Incidental Mutation 'R9524:Cntfr'
ID 719069
Institutional Source Beutler Lab
Gene Symbol Cntfr
Ensembl Gene ENSMUSG00000028444
Gene Name ciliary neurotrophic factor receptor
Synonyms Cntfralpha
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9524 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 41657498-41697089 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41661995 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 249 (L249P)
Ref Sequence ENSEMBL: ENSMUSP00000100026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102961] [ENSMUST00000102962]
AlphaFold O88507
Predicted Effect probably damaging
Transcript: ENSMUST00000102961
AA Change: L249P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100026
Gene: ENSMUSG00000028444
AA Change: L249P

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 probably damaging
Transcript: ENSMUST00000102962
AA Change: L249P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100027
Gene: ENSMUSG00000028444
AA Change: L249P

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik T G 11: 58,180,594 (GRCm39) probably null Het
Adra2c G A 5: 35,438,143 (GRCm39) R305Q probably benign Het
Ahnak A G 19: 9,014,617 (GRCm39) D147G Het
Arhgap30 T A 1: 171,225,114 (GRCm39) S57T probably damaging Het
Aspm T C 1: 139,408,607 (GRCm39) I2498T probably damaging Het
Atr C T 9: 95,792,610 (GRCm39) A1644V possibly damaging Het
Cc2d1a G T 8: 84,870,744 (GRCm39) D101E probably benign Het
D130043K22Rik T C 13: 25,071,876 (GRCm39) I940T possibly damaging Het
Dnah12 T G 14: 26,572,494 (GRCm39) C2862G probably null Het
Dnah8 CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT 17: 30,979,841 (GRCm39) probably null Het
Dnah9 A G 11: 65,976,309 (GRCm39) F1247L possibly damaging Het
Dpp10 T C 1: 123,264,611 (GRCm39) Q737R probably damaging Het
Dpp3 A G 19: 4,959,897 (GRCm39) V673A possibly damaging Het
Eif2a A T 3: 58,448,467 (GRCm39) K100I possibly damaging Het
Flnc C A 6: 29,461,109 (GRCm39) N2694K probably damaging Het
Fv1 T A 4: 147,953,768 (GRCm39) D111E possibly damaging Het
Gcnt3 G A 9: 69,941,569 (GRCm39) A333V probably damaging Het
Gpr151 T C 18: 42,712,710 (GRCm39) probably benign Het
Gxylt2 A G 6: 100,727,416 (GRCm39) T177A probably benign Het
Hnmt G A 2: 23,893,880 (GRCm39) L205F possibly damaging Het
Ikbkb A T 8: 23,172,740 (GRCm39) probably null Het
Ikzf2 T C 1: 69,578,337 (GRCm39) S391G probably benign Het
Kif26a C T 12: 112,140,286 (GRCm39) T505M probably damaging Het
Kif3b A T 2: 153,159,460 (GRCm39) K420N probably benign Het
Kmt2a A G 9: 44,730,294 (GRCm39) V3341A unknown Het
Lce1i T C 3: 92,685,081 (GRCm39) K32E unknown Het
Lmf1 A G 17: 25,881,514 (GRCm39) Y521C probably damaging Het
Mki67 C T 7: 135,305,913 (GRCm39) C655Y probably damaging Het
Morc3 T A 16: 93,667,401 (GRCm39) V593E probably benign Het
Muc16 A G 9: 18,497,314 (GRCm39) F6613L probably benign Het
Naip1 G A 13: 100,563,101 (GRCm39) T688I probably benign Het
Or2n1d T A 17: 38,646,540 (GRCm39) L164* probably null Het
Otop2 T A 11: 115,214,503 (GRCm39) C87S probably benign Het
Picalm T A 7: 89,810,484 (GRCm39) L97* probably null Het
Pik3c2g T A 6: 139,606,768 (GRCm39) W272R probably damaging Het
Plekhg4 G A 8: 106,101,398 (GRCm39) G20R unknown Het
Ppp1r35 G A 5: 137,777,304 (GRCm39) A17T unknown Het
Ppp2r5e A T 12: 75,509,167 (GRCm39) Y371N possibly damaging Het
Rexo1 T C 10: 80,386,872 (GRCm39) E62G probably damaging Het
Rtl1 T C 12: 109,556,973 (GRCm39) E1622G probably damaging Het
Ryr1 T C 7: 28,723,600 (GRCm39) E4181G probably damaging Het
Saxo1 C A 4: 86,397,132 (GRCm39) M135I probably benign Het
Shank2 C A 7: 143,964,183 (GRCm39) P597Q possibly damaging Het
Shld2 G A 14: 33,971,245 (GRCm39) Q547* probably null Het
Slc44a1 G A 4: 53,542,389 (GRCm39) V308I probably benign Het
Slc6a21 A G 7: 44,937,785 (GRCm39) H367R probably benign Het
Snx11 G T 11: 96,660,023 (GRCm39) T222K probably benign Het
Snx4 C T 16: 33,112,228 (GRCm39) Q388* probably null Het
Sulf1 T C 1: 12,918,622 (GRCm39) L831P probably damaging Het
Ugt2a3 A T 5: 87,485,018 (GRCm39) V2D Het
Unc5c T C 3: 141,494,683 (GRCm39) V406A possibly damaging Het
Unc5d A C 8: 29,365,639 (GRCm39) N115K probably damaging Het
Usp28 C A 9: 48,947,026 (GRCm39) T819N probably damaging Het
Usp42 T C 5: 143,702,704 (GRCm39) D639G possibly damaging Het
Vmn2r102 T A 17: 19,897,564 (GRCm39) M193K possibly damaging Het
Vmn2r12 A G 5: 109,239,823 (GRCm39) Y247H probably damaging Het
Vps13d T C 4: 144,822,814 (GRCm39) D2989G Het
Vsig2 A G 9: 37,455,335 (GRCm39) E295G probably benign Het
Wdfy3 T A 5: 102,055,333 (GRCm39) N1579I probably benign Het
Zfp521 T C 18: 13,980,173 (GRCm39) D80G possibly damaging Het
Zfp663 A C 2: 165,195,607 (GRCm39) L204R probably damaging 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
R9736:Cntfr UTSW 4 41,658,290 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CCAGTATTCTGATGAGGGTGC -3'
(R):5'- CCAGAGCACACTGATGAAGC -3'

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