Incidental Mutation 'R2182:Clgn'
ID 237241
Institutional Source Beutler Lab
Gene Symbol Clgn
Ensembl Gene ENSMUSG00000002190
Gene Name calmegin
Synonyms calnexin-t, Cln, 4930459O04Rik, A2/6
MMRRC Submission 040184-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.369) question?
Stock # R2182 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 84116496-84155181 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 84137039 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 252 (T252I)
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: T252I

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000002259
Gene: ENSMUSG00000002190
AA Change: T252I

DomainStartEndE-ValueType
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: T252I

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105457
Gene: ENSMUSG00000002190
AA Change: T252I

DomainStartEndE-ValueType
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: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik A G 9: 53,334,243 (GRCm39) H17R probably damaging Het
Abca15 G A 7: 119,939,450 (GRCm39) W281* probably null Het
Aloxe3 G A 11: 69,020,426 (GRCm39) V157M possibly damaging Het
Arhgap26 G T 18: 39,490,862 (GRCm39) probably benign Het
Atp7b T C 8: 22,504,563 (GRCm39) N698S probably damaging Het
Clec4a4 A G 6: 122,990,716 (GRCm39) probably null Het
Cyp2a12 A T 7: 26,730,571 (GRCm39) N179Y probably damaging Het
D630045J12Rik C T 6: 38,151,082 (GRCm39) probably null Het
Dennd5a G T 7: 109,533,201 (GRCm39) R190S probably benign Het
Dtx4 C A 19: 12,460,471 (GRCm39) G384V probably null Het
Dxo T C 17: 35,057,868 (GRCm39) V191A probably benign Het
Eprs1 G A 1: 185,111,939 (GRCm39) probably null Het
Fntb A G 12: 76,909,309 (GRCm39) N99S probably benign Het
Gm5773 T A 3: 93,680,820 (GRCm39) I164K probably benign Het
Golm2 A G 2: 121,697,909 (GRCm39) D75G probably damaging Het
Hyal5 T C 6: 24,877,879 (GRCm39) I325T probably damaging Het
Igsf8 G A 1: 172,118,295 (GRCm39) probably null Het
Lamc2 A G 1: 153,002,612 (GRCm39) V17A possibly damaging Het
Lpxn T C 19: 12,810,122 (GRCm39) probably null Het
Macf1 A G 4: 123,386,464 (GRCm39) V1296A probably damaging Het
Mpdz A T 4: 81,266,959 (GRCm39) L318Q probably damaging Het
Mpl T A 4: 118,314,610 (GRCm39) Q13L probably benign Het
Mpnd A G 17: 56,322,964 (GRCm39) S399G probably benign Het
Mrps5 T C 2: 127,444,407 (GRCm39) L347P probably damaging Het
Naip1 T A 13: 100,550,188 (GRCm39) Q1217H probably benign Het
Nav2 G A 7: 49,247,002 (GRCm39) V2176I probably benign Het
Obi1 A G 14: 104,743,612 (GRCm39) S156P possibly damaging Het
Or13p3 T C 4: 118,567,542 (GRCm39) *313R probably null Het
Or7g33 T C 9: 19,448,638 (GRCm39) N196S probably benign Het
Or8b43 A G 9: 38,360,420 (GRCm39) N84S probably benign Het
Or8g36 A T 9: 39,422,722 (GRCm39) M98K probably damaging Het
Pbx2 C A 17: 34,814,640 (GRCm39) Y324* probably null Het
Pcsk7 T A 9: 45,839,917 (GRCm39) C702S probably benign Het
Pramel11 T A 4: 143,623,760 (GRCm39) H138L possibly damaging Het
Rictor T C 15: 6,801,685 (GRCm39) S458P probably damaging Het
Scaf4 T C 16: 90,027,028 (GRCm39) M905V probably benign Het
Scarf2 T C 16: 17,620,886 (GRCm39) C185R probably damaging Het
Scd1 T G 19: 44,391,732 (GRCm39) I101L probably benign Het
Slc6a2 A G 8: 93,687,876 (GRCm39) M1V probably null Het
Sost T C 11: 101,854,676 (GRCm39) Y211C probably damaging Het
Sphkap A G 1: 83,254,405 (GRCm39) S828P probably damaging Het
Tnn T C 1: 159,968,170 (GRCm39) probably null Het
Tnrc18 T C 5: 142,745,816 (GRCm39) K1319R unknown Het
Vmn2r60 A G 7: 41,844,931 (GRCm39) T765A probably benign Het
Vmn2r91 C A 17: 18,325,691 (GRCm39) T103K possibly damaging Het
Zbtb44 T C 9: 30,977,972 (GRCm39) C429R possibly damaging Het
Zc3h4 G A 7: 16,156,441 (GRCm39) G327D unknown Het
Zfp292 A G 4: 34,807,417 (GRCm39) C1876R probably damaging Het
Zfp839 C T 12: 110,834,772 (GRCm39) L676F probably damaging Het
Zg16 A G 7: 126,649,544 (GRCm39) L139P probably damaging Het
Zscan12 A G 13: 21,552,961 (GRCm39) I262V probably benign Het
Other mutations in Clgn
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- GCTAGCTGCTGGGTAATTTTAC -3'
(R):5'- GCTGCAATAGTCACTGAGCCTC -3'

Sequencing Primer
(F):5'- CCTGTGGAGATAATGGAATTTTTCAC -3'
(R):5'- CAATAGTCACTGAGCCTCTGTGG -3'
Posted On 2014-10-02