Mutagenetix > Incidental Mutation

Incidental Mutation 'RF053:Cngb1'

605183

Institutional Source

Beutler Lab

Gene Symbol

Cngb1

Ensembl Gene

ENSMUSG00000031789

Gene Name

cyclic nucleotide gated channel beta 1

Synonyms

Cngb1b, BC016201, Cngb1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

RF053 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

95965673-96033213 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

GGCTCTGGCTCTGGCTCTGGCTCTG to GG at 96030276 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113827 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093268] [ENSMUST00000119870] [ENSMUST00000133716] [ENSMUST00000134207] [ENSMUST00000156514]

AlphaFold

E1AZ71

Predicted Effect

probably null
Transcript: ENSMUST00000093268

SMART Domains

Protein: ENSMUSP00000090956
Gene: ENSMUSG00000031789

Domain	Start	End	E-Value	Type
low complexity region	33	103	N/A	INTRINSIC
low complexity region	248	267	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000119870

SMART Domains

Protein: ENSMUSP00000113827
Gene: ENSMUSG00000031789

Domain	Start	End	E-Value	Type
low complexity region	20	46	N/A	INTRINSIC
Pfam:Ion_trans	83	315	9.8e-17	PFAM
cNMP	389	508	4.1e-25	SMART
low complexity region	555	596	N/A	INTRINSIC
low complexity region	599	636	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000133716

Predicted Effect

probably null
Transcript: ENSMUST00000134207

Predicted Effect

probably null
Transcript: ENSMUST00000156514

Predicted Effect

probably benign
Transcript: ENSMUST00000212237

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.6%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice display postnatal lethality, reduced body size and weight, and retinal rod degeneration followed by cone degeneration. Mice homozygous for an allele lacking the calmodulin-binding domain exhibit defective olfactory neural signaling. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
A030005L19Rik	TGGCTGCTG	TGGCTGCTGGGGCTGCTG	1: 82,891,294 (GRCm39)	probably benign	Het
Abra	TGGC	T	15: 41,729,695 (GRCm39)	probably benign	Het
Blm	CTCCTCCTCCTC	CTCCTCCTCCTCATCCTCCTCCTC	7: 80,162,669 (GRCm39)	probably benign	Het
Bmp5	TGAGGAG	T	9: 75,683,656 (GRCm39)	probably benign	Het
Cyb5r4	GGATGTGACAGACACACTGCCCAG	GGATGTGACAGACACACTGCCCAGCGATGTGACAGACACACTGCCCAG	9: 86,922,475 (GRCm39)	probably benign	Het
Ehbp1l1	TCACACCACC	T	19: 5,766,030 (GRCm39)	probably benign	Het
Kdm3a	TTTTT	TTTTTT	6: 71,609,033 (GRCm39)	probably benign	Het
Krtap28-10	CAGCCACCACAGC	CAGCCACCACAGCCAAAGCCACCACAGC	1: 83,019,999 (GRCm39)	probably benign	Het
Mamld1	CA	CAGAA	X: 70,162,458 (GRCm39)	probably benign	Het
Map1a	CTCCAGCTCCAGCTCCAGCTCCAGCTCCA	CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGATCCAGCTCCAGCTCCAGCTCCAGCTCCA	2: 121,136,771 (GRCm39)	probably benign	Het
Med12l	CAG	CAGAAG	3: 59,183,414 (GRCm39)	probably benign	Het
Nefh	GACTTGGCCTCACCT	GACTTGGCCTCACCTCACCACTTGGCCTCACCT	11: 4,891,014 (GRCm39)	probably null	Het
Polr1has	CACCAC	CACCACCACCACCACCACCTCTACCAC	17: 37,275,958 (GRCm39)	probably benign	Het
Rap1gds1	TCATTTATTATGACCATAC	TC	3: 138,647,418 (GRCm39)	probably null	Het
Tcof1	C	CAGA	18: 60,968,819 (GRCm39)	probably benign	Het
Tfeb	AGC	AGCCGC	17: 48,097,039 (GRCm39)	probably benign	Het
Trappc9	TGCT	TGCTGCTGCTGCTGCGGCT	15: 72,673,177 (GRCm39)	probably benign	Het
Usp2	C	CTCATGTGACCTGTTCTTCACTTAA	9: 44,000,426 (GRCm39)	probably benign	Het
Zfp598	CCCACCACCACAACCACCACCACCACCACCAC	CCCACCACCACCACCACAACCACCACCACCACCACCAC	17: 24,899,735 (GRCm39)	probably benign	Het
Zfp69	GTGCCAGGGGTCTCTCCATCATGGGATCCTGCTGCAGGGATGCCAGGGGTCTCTCCATCATGGGATCCTGCTGCAGGGGTGCCAGGGGTCGCTTCATCATGGGATCCTGTTGCAGTGGTGCCAGGGGTCGCTCCATCATGGGATCCTGCTGCAGGGGTGCCAGGGGTC	GTGCCAGGGGTCTCTCCATCATGGGATCCTGCTGCAGGGGTGCCAGGGGTCGCTTCATCATGGGATCCTGTTGCAGTGGTGCCAGGGGTCGCTCCATCATGGGATCCTGCTGCAGGGGTGCCAGGGGTC	4: 120,804,544 (GRCm39)	probably benign	Het

Other mutations in Cngb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Cngb1	APN	8	95,968,812 (GRCm39)	splice site	probably benign
IGL01575:Cngb1	APN	8	95,991,148 (GRCm39)	missense	possibly damaging	0.51
IGL02329:Cngb1	APN	8	95,968,987 (GRCm39)	missense	probably benign	0.14
IGL03332:Cngb1	APN	8	96,025,474 (GRCm39)	splice site	probably benign
IGL03391:Cngb1	APN	8	96,030,333 (GRCm39)	unclassified	probably benign
stevie	UTSW	8	95,986,758 (GRCm39)	missense	probably damaging	1.00
swannie	UTSW	8	96,023,756 (GRCm39)	critical splice acceptor site	probably null
R0078:Cngb1	UTSW	8	95,991,173 (GRCm39)	critical splice acceptor site	probably null
R0116:Cngb1	UTSW	8	95,987,266 (GRCm39)	missense	probably damaging	1.00
R1073:Cngb1	UTSW	8	96,030,195 (GRCm39)	critical splice donor site	probably null
R1166:Cngb1	UTSW	8	95,986,809 (GRCm39)	missense	probably damaging	0.99
R1714:Cngb1	UTSW	8	95,984,559 (GRCm39)	missense	probably damaging	1.00
R1753:Cngb1	UTSW	8	96,024,401 (GRCm39)	critical splice donor site	probably benign
R1760:Cngb1	UTSW	8	96,026,328 (GRCm39)	missense	probably benign	0.03
R1833:Cngb1	UTSW	8	95,968,983 (GRCm39)	missense	probably damaging	1.00
R1935:Cngb1	UTSW	8	96,026,320 (GRCm39)	missense	probably damaging	1.00
R1939:Cngb1	UTSW	8	96,026,320 (GRCm39)	missense	probably damaging	1.00
R1940:Cngb1	UTSW	8	96,026,320 (GRCm39)	missense	probably damaging	1.00
R2045:Cngb1	UTSW	8	96,023,713 (GRCm39)	splice site	probably null
R2379:Cngb1	UTSW	8	95,986,758 (GRCm39)	missense	probably damaging	1.00
R2940:Cngb1	UTSW	8	95,978,735 (GRCm39)	missense	probably benign	0.44
R4034:Cngb1	UTSW	8	95,991,078 (GRCm39)	missense	possibly damaging	0.47
R4058:Cngb1	UTSW	8	95,994,282 (GRCm39)	missense	probably benign	0.00
R4425:Cngb1	UTSW	8	96,026,344 (GRCm39)	missense	probably damaging	1.00
R4585:Cngb1	UTSW	8	96,023,756 (GRCm39)	critical splice acceptor site	probably null
R4591:Cngb1	UTSW	8	95,980,012 (GRCm39)	missense	probably damaging	1.00
R4638:Cngb1	UTSW	8	95,992,647 (GRCm39)	missense	probably damaging	1.00
R4906:Cngb1	UTSW	8	95,978,601 (GRCm39)	missense	probably damaging	0.96
R4950:Cngb1	UTSW	8	95,975,135 (GRCm39)	missense	probably damaging	1.00
R4979:Cngb1	UTSW	8	95,985,785 (GRCm39)	missense	probably damaging	0.99
R5148:Cngb1	UTSW	8	95,992,611 (GRCm39)	missense	probably benign	0.28
R5474:Cngb1	UTSW	8	95,978,597 (GRCm39)	missense	probably damaging	1.00
R5475:Cngb1	UTSW	8	95,978,597 (GRCm39)	missense	probably damaging	1.00
R5545:Cngb1	UTSW	8	95,978,801 (GRCm39)	missense
R5585:Cngb1	UTSW	8	95,989,767 (GRCm39)	missense	probably damaging	1.00
R5637:Cngb1	UTSW	8	95,984,549 (GRCm39)	missense	probably damaging	1.00
R5785:Cngb1	UTSW	8	95,980,823 (GRCm39)	missense	possibly damaging	0.90
R5967:Cngb1	UTSW	8	95,978,534 (GRCm39)	missense	probably damaging	1.00
R6013:Cngb1	UTSW	8	96,010,949 (GRCm39)	unclassified	probably benign
R6049:Cngb1	UTSW	8	95,997,470 (GRCm39)	missense	probably damaging	0.99
R6370:Cngb1	UTSW	8	95,991,050 (GRCm39)	missense	probably benign	0.33
R6377:Cngb1	UTSW	8	95,975,608 (GRCm39)	missense	probably damaging	1.00
R6401:Cngb1	UTSW	8	96,030,367 (GRCm39)	unclassified	probably benign
R6427:Cngb1	UTSW	8	96,024,387 (GRCm39)	intron	probably benign
R6492:Cngb1	UTSW	8	95,991,052 (GRCm39)	missense	probably benign	0.01
R6613:Cngb1	UTSW	8	95,992,638 (GRCm39)	missense	possibly damaging	0.95
R6721:Cngb1	UTSW	8	95,997,516 (GRCm39)	missense	probably benign	0.05
R6919:Cngb1	UTSW	8	95,975,003 (GRCm39)	missense	probably null	1.00
R7012:Cngb1	UTSW	8	95,984,583 (GRCm39)	missense	possibly damaging	0.83
R7418:Cngb1	UTSW	8	96,004,887 (GRCm39)	nonsense	probably null
R7464:Cngb1	UTSW	8	95,980,811 (GRCm39)	missense	possibly damaging	0.92
R7806:Cngb1	UTSW	8	96,025,432 (GRCm39)	critical splice donor site	probably null
R8048:Cngb1	UTSW	8	95,989,838 (GRCm39)	missense	possibly damaging	0.90
R8074:Cngb1	UTSW	8	95,978,801 (GRCm39)	missense
R8189:Cngb1	UTSW	8	96,030,248 (GRCm39)	unclassified	probably benign
R8245:Cngb1	UTSW	8	96,024,408 (GRCm39)	missense	unknown
R8286:Cngb1	UTSW	8	96,002,252 (GRCm39)	missense
R8819:Cngb1	UTSW	8	95,980,037 (GRCm39)	critical splice acceptor site	probably null
R8906:Cngb1	UTSW	8	95,989,736 (GRCm39)	missense	probably damaging	1.00
R8979:Cngb1	UTSW	8	96,004,913 (GRCm39)	start gained	probably benign
R9075:Cngb1	UTSW	8	95,979,993 (GRCm39)	missense	probably damaging	1.00
R9131:Cngb1	UTSW	8	95,979,893 (GRCm39)	missense	probably benign	0.02
R9311:Cngb1	UTSW	8	96,010,794 (GRCm39)	critical splice donor site	probably null
R9375:Cngb1	UTSW	8	96,026,350 (GRCm39)	missense	unknown
R9745:Cngb1	UTSW	8	95,967,919 (GRCm39)	missense	unknown
R9773:Cngb1	UTSW	8	95,975,042 (GRCm39)	missense	probably damaging	1.00
RF010:Cngb1	UTSW	8	96,030,278 (GRCm39)	frame shift	probably null
T0722:Cngb1	UTSW	8	96,024,447 (GRCm39)	missense	probably damaging	0.99
T0722:Cngb1	UTSW	8	96,023,278 (GRCm39)	missense	probably benign	0.02
T0722:Cngb1	UTSW	8	96,030,342 (GRCm39)	unclassified	probably benign
T0722:Cngb1	UTSW	8	96,030,324 (GRCm39)	unclassified	probably benign
Z1177:Cngb1	UTSW	8	95,978,764 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTGACCACATTTCCCACTG -3'
(R):5'- AAGACTATGTTGCTTACAGGTGTC -3'

Sequencing Primer
(F):5'- ACATTTCCCACTGGCCCC -3'
(R):5'- TGCTTACAGGTGTCAGGATG -3'

Posted On

2019-12-04