Incidental Mutation 'R1215:Cntfr'
| ID |
99558 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntfr
|
| Ensembl Gene |
ENSMUSG00000028444 |
| Gene Name |
ciliary neurotrophic factor receptor |
| Synonyms |
Cntfralpha |
| MMRRC Submission |
039284-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1215 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
41657498-41697089 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 41662064 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 226
(W226L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100027
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102961]
[ENSMUST00000102962]
|
| AlphaFold |
O88507 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102961
AA Change: W226L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000100026
Gene: ENSMUSG00000028444
AA Change: W226L
| Domain | Start | End | E-Value | Type |
|---|
|
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: W226L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000100027
Gene: ENSMUSG00000028444
AA Change: W226L
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
noncoding transcript
Transcript: ENSMUST00000151181
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.5%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Art5 |
C |
T |
7: 101,747,116 (GRCm39) |
R123H |
probably damaging |
Het |
| Azin2 |
A |
G |
4: 128,843,489 (GRCm39) |
S66P |
probably damaging |
Het |
| Cep295 |
T |
C |
9: 15,239,178 (GRCm39) |
E1865G |
probably benign |
Het |
| Ces1a |
A |
G |
8: 93,759,318 (GRCm39) |
C273R |
probably damaging |
Het |
| Cfap44 |
A |
G |
16: 44,239,666 (GRCm39) |
Y571C |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,868,227 (GRCm39) |
|
probably null |
Het |
| Cyp2a4 |
C |
T |
7: 26,014,226 (GRCm39) |
P468S |
possibly damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| E130308A19Rik |
T |
A |
4: 59,690,743 (GRCm39) |
D192E |
probably benign |
Het |
| Fam184b |
C |
T |
5: 45,741,520 (GRCm39) |
R237H |
probably damaging |
Het |
| Fmn1 |
T |
A |
2: 113,523,375 (GRCm39) |
Y1247* |
probably null |
Het |
| Grb14 |
T |
C |
2: 64,747,608 (GRCm39) |
S18G |
probably benign |
Het |
| Hs2st1 |
G |
A |
3: 144,170,902 (GRCm39) |
T90I |
possibly damaging |
Het |
| Mcc |
A |
T |
18: 44,601,561 (GRCm39) |
N589K |
possibly damaging |
Het |
| Mff |
T |
A |
1: 82,719,609 (GRCm39) |
S196T |
probably benign |
Het |
| Nyap1 |
C |
T |
5: 137,733,395 (GRCm39) |
W546* |
probably null |
Het |
| Or13p10 |
A |
T |
4: 118,523,496 (GRCm39) |
M261L |
possibly damaging |
Het |
| Ppp2r3d |
A |
G |
9: 101,089,883 (GRCm39) |
S147P |
probably benign |
Het |
| Rsph14 |
T |
C |
10: 74,860,898 (GRCm39) |
H134R |
probably benign |
Het |
| Slc25a3 |
G |
A |
10: 90,953,170 (GRCm39) |
A274V |
possibly damaging |
Het |
| Slc43a2 |
T |
A |
11: 75,453,688 (GRCm39) |
W229R |
probably damaging |
Het |
| Slco4c1 |
C |
A |
1: 96,756,596 (GRCm39) |
L575F |
probably damaging |
Het |
| Smyd4 |
T |
A |
11: 75,281,121 (GRCm39) |
I198N |
possibly damaging |
Het |
| Trpm6 |
A |
G |
19: 18,773,862 (GRCm39) |
D413G |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,689,479 (GRCm39) |
T33A |
possibly damaging |
Het |
| Zfp871 |
A |
T |
17: 32,994,946 (GRCm39) |
D57E |
possibly damaging |
Het |
| Zfyve9 |
T |
C |
4: 108,507,426 (GRCm39) |
Q1176R |
probably benign |
Het |
|
| Other mutations in Cntfr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R9736:Cntfr
|
UTSW |
4 |
41,658,290 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTTTCCCAAACCCACGGGATGC -3'
(R):5'- GTAGTTGCCAGAGCTGACAACAGAG -3'
Sequencing Primer
(F):5'- CCTCTCAGACTCACATCGGG -3'
(R):5'- AGAGATGGTGACTGTCAATGG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation