Mutagenetix > Incidental Mutation

Incidental Mutation 'R8353:Gjc2'

660546

Institutional Source

Beutler Lab

Gene Symbol

Gjc2

Ensembl Gene

ENSMUSG00000043448

Gene Name

gap junction protein, gamma 2

Synonyms

Gja12, B230382L12Rik, Cx47, connexin 47

MMRRC Submission

067805-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8353 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59066394-59074039 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 59067840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 214 (A214V)

Ref Sequence

ENSEMBL: ENSMUSP00000104421 (fasta)

Gene Model

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

AlphaFold

Q8BQU6

Predicted Effect

unknown
Transcript: ENSMUST00000108790
AA Change: A214V

SMART Domains

Protein: ENSMUSP00000104418
Gene: ENSMUSG00000043448
AA Change: A214V

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

unknown
Transcript: ENSMUST00000108793
AA Change: A214V

SMART Domains

Protein: ENSMUSP00000104421
Gene: ENSMUSG00000043448
AA Change: A214V

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (61/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abr	T	C	11: 76,310,659 (GRCm39)	T752A	probably damaging	Het
Adar	A	G	3: 89,657,569 (GRCm39)	T508A	possibly damaging	Het
Atxn3	T	A	12: 101,912,159 (GRCm39)	K85I	probably benign	Het
Atxn7l1	G	T	12: 33,197,882 (GRCm39)	W50L	probably damaging	Het
Bahcc1	T	C	11: 120,165,251 (GRCm39)	V894A	probably damaging	Het
Bloc1s3	G	T	7: 19,241,324 (GRCm39)	T68K	probably benign	Het
Bmerb1	T	A	16: 13,855,877 (GRCm39)		probably null	Het
Brd10	T	C	19: 29,731,242 (GRCm39)	H590R	possibly damaging	Het
C130073F10Rik	C	T	4: 101,747,881 (GRCm39)		probably null	Het
Cd55b	T	C	1: 130,341,870 (GRCm39)	I256V	probably benign	Het
Celsr3	T	A	9: 108,703,734 (GRCm39)	D72E	probably benign	Het
Cep41	T	C	6: 30,658,891 (GRCm39)	D152G	probably benign	Het
Cip2a	C	T	16: 48,821,436 (GRCm39)	Q181*	probably null	Het
Cpne8	C	A	15: 90,425,496 (GRCm39)	K285N	possibly damaging	Het
Csmd3	A	T	15: 47,813,349 (GRCm39)	I1061K	probably damaging	Het
Cspg4	A	T	9: 56,805,953 (GRCm39)	N2255Y	probably damaging	Het
Cym	T	A	3: 107,129,025 (GRCm39)		probably benign	Het
Cyp2d9	T	C	15: 82,336,720 (GRCm39)	V23A	probably damaging	Het
Dnah1	A	T	14: 31,005,159 (GRCm39)	I2365K	probably benign	Het
Dock5	C	T	14: 68,054,957 (GRCm39)		probably null	Het
Dop1a	A	T	9: 86,403,639 (GRCm39)	H1613L	probably damaging	Het
Dusp5	T	C	19: 53,518,113 (GRCm39)	V122A	possibly damaging	Het
Emc6	A	G	11: 73,067,399 (GRCm39)	L44P	probably damaging	Het
Fbxl6	G	T	15: 76,422,678 (GRCm39)	T80K	probably benign	Het
Frrs1	T	A	3: 116,692,822 (GRCm39)	M32K	possibly damaging	Het
Gfod1	A	G	13: 43,354,366 (GRCm39)	V203A	possibly damaging	Het
Gkn2	T	C	6: 87,355,135 (GRCm39)	Y115H	probably damaging	Het
Gpatch1	A	C	7: 34,976,704 (GRCm39)		probably benign	Het
Hemgn	G	T	4: 46,403,935 (GRCm39)	P20Q	possibly damaging	Het
Herc1	G	T	9: 66,415,571 (GRCm39)	V4849L	possibly damaging	Het
Hmcn2	A	T	2: 31,275,353 (GRCm39)		probably null	Het
Htt	C	A	5: 35,034,499 (GRCm39)	T1990N	possibly damaging	Het
Jrk	C	T	15: 74,578,474 (GRCm39)	W270*	probably null	Het
Katnb1	A	G	8: 95,822,072 (GRCm39)	D266G	probably damaging	Het
Klhl42	A	G	6: 147,009,421 (GRCm39)	K420R	probably damaging	Het
Lamb1	C	A	12: 31,356,998 (GRCm39)	T1035K	probably damaging	Het
Laptm5	T	C	4: 130,656,079 (GRCm39)		probably null	Het
Lilra5	T	C	7: 4,240,971 (GRCm39)	S22P	probably benign	Het
Mn1	A	G	5: 111,568,505 (GRCm39)	N825S	possibly damaging	Het
Mup17	C	T	4: 61,510,419 (GRCm39)		probably null	Het
Ncapd3	T	A	9: 26,983,100 (GRCm39)	D949E	probably benign	Het
Ncoa7	T	C	10: 30,570,155 (GRCm39)	E230G	probably damaging	Het
Nxnl1	A	G	8: 72,015,512 (GRCm39)	V132A	probably damaging	Het
Oard1	A	G	17: 48,723,788 (GRCm39)	I145V	probably benign	Het
Pabpc4	T	G	4: 123,189,846 (GRCm39)	L555R	probably benign	Het
Ppp1r11	G	T	17: 37,260,866 (GRCm39)	S21R	possibly damaging	Het
Prr36	T	C	8: 4,263,831 (GRCm39)		probably benign	Het
Serpina1a	T	A	12: 103,822,038 (GRCm39)	D298V	probably benign	Het
Sqle	A	T	15: 59,196,314 (GRCm39)	H369L	possibly damaging	Het
Stambp	T	C	6: 83,538,881 (GRCm39)	E173G	probably damaging	Het
Syne1	T	C	10: 5,300,983 (GRCm39)	N915S	probably damaging	Het
Tjap1	C	A	17: 46,593,530 (GRCm39)		probably benign	Het
Tmem62	A	C	2: 120,814,817 (GRCm39)	K30T	probably damaging	Het
Tmtc1	T	C	6: 148,327,346 (GRCm39)	T56A	probably benign	Het
Trav6-4	A	T	14: 53,691,946 (GRCm39)	M18L	probably benign	Het
Trim69	T	C	2: 121,998,490 (GRCm39)	I154T	possibly damaging	Het
Uggt1	T	C	1: 36,209,377 (GRCm39)		probably null	Het
Usp48	T	A	4: 137,350,693 (GRCm39)	M60K	probably benign	Het
Usp7	A	G	16: 8,513,735 (GRCm39)	S753P	probably benign	Het
Vmn2r27	A	C	6: 124,169,404 (GRCm39)	N575K	probably damaging	Het
Wdfy4	A	C	14: 32,695,581 (GRCm39)	D2672E	probably benign	Het
Zdhhc17	G	A	10: 110,845,803 (GRCm39)	P30L	probably benign	Het
Zmym4	T	A	4: 126,800,905 (GRCm39)	Y565F	possibly damaging	Het

Other mutations in Gjc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01667:Gjc2	APN	11	59,068,344 (GRCm39)	missense	probably damaging	1.00
IGL02191:Gjc2	APN	11	59,068,386 (GRCm39)	missense	probably damaging	0.99
FR4342:Gjc2	UTSW	11	59,073,569 (GRCm39)	unclassified	probably benign
R0086:Gjc2	UTSW	11	59,067,672 (GRCm39)	missense	probably benign	0.39
R0201:Gjc2	UTSW	11	59,068,416 (GRCm39)	missense	possibly damaging	0.79
R1478:Gjc2	UTSW	11	59,068,434 (GRCm39)	missense	possibly damaging	0.66
R5211:Gjc2	UTSW	11	59,068,284 (GRCm39)	missense	possibly damaging	0.77
R5395:Gjc2	UTSW	11	59,068,315 (GRCm39)	missense	possibly damaging	0.95
R5560:Gjc2	UTSW	11	59,068,185 (GRCm39)	missense	possibly damaging	0.66
R5906:Gjc2	UTSW	11	59,067,667 (GRCm39)	missense	probably benign	0.39
R6909:Gjc2	UTSW	11	59,067,918 (GRCm39)	missense	unknown
R7055:Gjc2	UTSW	11	59,067,856 (GRCm39)	missense	unknown
R7241:Gjc2	UTSW	11	59,067,960 (GRCm39)	missense	unknown
R8416:Gjc2	UTSW	11	59,068,334 (GRCm39)	missense	probably damaging	0.99
R8546:Gjc2	UTSW	11	59,067,182 (GRCm39)	missense	unknown
R9276:Gjc2	UTSW	11	59,068,453 (GRCm39)	missense	probably damaging	1.00
Z1177:Gjc2	UTSW	11	59,068,443 (GRCm39)	missense	probably damaging	1.00
Z1186:Gjc2	UTSW	11	59,073,561 (GRCm39)	critical splice donor site	probably benign
Z1186:Gjc2	UTSW	11	59,067,318 (GRCm39)	missense	unknown
Z1187:Gjc2	UTSW	11	59,073,561 (GRCm39)	critical splice donor site	probably benign
Z1187:Gjc2	UTSW	11	59,067,259 (GRCm39)	missense	unknown
Z1188:Gjc2	UTSW	11	59,073,561 (GRCm39)	critical splice donor site	probably benign
Z1188:Gjc2	UTSW	11	59,067,318 (GRCm39)	missense	unknown
Z1188:Gjc2	UTSW	11	59,067,259 (GRCm39)	missense	unknown
Z1189:Gjc2	UTSW	11	59,073,561 (GRCm39)	critical splice donor site	probably benign
Z1189:Gjc2	UTSW	11	59,067,318 (GRCm39)	missense	unknown
Z1190:Gjc2	UTSW	11	59,073,561 (GRCm39)	critical splice donor site	probably benign
Z1191:Gjc2	UTSW	11	59,073,561 (GRCm39)	critical splice donor site	probably benign
Z1191:Gjc2	UTSW	11	59,067,318 (GRCm39)	missense	unknown
Z1191:Gjc2	UTSW	11	59,067,259 (GRCm39)	missense	unknown
Z1192:Gjc2	UTSW	11	59,073,561 (GRCm39)	critical splice donor site	probably benign
Z1192:Gjc2	UTSW	11	59,067,318 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATCTCACAGAGGTTGAGCAAC -3'
(R):5'- CATATTGGCTCTAGAGGAGGATG -3'

Sequencing Primer
(F):5'- TAGACAGCTAACCACGTACATG -3'
(R):5'- TATTGGCTCTAGAGGAGGATGAGGAC -3'

Posted On

2021-01-18