Incidental Mutation 'R4394:Lman2l'
ID 326507
Institutional Source Beutler Lab
Gene Symbol Lman2l
Ensembl Gene ENSMUSG00000001143
Gene Name lectin, mannose-binding 2-like
Synonyms A630028F14Rik, VIP36-like
MMRRC Submission 041683-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.810) question?
Stock # R4394 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 36458952-36484352 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 36478804 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 103 (C103G)
Ref Sequence ENSEMBL: ENSMUSP00000117200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001171] [ENSMUST00000115011] [ENSMUST00000123583] [ENSMUST00000125304]
AlphaFold P59481
Predicted Effect possibly damaging
Transcript: ENSMUST00000001171
AA Change: C103G

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000137028
Gene: ENSMUSG00000001143
AA Change: C103G

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:Lectin_leg-like 48 146 1.5e-34 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115011
AA Change: C103G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110663
Gene: ENSMUSG00000001143
AA Change: C103G

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:Lectin_leg-like 48 286 2e-84 PFAM
transmembrane domain 324 346 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123583
SMART Domains Protein: ENSMUSP00000137344
Gene: ENSMUSG00000001143

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000125304
AA Change: C103G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117200
Gene: ENSMUSG00000001143
AA Change: C103G

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:Lectin_leg-like 48 275 3.2e-88 PFAM
transmembrane domain 313 335 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134594
Predicted Effect probably benign
Transcript: ENSMUST00000192969
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193502
Meta Mutation Damage Score 0.7502 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 96.8%
  • 20x: 93.4%
Validation Efficiency 99% (69/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the L-type lectin group of type 1 membrane proteins, which function in the mammalian early secretory pathway. These proteins contain luminal carbohydrate recognition domains, which display homology to leguminous lectins. Unlike other proteins of the group, which cycle in the early secretory pathway and are predominantly associated with post endoplasmic reticulum membranes, the protein encoded by this gene is a non-cycling resident protein of the ER, where it functions as a cargo receptor for glycoproteins. It is proposed to regulate exchange of folded proteins for transport to the Golgi and exchange of misfolded glycoproteins for transport to the ubiquitin-proteasome pathway. [provided by RefSeq, Apr 2016]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 A G 6: 88,813,566 (GRCm39) F391L probably damaging Het
AC140205.10 C A 8: 21,323,181 (GRCm39) T192K probably benign Het
Arid4b T A 13: 14,329,557 (GRCm39) probably null Het
Bahd1 G A 2: 118,753,004 (GRCm39) R757H probably damaging Het
Brip1 A T 11: 85,965,124 (GRCm39) N855K possibly damaging Het
Ces2f A G 8: 105,677,586 (GRCm39) N197S probably damaging Het
Chd4 A G 6: 125,098,581 (GRCm39) T1520A probably damaging Het
Cltc A C 11: 86,624,456 (GRCm39) N159K probably damaging Het
Cntn1 C T 15: 92,189,645 (GRCm39) T656I probably damaging Het
Crybg3 A G 16: 59,380,458 (GRCm39) probably benign Het
Dzip1l T A 9: 99,521,907 (GRCm39) L181H probably damaging Het
Fam3b C A 16: 97,282,986 (GRCm39) probably null Het
Fat1 T A 8: 45,405,383 (GRCm39) N711K probably damaging Het
Fat3 A G 9: 15,834,088 (GRCm39) I4168T probably benign Het
Fbxw20 T C 9: 109,061,398 (GRCm39) D117G probably benign Het
Gm8122 A G 14: 43,091,525 (GRCm39) L81P unknown Het
Hal T C 10: 93,332,421 (GRCm39) probably benign Het
Hgf T A 5: 16,823,949 (GRCm39) Y715* probably null Het
Hid1 T A 11: 115,258,468 (GRCm39) probably benign Het
Hyou1 T A 9: 44,293,169 (GRCm39) V125E probably damaging Het
Jrkl G A 9: 13,245,146 (GRCm39) Q172* probably null Het
Lamc3 A G 2: 31,821,964 (GRCm39) E1304G probably benign Het
Lrfn5 T C 12: 61,890,276 (GRCm39) S522P probably damaging Het
Mark3 A T 12: 111,570,957 (GRCm39) I86L possibly damaging Het
Mfsd13a C T 19: 46,360,431 (GRCm39) R328C probably damaging Het
Mgst2 G A 3: 51,571,949 (GRCm39) V26I probably damaging Het
Neb A T 2: 52,077,525 (GRCm39) Y158* probably null Het
Nipbl T C 15: 8,391,345 (GRCm39) I210V probably benign Het
Or7g18 A T 9: 18,786,907 (GRCm39) I95L probably damaging Het
Or8j3b C T 2: 86,205,523 (GRCm39) A78T possibly damaging Het
Pcdhb8 C T 18: 37,489,935 (GRCm39) P538S probably damaging Het
Postn A G 3: 54,278,376 (GRCm39) D295G probably damaging Het
Prss38 T C 11: 59,263,854 (GRCm39) Y286C probably damaging Het
Psen2 A T 1: 180,068,347 (GRCm39) V102E probably damaging Het
Ptpn9 A T 9: 56,943,847 (GRCm39) K126N possibly damaging Het
Ptprd A G 4: 76,046,922 (GRCm39) I435T probably damaging Het
Rab39 T C 9: 53,597,950 (GRCm39) K105R probably benign Het
Robo2 C A 16: 73,745,267 (GRCm39) R840L probably benign Het
Rps6ka5 T A 12: 100,547,578 (GRCm39) I311F probably damaging Het
Ryr1 G T 7: 28,793,667 (GRCm39) T1267K possibly damaging Het
Sis G A 3: 72,863,482 (GRCm39) T252I probably damaging Het
Slc41a3 A T 6: 90,612,312 (GRCm39) S201C probably damaging Het
Slitrk1 A C 14: 109,148,735 (GRCm39) S659A probably benign Het
Snx25 A T 8: 46,488,715 (GRCm39) M880K probably damaging Het
Tbxas1 C T 6: 39,004,713 (GRCm39) T320I probably benign Het
Tex44 T C 1: 86,355,489 (GRCm39) V466A probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tnxb C T 17: 34,897,636 (GRCm39) Q804* probably null Het
Tpst1 T A 5: 130,131,343 (GRCm39) M271K probably benign Het
Trank1 C T 9: 111,194,265 (GRCm39) T763I possibly damaging Het
Trip12 A T 1: 84,703,462 (GRCm39) H729Q probably damaging Het
Tshz3 A T 7: 36,469,030 (GRCm39) T340S probably damaging Het
Ttc5 T C 14: 51,018,962 (GRCm39) K52E probably benign Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Vmn2r79 A G 7: 86,651,099 (GRCm39) H166R possibly damaging Het
Wsb2 T G 5: 117,501,643 (GRCm39) probably benign Het
Other mutations in Lman2l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00672:Lman2l APN 1 36,477,915 (GRCm39) critical splice acceptor site probably null
IGL02301:Lman2l APN 1 36,482,624 (GRCm39) missense probably damaging 1.00
IGL03288:Lman2l APN 1 36,482,628 (GRCm39) missense probably damaging 0.98
IGL03295:Lman2l APN 1 36,477,892 (GRCm39) missense probably damaging 1.00
R0128:Lman2l UTSW 1 36,463,945 (GRCm39) nonsense probably null
R0130:Lman2l UTSW 1 36,463,945 (GRCm39) nonsense probably null
R0981:Lman2l UTSW 1 36,484,314 (GRCm39) start codon destroyed unknown
R2010:Lman2l UTSW 1 36,484,262 (GRCm39) nonsense probably null
R2039:Lman2l UTSW 1 36,467,535 (GRCm39) missense probably damaging 1.00
R2343:Lman2l UTSW 1 36,467,190 (GRCm39) missense possibly damaging 0.90
R4195:Lman2l UTSW 1 36,464,022 (GRCm39) missense probably damaging 0.98
R4526:Lman2l UTSW 1 36,477,844 (GRCm39) missense probably damaging 0.98
R5747:Lman2l UTSW 1 36,464,038 (GRCm39) missense possibly damaging 0.90
R6156:Lman2l UTSW 1 36,477,907 (GRCm39) missense probably damaging 1.00
R6264:Lman2l UTSW 1 36,477,850 (GRCm39) missense probably damaging 1.00
R7013:Lman2l UTSW 1 36,482,599 (GRCm39) unclassified probably benign
R9189:Lman2l UTSW 1 36,478,771 (GRCm39) missense probably damaging 1.00
R9356:Lman2l UTSW 1 36,467,415 (GRCm39) missense probably damaging 1.00
R9577:Lman2l UTSW 1 36,467,490 (GRCm39) missense probably damaging 1.00
Z1176:Lman2l UTSW 1 36,467,457 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGGAATAAACAGGCCTGCTAC -3'
(R):5'- ATAGCCACGTGGTTTGTCC -3'

Sequencing Primer
(F):5'- AGGCCTGCTACACCCATG -3'
(R):5'- AGGGCATTGGATCCCATTAC -3'
Posted On 2015-07-06