Mutagenetix > Incidental Mutation

Incidental Mutation 'R4883:Lifr'

375462

Institutional Source

Beutler Lab

Gene Symbol

Lifr

Ensembl Gene

ENSMUSG00000054263

Gene Name

LIF receptor alpha

Synonyms

soluble differentiation-stimulating factor receptor, A230075M04Rik

MMRRC Submission

042491-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4883 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7120095-7226970 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 7215106 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 738 (K738E)

Ref Sequence

ENSEMBL: ENSMUSP00000154750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067190] [ENSMUST00000164529] [ENSMUST00000171588] [ENSMUST00000226471] [ENSMUST00000226934] [ENSMUST00000227727]

AlphaFold

P42703

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067190
AA Change: K738E

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000064551
Gene: ENSMUSG00000054263
AA Change: K738E

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000171588
AA Change: K738E

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126137
Gene: ENSMUSG00000054263
AA Change: K738E

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000226471
AA Change: K738E

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000226934

Predicted Effect

probably benign
Transcript: ENSMUST00000227727

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.2%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	C	11: 110,217,457 (GRCm39)	D133G	probably damaging	Het
Abcg4	G	T	9: 44,190,616 (GRCm39)	H55Q	probably damaging	Het
Acaca	T	A	11: 84,142,116 (GRCm39)	V641E	probably benign	Het
Adam28	T	C	14: 68,875,552 (GRCm39)	I229V	probably damaging	Het
Adgrl3	T	A	5: 81,837,493 (GRCm39)	I793N	probably damaging	Het
Akr1d1	A	T	6: 37,535,336 (GRCm39)	D240V	possibly damaging	Het
Arhgef25	T	C	10: 127,018,802 (GRCm39)	D548G	probably benign	Het
Asl	A	G	5: 130,042,802 (GRCm39)		probably null	Het
Atg14	C	T	14: 47,788,771 (GRCm39)	R194Q	probably damaging	Het
BC004004	T	A	17: 29,501,166 (GRCm39)	F38L	probably damaging	Het
Btg1	T	C	10: 96,453,259 (GRCm39)	F25L	probably benign	Het
Btrc	C	T	19: 45,445,026 (GRCm39)	P35S	probably benign	Het
Calcr	T	A	6: 3,714,705 (GRCm39)	N142Y	probably damaging	Het
Ccdc138	A	G	10: 58,397,818 (GRCm39)	I553V	probably benign	Het
Ccdc198	T	A	14: 49,482,560 (GRCm39)	N52I	probably damaging	Het
Cdc42	T	A	4: 137,056,115 (GRCm39)	N132I	probably benign	Het
Ces1e	A	G	8: 93,950,716 (GRCm39)	S22P	probably benign	Het
Clmn	G	T	12: 104,748,307 (GRCm39)	D413E	probably benign	Het
Cramp1	T	C	17: 25,201,293 (GRCm39)	T730A	probably benign	Het
Dnah5	A	T	15: 28,343,784 (GRCm39)	M2395L	probably benign	Het
Ephx1	G	T	1: 180,829,488 (GRCm39)	S20Y	possibly damaging	Het
Exoc5	T	G	14: 49,289,821 (GRCm39)	E19A	probably damaging	Het
Fam120b	T	C	17: 15,623,294 (GRCm39)	L424P	probably benign	Het
Fam89a	G	A	8: 125,467,823 (GRCm39)	T163I	possibly damaging	Het
Fcrl2	G	A	3: 87,166,922 (GRCm39)	L24F	possibly damaging	Het
Fgd6	G	T	10: 93,975,715 (GRCm39)	V1377L	probably benign	Het
Glud1	T	A	14: 34,057,347 (GRCm39)	I337K	possibly damaging	Het
Gm6370	T	A	5: 146,430,736 (GRCm39)	I303N	probably benign	Het
Gm7995	T	C	14: 42,133,383 (GRCm39)	Y88H	probably damaging	Het
Gsdma3	T	C	11: 98,520,393 (GRCm39)		probably null	Het
Gsdmc2	T	C	15: 63,707,614 (GRCm39)	D60G	probably damaging	Het
Hcn1	T	A	13: 118,039,431 (GRCm39)		probably null	Het
Hectd1	A	T	12: 51,831,030 (GRCm39)	C936*	probably null	Het
Herc4	T	A	10: 63,121,433 (GRCm39)	S358T	probably benign	Het
Hk3	A	G	13: 55,158,735 (GRCm39)	C515R	probably benign	Het
Ighg1	A	G	12: 113,291,138 (GRCm39)		probably benign	Het
Iqgap3	T	A	3: 88,014,842 (GRCm39)	C853S	probably benign	Het
Irx4	G	A	13: 73,415,750 (GRCm39)	A180T	probably damaging	Het
Kif20b	A	G	19: 34,943,522 (GRCm39)	T1441A	probably benign	Het
Lmntd2	A	T	7: 140,792,531 (GRCm39)	S218T	probably damaging	Het
Lnx1	A	T	5: 74,768,530 (GRCm39)	W353R	probably benign	Het
Lrfn3	G	T	7: 30,055,238 (GRCm39)	P569Q	possibly damaging	Het
Mamstr	A	G	7: 45,293,838 (GRCm39)	I11V	probably benign	Het
Med31	T	C	11: 72,104,975 (GRCm39)	N32S	possibly damaging	Het
Mob3c	A	T	4: 115,690,928 (GRCm39)	I173F	probably benign	Het
Morc3	A	G	16: 93,667,250 (GRCm39)		probably null	Het
Mphosph9	T	C	5: 124,437,108 (GRCm39)	K412R	probably damaging	Het
Mtcl3	A	T	10: 29,072,537 (GRCm39)	N610Y	probably damaging	Het
Mthfd1l	C	T	10: 3,957,775 (GRCm39)	P271S	probably benign	Het
Ncam1	C	T	9: 49,453,183 (GRCm39)		probably null	Het
Ncbp3	T	A	11: 72,960,578 (GRCm39)	Y279N	probably damaging	Het
Ncoa6	G	A	2: 155,248,687 (GRCm39)	T1539I	probably benign	Het
Nedd4	G	A	9: 72,647,515 (GRCm39)		probably null	Het
Neil1	A	G	9: 57,054,206 (GRCm39)	V38A	probably damaging	Het
Ngf	T	A	3: 102,427,961 (GRCm39)	F237I	probably damaging	Het
Nol3	A	G	8: 106,005,888 (GRCm39)	Q94R	possibly damaging	Het
Obox1	A	G	7: 15,290,263 (GRCm39)	N202S	probably damaging	Het
Odc1	T	A	12: 17,597,386 (GRCm39)	N29K	possibly damaging	Het
Or2b7	C	T	13: 21,739,658 (GRCm39)	R178H	probably benign	Het
Or2h15	T	C	17: 38,441,508 (GRCm39)	T192A	probably damaging	Het
Or4a69	C	T	2: 89,312,652 (GRCm39)	V276I	probably benign	Het
Or52a20	A	C	7: 103,365,914 (GRCm39)	I38L	probably benign	Het
P2rx7	T	A	5: 122,819,129 (GRCm39)	V517E	probably damaging	Het
Parm1	A	G	5: 91,741,775 (GRCm39)	T48A	possibly damaging	Het
Pcdh9	T	A	14: 94,126,164 (GRCm39)	D2V	possibly damaging	Het
Pgm3	G	T	9: 86,451,378 (GRCm39)	T92N	probably damaging	Het
Plcg2	G	T	8: 118,333,872 (GRCm39)	G882*	probably null	Het
Ptpn14	C	T	1: 189,582,997 (GRCm39)	P615S	probably damaging	Het
Ptprk	A	T	10: 28,464,928 (GRCm39)	Y1244F	probably damaging	Het
Rere	G	A	4: 150,700,510 (GRCm39)	A1162T	probably damaging	Het
Rfx2	T	C	17: 57,090,747 (GRCm39)	E391G	probably damaging	Het
Sema4c	A	G	1: 36,591,097 (GRCm39)	V414A	probably damaging	Het
Serpinb10	A	T	1: 107,468,681 (GRCm39)	N185I	probably damaging	Het
Shroom3	T	G	5: 93,098,993 (GRCm39)	M1410R	probably benign	Het
Slc13a1	A	T	6: 24,134,356 (GRCm39)	S176T	probably benign	Het
Sntb1	A	T	15: 55,506,198 (GRCm39)	Y458*	probably null	Het
Sorcs1	C	T	19: 50,220,741 (GRCm39)	V570I	probably benign	Het
Sp8	T	A	12: 118,812,805 (GRCm39)	V220E	probably damaging	Het
Spry1	C	T	3: 37,696,868 (GRCm39)	T37M	possibly damaging	Het
Sspo	A	T	6: 48,437,756 (GRCm39)	H1305L	probably benign	Het
Tbc1d22a	A	G	15: 86,381,117 (GRCm39)	D509G	possibly damaging	Het
Tmem108	A	T	9: 103,376,276 (GRCm39)	V391D	possibly damaging	Het
Tmem132d	T	A	5: 128,346,366 (GRCm39)	H52L	possibly damaging	Het
Tmem132d	T	A	5: 128,346,364 (GRCm39)	I53F	probably damaging	Het
Tnnt2	A	T	1: 135,775,496 (GRCm39)	R87*	probably null	Het
Ube3a	A	T	7: 58,893,198 (GRCm39)	M1L	probably benign	Het
Unc79	A	G	12: 103,060,592 (GRCm39)	T1119A	probably damaging	Het
Usf3	A	T	16: 44,039,942 (GRCm39)	H1474L	probably damaging	Het
Vcpip1	G	A	1: 9,817,423 (GRCm39)	T320I	probably damaging	Het
Vmn1r56	A	G	7: 5,199,443 (GRCm39)	L58P	probably damaging	Het
Wdr53	A	T	16: 32,075,796 (GRCm39)	K334*	probably null	Het
Zbtb40	T	A	4: 136,728,241 (GRCm39)	R459W	probably benign	Het
Zfc3h1	T	A	10: 115,246,547 (GRCm39)	L878Q	probably damaging	Het
Zfp286	T	C	11: 62,671,455 (GRCm39)	D206G	probably benign	Het
Zfp46	T	A	4: 136,017,792 (GRCm39)	C209S	probably damaging	Het
Zup1	G	T	10: 33,825,038 (GRCm39)	T148K	probably damaging	Het

Other mutations in Lifr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- CCGCCTGGTTATTAGCGTAGAG -3'
(R):5'- CTGCTCTTATGTGGCCAGTG -3'

Sequencing Primer
(F):5'- GCGTAGAGTTGTTCAATCATCAGAG -3'
(R):5'- CCAGTGGAAGTCTGTCTGTC -3'

Posted On

2016-03-17