Incidental Mutation 'R9736:Cntfr'
ID 731665
Institutional Source Beutler Lab
Gene Symbol Cntfr
Ensembl Gene ENSMUSG00000028444
Gene Name ciliary neurotrophic factor receptor
Synonyms Cntfralpha
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9736 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 41657498-41697089 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41658290 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 357 (T357A)
Ref Sequence ENSEMBL: ENSMUSP00000100026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102961] [ENSMUST00000102962]
AlphaFold O88507
Predicted Effect unknown
Transcript: ENSMUST00000102961
AA Change: T357A
SMART Domains Protein: ENSMUSP00000100026
Gene: ENSMUSG00000028444
AA Change: T357A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IGc2 37 96 1.87e-12 SMART
Blast:FN3 106 190 8e-37 BLAST
FN3 204 290 1.1e-7 SMART
low complexity region 309 332 N/A INTRINSIC
low complexity region 356 371 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000102962
AA Change: T357A
SMART Domains Protein: ENSMUSP00000100027
Gene: ENSMUSG00000028444
AA Change: T357A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IGc2 37 96 1.87e-12 SMART
Blast:FN3 106 190 8e-37 BLAST
FN3 204 290 1.1e-7 SMART
low complexity region 309 332 N/A INTRINSIC
low complexity region 356 371 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.2%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the alpha subunit of the ciliary neurotrophic factor (CNTF) receptor that triggers the assembly of a trimolecular complex upon binding to CNTF, and initiate a downstream signaling process. The encoded preproprotein undergoes proteolytic processing to generate a glycosylphosphatidylinositol-linked cell surface protein. Mice lacking the encoded protein die shortly after birth and exhibit a reduction of motoneuron number at birth. The transgenic disruption of this gene specifically in the skeletal muscle followed by a peripheral nerve lesion impairs motor neuron axonal regeneration across the lesion site. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous mutant animals exhibit a significant reduction in the number of motor neurons. Neonatal mutants fail to suckle and die within 24 hours after birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf2 A G 17: 43,022,212 (GRCm39) I204T probably benign Het
Apc T A 18: 34,450,823 (GRCm39) I2573N probably damaging Het
Ash1l A G 3: 88,891,733 (GRCm39) D1204G probably damaging Het
Atp10a T A 7: 58,474,078 (GRCm39) F1122I probably damaging Het
Cage1 A C 13: 38,207,393 (GRCm39) S151A probably damaging Het
Calhm2 G A 19: 47,121,597 (GRCm39) L191F probably benign Het
Cd109 C T 9: 78,619,918 (GRCm39) P1387S probably damaging Het
Cdhr2 T C 13: 54,872,041 (GRCm39) L635S possibly damaging Het
Cpox A G 16: 58,494,746 (GRCm39) N261S probably benign Het
Crygb A T 1: 65,119,707 (GRCm39) M91K probably benign Het
Ctnnd1 T C 2: 84,442,430 (GRCm39) K634R probably benign Het
D6Ertd527e G C 6: 87,088,839 (GRCm39) S334T unknown Het
Dmgdh T G 13: 93,843,158 (GRCm39) F331L possibly damaging Het
Dpp10 T A 1: 123,262,088 (GRCm39) I765F possibly damaging Het
Fat2 T A 11: 55,194,751 (GRCm39) D1096V probably damaging Het
Fhod1 G A 8: 106,059,597 (GRCm39) T696I probably damaging Het
Gopc A T 10: 52,229,558 (GRCm39) D220E possibly damaging Het
Grin3a C A 4: 49,672,472 (GRCm39) probably null Het
Gsdma C T 11: 98,567,169 (GRCm39) P423L probably damaging Het
Gucy2d G A 7: 98,092,683 (GRCm39) W20* probably null Het
Irs2 G A 8: 11,058,217 (GRCm39) R72W probably damaging Het
Lmo7 A G 14: 102,157,929 (GRCm39) I1421V unknown Het
Mab21l4 A G 1: 93,087,661 (GRCm39) V64A probably damaging Het
Micu1 C T 10: 59,699,123 (GRCm39) Q467* probably null Het
Mycbp2 A G 14: 103,434,852 (GRCm39) V2197A probably damaging Het
Myh2 T C 11: 67,063,999 (GRCm39) S20P probably benign Het
Nwd2 A G 5: 63,951,600 (GRCm39) I210M probably damaging Het
Or4k45 A T 2: 111,395,626 (GRCm39) H54Q probably benign Het
Or5al5 T A 2: 85,961,640 (GRCm39) R122S probably damaging Het
Or5an1c A T 19: 12,218,920 (GRCm39) I35N probably damaging Het
Pon3 A G 6: 5,232,339 (GRCm39) V227A probably benign Het
Psme4 T A 11: 30,797,411 (GRCm39) I1309K probably damaging Het
Ptprm T A 17: 66,997,562 (GRCm39) Y1178F probably damaging Het
Qser1 A G 2: 104,619,988 (GRCm39) S185P probably benign Het
Wdr37 C A 13: 8,911,136 (GRCm39) M42I probably benign Het
Wwp1 T A 4: 19,631,202 (GRCm39) E610D probably damaging Het
Zbbx A G 3: 74,968,741 (GRCm39) F572L unknown Het
Other mutations in Cntfr
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1215:Cntfr UTSW 4 41,662,064 (GRCm39) missense probably damaging 1.00
R1635:Cntfr UTSW 4 41,658,816 (GRCm39) missense probably damaging 1.00
R1795:Cntfr UTSW 4 41,670,841 (GRCm39) critical splice donor site probably null
R2115:Cntfr UTSW 4 41,663,534 (GRCm39) splice site probably null
R2437:Cntfr UTSW 4 41,671,035 (GRCm39) missense probably damaging 0.99
R4056:Cntfr UTSW 4 41,658,900 (GRCm39) missense probably damaging 0.99
R4770:Cntfr UTSW 4 41,663,282 (GRCm39) missense possibly damaging 0.57
R5245:Cntfr UTSW 4 41,670,879 (GRCm39) missense possibly damaging 0.92
R5346:Cntfr UTSW 4 41,675,042 (GRCm39) nonsense probably null
R5436:Cntfr UTSW 4 41,663,322 (GRCm39) missense probably damaging 0.98
R5535:Cntfr UTSW 4 41,663,216 (GRCm39) missense probably benign 0.44
R6275:Cntfr UTSW 4 41,663,216 (GRCm39) missense possibly damaging 0.89
R6749:Cntfr UTSW 4 41,663,232 (GRCm39) missense possibly damaging 0.47
R7626:Cntfr UTSW 4 41,662,013 (GRCm39) missense possibly damaging 0.89
R9006:Cntfr UTSW 4 41,661,971 (GRCm39) critical splice donor site probably null
R9524:Cntfr UTSW 4 41,661,995 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AATAGAAACCGGGGTCTGC -3'
(R):5'- ATGGGAGAGGCAACCCTAAC -3'

Sequencing Primer
(F):5'- TCTGCAGGCTCAGCTCC -3'
(R):5'- GGAGAGGCAACCCTAACCTCATC -3'
Posted On 2022-11-14