Mutagenetix > Incidental Mutation

Incidental Mutation 'R5148:Cngb1'

395204

Institutional Source

Beutler Lab

Gene Symbol

Cngb1

Ensembl Gene

ENSMUSG00000031789

Gene Name

cyclic nucleotide gated channel beta 1

Synonyms

Cngb1b, BC016201, Cngb1

MMRRC Submission

043262-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5148 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95965673-96033213 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95992611 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 667 (V667A)

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: V667A

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113827
Gene: ENSMUSG00000031789
AA Change: V667A

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: V208A

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113750
Gene: ENSMUSG00000031789
AA Change: V208A

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: V208A

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000112437
Gene: ENSMUSG00000031789
AA Change: V208A

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

0.0612

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (48/48)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank2	A	T	3: 126,819,285 (GRCm39)		probably null	Het
Atf7	A	G	15: 102,455,608 (GRCm39)	M252T	probably benign	Het
Cacna1h	C	A	17: 25,606,519 (GRCm39)	D1027Y	probably damaging	Het
Cntf	T	C	19: 12,741,368 (GRCm39)	E164G	probably damaging	Het
Dbt	T	C	3: 116,321,893 (GRCm39)		probably benign	Het
Egfem1	G	A	3: 29,511,972 (GRCm39)		probably benign	Het
Gm12790	C	T	4: 101,825,268 (GRCm39)	V49I	possibly damaging	Het
Gm5444	C	T	13: 4,884,314 (GRCm39)		noncoding transcript	Het
Gpcpd1	A	T	2: 132,376,110 (GRCm39)	Y574*	probably null	Het
Gss	G	T	2: 155,415,029 (GRCm39)	N225K	possibly damaging	Het
Il17rc	G	T	6: 113,459,958 (GRCm39)	A635S	probably benign	Het
Lhfpl5	T	A	17: 28,798,942 (GRCm39)	D150E	probably damaging	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Lrrc40	T	G	3: 157,760,206 (GRCm39)		probably null	Het
Ly6f	A	G	15: 75,143,646 (GRCm39)	T118A	probably benign	Het
Malrd1	A	G	2: 16,147,037 (GRCm39)	N1960D	unknown	Het
Map3k14	T	C	11: 103,130,158 (GRCm39)	H253R	probably benign	Het
Morc2a	T	C	11: 3,639,084 (GRCm39)	L1025P	probably damaging	Het
Nlrc5	G	T	8: 95,203,321 (GRCm39)	G474W	probably damaging	Het
Olr1	G	T	6: 129,470,572 (GRCm39)	D198E	probably benign	Het
Or5b123	C	A	19: 13,596,874 (GRCm39)	S116*	probably null	Het
Or5d14	G	A	2: 87,880,737 (GRCm39)	T77I	probably benign	Het
Or8c16	T	C	9: 38,130,317 (GRCm39)	I66T	probably benign	Het
Pafah1b1	A	T	11: 74,575,278 (GRCm39)	S209T	probably damaging	Het
Phf14	A	T	6: 11,961,641 (GRCm39)	Y426F	possibly damaging	Het
Phldb1	A	G	9: 44,615,455 (GRCm39)	V855A	probably benign	Het
Pira2	T	G	7: 3,847,592 (GRCm39)	R32S	possibly damaging	Het
Pnldc1	T	C	17: 13,111,676 (GRCm39)	I344V	probably benign	Het
Prss29	T	C	17: 25,539,881 (GRCm39)	V93A	probably benign	Het
Ptpn13	C	T	5: 103,640,098 (GRCm39)	L186F	probably damaging	Het
Ralgps1	A	C	2: 33,048,999 (GRCm39)	C303W	probably damaging	Het
Sdr42e1	T	A	8: 118,390,342 (GRCm39)	N100Y	probably damaging	Het
Serpina11	A	T	12: 103,952,503 (GRCm39)	L96Q	probably damaging	Het
Slc12a8	G	A	16: 33,445,288 (GRCm39)	R448H	probably benign	Het
Snrpd1	T	A	18: 10,626,892 (GRCm39)	V53E	probably benign	Het
Ssbp1	T	C	6: 40,454,883 (GRCm39)	V114A	possibly damaging	Het
T	A	G	17: 8,655,037 (GRCm39)	E47G	probably damaging	Het
Tmem156	T	C	5: 65,231,111 (GRCm39)	K189R	probably benign	Het
Trim47	G	T	11: 115,998,678 (GRCm39)	Q314K	possibly damaging	Het
Vmn2r3	G	T	3: 64,186,247 (GRCm39)	P146Q	probably damaging	Het
Vmn2r6	A	C	3: 64,464,015 (GRCm39)	V273G	probably damaging	Het
Wrnip1	G	T	13: 32,990,839 (GRCm39)	R366L	probably damaging	Het
Zfp981	A	T	4: 146,621,357 (GRCm39)	H94L	possibly damaging	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
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'- GGCCAAGTTCACCTTTGACC -3'
(R):5'- AGGAGGCACAGACATTACCC -3'

Sequencing Primer
(F):5'- AAGTTCACCTTTGACCTTCTTCCAC -3'
(R):5'- ATTACCCAGCTCAGGCCTG -3'

Posted On

2016-06-21