Mutagenetix > Incidental Mutation

Incidental Mutation 'R6909:Gjc2'

538936

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

045001-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6909 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59066394-59074039 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59067918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 188 (V188E)

Ref Sequence

ENSEMBL: ENSMUSP00000104421 (fasta)

Gene Model

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

AlphaFold

Q8BQU6

Predicted Effect

unknown
Transcript: ENSMUST00000108790
AA Change: V188E

SMART Domains

Protein: ENSMUSP00000104418
Gene: ENSMUSG00000043448
AA Change: V188E

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: V188E

SMART Domains

Protein: ENSMUSP00000104421
Gene: ENSMUSG00000043448
AA Change: V188E

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: 99.9%
10x: 99.1%
20x: 97.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	G	T	11: 110,006,323 (GRCm39)	Q1261K	probably benign	Het
Acp3	T	C	9: 104,178,164 (GRCm39)	Y329C	probably damaging	Het
Agrn	G	T	4: 156,261,464 (GRCm39)	H585N	possibly damaging	Het
Ano1	G	A	7: 144,209,468 (GRCm39)	T211M	probably damaging	Het
Atic	T	G	1: 71,616,005 (GRCm39)		probably null	Het
Catsperd	T	A	17: 56,957,781 (GRCm39)	S229R	probably damaging	Het
Ccdc168	C	T	1: 44,098,935 (GRCm39)	R721Q	possibly damaging	Het
Cfap210	A	T	2: 69,612,192 (GRCm39)		probably null	Het
Cfap251	A	G	5: 123,425,815 (GRCm39)	Y418C	probably damaging	Het
Cibar1	T	C	4: 12,168,309 (GRCm39)	T97A	probably benign	Het
Cmya5	T	C	13: 93,227,760 (GRCm39)	T2443A	probably benign	Het
Dysf	A	T	6: 84,169,920 (GRCm39)	E1772V	probably damaging	Het
Eps8l1	T	A	7: 4,472,899 (GRCm39)	L107*	probably null	Het
Fpr3	T	A	17: 18,191,429 (GRCm39)	F233L	probably benign	Het
Gm45861	T	A	8: 28,017,109 (GRCm39)	Y690N	unknown	Het
Gsdma2	T	A	11: 98,543,383 (GRCm39)	C224*	probably null	Het
Gucy2d	T	A	7: 98,116,832 (GRCm39)	Y881N	probably damaging	Het
Hcn3	A	G	3: 89,059,936 (GRCm39)		probably null	Het
Hectd1	G	T	12: 51,810,945 (GRCm39)		probably null	Het
Ifitm5	A	G	7: 140,529,172 (GRCm39)	F146L	probably benign	Het
Impg2	T	C	16: 56,024,947 (GRCm39)	F18S	probably damaging	Het
Ino80c	T	A	18: 24,241,812 (GRCm39)		probably benign	Het
Itga10	A	G	3: 96,569,915 (GRCm39)	H1109R	probably benign	Het
Kdm3b	T	A	18: 34,960,381 (GRCm39)		probably null	Het
Klra8	T	G	6: 130,102,123 (GRCm39)	N104T	probably benign	Het
Llgl2	G	A	11: 115,741,625 (GRCm39)	C585Y	probably damaging	Het
Lmod2	T	A	6: 24,604,157 (GRCm39)	D377E	probably benign	Het
Lrat	G	A	3: 82,810,961 (GRCm39)	S20F	probably damaging	Het
Lrrc43	T	A	5: 123,638,482 (GRCm39)	H363Q	probably benign	Het
Lyst	T	G	13: 13,917,960 (GRCm39)	I3340S	probably damaging	Het
Magi1	C	A	6: 93,674,301 (GRCm39)	G948W	probably damaging	Het
Map3k4	A	C	17: 12,489,872 (GRCm39)	F520V	probably damaging	Het
Mcm4	A	T	16: 15,446,561 (GRCm39)	N607K	probably damaging	Het
Mta3	T	C	17: 84,073,980 (GRCm39)	V216A	possibly damaging	Het
Ncor1	C	A	11: 62,220,312 (GRCm39)	G2131V	probably damaging	Het
Or10ag2	A	G	2: 87,248,959 (GRCm39)	H189R	probably damaging	Het
Or2z9	T	A	8: 72,854,372 (GRCm39)	V256E	possibly damaging	Het
Or5d16	A	G	2: 87,773,034 (GRCm39)	S313P	probably benign	Het
Or9k7	T	A	10: 130,046,622 (GRCm39)	I126L	probably benign	Het
Pramel12	T	C	4: 143,144,479 (GRCm39)	L275P	probably damaging	Het
Ptpn2	A	T	18: 67,809,041 (GRCm39)		probably null	Het
Scn10a	A	G	9: 119,438,856 (GRCm39)	I1671T	probably damaging	Het
Scyl2	A	T	10: 89,481,604 (GRCm39)	S622T	probably benign	Het
Sim1	C	T	10: 50,785,506 (GRCm39)	R192C	possibly damaging	Het
Skor2	A	G	18: 76,948,252 (GRCm39)	H658R	possibly damaging	Het
Slc10a5	A	G	3: 10,400,655 (GRCm39)	S2P	possibly damaging	Het
Slc37a4	A	T	9: 44,311,331 (GRCm39)	K207N	possibly damaging	Het
Syne2	G	T	12: 76,110,969 (GRCm39)	V5768L	probably benign	Het
Tdpoz3	T	A	3: 93,733,772 (GRCm39)	V149E	probably damaging	Het
Tekt5	T	C	16: 10,176,165 (GRCm39)	N460S	probably damaging	Het
Tk2	G	T	8: 104,963,442 (GRCm39)	Y142*	probably null	Het
Tkfc	T	A	19: 10,573,630 (GRCm39)	Q236L	probably benign	Het
Tln2	G	A	9: 67,299,814 (GRCm39)	T148I	probably damaging	Het
Trim62	A	G	4: 128,778,021 (GRCm39)	D20G	probably damaging	Het
Tspan14	A	C	14: 40,635,398 (GRCm39)	V166G	probably benign	Het
Ttn	A	T	2: 76,712,065 (GRCm39)		probably benign	Het
Vmn1r217	T	A	13: 23,298,108 (GRCm39)	M265L	probably benign	Het
Vmn2r117	C	G	17: 23,698,479 (GRCm39)	Q31H	possibly damaging	Het
Zfp87	T	C	13: 74,519,861 (GRCm39)	T406A	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
R7055:Gjc2	UTSW	11	59,067,856 (GRCm39)	missense	unknown
R7241:Gjc2	UTSW	11	59,067,960 (GRCm39)	missense	unknown
R8353:Gjc2	UTSW	11	59,067,840 (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'- TGACCAGCAAGAAGACCGTC -3'
(R):5'- GTCATGTACCTGGGCTATGCAG -3'

Sequencing Primer
(F):5'- CACTACGTGGGGGCAAG -3'
(R):5'- ATGCAGTCCACCGCTTG -3'

Posted On

2018-11-06