Mutagenetix > Incidental Mutation

Incidental Mutation 'R6275:Cntfr'

507566

Institutional Source

Beutler Lab

Gene Symbol

Cntfr

Ensembl Gene

ENSMUSG00000028444

Gene Name

ciliary neurotrophic factor receptor

Synonyms

Cntfralpha

MMRRC Submission

044445-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6275 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41657498-41697089 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41663216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 197 (D197G)

Ref Sequence

ENSEMBL: ENSMUSP00000100027 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102961] [ENSMUST00000102962]

AlphaFold

O88507

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102961
AA Change: D197G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000100026
Gene: ENSMUSG00000028444
AA Change: D197G

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

possibly damaging
Transcript: ENSMUST00000102962
AA Change: D197G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000100027
Gene: ENSMUSG00000028444
AA Change: D197G

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: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.4%

Validation Efficiency

98% (56/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,833,625 (GRCm39)	L30H	probably damaging	Het
Abcb6	T	C	1: 75,149,195 (GRCm39)		probably null	Het
Acsbg1	T	A	9: 54,517,056 (GRCm39)	M586L	probably benign	Het
Ano6	A	T	15: 95,811,314 (GRCm39)	Y159F	probably damaging	Het
C1ql1	A	G	11: 102,830,575 (GRCm39)	I254T	probably damaging	Het
Ccdc81	T	C	7: 89,531,519 (GRCm39)	D318G	possibly damaging	Het
Ccr7	C	T	11: 99,036,489 (GRCm39)	M144I	probably damaging	Het
Cdca3	C	T	6: 124,809,627 (GRCm39)		probably null	Het
Ces1h	A	T	8: 94,099,274 (GRCm39)	L93I	probably benign	Het
Cyp2d12	C	A	15: 82,440,859 (GRCm39)	P126T	probably benign	Het
Dnah10	A	G	5: 124,862,248 (GRCm39)	T2225A	probably damaging	Het
Edrf1	A	T	7: 133,269,311 (GRCm39)	N1147Y	possibly damaging	Het
Eif1ad15	T	C	12: 88,287,995 (GRCm39)	D86G	possibly damaging	Het
Eif1ad16	T	C	12: 87,985,255 (GRCm39)	N96S	probably benign	Het
Ermap	C	T	4: 119,035,747 (GRCm39)	V414M	probably damaging	Het
Fam13a	A	G	6: 58,931,242 (GRCm39)	I446T	probably damaging	Het
Fgfbp3	T	C	19: 36,896,153 (GRCm39)	H155R	possibly damaging	Het
Folr1	T	A	7: 101,508,742 (GRCm39)	N61I	probably damaging	Het
Fsip1	T	C	2: 118,035,583 (GRCm39)	I431V	probably benign	Het
Gm5493	A	T	17: 22,969,043 (GRCm39)	E74D	probably benign	Het
H2-Oa	A	G	17: 34,313,540 (GRCm39)	D197G	probably benign	Het
Hps1	T	C	19: 42,758,046 (GRCm39)	E169G	probably null	Het
Il17rc	A	T	6: 113,457,308 (GRCm39)	M372L	probably benign	Het
Itga10	A	G	3: 96,565,501 (GRCm39)	S1042G	probably benign	Het
Jchain	A	T	5: 88,669,212 (GRCm39)	V147E	probably damaging	Het
Laptm4b	A	G	15: 34,283,473 (GRCm39)	T211A	probably benign	Het
Mal2	T	C	15: 54,435,035 (GRCm39)		probably null	Het
Mov10l1	T	A	15: 88,910,823 (GRCm39)	I1071N	probably damaging	Het
Mpp2	T	A	11: 101,951,795 (GRCm39)	Y401F	probably damaging	Het
Myh15	A	G	16: 48,965,610 (GRCm39)	T1172A	probably benign	Het
Or51q1	T	A	7: 103,629,181 (GRCm39)	S261T	probably damaging	Het
Pcnx1	G	T	12: 81,965,381 (GRCm39)	S516I	probably benign	Het
Pidd1	C	T	7: 141,019,708 (GRCm39)	A685T	probably damaging	Het
Psg28	A	C	7: 18,164,365 (GRCm39)	Y116D	probably damaging	Het
Psmd11	T	C	11: 80,329,458 (GRCm39)		probably benign	Het
Rapgefl1	T	A	11: 98,741,946 (GRCm39)	Y637N	probably damaging	Het
Rbm25	T	A	12: 83,691,206 (GRCm39)	M66K	probably damaging	Het
Rnf38	T	A	4: 44,152,408 (GRCm39)	H52L	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGTGGCGGCGG	7: 97,229,130 (GRCm39)		probably benign	Het
Sec62	A	G	3: 30,863,985 (GRCm39)	Q89R	probably damaging	Het
Serpina6	T	A	12: 103,614,979 (GRCm39)	Q289L	probably benign	Het
Sf3b2	A	C	19: 5,333,678 (GRCm39)	I640S	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc26a11	T	C	11: 119,250,125 (GRCm39)	F127L	probably benign	Het
Spata31h1	T	C	10: 82,121,202 (GRCm39)	D3936G	probably damaging	Het
Stac3	T	A	10: 127,343,615 (GRCm39)	Y252*	probably null	Het
Stoml3	G	A	3: 53,414,927 (GRCm39)	A240T	probably damaging	Het
Tanc1	A	T	2: 59,673,854 (GRCm39)	H1653L	probably benign	Het
Tll1	A	T	8: 64,504,401 (GRCm39)	L665*	probably null	Het
Tnr	A	C	1: 159,688,840 (GRCm39)	Q434P	probably damaging	Het
Tpgs1	C	A	10: 79,511,354 (GRCm39)	D165E	probably benign	Het
Tsc2	A	G	17: 24,819,394 (GRCm39)	V1185A	probably benign	Het
Tulp4	A	G	17: 6,249,011 (GRCm39)	H203R	probably damaging	Het
Txnl4a	T	A	18: 80,261,980 (GRCm39)	M72K	possibly damaging	Het
Usp42	G	A	5: 143,700,727 (GRCm39)	R1099W	probably damaging	Het
Zfp292	G	A	4: 34,808,883 (GRCm39)	A1387V	possibly damaging	Het
Zfp994	A	T	17: 22,418,972 (GRCm39)	L659*	probably null	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
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
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'- GCATGTTCTCTGAGCCAAAGAG -3'
(R):5'- TAACAGTACCTGGGCCTCATTC -3'

Sequencing Primer
(F):5'- GTAAAGGATAGCTGCTTATATGGTCC -3'
(R):5'- GGGCCTCATTCCTTTCCAGG -3'

Posted On

2018-03-15