Incidental Mutation 'R9509:Lifr'
ID 718039
Institutional Source Beutler Lab
Gene Symbol Lifr
Ensembl Gene ENSMUSG00000054263
Gene Name LIF receptor alpha
Synonyms soluble differentiation-stimulating factor receptor, A230075M04Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9509 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 7120095-7226970 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 7188955 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 112 (Y112C)
Ref Sequence ENSEMBL: ENSMUSP00000064551 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067190] [ENSMUST00000164529] [ENSMUST00000171588] [ENSMUST00000226471] [ENSMUST00000226934] [ENSMUST00000227727] [ENSMUST00000228723]
AlphaFold P42703
Predicted Effect probably damaging
Transcript: ENSMUST00000067190
AA Change: Y112C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000064551
Gene: ENSMUSG00000054263
AA Change: Y112C

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: ENSMUST00000164529
AA Change: Y112C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131434
Gene: ENSMUSG00000054263
AA Change: Y112C

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: Y112C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126137
Gene: ENSMUSG00000054263
AA Change: Y112C

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: Y112C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000226934
AA Change: Y112C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000227727
AA Change: Y112C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000228723
AA Change: Y112C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik TTCCTCCTCCTCCTCCTCCTCC TTCCTCCTCCTCCTCCTCC 3: 137,771,595 (GRCm39) probably benign Het
Acan C T 7: 78,740,768 (GRCm39) P378L probably damaging Het
Akap6 A G 12: 53,189,021 (GRCm39) D2145G probably damaging Het
Akap9 A T 5: 4,096,349 (GRCm39) D2408V probably benign Het
Apol10a C A 15: 77,372,968 (GRCm39) Y201* probably null Het
Arhgef4 T C 1: 34,762,772 (GRCm39) I676T unknown Het
Capn13 T C 17: 73,644,446 (GRCm39) H361R probably benign Het
Ccdc88a G A 11: 29,414,143 (GRCm39) V894I probably benign Het
Chd4 T A 6: 125,099,485 (GRCm39) L1655Q possibly damaging Het
Chi3l1 G A 1: 134,116,413 (GRCm39) E307K probably damaging Het
Dhfr T A 13: 92,504,739 (GRCm39) I139N probably damaging Het
Dock8 A G 19: 25,072,985 (GRCm39) S422G probably benign Het
Dspp C A 5: 104,325,657 (GRCm39) D673E unknown Het
Dst G T 1: 33,947,465 (GRCm39) W38L possibly damaging Het
Dynlt1b A T 17: 6,702,415 (GRCm39) E26D probably benign Het
Dysf A T 6: 84,187,779 (GRCm39) Y2059F probably damaging Het
Efcab5 G A 11: 76,994,977 (GRCm39) S1198F possibly damaging Het
Erp44 T C 4: 48,208,750 (GRCm39) I237V probably benign Het
Exosc2 G A 2: 31,564,755 (GRCm39) V107I probably benign Het
Fat2 A G 11: 55,200,713 (GRCm39) V787A possibly damaging Het
Fbn2 C G 18: 58,247,550 (GRCm39) G448A probably benign Het
Fbxw21 A G 9: 108,977,217 (GRCm39) V164A possibly damaging Het
Gabpa G A 16: 84,649,395 (GRCm39) V201I possibly damaging Het
Gm12253 G A 11: 58,330,771 (GRCm39) V177M probably benign Het
Il2rb C A 15: 78,374,416 (GRCm39) W84L probably damaging Het
Kank4 T A 4: 98,663,104 (GRCm39) T695S possibly damaging Het
Klhl29 T C 12: 5,190,629 (GRCm39) Q122R probably damaging Het
L3mbtl1 A G 2: 162,809,303 (GRCm39) E670G probably damaging Het
Lins1 C T 7: 66,358,119 (GRCm39) Q85* probably null Het
Lpcat1 T A 13: 73,642,951 (GRCm39) V175E probably damaging Het
Mdm1 T C 10: 117,982,730 (GRCm39) S122P probably damaging Het
Mtfmt C T 9: 65,343,147 (GRCm39) R18C probably benign Het
Mylk4 T C 13: 32,904,543 (GRCm39) N197S probably benign Het
Neurl4 T A 11: 69,792,971 (GRCm39) L83* probably null Het
Nlrc3 T C 16: 3,782,680 (GRCm39) D259G probably damaging Het
Nsf A T 11: 103,754,074 (GRCm39) D487E probably benign Het
Or2n1e A G 17: 38,586,281 (GRCm39) I206M probably benign Het
Or2y1 A G 11: 49,385,476 (GRCm39) I39V probably benign Het
Or5p50 T A 7: 107,422,440 (GRCm39) T79S probably benign Het
Palb2 T A 7: 121,727,399 (GRCm39) K157M probably damaging Het
Pbrm1 T C 14: 30,806,914 (GRCm39) S1114P probably damaging Het
Pdia6 T A 12: 17,330,989 (GRCm39) M364K probably damaging Het
Pf4 G T 5: 90,921,048 (GRCm39) G83W probably damaging Het
Pibf1 T C 14: 99,338,721 (GRCm39) M79T probably benign Het
Pip4p2 T A 4: 14,892,485 (GRCm39) C116* probably null Het
Polr3b T G 10: 84,467,650 (GRCm39) Y77D probably damaging Het
Pomt2 T A 12: 87,184,802 (GRCm39) H208L possibly damaging Het
Pprc1 A T 19: 46,051,838 (GRCm39) K456M unknown Het
Rasgef1a A T 6: 118,061,391 (GRCm39) K119* probably null Het
Rbbp6 T A 7: 122,597,791 (GRCm39) Y701N unknown Het
Relch A G 1: 105,614,704 (GRCm39) E216G probably damaging Het
Reln A T 5: 22,549,198 (GRCm39) V70E possibly damaging Het
Rgs17 T C 10: 5,812,576 (GRCm39) N41S probably benign Het
Rhbdf1 A T 11: 32,165,055 (GRCm39) I106N possibly damaging Het
Robo1 T A 16: 72,759,167 (GRCm39) N393K probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,127 (GRCm39) probably benign Het
Scart2 T A 7: 139,879,644 (GRCm39) Y1093* probably null Het
Scnn1a A T 6: 125,319,604 (GRCm39) D495V probably damaging Het
Serpinf2 G A 11: 75,328,895 (GRCm39) P45L probably benign Het
Setdb1 A C 3: 95,261,900 (GRCm39) I122S possibly damaging Het
Slc4a9 A T 18: 36,668,443 (GRCm39) M701L probably damaging Het
Spata31h1 A T 10: 82,132,229 (GRCm39) N260K probably benign Het
Supv3l1 T C 10: 62,265,411 (GRCm39) T710A probably benign Het
Syne1 A T 10: 5,298,927 (GRCm39) probably null Het
Tenm3 A T 8: 48,766,292 (GRCm39) Y743* probably null Het
Tgm2 A T 2: 157,969,210 (GRCm39) Y388* probably null Het
Tor3a A G 1: 156,483,499 (GRCm39) S308P possibly damaging Het
Trim12a T C 7: 103,953,551 (GRCm39) K187E probably benign Het
Trpc1 C T 9: 95,625,249 (GRCm39) probably null Het
Uaca C T 9: 60,779,498 (GRCm39) T1295M possibly damaging Het
Ush2a T A 1: 188,648,440 (GRCm39) Y4682N probably damaging Het
Vldlr A G 19: 27,221,687 (GRCm39) N684S probably benign Het
Vmn2r72 T A 7: 85,404,075 (GRCm39) I39L probably benign Het
Vps13b A T 15: 35,841,457 (GRCm39) M2496L possibly damaging Het
Zbtb5 C T 4: 44,994,332 (GRCm39) V351M probably damaging Het
Zeb2 T A 2: 44,887,876 (GRCm39) T394S possibly damaging Het
Zfp352 A G 4: 90,112,943 (GRCm39) E361G probably damaging Het
Zfp54 C A 17: 21,654,629 (GRCm39) Y374* probably null Het
Zfp869 C A 8: 70,159,596 (GRCm39) G326W probably damaging Het
Zfyve28 C T 5: 34,354,892 (GRCm39) A806T 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
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
Predicted Primers PCR Primer
(F):5'- CGGGACACTCTTCCTCATATCG -3'
(R):5'- TGTGAGTTTGAGCCAGCGAC -3'

Sequencing Primer
(F):5'- CTTTTTGTCGTAGCATACAGTACATG -3'
(R):5'- TGTGGTGACCCATAACTCTGAGC -3'
Posted On 2022-07-18