Mutagenetix > Incidental Mutation

Incidental Mutation 'R6721:Cngb1'

529591

Institutional Source

Beutler Lab

Gene Symbol

Cngb1

Ensembl Gene

ENSMUSG00000031789

Gene Name

cyclic nucleotide gated channel beta 1

Synonyms

Cngb1b, BC016201, Cngb1

MMRRC Submission

044839-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6721 (G1)

Quality Score

214.009

Status

Validated

Chromosome

Chromosomal Location

95965673-96033213 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95997516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 560 (T560A)

Ref Sequence

ENSEMBL: ENSMUSP00000113827 (fasta)

Gene Model

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

AlphaFold

E1AZ71

Predicted Effect

probably benign
Transcript: ENSMUST00000119870
AA Change: T560A

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000113827
Gene: ENSMUSG00000031789
AA Change: T560A

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: ENSMUST00000120044
AA Change: T101A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113750
Gene: ENSMUSG00000031789
AA Change: T101A

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

probably benign
Transcript: ENSMUST00000121162
AA Change: T101A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112437
Gene: ENSMUSG00000031789
AA Change: T101A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

100% (44/44)

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
Adgrv1	A	G	13: 81,629,634 (GRCm39)	L3588S	probably benign	Het
Ankrd27	T	C	7: 35,311,976 (GRCm39)	F402S	probably damaging	Het
Aplp1	T	C	7: 30,139,720 (GRCm39)	Q359R	probably null	Het
Arhgef10l	T	C	4: 140,297,655 (GRCm39)	Y546C	probably damaging	Het
Bltp2	T	C	11: 78,170,625 (GRCm39)	Y1615H	probably damaging	Het
Cd46	T	C	1: 194,765,939 (GRCm39)	Y142C	probably damaging	Het
Cfap418	A	G	4: 10,874,744 (GRCm39)	N44D	probably benign	Het
Chd3	T	C	11: 69,260,045 (GRCm39)		probably benign	Het
Cmtm2b	A	G	8: 105,049,077 (GRCm39)	S31G	possibly damaging	Het
CN725425	A	G	15: 91,115,821 (GRCm39)	K21R	possibly damaging	Het
Creb3l3	T	C	10: 80,926,977 (GRCm39)	D151G	probably damaging	Het
Cts7	A	T	13: 61,504,108 (GRCm39)	V124E	probably damaging	Het
Ctsd	G	A	7: 141,930,590 (GRCm39)	P349S	possibly damaging	Het
Ern1	A	G	11: 106,302,478 (GRCm39)	W459R	probably damaging	Het
Faxc	A	T	4: 21,982,672 (GRCm39)		probably null	Het
Gabbr1	T	C	17: 37,365,084 (GRCm39)	I239T	probably damaging	Het
Galnt12	T	A	4: 47,122,529 (GRCm39)	C269*	probably null	Het
Gmpr2	A	T	14: 55,910,191 (GRCm39)	D7V	probably damaging	Het
Hivep3	T	A	4: 119,952,296 (GRCm39)	I204N	possibly damaging	Het
Il16	A	T	7: 83,312,270 (GRCm39)		probably null	Het
Jag1	T	C	2: 136,936,394 (GRCm39)	T367A	probably benign	Het
Lefty2	T	C	1: 180,722,166 (GRCm39)	V168A	probably damaging	Het
Mecom	T	C	3: 30,034,023 (GRCm39)	E227G	probably damaging	Het
Muc5ac	T	A	7: 141,352,729 (GRCm39)	C739S	possibly damaging	Het
Npy1r	T	A	8: 67,156,941 (GRCm39)	C120*	probably null	Het
Nup153	A	G	13: 46,854,502 (GRCm39)	V530A	probably damaging	Het
Ogfr	T	A	2: 180,237,221 (GRCm39)	L602Q	possibly damaging	Het
Or10g7	C	T	9: 39,905,603 (GRCm39)	P166S	possibly damaging	Het
Or10h5	C	T	17: 33,434,508 (GRCm39)	G270E	probably benign	Het
Or7e178	A	C	9: 20,225,576 (GRCm39)	D213E	probably benign	Het
Perm1	G	T	4: 156,302,776 (GRCm39)	R440L	probably benign	Het
Plcb4	T	C	2: 135,752,157 (GRCm39)	V121A	probably benign	Het
Plxna4	C	T	6: 32,177,794 (GRCm39)	V1036M	probably benign	Het
Ppl	A	T	16: 4,925,333 (GRCm39)	M102K	probably damaging	Het
Prop1	T	C	11: 50,844,213 (GRCm39)	S7G	probably benign	Het
Rabggta	A	G	14: 55,954,660 (GRCm39)	L507P	probably damaging	Het
Sfmbt2	A	G	2: 10,547,836 (GRCm39)	T473A	probably damaging	Het
Spc25	A	C	2: 69,027,517 (GRCm39)	M125R	possibly damaging	Het
Taok3	T	C	5: 117,393,928 (GRCm39)	M567T	probably benign	Het
Tlr3	A	G	8: 45,851,917 (GRCm39)	Y327H	probably benign	Het
Tmem209	A	G	6: 30,497,174 (GRCm39)	F339L	probably benign	Het
U2surp	T	C	9: 95,373,157 (GRCm39)	N279S	probably damaging	Het
Ythdf3	G	A	3: 16,258,025 (GRCm39)	M61I	possibly damaging	Het
Zfp647	T	C	15: 76,796,076 (GRCm39)	I195V	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
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'- CTTGCAGCTGAGACTGCTTC -3'
(R):5'- TTCAGGCTGCATGGAGCTTG -3'

Sequencing Primer
(F):5'- AGGAGATCTGAGTCCTGCTAC -3'
(R):5'- CTGCATGGAGCTTGGCTGG -3'

Posted On

2018-08-01