Incidental Mutation 'IGL02503:Lifr'
ID296150
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lifr
Ensembl Gene ENSMUSG00000054263
Gene Nameleukemia inhibitory factor receptor
SynonymsA230075M04Rik, soluble differentiation-stimulating factor receptor
Accession Numbers

Genbank: NM_013584; MGI: 96788  

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02503
Quality Score
Status
Chromosome15
Chromosomal Location7090614-7197489 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 7185623 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 737 (V737E)
Ref Sequence ENSEMBL: ENSMUSP00000154750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067190] [ENSMUST00000164529] [ENSMUST00000171588] [ENSMUST00000226471] [ENSMUST00000226934] [ENSMUST00000227727]
Predicted Effect probably damaging
Transcript: ENSMUST00000067190
AA Change: V737E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064551
Gene: ENSMUSG00000054263
AA Change: V737E

DomainStartEndE-ValueType
low complexity region 25 37 N/A INTRINSIC
Blast:FN3 45 118 5e-22 BLAST
FN3 328 399 1.86e1 SMART
FN3 425 515 9.77e-5 SMART
FN3 530 611 2.68e0 SMART
FN3 620 705 8.23e1 SMART
FN3 719 815 4.81e-4 SMART
transmembrane domain 830 852 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164529
SMART Domains Protein: ENSMUSP00000131434
Gene: ENSMUSG00000054263

DomainStartEndE-ValueType
low complexity region 25 37 N/A INTRINSIC
Blast:FN3 45 118 4e-22 BLAST
FN3 328 399 1.86e1 SMART
FN3 425 515 9.77e-5 SMART
FN3 530 611 2.68e0 SMART
FN3 620 705 8.23e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000171588
AA Change: V737E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126137
Gene: ENSMUSG00000054263
AA Change: V737E

DomainStartEndE-ValueType
low complexity region 25 37 N/A INTRINSIC
Blast:FN3 45 118 5e-22 BLAST
FN3 328 399 1.86e1 SMART
FN3 425 515 9.77e-5 SMART
FN3 530 611 2.68e0 SMART
FN3 620 705 8.23e1 SMART
FN3 719 815 4.81e-4 SMART
transmembrane domain 830 852 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000226471
AA Change: V737E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000226934
Predicted Effect probably benign
Transcript: ENSMUST00000227727
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the type I cytokine receptor family. This protein combines with a high-affinity converter subunit, gp130, to form a receptor complex that mediates the action of the leukemia inhibitory factor, a polyfunctional cytokine that is involved in cellular differentiation, proliferation and survival in the adult and the embryo. Mutations in this gene cause Schwartz-Jampel syndrome type 2, a disease belonging to the group of the bent-bone dysplasias. A translocation that involves the promoter of this gene, t(5;8)(p13;q12) with the pleiomorphic adenoma gene 1, is associated with salivary gland pleiomorphic adenoma, a common type of benign epithelial tumor of the salivary gland. Multiple splice variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations die as neonates with reduced numbers of facial and spinal motor neurons, neurons of the nucleus ambiguus, and astrocytes. Mutants also show impaired placentation, severe osteopenia, and low hepatic glycogen stores. [provided by MGI curators]
Allele List at MGI

All alleles(22) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(19)

Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 A T 14: 55,771,505 W822R probably damaging Het
Ago4 A T 4: 126,496,805 Y807* probably null Het
Alkbh8 G A 9: 3,347,852 G215D probably damaging Het
Cfap57 C T 4: 118,569,348 probably null Het
Cspg4 G A 9: 56,897,403 V1833M probably damaging Het
Cyp4f17 T C 17: 32,524,966 probably null Het
Dapk1 T A 13: 60,761,807 Y1411* probably null Het
Dmrtc1b T A X: 102,714,760 S199T possibly damaging Het
Elk4 A G 1: 132,014,539 N50D probably damaging Het
Filip1l T A 16: 57,571,575 V604E probably benign Het
Fmo3 A T 1: 162,968,864 H46Q probably benign Het
Fndc1 T A 17: 7,771,516 Y1116F unknown Het
Fpr-rs3 T A 17: 20,624,555 N108I probably damaging Het
Glmn A T 5: 107,562,778 M316K probably damaging Het
Gm5591 C A 7: 38,520,009 R480I probably damaging Het
Gm8122 G T 14: 43,235,188 R39S unknown Het
Gprasp1 T A X: 135,802,530 Y1157* probably null Het
Hist2h2be A G 3: 96,221,223 T20A probably benign Het
Hsf1 T C 15: 76,498,670 L370P probably benign Het
Iqsec1 T A 6: 90,668,788 I809F probably damaging Het
Itsn1 G T 16: 91,889,204 M54I possibly damaging Het
Klra2 T C 6: 131,230,094 N184S probably benign Het
Lrpprc T C 17: 84,726,339 T1037A probably benign Het
Map3k13 A T 16: 21,908,704 I439F possibly damaging Het
Megf8 T C 7: 25,363,563 V2448A possibly damaging Het
Mthfd1l T A 10: 4,083,824 V737D probably damaging Het
Mtm1 A G X: 71,299,670 T386A probably damaging Het
Muc5b T C 7: 141,867,667 V4298A probably benign Het
Olfr1053 C T 2: 86,314,639 G216R possibly damaging Het
Olfr1123 T G 2: 87,418,292 F81L probably benign Het
Olfr1143 A T 2: 87,802,520 I44F probably benign Het
Plch1 A G 3: 63,697,864 S1531P probably damaging Het
Poc1b T A 10: 99,144,348 probably benign Het
Rictor T A 15: 6,786,443 N1065K probably benign Het
Rpsa A G 9: 120,128,593 E35G possibly damaging Het
Scfd1 T A 12: 51,422,921 D416E possibly damaging Het
Sdad1 A T 5: 92,301,802 probably benign Het
Skor1 A G 9: 63,146,115 S191P probably damaging Het
Slc28a2 T C 2: 122,458,212 F600L probably benign Het
Tmem229b-ps A G 10: 53,475,154 noncoding transcript Het
Top2b A G 14: 16,407,163 M678V possibly damaging Het
Ttn T C 2: 76,786,763 N8092S probably damaging Het
Ttn C T 2: 76,741,689 V26287I probably damaging Het
Tulp4 T A 17: 6,213,391 I345N probably damaging Het
U2surp C T 9: 95,502,569 V21I probably benign Het
Ubr5 T C 15: 38,018,320 T859A possibly damaging Het
Ubr5 T C 15: 38,018,314 K861E probably damaging Het
Unc13d A G 11: 116,068,802 V617A possibly damaging Het
Vmn2r10 T C 5: 109,003,475 Y91C probably damaging Het
Vmn2r120 T A 17: 57,509,385 I657F probably benign Het
Wwc2 T C 8: 47,849,383 R931G unknown Het
Other mutations in Lifr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00702:Lifr APN 15 7185739 splice site probably null
IGL01470:Lifr APN 15 7175666 nonsense probably null
IGL01489:Lifr APN 15 7175556 splice site probably benign
IGL01619:Lifr APN 15 7191162 missense probably damaging 1.00
IGL01636:Lifr APN 15 7179018 splice site probably benign
IGL01943:Lifr APN 15 7188149 missense probably damaging 1.00
IGL02253:Lifr APN 15 7190604 missense probably damaging 1.00
IGL02355:Lifr APN 15 7164693 critical splice donor site probably null
IGL02362:Lifr APN 15 7164693 critical splice donor site probably null
IGL02450:Lifr APN 15 7190765 missense probably damaging 1.00
IGL02477:Lifr APN 15 7186923 missense probably damaging 1.00
IGL02571:Lifr APN 15 7190111 unclassified probably benign
IGL03340:Lifr APN 15 7177936 missense probably benign 0.02
N/A - 535:Lifr UTSW 15 7186953 missense possibly damaging 0.80
R0012:Lifr UTSW 15 7175608 missense possibly damaging 0.78
R0015:Lifr UTSW 15 7188186 unclassified probably null
R0102:Lifr UTSW 15 7178892 missense probably damaging 0.98
R0102:Lifr UTSW 15 7178892 missense probably damaging 0.98
R0305:Lifr UTSW 15 7177501 missense probably damaging 0.99
R0416:Lifr UTSW 15 7166914 missense probably damaging 1.00
R0440:Lifr UTSW 15 7157191 nonsense probably null
R0519:Lifr UTSW 15 7177580 missense probably damaging 1.00
R0595:Lifr UTSW 15 7177469 missense probably damaging 1.00
R0601:Lifr UTSW 15 7169272 splice site probably null
R0780:Lifr UTSW 15 7177466 missense probably benign 0.00
R0790:Lifr UTSW 15 7185715 missense probably benign 0.13
R1376:Lifr UTSW 15 7184764 missense probably benign 0.04
R1376:Lifr UTSW 15 7184764 missense probably benign 0.04
R1400:Lifr UTSW 15 7190865 missense probably benign 0.04
R1498:Lifr UTSW 15 7190618 missense probably damaging 0.99
R1785:Lifr UTSW 15 7181856 missense possibly damaging 0.89
R1786:Lifr UTSW 15 7181856 missense possibly damaging 0.89
R1906:Lifr UTSW 15 7188131 missense probably damaging 0.98
R2099:Lifr UTSW 15 7157251 missense probably benign
R2102:Lifr UTSW 15 7186923 missense probably damaging 1.00
R2136:Lifr UTSW 15 7181857 missense possibly damaging 0.89
R2511:Lifr UTSW 15 7166916 missense probably benign
R4375:Lifr UTSW 15 7166898 missense probably benign
R4883:Lifr UTSW 15 7185625 missense possibly damaging 0.94
R5681:Lifr UTSW 15 7191084 missense probably damaging 1.00
R5689:Lifr UTSW 15 7184804 missense probably damaging 1.00
R5693:Lifr UTSW 15 7175560 missense probably damaging 1.00
R5902:Lifr UTSW 15 7190750 missense probably benign
R5918:Lifr UTSW 15 7159416 missense probably benign 0.00
R5924:Lifr UTSW 15 7172972 missense probably benign 0.28
R6037:Lifr UTSW 15 7186943 missense probably damaging 1.00
R6037:Lifr UTSW 15 7186943 missense probably damaging 1.00
R6289:Lifr UTSW 15 7166910 missense probably benign 0.00
R6339:Lifr UTSW 15 7167049 missense probably benign 0.01
R6860:Lifr UTSW 15 7172937 missense probably benign 0.02
R7106:Lifr UTSW 15 7172924 missense probably benign 0.02
R7107:Lifr UTSW 15 7178940 missense possibly damaging 0.88
R7274:Lifr UTSW 15 7167059 critical splice donor site probably null
Posted On2015-04-16