Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01759:Gjd2'

153494

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gjd2

Ensembl Gene

ENSMUSG00000068615

Gene Name

gap junction protein, delta 2

Synonyms

Cx36, Gja9, connexin36

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.178) question?

Stock #

IGL01759

Quality Score

Status

Chromosome

Chromosomal Location

113840082-113844100 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113841587 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 297 (I297L)

Ref Sequence

ENSEMBL: ENSMUSP00000087742 (fasta)

Gene Model

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

AlphaFold

O54851

Predicted Effect

probably benign
Transcript: ENSMUST00000090275
AA Change: I297L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000087742
Gene: ENSMUSG00000068615
AA Change: I297L

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: ENSMUST00000147411

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152254

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143993

Coding Region Coverage

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3	A	T	11: 95,726,625 (GRCm39)	D150E	probably damaging	Het
Akr1c14	T	A	13: 4,131,139 (GRCm39)	I277N	probably damaging	Het
Ap1b1	C	T	11: 4,969,433 (GRCm39)	T263I	probably damaging	Het
Atp6v0d2	C	A	4: 19,878,335 (GRCm39)	V313L	probably damaging	Het
Car2	G	A	3: 14,960,688 (GRCm39)		probably null	Het
Cdh17	T	A	4: 11,771,262 (GRCm39)		probably benign	Het
Cep295	A	G	9: 15,234,855 (GRCm39)		probably null	Het
Cep97	T	C	16: 55,750,936 (GRCm39)	K27E	probably damaging	Het
Cops5	A	T	1: 10,097,474 (GRCm39)	N258K	probably damaging	Het
Dchs1	T	A	7: 105,404,509 (GRCm39)	T2678S	probably benign	Het
Dnah10	T	A	5: 124,832,850 (GRCm39)	F861Y	probably benign	Het
Dock10	T	C	1: 80,503,990 (GRCm39)	E1777G	probably damaging	Het
Dock5	G	A	14: 68,118,708 (GRCm39)	Q23*	probably null	Het
Ermp1	T	C	19: 29,593,236 (GRCm39)	K752R	probably benign	Het
Fhip1a	A	C	3: 85,595,754 (GRCm39)	I377S	probably damaging	Het
Gm1123	T	C	9: 98,905,307 (GRCm39)	M68V	probably benign	Het
Gm28372	C	T	2: 130,248,818 (GRCm39)	R59W	probably damaging	Het
Gm9912	A	C	3: 148,891,074 (GRCm39)	F20V	unknown	Het
Gpat2	T	C	2: 127,272,816 (GRCm39)	F176S	possibly damaging	Het
Gpr150	T	C	13: 76,203,784 (GRCm39)	H387R	possibly damaging	Het
Gpr20	T	A	15: 73,568,269 (GRCm39)	D40V	probably damaging	Het
Hrob	T	C	11: 102,146,422 (GRCm39)	C233R	probably benign	Het
Jakmip3	A	T	7: 138,622,633 (GRCm39)	Q331L	probably damaging	Het
Kif5b	A	G	18: 6,225,647 (GRCm39)	V179A	probably damaging	Het
Kif5b	A	T	18: 6,211,019 (GRCm39)		probably benign	Het
Krt14	A	T	11: 100,095,242 (GRCm39)		probably benign	Het
L3mbtl3	A	G	10: 26,207,798 (GRCm39)	F307S	unknown	Het
Laptm4a	T	C	12: 8,984,687 (GRCm39)		probably benign	Het
Marveld3	T	C	8: 110,674,719 (GRCm39)	S366G	possibly damaging	Het
Mga	C	A	2: 119,781,676 (GRCm39)	T2234K	possibly damaging	Het
Mkrn2os	T	C	6: 115,569,292 (GRCm39)	N54S	probably benign	Het
Mras	T	C	9: 99,293,548 (GRCm39)	I31V	probably damaging	Het
Myh1	A	G	11: 67,110,732 (GRCm39)	D1518G	probably damaging	Het
Myoz2	A	T	3: 122,807,430 (GRCm39)	Y127N	possibly damaging	Het
Nhlrc1	C	A	13: 47,167,438 (GRCm39)	W273L	probably benign	Het
Nol9	C	T	4: 152,130,500 (GRCm39)		probably benign	Het
Nrxn2	T	C	19: 6,559,959 (GRCm39)	V1206A	probably damaging	Het
Or2ag1b	T	C	7: 106,288,540 (GRCm39)	T133A	probably benign	Het
Or5k16	A	T	16: 58,736,291 (GRCm39)	F238I	probably damaging	Het
Or6c5	T	A	10: 129,074,941 (GRCm39)	F308I	probably benign	Het
Or6f2	T	C	7: 139,756,447 (GRCm39)	I138T	probably benign	Het
Or8g2b	T	A	9: 39,750,907 (GRCm39)	M59K	probably damaging	Het
Pappa	T	C	4: 65,123,395 (GRCm39)		probably null	Het
Pfkl	A	G	10: 77,836,565 (GRCm39)	S151P	probably damaging	Het
Pgbd5	C	T	8: 125,111,118 (GRCm39)	G191D	probably damaging	Het
Pikfyve	T	C	1: 65,292,512 (GRCm39)	V1276A	probably benign	Het
Pla2g4c	T	A	7: 13,082,241 (GRCm39)	Y486N	probably damaging	Het
Rasal2	C	A	1: 157,003,502 (GRCm39)	V386L	probably benign	Het
S1pr3	G	A	13: 51,573,548 (GRCm39)	R243Q	probably damaging	Het
Slc44a4	A	G	17: 35,140,219 (GRCm39)	D208G	probably benign	Het
Slc6a4	T	C	11: 76,904,114 (GRCm39)	S190P	probably damaging	Het
Snapc5	A	T	9: 64,087,779 (GRCm39)		probably null	Het
Tbc1d14	C	A	5: 36,728,913 (GRCm39)	R151L	probably damaging	Het
Tecpr2	T	A	12: 110,897,826 (GRCm39)		probably benign	Het
Tmem219	G	A	7: 126,496,310 (GRCm39)	P44L	probably damaging	Het
Ube2e1	T	C	14: 18,330,951 (GRCm38)	R51G	probably null	Het
Ugp2	T	C	11: 21,303,447 (GRCm39)	K53E	probably benign	Het
Vmn1r214	T	C	13: 23,218,662 (GRCm39)	I52T	probably benign	Het
Vmn2r124	C	T	17: 18,284,330 (GRCm39)	T457I	probably benign	Het
Vps13b	A	G	15: 35,878,935 (GRCm39)	E2978G	probably damaging	Het
Zfr	A	G	15: 12,159,741 (GRCm39)	D679G	probably damaging	Het
Zhx3	T	C	2: 160,622,634 (GRCm39)	N511S	probably damaging	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
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
R4809:Gjd2	UTSW	2	113,842,022 (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

Posted On

2014-02-04