125P	possibly damaging	Het
Usb1	G	A	8: 96,060,061 (GRCm39)	S57N	probably benign	Het
Wdfy1	A	G	1: 79,684,017 (GRCm39)	S373P	probably benign	Het
Zfp618	G	A	4: 63,051,801 (GRCm39)	A861T	probably benign	Het
Zfp831	T	C	2: 174,485,816 (GRCm39)	S164P	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
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

Predicted Primers

PCR Primer
(F):5'- GGCTGGCTTGATGATGAACC -3'
(R):5'- CAAATGAGACTTCTAAGAGCTGCAG -3'

Sequencing Primer
(F):5'- GTTTATCCCCAATCCTAAAGCTGAG -3'
(R):5'- CTTCTAAGAGCTGCAGACACTGG -3'

Posted On

2015-04-02