Mutagenetix > Incidental Mutation

Incidental Mutation 'R4809:Gjd2'

370874

Institutional Source

Beutler Lab

Gene Symbol

Gjd2

Ensembl Gene

ENSMUSG00000068615

Gene Name

gap junction protein, delta 2

Synonyms

Cx36, Gja9, connexin36

MMRRC Submission

042428-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.197) question?

Stock #

R4809 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113840082-113844100 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 113842022 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 152 (G152R)

Ref Sequence

ENSEMBL: ENSMUSP00000087742 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090275]

AlphaFold

O54851

Predicted Effect

probably damaging
Transcript: ENSMUST00000090275
AA Change: G152R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000087742
Gene: ENSMUSG00000068615
AA Change: G152R

Domain	Start	End	E-Value	Type
CNX	44	77	1.01e-15	SMART
low complexity region	125	137	N/A	INTRINSIC
Connexin_CCC	209	275	4.72e-39	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128469

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131299

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135729

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140041

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141209

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152254

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143993

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147411

Meta Mutation Damage Score

0.0919

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

96% (96/100)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the connexin protein family. Connexins are gap junction proteins which are arranged in groups of 6 around a central pore to form a connexon, a component of the gap junction intercellular channel. The channels formed by this protein allow cationic molecule exchange between human beta cells and may function in the regulation of insulin secretion. [provided by RefSeq, Oct 2012]
PHENOTYPE: Nullizygous mutations can cause loss of electrical synapses, impaired synchronous activity of inhibitory networks, altered spike synchrony in OB glomeruli, absent coupling of alpha-ganglion cells in retina, and abnormal cued conditioning, nerve fiber andsingle cell responses, and insulin secretion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,384,588 (GRCm39)	V459A	probably benign	Het
Abca12	C	T	1: 71,318,015 (GRCm39)	A1840T	probably benign	Het
Abhd6	T	G	14: 8,039,771 (GRCm38)	M1R	probably null	Het
Abl1	T	C	2: 31,690,254 (GRCm39)	L572P	probably damaging	Het
Adamts2	C	A	11: 50,694,517 (GRCm39)	S1101R	probably benign	Het
Adgra2	G	A	8: 27,600,507 (GRCm39)	W200*	probably null	Het
AI661453	C	A	17: 47,778,112 (GRCm39)		probably benign	Het
Aldh1l2	A	G	10: 83,342,496 (GRCm39)	F438S	probably damaging	Het
Ankrd49	G	A	9: 14,692,510 (GRCm39)	T218I	possibly damaging	Het
Ano7	T	C	1: 93,322,288 (GRCm39)	F410L	probably benign	Het
Aox4	T	A	1: 58,305,808 (GRCm39)	F1271I	probably damaging	Het
Aqr	T	C	2: 114,005,695 (GRCm39)		probably benign	Het
Arhgap42	A	G	9: 9,180,118 (GRCm39)	S54P	probably damaging	Het
Aunip	C	A	4: 134,238,450 (GRCm39)	D16E	possibly damaging	Het
Btbd7	A	G	12: 102,760,003 (GRCm39)		probably null	Het
Cabp4	T	C	19: 4,189,290 (GRCm39)	H89R	probably benign	Het
Ccni	AAA	AAACTAA	5: 93,335,429 (GRCm39)		probably benign	Het
Chfr	C	T	5: 110,306,700 (GRCm39)	H410Y	probably damaging	Het
Churc1	C	A	12: 76,829,671 (GRCm39)	L111M	probably damaging	Het
Clasp1	C	T	1: 118,388,980 (GRCm39)	T113I	probably benign	Het
Col12a1	T	A	9: 79,600,849 (GRCm39)	Q745L	probably benign	Het
Col20a1	T	C	2: 180,640,454 (GRCm39)	L537P	probably damaging	Het
Creb5	A	T	6: 53,587,411 (GRCm39)	E47V	probably null	Het
Csnk1d	A	T	11: 120,854,668 (GRCm39)		probably benign	Het
Cts6	A	T	13: 61,349,995 (GRCm39)	W29R	probably damaging	Het
Dbt	T	A	3: 116,339,992 (GRCm39)	I420N	probably damaging	Het
Det1	C	A	7: 78,493,555 (GRCm39)	D150Y	probably damaging	Het
Dlk2	A	G	17: 46,609,940 (GRCm39)		probably null	Het
Dnmt3a	A	T	12: 3,950,352 (GRCm39)	I639F	probably damaging	Het
Dock9	A	T	14: 121,784,008 (GRCm39)	Y1989N	probably benign	Het
Dsg4	A	T	18: 20,599,678 (GRCm39)	T765S	possibly damaging	Het
Entrep2	G	A	7: 64,426,488 (GRCm39)	T159I	probably damaging	Het
Epha5	C	T	5: 84,253,750 (GRCm39)	D548N	possibly damaging	Het
Fam227b	T	A	2: 125,958,045 (GRCm39)	Y240F	possibly damaging	Het
Fbxw21	C	T	9: 108,972,458 (GRCm39)	V395I	probably damaging	Het
Fn1	C	A	1: 71,691,959 (GRCm39)		probably benign	Het
Fpr-rs3	A	T	17: 20,844,683 (GRCm39)	S153T	probably benign	Het
Frem2	A	G	3: 53,561,316 (GRCm39)	F1064L	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gpr75	T	C	11: 30,842,154 (GRCm39)	I353T	possibly damaging	Het
Grb7	T	C	11: 98,342,262 (GRCm39)	V145A	possibly damaging	Het
Igkv4-73	G	A	6: 69,174,807 (GRCm39)	R40W	unknown	Het
Kif1c	C	T	11: 70,617,183 (GRCm39)	A839V	probably benign	Het
Krt31	G	A	11: 99,940,748 (GRCm39)	A125V	possibly damaging	Het
Lamb1	A	G	12: 31,328,525 (GRCm39)	Y163C	probably damaging	Het
Mars1	G	T	10: 127,136,084 (GRCm39)	T535K	probably damaging	Het
Mdc1	T	C	17: 36,159,993 (GRCm39)		probably null	Het
Micos10	C	G	4: 138,858,268 (GRCm39)	W10S	probably damaging	Het
Micu1	C	T	10: 59,576,644 (GRCm39)	H167Y	probably benign	Het
Mrgprb1	C	T	7: 48,097,739 (GRCm39)	V58I	possibly damaging	Het
Ncoa7	T	A	10: 30,647,758 (GRCm39)	E6V	possibly damaging	Het
Nectin3	A	C	16: 46,268,523 (GRCm39)		probably benign	Het
Or13a18	A	G	7: 140,190,987 (GRCm39)	K295E	probably damaging	Het
Or4k44	C	T	2: 111,367,956 (GRCm39)	C226Y	probably benign	Het
Or52ab7	T	A	7: 102,977,730 (GRCm39)	Y12*	probably null	Het
Or8k38	T	A	2: 86,488,029 (GRCm39)	M258L	possibly damaging	Het
Pex16	T	C	2: 92,206,983 (GRCm39)	S54P	probably damaging	Het
Pik3cg	A	T	12: 32,254,080 (GRCm39)	S636T	possibly damaging	Het
Plin5	A	G	17: 56,423,855 (GRCm39)	S27P	probably benign	Het
Ptch1	A	T	13: 63,661,522 (GRCm39)	D1068E	probably damaging	Het
Ptprq	T	C	10: 107,399,036 (GRCm39)	T1960A	probably damaging	Het
Rap1gap2	T	C	11: 74,298,800 (GRCm39)		probably benign	Het
Rcc2	G	A	4: 140,444,353 (GRCm39)	R348Q	probably damaging	Het
Rhbdd3	C	A	11: 5,055,949 (GRCm39)	A377D	probably damaging	Het
Rpl7	T	G	1: 16,172,189 (GRCm39)		probably benign	Het
Scn11a	G	T	9: 119,648,936 (GRCm39)	D42E	probably benign	Het
Scube3	C	T	17: 28,384,147 (GRCm39)	R549W	probably damaging	Het
Sil1	A	T	18: 35,458,428 (GRCm39)	M189K	probably damaging	Het
Slc39a6	G	A	18: 24,718,531 (GRCm39)	Q225*	probably null	Het
Slc7a15	A	T	12: 8,589,002 (GRCm39)	C182S	probably benign	Het
Spata21	G	A	4: 140,824,431 (GRCm39)		probably null	Het
Stim2	T	C	5: 54,267,955 (GRCm39)	V417A	probably damaging	Het
Szt2	T	C	4: 118,246,182 (GRCm39)	D993G	probably damaging	Het
Tet3	A	G	6: 83,379,928 (GRCm39)	S747P	probably benign	Het
Tmem86a	C	G	7: 46,702,678 (GRCm39)	S34R	possibly damaging	Het
Top2b	T	A	14: 16,383,125 (GRCm38)	S38T	probably benign	Het
Trim33	A	T	3: 103,236,572 (GRCm39)	T561S	possibly damaging	Het
Ttc39a	C	T	4: 109,273,218 (GRCm39)	Q25*	probably null	Het
Urb1	A	G	16: 90,556,730 (GRCm39)	I1816T	possibly damaging	Het
Usp24	T	C	4: 106,270,873 (GRCm39)		probably null	Het
Usp36	A	C	11: 118,153,896 (GRCm39)	L840R	probably damaging	Het
Usp50	C	A	2: 126,619,773 (GRCm39)		probably benign	Het
Vangl2	A	G	1: 171,837,230 (GRCm39)	V193A	possibly damaging	Het
Vmn1r62	T	A	7: 5,678,866 (GRCm39)	H182Q	probably benign	Het
Vmn2r124	A	T	17: 18,294,007 (GRCm39)	Y698F	probably benign	Het
Wls	C	T	3: 159,603,082 (GRCm39)	T165I	probably benign	Het
Zfp808	G	T	13: 62,319,106 (GRCm39)	E112*	probably null	Het

Other mutations in Gjd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00424:Gjd2	APN	2	113,842,258 (GRCm39)	missense	probably damaging	1.00
IGL01759:Gjd2	APN	2	113,841,587 (GRCm39)	missense	probably benign	0.00
IGL02307:Gjd2	APN	2	113,842,394 (GRCm39)	missense	possibly damaging	0.95
IGL02862:Gjd2	APN	2	113,843,624 (GRCm39)	utr 5 prime	probably benign
IGL03206:Gjd2	APN	2	113,842,204 (GRCm39)	missense	probably damaging	1.00
R0212:Gjd2	UTSW	2	113,841,953 (GRCm39)	missense	probably benign	0.00
R1306:Gjd2	UTSW	2	113,842,346 (GRCm39)	missense	probably damaging	0.97
R1637:Gjd2	UTSW	2	113,841,789 (GRCm39)	nonsense	probably null
R1719:Gjd2	UTSW	2	113,843,614 (GRCm39)	start codon destroyed	probably null	1.00
R2051:Gjd2	UTSW	2	113,841,539 (GRCm39)	missense	probably damaging	1.00
R5596:Gjd2	UTSW	2	113,841,965 (GRCm39)	missense	possibly damaging	0.93
R6891:Gjd2	UTSW	2	113,843,575 (GRCm39)	missense	possibly damaging	0.85
R7338:Gjd2	UTSW	2	113,841,583 (GRCm39)	missense	probably damaging	1.00
R7461:Gjd2	UTSW	2	113,841,599 (GRCm39)	missense	possibly damaging	0.94
R7693:Gjd2	UTSW	2	113,842,309 (GRCm39)	missense	probably damaging	1.00
R8463:Gjd2	UTSW	2	113,842,053 (GRCm39)	missense	probably benign	0.00
R9133:Gjd2	UTSW	2	113,842,039 (GRCm39)	missense	probably benign
R9688:Gjd2	UTSW	2	113,842,109 (GRCm39)	missense	probably benign	0.34
R9785:Gjd2	UTSW	2	113,841,747 (GRCm39)	nonsense	probably null
X0065:Gjd2	UTSW	2	113,842,118 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CCCAATCTCCAGAGCATTTCG -3'
(R):5'- GGTCTTCCAGATCATAATGGTGTG -3'

Sequencing Primer
(F):5'- GCATTTCGAAACACCACTTGGATG -3'
(R):5'- GTGTGCACCCCCAGTCTCTG -3'

Posted On

2016-02-04