Incidental Mutation 'R6860:Lifr'
ID 535471
Institutional Source Beutler Lab
Gene Symbol Lifr
Ensembl Gene ENSMUSG00000054263
Gene Name LIF receptor alpha
Synonyms soluble differentiation-stimulating factor receptor, A230075M04Rik
MMRRC Submission 045025-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6860 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 7120095-7226970 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 7202418 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 353 (I353K)
Ref Sequence ENSEMBL: ENSMUSP00000154181 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067190] [ENSMUST00000164529] [ENSMUST00000171588] [ENSMUST00000226471] [ENSMUST00000226934] [ENSMUST00000227727]
AlphaFold P42703
Predicted Effect probably benign
Transcript: ENSMUST00000067190
AA Change: I353K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000064551
Gene: ENSMUSG00000054263
AA Change: I353K

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
AA Change: I353K

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000131434
Gene: ENSMUSG00000054263
AA Change: I353K

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 benign
Transcript: ENSMUST00000171588
AA Change: I353K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000126137
Gene: ENSMUSG00000054263
AA Change: I353K

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: ENSMUST00000226471
AA Change: I353K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000226934
AA Change: I353K

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000227727
AA Change: I353K

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (86/86)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T C 11: 72,080,412 (GRCm39) E418G probably damaging Het
9930012K11Rik C A 14: 70,395,071 (GRCm39) V28L possibly damaging Het
Abtb2 C T 2: 103,539,770 (GRCm39) R712* probably null Het
Acvr1c C T 2: 58,177,717 (GRCm39) G171S probably damaging Het
Ahctf1 G T 1: 179,580,853 (GRCm39) A1783E probably benign Het
Anapc4 A T 5: 53,006,170 (GRCm39) Q149L probably damaging Het
Ankrd27 T C 7: 35,327,952 (GRCm39) V824A possibly damaging Het
Ankrd31 G C 13: 96,968,094 (GRCm39) C577S probably benign Het
Apol7c T C 15: 77,410,274 (GRCm39) N224S probably benign Het
Arl14 A T 3: 69,130,029 (GRCm39) T59S probably benign Het
Astn1 T A 1: 158,440,042 (GRCm39) I870K probably damaging Het
B4galt1 A T 4: 40,807,796 (GRCm39) V335E probably benign Het
C2cd3 C T 7: 100,039,448 (GRCm39) P216S probably benign Het
Cchcr1 C A 17: 35,840,015 (GRCm39) N711K possibly damaging Het
Chd2 A G 7: 73,147,558 (GRCm39) F467L possibly damaging Het
Cntn6 A T 6: 104,838,907 (GRCm39) E987V possibly damaging Het
Col11a2 T A 17: 34,272,572 (GRCm39) L286H probably damaging Het
Cwc22 C T 2: 77,759,792 (GRCm39) R85Q possibly damaging Het
Cyp7a1 A C 4: 6,272,587 (GRCm39) F209V probably damaging Het
Dmtn T C 14: 70,852,322 (GRCm39) T189A possibly damaging Het
Dnhd1 C G 7: 105,327,473 (GRCm39) N777K probably benign Het
Dusp16 A T 6: 134,702,842 (GRCm39) C216* probably null Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fbn1 T C 2: 125,170,078 (GRCm39) N1993S probably damaging Het
Fbxw22 A G 9: 109,213,030 (GRCm39) S306P probably benign Het
Ferd3l T C 12: 33,978,651 (GRCm39) S55P probably benign Het
Fpr-rs3 A G 17: 20,844,560 (GRCm39) S194P possibly damaging Het
Gm19965 G A 1: 116,748,609 (GRCm39) D97N probably benign Het
Gtpbp2 A G 17: 46,478,914 (GRCm39) probably benign Het
H3c7 G T 13: 23,728,760 (GRCm39) V36L probably benign Het
Hcn3 A C 3: 89,067,152 (GRCm39) I72S possibly damaging Het
Hk3 T A 13: 55,162,278 (GRCm39) N109Y probably damaging Het
Iqub T C 6: 24,505,737 (GRCm39) E57G possibly damaging Het
Kcnk3 T A 5: 30,779,397 (GRCm39) M149K possibly damaging Het
Kcp C T 6: 29,505,719 (GRCm39) G51D probably benign Het
Kif26a C A 12: 112,113,263 (GRCm39) A53D probably damaging Het
Llph A T 10: 120,067,189 (GRCm39) N102I probably damaging Het
Lmo3 C A 6: 138,393,566 (GRCm39) R18L possibly damaging Het
Lrrc46 T C 11: 96,926,371 (GRCm39) E175G probably benign Het
Ltk A T 2: 119,585,075 (GRCm39) C128* probably null Het
Map1b T C 13: 99,571,275 (GRCm39) E482G probably damaging Het
Mapk8ip2 T C 15: 89,344,655 (GRCm39) V740A probably damaging Het
Miga2 T C 2: 30,261,175 (GRCm39) W157R probably benign Het
Mlip A G 9: 77,009,675 (GRCm39) *837Q probably null Het
Mroh2a G T 1: 88,182,657 (GRCm39) R1195L possibly damaging Het
Myl1 T C 1: 66,984,217 (GRCm39) probably benign Het
Or1l4 T C 2: 37,092,189 (GRCm39) L312P possibly damaging Het
Or2a5 T C 6: 42,873,750 (GRCm39) Y122H probably benign Het
Or51ab3 A G 7: 103,201,075 (GRCm39) I28V probably benign Het
P3h3 A T 6: 124,834,331 (GRCm39) V107D probably benign Het
Papolb A T 5: 142,514,651 (GRCm39) S331T possibly damaging Het
Pars2 T G 4: 106,511,700 (GRCm39) V494G probably benign Het
Pcdhb3 C A 18: 37,434,763 (GRCm39) T243K probably benign Het
Pde9a T A 17: 31,689,698 (GRCm39) M415K probably damaging Het
Ppp1r9b G A 11: 94,882,974 (GRCm39) A201T probably benign Het
Prl A G 13: 27,248,942 (GRCm39) N197S possibly damaging Het
Prl2c1 T A 13: 28,035,724 (GRCm39) M32K probably benign Het
Prrt4 T C 6: 29,170,737 (GRCm39) S572G possibly damaging Het
Psd T A 19: 46,310,858 (GRCm39) D397V probably damaging Het
Psme2b A T 11: 48,836,307 (GRCm39) Y213* probably null Het
Ptcd3 T A 6: 71,874,094 (GRCm39) probably null Het
Ptprk T G 10: 28,210,480 (GRCm39) F167L probably damaging Het
Rfx7 T C 9: 72,524,226 (GRCm39) V472A probably damaging Het
Sanbr A G 11: 23,575,100 (GRCm39) L58P probably damaging Het
Scnn1g T C 7: 121,339,576 (GRCm39) L125S probably damaging Het
Sec16a T C 2: 26,320,124 (GRCm39) Y1438C probably damaging Het
Serinc3 C T 2: 163,476,366 (GRCm39) S155N probably benign Het
Slc3a2 A T 19: 8,690,996 (GRCm39) V78E probably damaging Het
Slc44a4 T A 17: 35,140,044 (GRCm39) L23Q probably damaging Het
Slco5a1 C T 1: 12,951,420 (GRCm39) probably benign Het
Slit1 A G 19: 41,605,154 (GRCm39) M899T probably benign Het
Sorl1 A G 9: 41,933,688 (GRCm39) I1094T probably benign Het
Spag9 T A 11: 93,972,196 (GRCm39) L258Q probably benign Het
Strip1 T C 3: 107,526,252 (GRCm39) E488G possibly damaging Het
Stx18 G A 5: 38,262,235 (GRCm39) D30N possibly damaging Het
Sync T C 4: 129,181,583 (GRCm39) probably null Het
Syncrip A G 9: 88,358,849 (GRCm39) V220A probably damaging Het
Tagln2 T C 1: 172,333,476 (GRCm39) I110T probably benign Het
Taok1 T C 11: 77,432,627 (GRCm39) T729A probably benign Het
Tgfbrap1 C T 1: 43,106,759 (GRCm39) V75I possibly damaging Het
Tnfrsf21 A G 17: 43,327,957 (GRCm39) T24A probably benign Het
Tnxb T A 17: 34,932,131 (GRCm39) D2221E probably damaging Het
Triml1 A G 8: 43,583,603 (GRCm39) S333P probably damaging Het
Trp53bp1 C A 2: 121,029,594 (GRCm39) R1862L probably damaging Het
Tsc22d1 T G 14: 76,655,732 (GRCm39) I737S possibly damaging Het
U2af2 A T 7: 5,082,273 (GRCm39) K462N possibly damaging Het
Ubap2 A C 4: 41,233,631 (GRCm39) N86K probably damaging Het
Uso1 A G 5: 92,343,207 (GRCm39) K764E probably benign Het
Vmn1r192 T A 13: 22,372,122 (GRCm39) M33L probably benign Het
Other mutations in Lifr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00702:Lifr APN 15 7,215,220 (GRCm39) splice site probably null
IGL01470:Lifr APN 15 7,205,147 (GRCm39) nonsense probably null
IGL01489:Lifr APN 15 7,205,037 (GRCm39) splice site probably benign
IGL01619:Lifr APN 15 7,220,643 (GRCm39) missense probably damaging 1.00
IGL01636:Lifr APN 15 7,208,499 (GRCm39) splice site probably benign
IGL01943:Lifr APN 15 7,217,630 (GRCm39) missense probably damaging 1.00
IGL02253:Lifr APN 15 7,220,085 (GRCm39) missense probably damaging 1.00
IGL02355:Lifr APN 15 7,194,174 (GRCm39) critical splice donor site probably null
IGL02362:Lifr APN 15 7,194,174 (GRCm39) critical splice donor site probably null
IGL02450:Lifr APN 15 7,220,246 (GRCm39) missense probably damaging 1.00
IGL02477:Lifr APN 15 7,216,404 (GRCm39) missense probably damaging 1.00
IGL02503:Lifr APN 15 7,215,104 (GRCm39) missense probably damaging 1.00
IGL02571:Lifr APN 15 7,219,592 (GRCm39) unclassified probably benign
IGL03340:Lifr APN 15 7,207,417 (GRCm39) missense probably benign 0.02
N/A - 535:Lifr UTSW 15 7,216,434 (GRCm39) missense possibly damaging 0.80
R0012:Lifr UTSW 15 7,205,089 (GRCm39) missense possibly damaging 0.78
R0015:Lifr UTSW 15 7,217,667 (GRCm39) splice site probably null
R0102:Lifr UTSW 15 7,208,373 (GRCm39) missense probably damaging 0.98
R0102:Lifr UTSW 15 7,208,373 (GRCm39) missense probably damaging 0.98
R0305:Lifr UTSW 15 7,206,982 (GRCm39) missense probably damaging 0.99
R0416:Lifr UTSW 15 7,196,395 (GRCm39) missense probably damaging 1.00
R0440:Lifr UTSW 15 7,186,672 (GRCm39) nonsense probably null
R0519:Lifr UTSW 15 7,207,061 (GRCm39) missense probably damaging 1.00
R0595:Lifr UTSW 15 7,206,950 (GRCm39) missense probably damaging 1.00
R0601:Lifr UTSW 15 7,198,753 (GRCm39) splice site probably null
R0780:Lifr UTSW 15 7,206,947 (GRCm39) missense probably benign 0.00
R0790:Lifr UTSW 15 7,215,196 (GRCm39) missense probably benign 0.13
R1376:Lifr UTSW 15 7,214,245 (GRCm39) missense probably benign 0.04
R1376:Lifr UTSW 15 7,214,245 (GRCm39) missense probably benign 0.04
R1400:Lifr UTSW 15 7,220,346 (GRCm39) missense probably benign 0.04
R1498:Lifr UTSW 15 7,220,099 (GRCm39) missense probably damaging 0.99
R1785:Lifr UTSW 15 7,211,337 (GRCm39) missense possibly damaging 0.89
R1786:Lifr UTSW 15 7,211,337 (GRCm39) missense possibly damaging 0.89
R1906:Lifr UTSW 15 7,217,612 (GRCm39) missense probably damaging 0.98
R2099:Lifr UTSW 15 7,186,732 (GRCm39) missense probably benign
R2102:Lifr UTSW 15 7,216,404 (GRCm39) missense probably damaging 1.00
R2136:Lifr UTSW 15 7,211,338 (GRCm39) missense possibly damaging 0.89
R2511:Lifr UTSW 15 7,196,397 (GRCm39) missense probably benign
R4375:Lifr UTSW 15 7,196,379 (GRCm39) missense probably benign
R4883:Lifr UTSW 15 7,215,106 (GRCm39) missense possibly damaging 0.94
R5681:Lifr UTSW 15 7,220,565 (GRCm39) missense probably damaging 1.00
R5689:Lifr UTSW 15 7,214,285 (GRCm39) missense probably damaging 1.00
R5693:Lifr UTSW 15 7,205,041 (GRCm39) missense probably damaging 1.00
R5902:Lifr UTSW 15 7,220,231 (GRCm39) missense probably benign
R5918:Lifr UTSW 15 7,188,897 (GRCm39) missense probably benign 0.00
R5924:Lifr UTSW 15 7,202,453 (GRCm39) missense probably benign 0.28
R6037:Lifr UTSW 15 7,216,424 (GRCm39) missense probably damaging 1.00
R6037:Lifr UTSW 15 7,216,424 (GRCm39) missense probably damaging 1.00
R6289:Lifr UTSW 15 7,196,391 (GRCm39) missense probably benign 0.00
R6339:Lifr UTSW 15 7,196,530 (GRCm39) missense probably benign 0.01
R7106:Lifr UTSW 15 7,202,405 (GRCm39) missense probably benign 0.02
R7107:Lifr UTSW 15 7,208,421 (GRCm39) missense possibly damaging 0.88
R7274:Lifr UTSW 15 7,196,540 (GRCm39) critical splice donor site probably null
R7625:Lifr UTSW 15 7,198,723 (GRCm39) missense probably damaging 0.99
R7631:Lifr UTSW 15 7,214,258 (GRCm39) missense probably damaging 1.00
R7958:Lifr UTSW 15 7,211,478 (GRCm39) missense possibly damaging 0.62
R7991:Lifr UTSW 15 7,202,963 (GRCm39) missense possibly damaging 0.79
R8175:Lifr UTSW 15 7,216,496 (GRCm39) missense probably damaging 1.00
R8427:Lifr UTSW 15 7,220,462 (GRCm39) missense probably benign 0.01
R9274:Lifr UTSW 15 7,217,591 (GRCm39) missense probably damaging 0.98
R9311:Lifr UTSW 15 7,208,418 (GRCm39) missense possibly damaging 0.47
R9365:Lifr UTSW 15 7,198,521 (GRCm39) missense probably damaging 1.00
R9509:Lifr UTSW 15 7,188,955 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GATTTCTGCCCTATCCAAAATGG -3'
(R):5'- TACAGCAATGTGCCAGGACAC -3'

Sequencing Primer
(F):5'- GTGTAAACAGCCAATTGTTTTTAGGG -3'
(R):5'- ACTGCCCTGTGCCACAGTAC -3'
Posted On 2018-09-12