Mutagenetix > Incidental Mutation

Incidental Mutation 'R8286:Cngb1'

638461

Institutional Source

Beutler Lab

Gene Symbol

Cngb1

Ensembl Gene

ENSMUSG00000031789

Gene Name

cyclic nucleotide gated channel beta 1

Synonyms

Cngb1b, BC016201, Cngb1

MMRRC Submission

067708-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8286 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95965673-96033213 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 96002252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 52 (V52D)

Ref Sequence

ENSEMBL: ENSMUSP00000113750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119870] [ENSMUST00000120044] [ENSMUST00000121162]

AlphaFold

E1AZ71

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

SMART Domains

Protein: ENSMUSP00000113750
Gene: ENSMUSG00000031789
AA Change: V52D

Domain	Start	End	E-Value	Type
low complexity region	20	46	N/A	INTRINSIC
transmembrane domain	79	101	N/A	INTRINSIC
transmembrane domain	114	136	N/A	INTRINSIC
low complexity region	169	182	N/A	INTRINSIC
cNMP	389	508	4e-25	SMART
low complexity region	555	596	N/A	INTRINSIC
low complexity region	599	636	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000112437
Gene: ENSMUSG00000031789
AA Change: V52D

Domain	Start	End	E-Value	Type
low complexity region	20	46	N/A	INTRINSIC
transmembrane domain	79	101	N/A	INTRINSIC
transmembrane domain	114	136	N/A	INTRINSIC
low complexity region	169	182	N/A	INTRINSIC
cNMP	389	508	4e-25	SMART
low complexity region	555	596	N/A	INTRINSIC
low complexity region	599	636	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (42/42)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	T	5: 8,914,119 (GRCm39)	Y1163F	probably damaging	Het
Abcd4	A	G	12: 84,649,920 (GRCm39)	V589A	probably benign	Het
Adam26b	T	A	8: 43,972,998 (GRCm39)	N668I	probably benign	Het
Atp2b2	T	C	6: 113,819,275 (GRCm39)	N6S	possibly damaging	Het
Cacna2d2	A	G	9: 107,392,063 (GRCm39)	Y468C	probably damaging	Het
Cped1	A	T	6: 22,254,601 (GRCm39)	Y998F	probably benign	Het
Csmd1	A	G	8: 16,039,188 (GRCm39)	V2390A	probably benign	Het
Ctsj	A	T	13: 61,148,330 (GRCm39)	C321*	probably null	Het
Dip2a	A	C	10: 76,122,297 (GRCm39)	I139S	probably benign	Het
Dnaaf9	T	C	2: 130,559,248 (GRCm39)	I937V	probably damaging	Het
Eif1	A	G	11: 100,210,795 (GRCm39)		probably benign	Het
Exoc1	T	C	5: 76,711,087 (GRCm39)	I662T	probably benign	Het
Flt4	A	G	11: 49,528,089 (GRCm39)	R971G	probably benign	Het
Hecw2	T	C	1: 53,879,928 (GRCm39)	T1294A	probably damaging	Het
Herc2	T	G	7: 55,879,410 (GRCm39)	V4676G	possibly damaging	Het
Hif1a	A	G	12: 73,992,022 (GRCm39)		probably benign	Het
Icam5	C	A	9: 20,946,822 (GRCm39)	A450E	possibly damaging	Het
Map3k21	T	A	8: 126,637,498 (GRCm39)	M28K	probably benign	Het
Mars1	C	A	10: 127,141,348 (GRCm39)	R347L	probably benign	Het
Mctp1	A	T	13: 76,905,174 (GRCm39)	I426F	probably benign	Het
Mdn1	T	C	4: 32,731,960 (GRCm39)	S3007P	possibly damaging	Het
Mical3	T	C	6: 120,998,149 (GRCm39)	R65G	possibly damaging	Het
Ncald	G	T	15: 37,397,505 (GRCm39)	Y58*	probably null	Het
Neil2	A	T	14: 63,426,154 (GRCm39)	I72K	probably benign	Het
Or8b35	C	A	9: 37,904,401 (GRCm39)	Y204*	probably null	Het
Or8k23	A	G	2: 86,186,691 (GRCm39)	F12L	probably damaging	Het
Pan2	A	G	10: 128,154,189 (GRCm39)	D1086G	probably damaging	Het
Plxnb1	A	G	9: 108,935,870 (GRCm39)	T1087A	probably damaging	Het
Prpf39	A	G	12: 65,103,132 (GRCm39)	M469V	probably benign	Het
Ptprk	A	T	10: 28,444,323 (GRCm39)	S905C	probably damaging	Het
Rassf5	T	C	1: 131,140,067 (GRCm39)	D164G	possibly damaging	Het
Setd1a	T	C	7: 127,385,356 (GRCm39)	W688R	possibly damaging	Het
Sfswap	C	T	5: 129,616,783 (GRCm39)	T409I	probably damaging	Het
Slc50a1	G	A	3: 89,177,710 (GRCm39)		probably null	Het
Slfn9	G	C	11: 82,872,095 (GRCm39)	N880K	probably damaging	Het
Sprr1b	T	C	3: 92,344,720 (GRCm39)	K52R	probably benign	Het
Tfb2m	T	C	1: 179,356,770 (GRCm39)	D388G	probably damaging	Het
Tmem234	T	C	4: 129,500,881 (GRCm39)		probably benign	Het
Traj43	A	G	14: 54,412,201 (GRCm39)	N1D		Het
Trmt1l	T	A	1: 151,333,543 (GRCm39)	I682N	probably damaging	Het
Trp53rka	T	C	2: 165,333,445 (GRCm39)	D148G	probably damaging	Het
Vmn2r86	A	G	10: 130,285,855 (GRCm39)	V440A	probably benign	Het
Vxn	C	T	1: 9,683,613 (GRCm39)	T67I	probably benign	Het
Wdfy3	C	T	5: 102,085,287 (GRCm39)	V736I	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
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'- CATGAGTACAAAGCACGTTCCC -3'
(R):5'- TCAGCTCCTGATTATAGTCTCCAG -3'

Sequencing Primer
(F):5'- GCACGTTCCCACAGCATG -3'
(R):5'- GATTATAGTCTCCAGGATCACGC -3'

Posted On

2020-07-28