Mutagenetix > Incidental Mutation

Incidental Mutation 'R1073:Cngb1'

85531

Institutional Source

Beutler Lab

Gene Symbol

Cngb1

Ensembl Gene

ENSMUSG00000031789

Gene Name

cyclic nucleotide gated channel beta 1

Synonyms

Cngb1b, BC016201, Cngb1

MMRRC Submission

039159-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1073 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95965673-96033213 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 96030195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113827 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093268] [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: 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 benign
Transcript: ENSMUST00000133716

Predicted Effect

probably benign
Transcript: ENSMUST00000134207

Predicted Effect

probably benign
Transcript: ENSMUST00000156514

Predicted Effect

probably benign
Transcript: ENSMUST00000212237

Meta Mutation Damage Score

0.8346

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.5%
20x: 94.5%

Validation Efficiency

98% (40/41)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asap3	T	C	4: 135,963,742 (GRCm39)	I334T	probably damaging	Het
Atxn7l3	C	G	11: 102,183,261 (GRCm39)		probably benign	Het
Cacna2d3	T	A	14: 28,767,580 (GRCm39)	H765L	probably damaging	Het
Csmd1	C	T	8: 16,408,477 (GRCm39)		probably benign	Het
Cux1	A	T	5: 136,281,395 (GRCm39)		probably null	Het
D7Ertd443e	T	C	7: 133,871,947 (GRCm39)	K232R	probably damaging	Het
Dock6	A	G	9: 21,757,814 (GRCm39)	S97P	probably benign	Het
Eml5	G	A	12: 98,797,232 (GRCm39)	A1099V	probably damaging	Het
Gtf2h1	G	A	7: 46,466,368 (GRCm39)	A472T	probably damaging	Het
Krt82	T	A	15: 101,458,689 (GRCm39)	D117V	probably damaging	Het
Lrfn5	A	G	12: 61,887,595 (GRCm39)	Y461C	probably damaging	Het
Mmrn2	G	A	14: 34,118,251 (GRCm39)		probably null	Het
Mrtfb	T	A	16: 13,230,182 (GRCm39)	S956T	possibly damaging	Het
Msrb3	T	A	10: 120,620,041 (GRCm39)	S93C	possibly damaging	Het
Ncl	AAAGCCTCCC	AAAGCCTCCCAAGCCTCCC	1: 86,278,538 (GRCm39)		probably benign	Het
Or8k41	A	G	2: 86,313,984 (GRCm39)	I34T	probably damaging	Het
Osbpl10	C	T	9: 115,036,621 (GRCm39)	Q381*	probably null	Het
Pelp1	A	G	11: 70,287,416 (GRCm39)	L464P	probably damaging	Het
Pigs	A	G	11: 78,226,431 (GRCm39)	D216G	probably benign	Het
Ptprk	T	C	10: 28,372,943 (GRCm39)		probably null	Het
Pyroxd1	T	C	6: 142,294,370 (GRCm39)		probably null	Het
Ros1	T	A	10: 51,922,221 (GRCm39)	D2284V	probably damaging	Het
Rptor	T	C	11: 119,634,717 (GRCm39)	S178P	possibly damaging	Het
Slc8a1	C	T	17: 81,955,836 (GRCm39)	D401N	probably damaging	Het
Tas2r143	T	C	6: 42,377,694 (GRCm39)	Y175H	probably benign	Het
Tdrd9	T	C	12: 111,989,693 (GRCm39)	S502P	probably damaging	Het
Tmem38a	A	G	8: 73,333,947 (GRCm39)	H142R	probably damaging	Het
Tmem44	A	G	16: 30,333,651 (GRCm39)		probably benign	Het
Ugt2b38	T	G	5: 87,560,232 (GRCm39)	N361H	probably damaging	Het
Umod	A	G	7: 119,063,964 (GRCm39)	V614A	possibly damaging	Het
Vmn2r5	A	T	3: 64,398,726 (GRCm39)	L751*	probably null	Het
Wdr37	A	T	13: 8,855,876 (GRCm39)	I489N	probably damaging	Het
Xdh	T	C	17: 74,246,831 (GRCm39)	T78A	probably benign	Het
Zfp866	A	T	8: 70,220,272 (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
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
RF053:Cngb1	UTSW	8	96,030,276 (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'- GAGAGATGGTGACAAAGTCTGCCTC -3'
(R):5'- GATGCCTGCGCTCATTCAGTTAAAG -3'

Sequencing Primer
(F):5'- TTTCACAGAAACAGccttgagc -3'
(R):5'- CTGCGCTCATTCAGTTAAAGACTATG -3'

Posted On

2013-11-18