Mutagenetix > Incidental Mutation

Incidental Mutation 'R7461:Gjd2'

578434

Institutional Source

Beutler Lab

Gene Symbol

Gjd2

Ensembl Gene

ENSMUSG00000068615

Gene Name

gap junction protein, delta 2

Synonyms

Cx36, Gja9, connexin36

MMRRC Submission

045535-MU

Accession Numbers

Essential gene?

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

Stock #

R7461 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113840082-113844100 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 113841599 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 293 (S293A)

Ref Sequence

ENSEMBL: ENSMUSP00000087742 (fasta)

Gene Model

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

AlphaFold

O54851

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090275
AA Change: S293A

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000087742
Gene: ENSMUSG00000068615
AA Change: S293A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (53/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
Adgrb2	CTATA	CTATATA	4: 129,915,006 (GRCm39)		probably benign	Het
Akt2	A	G	7: 27,336,595 (GRCm39)	I448V	probably benign	Het
Anapc5	G	A	5: 122,956,928 (GRCm39)	T117M	probably damaging	Het
Arhgap10	T	C	8: 78,115,326 (GRCm39)	E358G	probably damaging	Het
C1qtnf6	T	A	15: 78,411,549 (GRCm39)	K42N	probably benign	Het
Cacna1d	A	T	14: 29,788,120 (GRCm39)	D1605E	probably benign	Het
Cdkl1	T	A	12: 69,803,235 (GRCm39)	I214L	probably benign	Het
Celsr2	C	T	3: 108,302,956 (GRCm39)	G2506R	probably damaging	Het
Cenpj	G	A	14: 56,764,501 (GRCm39)	R1304*	probably null	Het
Cfap58	A	G	19: 47,970,561 (GRCm39)	D593G	possibly damaging	Het
Crip2	T	C	12: 113,107,777 (GRCm39)		probably null	Het
Crocc2	G	T	1: 93,122,311 (GRCm39)	A735S	possibly damaging	Het
Dcc	A	T	18: 71,439,105 (GRCm39)	L1279H	probably damaging	Het
Dnah2	A	G	11: 69,439,816 (GRCm39)		probably null	Het
Dpp8	C	T	9: 64,960,402 (GRCm39)	T311M	possibly damaging	Het
Eps15	T	C	4: 109,186,922 (GRCm39)	S330P	probably damaging	Het
Exoc2	C	T	13: 31,066,255 (GRCm39)	V474I	probably benign	Het
Fmn1	A	G	2: 113,194,416 (GRCm39)	T39A	unknown	Het
Foxn2	T	C	17: 88,794,311 (GRCm39)	I416T	possibly damaging	Het
Gbp8	T	C	5: 105,178,880 (GRCm39)	E145G	probably damaging	Het
Gm3676	T	A	14: 41,365,233 (GRCm39)	I141L	probably benign	Het
Gm4131	A	G	14: 62,718,538 (GRCm39)	Y23H	possibly damaging	Het
Gucy1b1	T	A	3: 81,947,054 (GRCm39)	D385V	possibly damaging	Het
Hdac2	T	C	10: 36,865,232 (GRCm39)	S149P	probably damaging	Het
Igsf9b	A	T	9: 27,245,418 (GRCm39)	R1128S	probably benign	Het
Invs	A	G	4: 48,392,668 (GRCm39)	H294R	probably damaging	Het
Itgbl1	T	A	14: 124,065,211 (GRCm39)	S122T	possibly damaging	Het
Kansl3	G	A	1: 36,382,876 (GRCm39)	S812F	probably damaging	Het
Kcnt1	A	T	2: 25,791,358 (GRCm39)	H567L	probably benign	Het
Klhl30	G	T	1: 91,285,130 (GRCm39)	V329F	possibly damaging	Het
Krt33a	A	G	11: 99,902,765 (GRCm39)	I353T	probably damaging	Het
Lrrc37	G	T	11: 103,507,116 (GRCm39)	H1617Q	unknown	Het
Lrrc7	T	C	3: 157,892,657 (GRCm39)	T331A	probably benign	Het
Megf10	G	T	18: 57,385,925 (GRCm39)	V313F	probably damaging	Het
Myo15a	A	G	11: 60,395,978 (GRCm39)	T1438A		Het
Myocd	A	G	11: 65,109,429 (GRCm39)	L114P	probably damaging	Het
Or5b21	A	T	19: 12,839,141 (GRCm39)	M1L	probably benign	Het
Pde4b	A	G	4: 102,112,503 (GRCm39)	E29G	probably damaging	Het
Por	G	T	5: 135,758,358 (GRCm39)	A112S	probably damaging	Het
Prkcq	T	C	2: 11,304,221 (GRCm39)	F651S	probably damaging	Het
Selenoi	A	G	5: 30,471,926 (GRCm39)	I376V	possibly damaging	Het
Setbp1	A	C	18: 78,899,707 (GRCm39)	M1320R	probably benign	Het
Skint6	A	T	4: 113,034,243 (GRCm39)		probably null	Het
Tdrd6	T	C	17: 43,938,817 (GRCm39)	T744A	probably benign	Het
Tmem209	C	T	6: 30,508,469 (GRCm39)	W61*	probably null	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Top1	A	T	2: 160,554,762 (GRCm39)		probably null	Het
Tradd	T	C	8: 105,987,196 (GRCm39)	K37E	possibly damaging	Het
Ttc28	C	A	5: 111,371,995 (GRCm39)	L846M	probably damaging	Het
Umodl1	T	A	17: 31,207,031 (GRCm39)	C807*	probably null	Het
Upf2	T	A	2: 5,978,347 (GRCm39)	S404T	unknown	Het
Wscd1	T	C	11: 71,650,799 (GRCm39)	L42P	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
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
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'- ATCCTAGACCTTCACAGCGAG -3'
(R):5'- GTTGTATGAGTGCAACCGTTAC -3'

Sequencing Primer
(F):5'- CGAGCATCACCCGAATGAGG -3'
(R):5'- ATGAGTGCAACCGTTACCCCTG -3'

Posted On

2019-10-07