Incidental Mutation 'R5346:Cntfr'
| ID |
422601 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntfr
|
| Ensembl Gene |
ENSMUSG00000028444 |
| Gene Name |
ciliary neurotrophic factor receptor |
| Synonyms |
Cntfralpha |
| MMRRC Submission |
042925-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5346 (G1)
|
| Quality Score |
151 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
41657498-41697089 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 41675042 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 21
(Y21*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115631
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102961]
[ENSMUST00000102962]
[ENSMUST00000145379]
|
| AlphaFold |
O88507 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000064443
|
| SMART Domains |
Protein: ENSMUSP00000066076
Gene: ENSMUSG00000028444
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
IGc2
|
37 |
96 |
1.87e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000084701
|
| SMART Domains |
Protein: ENSMUSP00000081751
Gene: ENSMUSG00000028444
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
IGc2
|
37 |
96 |
1.87e-12 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000102961
AA Change: Y21*
|
| SMART Domains |
Protein: ENSMUSP00000100026
Gene: ENSMUSG00000028444
AA Change: Y21*
| 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 null
Transcript: ENSMUST00000102962
AA Change: Y21*
|
| SMART Domains |
Protein: ENSMUSP00000100027
Gene: ENSMUSG00000028444
AA Change: Y21*
| 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 null
Transcript: ENSMUST00000145379
AA Change: Y21*
|
| SMART Domains |
Protein: ENSMUSP00000115631
Gene: ENSMUSG00000028444
AA Change: Y21*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Blast:IGc2
|
37 |
60 |
2e-9 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap2 |
T |
A |
5: 62,872,089 (GRCm39) |
Y513F |
probably benign |
Het |
| Cluh |
C |
A |
11: 74,556,044 (GRCm39) |
H832N |
probably damaging |
Het |
| Cog2 |
T |
C |
8: 125,273,370 (GRCm39) |
S570P |
possibly damaging |
Het |
| Cops7b |
A |
G |
1: 86,510,790 (GRCm39) |
|
probably benign |
Het |
| Cpox |
G |
A |
16: 58,495,649 (GRCm39) |
G322D |
probably damaging |
Het |
| Dop1a |
A |
G |
9: 86,402,835 (GRCm39) |
D1345G |
probably damaging |
Het |
| Dqx1 |
G |
A |
6: 83,036,700 (GRCm39) |
D235N |
possibly damaging |
Het |
| Dscaml1 |
A |
G |
9: 45,361,857 (GRCm39) |
I206V |
possibly damaging |
Het |
| Ednra |
T |
C |
8: 78,401,597 (GRCm39) |
Y231C |
probably damaging |
Het |
| Ehhadh |
T |
C |
16: 21,581,540 (GRCm39) |
Y484C |
probably damaging |
Het |
| Fmnl3 |
A |
T |
15: 99,229,871 (GRCm39) |
V150D |
probably damaging |
Het |
| Gabrb2 |
T |
A |
11: 42,312,216 (GRCm39) |
S14T |
probably benign |
Het |
| Gm10608 |
GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,792 (GRCm39) |
|
probably null |
Het |
| Gpatch2 |
T |
C |
1: 186,958,065 (GRCm39) |
L140P |
probably benign |
Het |
| Gsdmc |
A |
G |
15: 63,648,735 (GRCm39) |
Y400H |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,135,415 (GRCm39) |
S239P |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,498,995 (GRCm39) |
I4004N |
probably damaging |
Het |
| Insc |
T |
A |
7: 114,403,776 (GRCm39) |
N63K |
possibly damaging |
Het |
| Mmp28 |
T |
C |
11: 83,333,489 (GRCm39) |
H484R |
probably benign |
Het |
| Nptn |
C |
A |
9: 58,531,070 (GRCm39) |
Y64* |
probably null |
Het |
| Nsd2 |
T |
A |
5: 34,036,480 (GRCm39) |
S655T |
possibly damaging |
Het |
| Nub1 |
A |
G |
5: 24,902,414 (GRCm39) |
E253G |
probably damaging |
Het |
| Or3a1d |
T |
C |
11: 74,237,496 (GRCm39) |
R305G |
probably benign |
Het |
| Pde3b |
T |
A |
7: 114,105,425 (GRCm39) |
H452Q |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,462,321 (GRCm39) |
M2078V |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,593,658 (GRCm39) |
D1485G |
probably damaging |
Het |
| Pkhd1l1 |
A |
C |
15: 44,404,363 (GRCm39) |
T2331P |
probably damaging |
Het |
| Plk5 |
G |
A |
10: 80,198,942 (GRCm39) |
G433E |
probably damaging |
Het |
| Pnliprp2 |
T |
A |
19: 58,748,232 (GRCm39) |
D4E |
probably benign |
Het |
| Prag1 |
A |
G |
8: 36,570,839 (GRCm39) |
D474G |
probably damaging |
Het |
| Psmc1 |
A |
G |
12: 100,086,359 (GRCm39) |
N332S |
probably damaging |
Het |
| Rad9a |
G |
C |
19: 4,251,517 (GRCm39) |
|
probably null |
Het |
| Slf1 |
A |
G |
13: 77,240,490 (GRCm39) |
V396A |
probably benign |
Het |
| Stat6 |
G |
A |
10: 127,488,182 (GRCm39) |
R312K |
probably benign |
Het |
| Tgm1 |
A |
T |
14: 55,948,629 (GRCm39) |
V174E |
probably damaging |
Het |
| Tnc |
A |
G |
4: 63,926,892 (GRCm39) |
V878A |
probably benign |
Het |
| Ube4b |
A |
T |
4: 149,421,881 (GRCm39) |
H969Q |
possibly damaging |
Het |
| Ubr4 |
T |
C |
4: 139,155,802 (GRCm39) |
I2209T |
probably damaging |
Het |
| Ulk2 |
A |
C |
11: 61,725,740 (GRCm39) |
L112R |
probably damaging |
Het |
| Wdr35 |
T |
C |
12: 9,028,684 (GRCm39) |
Y101H |
probably benign |
Het |
| Xpo7 |
A |
G |
14: 70,921,117 (GRCm39) |
L617P |
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 |
|
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 |
|
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'- ATCTGCATGTGACCACCCAG -3'
(R):5'- AGGGACTGAGGTTTCCCAAC -3'
Sequencing Primer
(F):5'- TGCATGTGACCACCCAGATGAG -3'
(R):5'- AGGTTTCCCAACATTCCTGGAGAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation