Incidental Mutation 'R1498:Lifr'
ID 169072
Institutional Source Beutler Lab
Gene Symbol Lifr
Ensembl Gene ENSMUSG00000054263
Gene Name LIF receptor alpha
Synonyms soluble differentiation-stimulating factor receptor, A230075M04Rik
MMRRC Submission 039549-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1498 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 7120095-7226970 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 7220099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 910 (S910P)
Ref Sequence ENSEMBL: ENSMUSP00000154750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067190] [ENSMUST00000171588] [ENSMUST00000226471] [ENSMUST00000226934]
AlphaFold P42703
Predicted Effect probably damaging
Transcript: ENSMUST00000067190
AA Change: S910P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000064551
Gene: ENSMUSG00000054263
AA Change: S910P

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: ENSMUST00000171588
AA Change: S910P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126137
Gene: ENSMUSG00000054263
AA Change: S910P

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: S910P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000226934
Meta Mutation Damage Score 0.0693 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.6%
Validation Efficiency 97% (83/86)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly A G 11: 100,374,627 (GRCm39) S799P probably benign Het
Acvr1b T C 15: 101,091,891 (GRCm39) F57S probably benign Het
Adamts5 T A 16: 85,696,990 (GRCm39) T56S possibly damaging Het
Adrb2 T C 18: 62,312,004 (GRCm39) T274A probably damaging Het
Agr3 A T 12: 35,984,379 (GRCm39) probably null Het
Ankrd6 A G 4: 32,810,289 (GRCm39) M405T probably benign Het
Aoc1l2 A G 6: 48,908,305 (GRCm39) H435R probably benign Het
Aqp5 T C 15: 99,491,128 (GRCm39) I60T probably damaging Het
Arf5 G T 6: 28,426,153 (GRCm39) R180L probably benign Het
Asap3 A G 4: 135,966,505 (GRCm39) N528D probably benign Het
Atmin G A 8: 117,681,540 (GRCm39) E180K probably benign Het
Bcl11a A T 11: 24,114,005 (GRCm39) E449D probably damaging Het
Cep128 A T 12: 91,333,191 (GRCm39) F25I probably benign Het
Cfp GCAC GC X: 20,795,905 (GRCm39) probably null Het
Chpt1 T A 10: 88,312,966 (GRCm39) Y282F possibly damaging Het
Cul7 A G 17: 46,966,636 (GRCm39) D355G probably benign Het
Daxx T C 17: 34,131,227 (GRCm39) Y385H probably damaging Het
Dnah2 A C 11: 69,411,493 (GRCm39) probably null Het
Dscc1 CTGAATGAAT CTGAAT 15: 54,943,572 (GRCm39) probably benign Het
Erc2 T A 14: 28,024,855 (GRCm39) M578K probably benign Het
Evc T A 5: 37,481,044 (GRCm39) H267L possibly damaging Het
Exosc10 A C 4: 148,666,243 (GRCm39) Q837P possibly damaging Het
Fasn G A 11: 120,706,245 (GRCm39) T1033I probably damaging Het
Fat1 C A 8: 45,478,521 (GRCm39) Y2522* probably null Het
Fbxw8 G A 5: 118,203,850 (GRCm39) probably benign Het
Fyn A G 10: 39,408,120 (GRCm39) D321G possibly damaging Het
Grm6 G A 11: 50,748,083 (GRCm39) V398M probably damaging Het
Gtpbp1 T A 15: 79,603,222 (GRCm39) probably null Het
Hnf1a A G 5: 115,108,596 (GRCm39) V103A probably damaging Het
Hsp90aa1 A T 12: 110,662,122 (GRCm39) probably null Het
Iqgap2 C T 13: 95,783,313 (GRCm39) V1288I probably benign Het
Irx5 A G 8: 93,086,514 (GRCm39) D199G probably damaging Het
Klrh1 A G 6: 129,748,703 (GRCm39) S105P probably damaging Het
Krt9 G T 11: 100,079,195 (GRCm39) C732* probably null Het
Lrig1 G A 6: 94,604,968 (GRCm39) A209V possibly damaging Het
Lrrk1 T A 7: 65,952,419 (GRCm39) R506* probably null Het
Lyst T A 13: 13,824,960 (GRCm39) I1525K possibly damaging Het
Mad2l1 C T 6: 66,516,826 (GRCm39) Q173* probably null Het
Mcoln1 T A 8: 3,562,861 (GRCm39) I524N probably damaging Het
Mmp3 A T 9: 7,446,967 (GRCm39) D49V possibly damaging Het
Morc3 A T 16: 93,650,743 (GRCm39) N321I probably damaging Het
Mrpl48 T C 7: 100,195,695 (GRCm39) probably benign Het
Myo6 T A 9: 80,214,961 (GRCm39) D1231E probably damaging Het
Nlrc4 A G 17: 74,753,408 (GRCm39) I325T probably benign Het
Or1j19 A T 2: 36,677,358 (GRCm39) I274F probably damaging Het
Or2ag17 T C 7: 106,389,623 (GRCm39) Y195C possibly damaging Het
Or4f61 A T 2: 111,922,938 (GRCm39) M36K probably benign Het
Or8c16 C G 9: 38,130,676 (GRCm39) P183A probably damaging Het
Or8k32 A G 2: 86,368,902 (GRCm39) V117A probably benign Het
Parvg T A 15: 84,218,832 (GRCm39) S230T possibly damaging Het
Pcca T C 14: 122,854,230 (GRCm39) I118T probably damaging Het
Pde6a A G 18: 61,365,932 (GRCm39) N219S possibly damaging Het
Phldb1 G T 9: 44,612,915 (GRCm39) P935Q possibly damaging Het
Plppr5 T C 3: 117,456,261 (GRCm39) S261P probably damaging Het
Ppl T C 16: 4,922,629 (GRCm39) N260S probably benign Het
Ppp1r3e A T 14: 55,113,882 (GRCm39) H263Q probably benign Het
Ppp3cb T C 14: 20,559,567 (GRCm39) probably null Het
Ppt2 A T 17: 34,842,075 (GRCm39) D185E probably benign Het
Prr27 A T 5: 87,998,600 (GRCm39) probably benign Het
Ptcd3 A T 6: 71,870,479 (GRCm39) V327E probably damaging Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Rsf1 GCG GCGACG 7: 97,229,114 (GRCm39) probably benign Het
Rtp1 A T 16: 23,249,970 (GRCm39) M112L probably benign Het
Slc22a5 A T 11: 53,760,140 (GRCm39) L392Q probably damaging Het
Slc6a7 A G 18: 61,129,764 (GRCm39) I614T probably benign Het
Slu7 C A 11: 43,329,044 (GRCm39) P89T possibly damaging Het
Smarcc2 T C 10: 128,318,061 (GRCm39) V618A probably benign Het
Sorl1 C T 9: 41,952,369 (GRCm39) R729Q probably damaging Het
Sptbn2 T C 19: 4,794,274 (GRCm39) F1493L possibly damaging Het
Sulf1 C T 1: 12,918,574 (GRCm39) T66I probably damaging Het
Tgtp2 A G 11: 48,950,165 (GRCm39) Y136H probably damaging Het
Tmem117 T C 15: 94,536,242 (GRCm39) F92S probably damaging Het
Tmprss9 T A 10: 80,730,934 (GRCm39) V820E probably benign Het
Tpcn2 A G 7: 144,822,648 (GRCm39) Y266H probably damaging Het
Trat1 A G 16: 48,555,304 (GRCm39) S143P probably benign Het
Vmn1r49 T A 6: 90,049,298 (GRCm39) R235W probably damaging Het
Vmn1r71 A T 7: 10,482,575 (GRCm39) C38S probably benign Het
Vmn2r6 T A 3: 64,463,890 (GRCm39) T315S probably damaging Het
Wdr36 A G 18: 32,986,021 (GRCm39) D575G possibly damaging Het
Zfp292 G T 4: 34,805,397 (GRCm39) A2549E possibly damaging Het
Zfp354a A T 11: 50,961,073 (GRCm39) H426L probably damaging Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Zfp648 T A 1: 154,081,119 (GRCm39) I426N probably damaging Het
Zfp87 T C 13: 74,520,736 (GRCm39) N114S 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
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
R6860:Lifr UTSW 15 7,202,418 (GRCm39) missense probably benign 0.02
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'- GTAGCTTCGCTCTGGATGTGAACTC -3'
(R):5'- ATCTGTGGCTTATAGCCTGCCACC -3'

Sequencing Primer
(F):5'- TAGAGCTGCCGAGGCAAAG -3'
(R):5'- TGATACATGGACTGCACATCG -3'
Posted On 2014-04-13