Mutagenetix > Incidental Mutation

Incidental Mutation 'R0212:Gjd2'

33515

Institutional Source

Beutler Lab

Gene Symbol

Gjd2

Ensembl Gene

ENSMUSG00000068615

Gene Name

gap junction protein, delta 2

Synonyms

Cx36, Gja9, connexin36

MMRRC Submission

038463-MU

Accession Numbers

Essential gene?

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

Stock #

R0212 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113840082-113844100 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113841953 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 175 (T175A)

Ref Sequence

ENSEMBL: ENSMUSP00000087742 (fasta)

Gene Model

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

AlphaFold

O54851

Predicted Effect

probably benign
Transcript: ENSMUST00000090275
AA Change: T175A

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

SMART Domains

Protein: ENSMUSP00000087742
Gene: ENSMUSG00000068615
AA Change: T175A

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: ENSMUST00000143993

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152254

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147411

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.1%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	G	A	5: 36,006,254 (GRCm39)		probably null	Het
Adat1	T	A	8: 112,713,840 (GRCm39)	D113V	possibly damaging	Het
Arhgap40	T	G	2: 158,392,495 (GRCm39)	L656V	probably damaging	Het
Atg2a	T	C	19: 6,296,584 (GRCm39)	I330T	probably damaging	Het
Cad	A	G	5: 31,235,454 (GRCm39)	D2137G	probably damaging	Het
Cd8a	G	A	6: 71,350,633 (GRCm39)	E33K	probably benign	Het
Cemip	C	A	7: 83,622,398 (GRCm39)	G594C	probably damaging	Het
Chd6	T	A	2: 160,894,767 (GRCm39)	D31V	probably damaging	Het
Cmpk1	A	T	4: 114,822,216 (GRCm39)	M111K	possibly damaging	Het
Crispld2	T	G	8: 120,737,370 (GRCm39)	H40Q	probably benign	Het
Depdc5	A	G	5: 33,069,586 (GRCm39)	T441A	probably benign	Het
Dpm1	T	C	2: 168,069,414 (GRCm39)	N5S	probably benign	Het
Ercc4	A	G	16: 12,941,196 (GRCm39)		probably null	Het
Fam83f	A	T	15: 80,574,779 (GRCm39)	M229L	probably benign	Het
Fgd5	A	T	6: 91,965,189 (GRCm39)	D474V	probably damaging	Het
Fgf21	G	T	7: 45,263,526 (GRCm39)	P184Q	probably benign	Het
Fry	A	T	5: 150,419,862 (GRCm39)	D1008V	probably damaging	Het
Gphn	C	T	12: 78,684,326 (GRCm39)	T577I	probably damaging	Het
Ifi207	A	T	1: 173,563,964 (GRCm39)	N18K	possibly damaging	Het
Ifne	T	C	4: 88,797,972 (GRCm39)	R149G	possibly damaging	Het
Ift80	A	T	3: 68,847,506 (GRCm39)	L330H	probably benign	Het
Inpp4b	A	T	8: 82,497,546 (GRCm39)	H122L	probably benign	Het
Inpp5e	T	C	2: 26,298,352 (GRCm39)		probably null	Het
Ism1	T	C	2: 139,582,177 (GRCm39)	L163S	probably benign	Het
Itga11	T	A	9: 62,653,251 (GRCm39)	V375E	probably benign	Het
Itpr3	T	G	17: 27,308,293 (GRCm39)	F306V	probably damaging	Het
Kif19a	A	T	11: 114,675,736 (GRCm39)	I403F	possibly damaging	Het
Klf12	A	T	14: 100,260,298 (GRCm39)	S144T	probably benign	Het
Lyst	C	T	13: 13,810,570 (GRCm39)	H747Y	possibly damaging	Het
Mccc2	A	G	13: 100,091,163 (GRCm39)	Y445H	probably benign	Het
Mei1	G	A	15: 81,980,132 (GRCm39)		probably null	Het
Metap2	T	A	10: 93,697,242 (GRCm39)	K479N	probably damaging	Het
Mief2	A	T	11: 60,621,493 (GRCm39)	D62V	probably damaging	Het
Mtrf1	A	G	14: 79,656,719 (GRCm39)	D407G	probably benign	Het
Myo3a	A	G	2: 22,296,659 (GRCm39)	R210G	probably damaging	Het
Nkx2-2	T	C	2: 147,026,090 (GRCm39)	H216R	probably damaging	Het
Nos1	A	G	5: 118,048,277 (GRCm39)	E694G	possibly damaging	Het
Nptn	A	T	9: 58,535,164 (GRCm39)	Y103F	probably benign	Het
Nrxn1	A	G	17: 90,670,186 (GRCm39)		probably benign	Het
Numbl	T	C	7: 26,980,184 (GRCm39)	S389P	probably damaging	Het
Or10d5	A	G	9: 39,861,236 (GRCm39)	V277A	probably benign	Het
Or1q1	T	A	2: 36,887,644 (GRCm39)	V274E	possibly damaging	Het
Or1q1	A	T	2: 36,887,335 (GRCm39)	D171V	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or5d16	A	G	2: 87,773,435 (GRCm39)	F179S	probably damaging	Het
Or5i1	C	T	2: 87,613,826 (GRCm39)	P314L	unknown	Het
Or8g20	C	A	9: 39,396,384 (GRCm39)	S55I	probably damaging	Het
Osm	T	G	11: 4,188,465 (GRCm39)	S31A	probably benign	Het
Paqr4	T	C	17: 23,957,294 (GRCm39)	M70V	probably benign	Het
Pikfyve	T	A	1: 65,302,064 (GRCm39)	Y1607N	probably benign	Het
Plec	A	C	15: 76,075,505 (GRCm39)	Y402*	probably null	Het
Polq	A	G	16: 36,887,216 (GRCm39)	K1631E	probably damaging	Het
Pou6f1	A	G	15: 100,478,696 (GRCm39)	V129A	possibly damaging	Het
Prm2	A	G	16: 10,609,463 (GRCm39)		probably benign	Het
Prtn3	A	G	10: 79,716,971 (GRCm39)	Y112C	probably damaging	Het
Qrfp	T	A	2: 31,698,797 (GRCm39)	H45L	probably benign	Het
Rps6ka5	A	T	12: 100,519,428 (GRCm39)		probably null	Het
Rspo1	G	A	4: 124,885,190 (GRCm39)	R22Q	probably benign	Het
Slc10a1	A	C	12: 81,014,486 (GRCm39)	L78R	possibly damaging	Het
Slc26a5	A	T	5: 22,028,547 (GRCm39)	Y340*	probably null	Het
Sptbn2	T	C	19: 4,796,970 (GRCm39)		probably null	Het
St3gal6	C	A	16: 58,293,816 (GRCm39)	A238S	probably damaging	Het
St3gal6	G	T	16: 58,293,818 (GRCm39)	A237E	probably damaging	Het
Tmem131l	A	T	3: 83,820,575 (GRCm39)	S1226T	probably benign	Het
Togaram2	C	T	17: 72,031,978 (GRCm39)	L866F	probably damaging	Het
Txndc17	A	G	11: 72,098,558 (GRCm39)	T37A	probably benign	Het
Vmn2r105	C	A	17: 20,428,827 (GRCm39)	V750F	possibly damaging	Het
Vmn2r54	T	A	7: 12,366,424 (GRCm39)	Y170F	probably benign	Het
Wrnip1	T	C	13: 33,005,889 (GRCm39)	V577A	probably benign	Het
Zc3h7b	A	G	15: 81,660,529 (GRCm39)	T226A	probably benign	Het
Zfp948	T	C	17: 21,808,422 (GRCm39)	I538T	probably benign	Het
Zzef1	A	G	11: 72,764,736 (GRCm39)	E1401G	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- AGTTCAGCCAGATTGAGCACCAC -3'
(R):5'- AGAACGCCGGTACTCTACTGTCTTC -3'

Sequencing Primer
(F):5'- GGGTAACGGTTGCACTCATAC -3'
(R):5'- TTCCTAGCCCTGGACAGAGAC -3'

Posted On

2013-05-09