Incidental Mutation 'R4056:Cntfr'
| ID |
314235 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntfr
|
| Ensembl Gene |
ENSMUSG00000028444 |
| Gene Name |
ciliary neurotrophic factor receptor |
| Synonyms |
Cntfralpha |
| MMRRC Submission |
041617-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4056 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
41657498-41697089 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41658900 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 277
(I277T)
|
| 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: I277T
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000100026
Gene: ENSMUSG00000028444
AA Change: I277T
| 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: I277T
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000100027
Gene: ENSMUSG00000028444
AA Change: I277T
| 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
|
| Meta Mutation Damage Score |
0.1364 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (39/39) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
T |
A |
11: 80,266,329 (GRCm39) |
|
probably benign |
Het |
| Abcf1 |
A |
G |
17: 36,270,807 (GRCm39) |
I510T |
possibly damaging |
Het |
| Adamts18 |
T |
A |
8: 114,464,212 (GRCm39) |
K749* |
probably null |
Het |
| Alms1 |
A |
G |
6: 85,564,785 (GRCm39) |
E53G |
unknown |
Het |
| Bmper |
A |
G |
9: 23,310,925 (GRCm39) |
H453R |
probably benign |
Het |
| Btg1 |
T |
A |
10: 96,454,216 (GRCm39) |
M1K |
probably null |
Het |
| Cfap91 |
A |
G |
16: 38,118,576 (GRCm39) |
V741A |
probably benign |
Het |
| Col6a4 |
C |
A |
9: 105,903,665 (GRCm39) |
R1642I |
probably damaging |
Het |
| Ctnna3 |
T |
C |
10: 64,838,347 (GRCm39) |
I808T |
probably damaging |
Het |
| Cyp1a1 |
T |
A |
9: 57,607,432 (GRCm39) |
V20D |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,961,364 (GRCm39) |
T2554A |
probably benign |
Het |
| Fcgbp |
A |
T |
7: 27,803,541 (GRCm39) |
Q1715L |
probably benign |
Het |
| Gabarapl1 |
T |
C |
6: 129,515,593 (GRCm39) |
F77S |
probably damaging |
Het |
| Gvin3 |
G |
T |
7: 106,203,216 (GRCm39) |
D9E |
possibly damaging |
Het |
| Hpse2 |
T |
C |
19: 43,282,714 (GRCm39) |
K180E |
probably damaging |
Het |
| Hs3st2 |
T |
A |
7: 121,099,925 (GRCm39) |
L257Q |
probably damaging |
Het |
| Ighv1-18 |
T |
C |
12: 114,646,287 (GRCm39) |
T106A |
probably benign |
Het |
| Ints2 |
A |
C |
11: 86,133,778 (GRCm39) |
L424R |
probably damaging |
Het |
| Iqgap2 |
A |
G |
13: 95,886,541 (GRCm39) |
V114A |
probably damaging |
Het |
| Kalrn |
A |
T |
16: 34,134,579 (GRCm39) |
I401N |
probably damaging |
Het |
| Mast2 |
T |
A |
4: 116,194,698 (GRCm39) |
|
probably benign |
Het |
| Myo18a |
A |
G |
11: 77,702,839 (GRCm39) |
E5G |
possibly damaging |
Het |
| Nav3 |
A |
T |
10: 109,716,394 (GRCm39) |
|
probably null |
Het |
| Net1 |
G |
A |
13: 3,934,949 (GRCm39) |
T359I |
probably damaging |
Het |
| Pcsk9 |
T |
A |
4: 106,301,899 (GRCm39) |
H616L |
probably benign |
Het |
| Plekha5 |
G |
T |
6: 140,534,958 (GRCm39) |
V597L |
possibly damaging |
Het |
| Plekhg3 |
T |
A |
12: 76,612,021 (GRCm39) |
I374N |
probably damaging |
Het |
| Pros1 |
A |
T |
16: 62,721,008 (GRCm39) |
R188* |
probably null |
Het |
| Rhbg |
C |
T |
3: 88,150,755 (GRCm39) |
V434I |
probably damaging |
Het |
| Rims1 |
A |
G |
1: 22,363,163 (GRCm39) |
|
probably benign |
Het |
| Rxfp2 |
T |
C |
5: 149,975,098 (GRCm39) |
|
probably null |
Het |
| Sbf2 |
T |
C |
7: 110,040,673 (GRCm39) |
I385V |
probably damaging |
Het |
| Slc22a23 |
A |
C |
13: 34,482,987 (GRCm39) |
Y181* |
probably null |
Het |
| Spata31 |
T |
A |
13: 65,069,469 (GRCm39) |
V539E |
probably benign |
Het |
| Trpv5 |
G |
A |
6: 41,636,639 (GRCm39) |
R436C |
probably damaging |
Het |
| Vmn1r13 |
G |
A |
6: 57,186,970 (GRCm39) |
C43Y |
probably benign |
Het |
| Wif1 |
G |
A |
10: 120,918,099 (GRCm39) |
V156I |
probably benign |
Het |
| Zfyve16 |
T |
C |
13: 92,641,057 (GRCm39) |
N1229S |
probably damaging |
Het |
|
| Other mutations in Cntfr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- ATGTCTGTCACAGCCAGAGAG -3'
(R):5'- TGAAGGACATTCACGGTGGC -3'
Sequencing Primer
(F):5'- AGAGGCTCTGCTCCCAG -3'
(R):5'- ACATTCACGGTGGCCCTCTC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation