Mutagenetix > Incidental Mutation

Incidental Mutation 'R5560:Gjc2'

436545

Institutional Source

Beutler Lab

Gene Symbol

Gjc2

Ensembl Gene

ENSMUSG00000043448

Gene Name

gap junction protein, gamma 2

Synonyms

B230382L12Rik, connexin 47, Gja12, Cx47

MMRRC Submission

043117-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5560 (G1)

Quality Score

102

Status

Not validated

Chromosome

Chromosomal Location

59175568-59183213 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59177359 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 99 (V99A)

Ref Sequence

ENSEMBL: ENSMUSP00000104421 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108790] [ENSMUST00000108793]

AlphaFold

Q8BQU6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108790
AA Change: V99A

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104418
Gene: ENSMUSG00000043448
AA Change: V99A

Domain	Start	End	E-Value	Type
CNX	45	78	3.37e-17	SMART
low complexity region	101	127	N/A	INTRINSIC
low complexity region	128	142	N/A	INTRINSIC
low complexity region	143	193	N/A	INTRINSIC
Connexin_CCC	222	288	9.88e-42	SMART
low complexity region	298	330	N/A	INTRINSIC
low complexity region	347	372	N/A	INTRINSIC
low complexity region	388	405	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108793
AA Change: V99A

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104421
Gene: ENSMUSG00000043448
AA Change: V99A

Domain	Start	End	E-Value	Type
CNX	45	78	3.37e-17	SMART
low complexity region	101	127	N/A	INTRINSIC
low complexity region	128	142	N/A	INTRINSIC
low complexity region	143	193	N/A	INTRINSIC
Connexin_CCC	222	288	9.88e-42	SMART
low complexity region	298	330	N/A	INTRINSIC
low complexity region	347	372	N/A	INTRINSIC
low complexity region	388	405	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.7%
20x: 92.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination in humans. Defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one null allele are viable and behaviorally normal with no CNS demyelination detected in the spinal cord. In contrast, mice homozygous for a different null allele display a conspicuous vacuolation of CNS nerve fibers, especially in the myelinated region of the optic nerve. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acyp2	C	T	11: 30,506,354 (GRCm38)	E98K	possibly damaging	Het
Adipor1	T	C	1: 134,426,040 (GRCm38)	W188R	possibly damaging	Het
Agrn	T	C	4: 156,178,497 (GRCm38)	D441G	probably damaging	Het
Ankrd55	T	C	13: 112,383,490 (GRCm38)	S570P	probably benign	Het
Ano9	C	G	7: 141,110,482 (GRCm38)	G80R	probably damaging	Het
Arhgef2	T	A	3: 88,634,437 (GRCm38)	V250E	probably damaging	Het
Atp2b2	T	C	6: 113,774,358 (GRCm38)	D583G	possibly damaging	Het
Bcar3	T	A	3: 122,426,575 (GRCm38)	D40E	possibly damaging	Het
Capn12	A	G	7: 28,882,860 (GRCm38)	D133G	probably benign	Het
Ccna1	A	T	3: 55,048,569 (GRCm38)	Y269N	probably damaging	Het
Cct6b	A	T	11: 82,741,413 (GRCm38)	Y250N	probably damaging	Het
Cep112	A	C	11: 108,437,235 (GRCm38)	K98Q	probably damaging	Het
Chst13	T	C	6: 90,318,269 (GRCm38)	D54G	probably damaging	Het
Clstn2	G	T	9: 97,469,819 (GRCm38)	H518N	possibly damaging	Het
Cntnap1	T	A	11: 101,182,435 (GRCm38)	L581M	probably damaging	Het
Cog3	T	A	14: 75,729,393 (GRCm38)	M446L	probably damaging	Het
D430042O09Rik	T	C	7: 125,854,561 (GRCm38)	V1150A	probably benign	Het
Dennd2c	T	A	3: 103,161,555 (GRCm38)	I756K	probably damaging	Het
Dennd3	T	G	15: 73,532,895 (GRCm38)	L273R	probably damaging	Het
Dhx34	C	A	7: 16,218,541 (GRCm38)	R53L	probably benign	Het
Dnah9	G	A	11: 65,881,740 (GRCm38)	T3722I	probably benign	Het
Dnajb12	GC	G	10: 59,892,752 (GRCm38)		probably null	Het
Dusp6	A	G	10: 99,266,241 (GRCm38)	Y217C	probably damaging	Het
Dyrk1b	G	A	7: 28,184,253 (GRCm38)	R178Q	possibly damaging	Het
Eif4g1	T	A	16: 20,686,895 (GRCm38)	C1009S	probably benign	Het
Fam198a	T	C	9: 121,978,223 (GRCm38)	F478L	possibly damaging	Het
Frmpd1	A	T	4: 45,243,697 (GRCm38)	T57S	probably damaging	Het
Gm9955	A	T	18: 24,709,092 (GRCm38)		probably benign	Het
Gpr158	A	G	2: 21,826,290 (GRCm38)	I734V	possibly damaging	Het
Herc1	A	T	9: 66,451,119 (GRCm38)	H2494L	probably benign	Het
Hist1h1c	A	G	13: 23,739,407 (GRCm38)	S187G	probably benign	Het
Hjurp	GT	GTT	1: 88,266,524 (GRCm38)		probably null	Het
Hmgcs1	A	G	13: 119,699,815 (GRCm38)		probably null	Het
Invs	A	T	4: 48,416,084 (GRCm38)	T655S	probably benign	Het
Ipo9	G	A	1: 135,402,245 (GRCm38)	L486F	probably damaging	Het
Kcnj6	A	T	16: 94,832,965 (GRCm38)	L96M	probably benign	Het
Lfng	A	G	5: 140,614,267 (GRCm38)	D354G	possibly damaging	Het
Lgsn	T	C	1: 31,196,872 (GRCm38)	L139P	probably damaging	Het
Madd	C	A	2: 91,163,545 (GRCm38)	V923L	probably damaging	Het
Mfsd7a	A	T	5: 108,448,863 (GRCm38)	M1K	probably null	Het
Mical1	A	T	10: 41,478,965 (GRCm38)	I157F	probably damaging	Het
Mis18bp1	T	C	12: 65,152,816 (GRCm38)	N154S	possibly damaging	Het
Mrps14	A	G	1: 160,195,535 (GRCm38)	K6R	probably benign	Het
Mug1	T	A	6: 121,861,073 (GRCm38)	C421S	probably damaging	Het
Myo18b	A	G	5: 112,868,295 (GRCm38)	I696T	probably damaging	Het
Naf1	T	C	8: 66,883,545 (GRCm38)	Y375H	probably damaging	Het
Nsf	T	A	11: 103,863,255 (GRCm38)	E485V	possibly damaging	Het
Nup188	A	G	2: 30,309,885 (GRCm38)	D307G	probably damaging	Het
Ocel1	C	A	8: 71,372,478 (GRCm38)	P108T	probably damaging	Het
Oip5	A	G	2: 119,613,059 (GRCm38)	S177P	probably damaging	Het
Olfr1436	G	A	19: 12,298,644 (GRCm38)	Q163*	probably null	Het
Olfr365	A	G	2: 37,201,930 (GRCm38)	I230V	probably benign	Het
Olfr51	A	C	11: 51,007,523 (GRCm38)	I184L	possibly damaging	Het
Olfr943	A	C	9: 39,184,184 (GRCm38)	E2A	probably benign	Het
Omg	A	G	11: 79,501,758 (GRCm38)	W425R	possibly damaging	Het
Pikfyve	A	G	1: 65,253,407 (GRCm38)	Y1339C	probably damaging	Het
Polr3e	A	G	7: 120,922,949 (GRCm38)	D6G	possibly damaging	Het
Pou4f3	C	A	18: 42,395,415 (GRCm38)	P141Q	probably benign	Het
Rcsd1	T	A	1: 165,655,501 (GRCm38)	N337I	possibly damaging	Het
Rhoj	C	T	12: 75,391,712 (GRCm38)	P91S	probably damaging	Het
Rnf10	A	G	5: 115,249,998 (GRCm38)	F367S	probably damaging	Het
Rnft1	A	T	11: 86,493,196 (GRCm38)	R307S	probably benign	Het
Ryr3	A	T	2: 112,754,877 (GRCm38)	F2788Y	probably damaging	Het
Scgb1c1	A	G	7: 140,846,224 (GRCm38)	K78E	possibly damaging	Het
Scn5a	G	T	9: 119,560,286 (GRCm38)	A123E	probably damaging	Het
Setd2	T	A	9: 110,549,839 (GRCm38)	Y623*	probably null	Het
Tbl2	C	T	5: 135,157,591 (GRCm38)	Q216*	probably null	Het
Thegl	A	G	5: 77,016,486 (GRCm38)	D112G	possibly damaging	Het
Tnc	A	G	4: 64,008,709 (GRCm38)	I860T	probably damaging	Het
Trafd1	T	C	5: 121,373,303 (GRCm38)	K484R	possibly damaging	Het
Trank1	T	C	9: 111,390,567 (GRCm38)	V2124A	probably damaging	Het
Trpm4	A	T	7: 45,310,332 (GRCm38)	W713R	probably damaging	Het
Uap1l1	T	C	2: 25,362,676 (GRCm38)	T451A	probably benign	Het
Uba6	A	T	5: 86,131,260 (GRCm38)	C668S	probably damaging	Het
Ubxn11	T	C	4: 134,126,624 (GRCm38)	F441S	probably damaging	Het
Vmn1r22	C	T	6: 57,900,738 (GRCm38)	V85M	probably damaging	Het
Vmn2r72	T	A	7: 85,751,942 (GRCm38)	I90L	probably damaging	Het
Wdr60	T	C	12: 116,218,113 (GRCm38)	S769G	probably damaging	Het
Zfp330	T	C	8: 82,764,956 (GRCm38)	E196G	probably benign	Het
Zfp746	A	G	6: 48,082,174 (GRCm38)	V167A	possibly damaging	Het
Zfp994	T	C	17: 22,201,713 (GRCm38)	E85G	possibly damaging	Het

Other mutations in Gjc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01667:Gjc2	APN	11	59,177,518 (GRCm38)	missense	probably damaging	1.00
IGL02191:Gjc2	APN	11	59,177,560 (GRCm38)	missense	probably damaging	0.99
FR4342:Gjc2	UTSW	11	59,182,743 (GRCm38)	unclassified	probably benign
R0086:Gjc2	UTSW	11	59,176,846 (GRCm38)	missense	probably benign	0.39
R0201:Gjc2	UTSW	11	59,177,590 (GRCm38)	missense	possibly damaging	0.79
R1478:Gjc2	UTSW	11	59,177,608 (GRCm38)	missense	possibly damaging	0.66
R5211:Gjc2	UTSW	11	59,177,458 (GRCm38)	missense	possibly damaging	0.77
R5395:Gjc2	UTSW	11	59,177,489 (GRCm38)	missense	possibly damaging	0.95
R5906:Gjc2	UTSW	11	59,176,841 (GRCm38)	missense	probably benign	0.39
R6909:Gjc2	UTSW	11	59,177,092 (GRCm38)	missense	unknown
R7055:Gjc2	UTSW	11	59,177,030 (GRCm38)	missense	unknown
R7241:Gjc2	UTSW	11	59,177,134 (GRCm38)	missense	unknown
R8353:Gjc2	UTSW	11	59,177,014 (GRCm38)	missense	unknown
R8416:Gjc2	UTSW	11	59,177,508 (GRCm38)	missense	probably damaging	0.99
R8546:Gjc2	UTSW	11	59,176,356 (GRCm38)	missense	unknown
R9276:Gjc2	UTSW	11	59,177,627 (GRCm38)	missense	probably damaging	1.00
Z1177:Gjc2	UTSW	11	59,177,617 (GRCm38)	missense	probably damaging	1.00
Z1186:Gjc2	UTSW	11	59,182,735 (GRCm38)	critical splice donor site	probably benign
Z1186:Gjc2	UTSW	11	59,176,492 (GRCm38)	missense	unknown
Z1187:Gjc2	UTSW	11	59,182,735 (GRCm38)	critical splice donor site	probably benign
Z1187:Gjc2	UTSW	11	59,176,433 (GRCm38)	missense	unknown
Z1188:Gjc2	UTSW	11	59,182,735 (GRCm38)	critical splice donor site	probably benign
Z1188:Gjc2	UTSW	11	59,176,492 (GRCm38)	missense	unknown
Z1188:Gjc2	UTSW	11	59,176,433 (GRCm38)	missense	unknown
Z1189:Gjc2	UTSW	11	59,182,735 (GRCm38)	critical splice donor site	probably benign
Z1189:Gjc2	UTSW	11	59,176,492 (GRCm38)	missense	unknown
Z1190:Gjc2	UTSW	11	59,182,735 (GRCm38)	critical splice donor site	probably benign
Z1191:Gjc2	UTSW	11	59,182,735 (GRCm38)	critical splice donor site	probably benign
Z1191:Gjc2	UTSW	11	59,176,492 (GRCm38)	missense	unknown
Z1191:Gjc2	UTSW	11	59,176,433 (GRCm38)	missense	unknown
Z1192:Gjc2	UTSW	11	59,182,735 (GRCm38)	critical splice donor site	probably benign
Z1192:Gjc2	UTSW	11	59,176,492 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACCTCGAAGCCGTACAGTAG -3'
(R):5'- GTCTTCCGCATTGTGCTGAC -3'

Sequencing Primer
(F):5'- AGGAGTGACCACCGTCTTG -3'
(R):5'- ATTGTGCTGACAGCCGTC -3'

Posted On

2016-10-24