Mutagenetix > Incidental Mutation

Incidental Mutation 'R7464:Cngb1'

578642

Institutional Source

Beutler Lab

Gene Symbol

Cngb1

Ensembl Gene

ENSMUSG00000031789

Gene Name

cyclic nucleotide gated channel beta 1

Synonyms

BC016201, Cngb1b, Cngb1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7464 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95239045-95306585 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 95254183 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 914 (W914L)

Ref Sequence

ENSEMBL: ENSMUSP00000113827 (fasta)

Gene Model

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

AlphaFold

E1AZ71

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119870
AA Change: W914L

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113827
Gene: ENSMUSG00000031789
AA Change: W914L

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: W455L

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: W455L

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: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (79/82)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	C	T	6: 23,077,153	G736R	possibly damaging	Het
Acta2	G	A	19: 34,252,531	T8I	probably benign	Het
Ankar	A	T	1: 72,698,894	V43E	possibly damaging	Het
Apof	A	G	10: 128,269,636	I220V	probably benign	Het
Asxl1	G	T	2: 153,397,785	A499S	probably benign	Het
Baz2a	T	A	10: 128,122,073	D1069E	possibly damaging	Het
Baz2b	T	C	2: 59,977,448	T156A	possibly damaging	Het
Bbc3	A	T	7: 16,317,157	R169W	unknown	Het
C5ar1	T	A	7: 16,248,766	I110L	probably benign	Het
C87414	C	T	5: 93,636,240	C455Y	probably damaging	Het
Cd19	C	A	7: 126,411,803	R323L	probably damaging	Het
Cdc14b	A	T	13: 64,196,675	C113*	probably null	Het
Colgalt2	A	G	1: 152,504,144	K445E	probably damaging	Het
Crebrf	A	G	17: 26,763,487	M608V	unknown	Het
Csf1	T	A	3: 107,748,875	H280L	probably benign	Het
Cyp2j11	C	A	4: 96,345,120	R113L	probably damaging	Het
D5Ertd579e	G	A	5: 36,613,785	H1089Y	probably damaging	Het
Ddx60	C	T	8: 61,940,674	T48M	possibly damaging	Het
Dock10	T	C	1: 80,540,315	D1315G	probably damaging	Het
Dock2	T	G	11: 34,695,278	N526H	probably damaging	Het
Dram2	T	C	3: 106,573,683	*268Q	probably null	Het
Emc8	A	G	8: 120,667,918	Y21H	possibly damaging	Het
Fam162a	A	G	16: 36,071,493	L4P	probably damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fbxw10	T	A	11: 62,853,298	I307N	probably benign	Het
Fbxw16	A	G	9: 109,439,551	V257A	possibly damaging	Het
Fer1l6	T	A	15: 58,573,247		probably null	Het
Galnt7	A	G	8: 57,584,020	Y112H	possibly damaging	Het
Gigyf2	T	C	1: 87,428,604	I803T	unknown	Het
Gm10696	A	T	3: 94,176,104	N133K	probably benign	Het
Gm15292	T	A	8: 21,249,894	S45T	probably damaging	Het
Gm28729	A	G	9: 96,521,235	I44T	possibly damaging	Het
Gm5447	A	G	13: 30,974,394	I34V	not run	Het
H2-M9	A	T	17: 36,642,411		probably null	Het
Helz	G	A	11: 107,636,278	C864Y	probably damaging	Het
Il25	A	G	14: 54,933,222	Y84C	probably null	Het
Itga10	T	A	3: 96,648,155	C142S	probably damaging	Het
Kcna10	A	T	3: 107,194,079	M9L	probably damaging	Het
Klhl6	G	T	16: 19,957,113	Q232K	possibly damaging	Het
Mb21d2	T	G	16: 28,929,546	I40L	possibly damaging	Het
Mdm1	T	C	10: 118,152,266	S334P	probably benign	Het
Mllt10	T	A	2: 18,170,279	D549E	probably benign	Het
Mlxipl	T	C	5: 135,133,628	V648A	probably benign	Het
Nars2	A	G	7: 97,039,930	K353R	probably benign	Het
Nav1	T	A	1: 135,584,909	M138L	probably benign	Het
Neb	T	C	2: 52,193,890	T5635A	probably benign	Het
Nktr	A	C	9: 121,750,327	I1154L	unknown	Het
Olfr1284	T	A	2: 111,379,198	L66Q	probably damaging	Het
Olfr47	T	G	6: 43,236,294	S229A	probably damaging	Het
Olfr761	A	T	17: 37,952,280	V248D	probably damaging	Het
Oxld1	T	C	11: 120,457,137	D78G	probably benign	Het
Pde1b	T	C	15: 103,524,829	I255T	probably benign	Het
Pkp4	T	A	2: 59,308,137	F244I	probably benign	Het
Polg2	C	A	11: 106,773,714	V305L	probably benign	Het
Ptpn18	G	A	1: 34,473,364	D417N	possibly damaging	Het
Sash1	T	C	10: 8,756,745	D242G	possibly damaging	Het
Six4	T	C	12: 73,112,530	T219A	possibly damaging	Het
Slc28a3	A	C	13: 58,563,021	Y562*	probably null	Het
Soat1	A	T	1: 156,439,317	W310R	probably damaging	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,656,691		probably benign	Het
Spef2	T	C	15: 9,740,585	N30D	probably benign	Het
Srebf2	T	A	15: 82,172,874	I270N	probably damaging	Het
St8sia3	T	C	18: 64,271,518	W289R	probably damaging	Het
Stx5a	T	A	19: 8,743,504		probably benign	Het
Tacc1	T	C	8: 25,164,464	D689G	probably damaging	Het
Tacc3	A	G	5: 33,661,284	D21G	probably benign	Het
Tapt1	G	A	5: 44,188,688	R307*	probably null	Het
Tbc1d9b	T	A	11: 50,131,485	V16E	probably damaging	Het
Tchhl1	G	A	3: 93,470,664	R225K	probably benign	Het
Thumpd3	G	A	6: 113,055,769	G156D	probably benign	Het
Tmem178	C	T	17: 80,944,902	P72S	probably benign	Het
Tmem52	C	T	4: 155,469,469	P46S	probably benign	Het
Tmem94	G	T	11: 115,786,256	R118L	possibly damaging	Het
Tulp3	A	T	6: 128,326,829	V269D	probably benign	Het
Ubr1	A	G	2: 120,889,774		probably null	Het
Upf1	G	A	8: 70,333,423	S962L	probably benign	Het
Vcpip1	C	T	1: 9,746,520	R546Q	probably damaging	Het
Vmn2r49	A	C	7: 9,988,893	S151R	probably benign	Het
Wac	T	C	18: 7,871,746		probably null	Het
Wrn	C	T	8: 33,335,996		probably null	Het
Zfp286	C	A	11: 62,780,801	D149Y	probably benign	Het
Zfp748	A	G	13: 67,541,972	C390R	probably damaging	Het
Zfp873	A	G	10: 82,060,376	T314A	possibly damaging	Het
Zfyve1	C	T	12: 83,551,487	D656N	probably benign	Het
Zmym1	T	A	4: 127,058,935	K18*	probably null	Het

Other mutations in Cngb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Cngb1	APN	8	95242184	splice site	probably benign
IGL01575:Cngb1	APN	8	95264520	missense	possibly damaging	0.51
IGL02329:Cngb1	APN	8	95242359	missense	probably benign	0.14
IGL03332:Cngb1	APN	8	95298846	splice site	probably benign
IGL03391:Cngb1	APN	8	95303705	unclassified	probably benign
stevie	UTSW	8	95260130	missense	probably damaging	1.00
swannie	UTSW	8	95297128	critical splice acceptor site	probably null
R0078:Cngb1	UTSW	8	95264545	critical splice acceptor site	probably null
R0116:Cngb1	UTSW	8	95260638	missense	probably damaging	1.00
R1073:Cngb1	UTSW	8	95303567	critical splice donor site	probably null
R1166:Cngb1	UTSW	8	95260181	missense	probably damaging	0.99
R1714:Cngb1	UTSW	8	95257931	missense	probably damaging	1.00
R1753:Cngb1	UTSW	8	95297773	critical splice donor site	probably benign
R1760:Cngb1	UTSW	8	95299700	missense	probably benign	0.03
R1833:Cngb1	UTSW	8	95242355	missense	probably damaging	1.00
R1935:Cngb1	UTSW	8	95299692	missense	probably damaging	1.00
R1939:Cngb1	UTSW	8	95299692	missense	probably damaging	1.00
R1940:Cngb1	UTSW	8	95299692	missense	probably damaging	1.00
R2045:Cngb1	UTSW	8	95297085	splice site	probably null
R2379:Cngb1	UTSW	8	95260130	missense	probably damaging	1.00
R2940:Cngb1	UTSW	8	95252107	missense	probably benign	0.44
R4034:Cngb1	UTSW	8	95264450	missense	possibly damaging	0.47
R4058:Cngb1	UTSW	8	95267654	missense	probably benign	0.00
R4425:Cngb1	UTSW	8	95299716	missense	probably damaging	1.00
R4585:Cngb1	UTSW	8	95297128	critical splice acceptor site	probably null
R4591:Cngb1	UTSW	8	95253384	missense	probably damaging	1.00
R4638:Cngb1	UTSW	8	95266019	missense	probably damaging	1.00
R4906:Cngb1	UTSW	8	95251973	missense	probably damaging	0.96
R4950:Cngb1	UTSW	8	95248507	missense	probably damaging	1.00
R4979:Cngb1	UTSW	8	95259157	missense	probably damaging	0.99
R5148:Cngb1	UTSW	8	95265983	missense	probably benign	0.28
R5474:Cngb1	UTSW	8	95251969	missense	probably damaging	1.00
R5475:Cngb1	UTSW	8	95251969	missense	probably damaging	1.00
R5545:Cngb1	UTSW	8	95252173	missense
R5585:Cngb1	UTSW	8	95263139	missense	probably damaging	1.00
R5637:Cngb1	UTSW	8	95257921	missense	probably damaging	1.00
R5785:Cngb1	UTSW	8	95254195	missense	possibly damaging	0.90
R5967:Cngb1	UTSW	8	95251906	missense	probably damaging	1.00
R6013:Cngb1	UTSW	8	95284321	unclassified	probably benign
R6049:Cngb1	UTSW	8	95270842	missense	probably damaging	0.99
R6370:Cngb1	UTSW	8	95264422	missense	probably benign	0.33
R6377:Cngb1	UTSW	8	95248980	missense	probably damaging	1.00
R6401:Cngb1	UTSW	8	95303739	unclassified	probably benign
R6427:Cngb1	UTSW	8	95297759	intron	probably benign
R6492:Cngb1	UTSW	8	95264424	missense	probably benign	0.01
R6613:Cngb1	UTSW	8	95266010	missense	possibly damaging	0.95
R6721:Cngb1	UTSW	8	95270888	missense	probably benign	0.05
R6919:Cngb1	UTSW	8	95248375	missense	probably null	1.00
R7012:Cngb1	UTSW	8	95257955	missense	possibly damaging	0.83
R7418:Cngb1	UTSW	8	95278259	nonsense	probably null
R7806:Cngb1	UTSW	8	95298804	critical splice donor site	probably null
R8048:Cngb1	UTSW	8	95263210	missense	possibly damaging	0.90
R8074:Cngb1	UTSW	8	95252173	missense
R8189:Cngb1	UTSW	8	95303620	unclassified	probably benign
R8245:Cngb1	UTSW	8	95297780	missense	unknown
R8286:Cngb1	UTSW	8	95275624	missense
R8819:Cngb1	UTSW	8	95253409	critical splice acceptor site	probably null
R8906:Cngb1	UTSW	8	95263108	missense	probably damaging	1.00
R8979:Cngb1	UTSW	8	95278285	start gained	probably benign
R9075:Cngb1	UTSW	8	95253365	missense	probably damaging	1.00
R9131:Cngb1	UTSW	8	95253265	missense	probably benign	0.02
R9311:Cngb1	UTSW	8	95284166	critical splice donor site	probably null
R9375:Cngb1	UTSW	8	95299722	missense	unknown
R9745:Cngb1	UTSW	8	95241291	missense	unknown
R9773:Cngb1	UTSW	8	95248414	missense	probably damaging	1.00
RF010:Cngb1	UTSW	8	95303650	frame shift	probably null
RF053:Cngb1	UTSW	8	95303648	frame shift	probably null
T0722:Cngb1	UTSW	8	95296650	missense	probably benign	0.02
T0722:Cngb1	UTSW	8	95297819	missense	probably damaging	0.99
T0722:Cngb1	UTSW	8	95303696	unclassified	probably benign
T0722:Cngb1	UTSW	8	95303714	unclassified	probably benign
Z1177:Cngb1	UTSW	8	95252136	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGCACAGAGAAGCTTCCAG -3'
(R):5'- CATATCTATGTCCCAGGATGGC -3'

Sequencing Primer
(F):5'- GCGGGGGTGGGAGAACTAC -3'
(R):5'- ATGGCATGTTCTCACAAGGC -3'

Posted On

2019-10-07