Mutagenetix > Incidental Mutation

Incidental Mutation 'R6427:Cngb1'

535650

Institutional Source

Beutler Lab

Gene Symbol

Cngb1

Ensembl Gene

ENSMUSG00000031789

Gene Name

cyclic nucleotide gated channel beta 1

Synonyms

Cngb1b, BC016201, Cngb1

MMRRC Submission

044566-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6427 (G1)

Quality Score

200.009

Status

Validated

Chromosome

Chromosomal Location

95965673-96033213 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 96024387 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

E1AZ71

Predicted Effect

probably benign
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 benign
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

unknown
Transcript: ENSMUST00000134207
AA Change: G225R

Predicted Effect

unknown
Transcript: ENSMUST00000156514
AA Change: G224R

Predicted Effect

probably benign
Transcript: ENSMUST00000184103

Predicted Effect

probably benign
Transcript: ENSMUST00000212237

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.1%

Validation Efficiency

93% (39/42)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	C	T	16: 8,420,300 (GRCm39)		probably benign	Het
Ankmy2	A	G	12: 36,237,710 (GRCm39)	S270G	possibly damaging	Het
Anxa2	T	A	9: 69,383,431 (GRCm39)		probably null	Het
Arid1a	G	T	4: 133,408,835 (GRCm39)	P1891T	unknown	Het
Atn1	G	T	6: 124,723,139 (GRCm39)		probably benign	Het
Atp8b3	A	T	10: 80,356,157 (GRCm39)		probably null	Het
Cab39l	A	C	14: 59,743,719 (GRCm39)	K94N	possibly damaging	Het
Cacna2d2	G	T	9: 107,392,641 (GRCm39)	M528I	possibly damaging	Het
Ccnc	T	A	4: 21,747,578 (GRCm39)		probably null	Het
Cfap251	T	C	5: 123,464,596 (GRCm39)	L1268P	probably damaging	Het
Clasp2	C	T	9: 113,721,512 (GRCm39)	T774I	probably damaging	Het
Cpt1a	T	A	19: 3,412,156 (GRCm39)	F209L	probably damaging	Het
Cyp2j7	C	A	4: 96,115,904 (GRCm39)	D181Y	probably damaging	Het
Daam2	C	T	17: 49,776,404 (GRCm39)	E828K	probably damaging	Het
Ddr1	C	A	17: 35,998,114 (GRCm39)	R477L	probably benign	Het
Ech1	A	G	7: 28,525,310 (GRCm39)	T22A	probably benign	Het
Fbln5	T	C	12: 101,728,081 (GRCm39)	D294G	possibly damaging	Het
Fkbp15	T	C	4: 62,241,439 (GRCm39)	I569V	probably benign	Het
Hmcn1	G	T	1: 150,573,227 (GRCm39)	R2141S	possibly damaging	Het
Kat6b	T	C	14: 21,567,480 (GRCm39)	S180P	probably benign	Het
Lepr	G	A	4: 101,631,454 (GRCm39)	E655K	possibly damaging	Het
Mro	T	A	18: 74,005,104 (GRCm39)	L69Q	probably damaging	Het
Nipbl	A	T	15: 8,381,049 (GRCm39)	L581H	probably benign	Het
Nkiras2	C	T	11: 100,515,861 (GRCm39)	R63W	probably damaging	Het
Nlrp4e	T	A	7: 23,020,058 (GRCm39)	S182T	possibly damaging	Het
Obi1	T	C	14: 104,717,662 (GRCm39)	K237R	possibly damaging	Het
Or52b4i	A	T	7: 102,191,895 (GRCm39)	I251F	probably benign	Het
Otud4	T	C	8: 80,395,126 (GRCm39)	S553P	probably benign	Het
Pcdha4	T	C	18: 37,086,786 (GRCm39)	I323T	probably benign	Het
Polr1b	G	T	2: 128,965,181 (GRCm39)	A756S	probably damaging	Het
Prex2	A	T	1: 11,252,255 (GRCm39)	Y1100F	probably damaging	Het
Serpinb6a	A	T	13: 34,102,242 (GRCm39)	S328T	probably damaging	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Stxbp5	T	C	10: 9,774,998 (GRCm39)	T52A	probably damaging	Het
Taf3	A	T	2: 9,956,164 (GRCm39)	F515I	probably damaging	Het
Unc13b	A	G	4: 43,176,966 (GRCm39)		probably benign	Het
Vmn2r106	C	T	17: 20,488,725 (GRCm39)	C558Y	probably damaging	Het
Vps51	T	C	19: 6,120,947 (GRCm39)	Y322C	possibly damaging	Het
Zfp735	G	A	11: 73,581,140 (GRCm39)	C59Y	possibly damaging	Het
Zfp759	A	G	13: 67,287,162 (GRCm39)		probably null	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
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'- ACATATACGTGGAGCTGGTGGG -3'
(R):5'- AGGCTTAGACTCTAGTGGGC -3'

Sequencing Primer
(F):5'- CATGATGGCTGGTACCCACTTTAAG -3'
(R):5'- CAGTCAAGGTAGCTCTTATTTCAGGC -3'

Posted On

2018-09-24