Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4342:Gjc2'

511270

Institutional Source

Beutler Lab

Gene Symbol

Gjc2

Ensembl Gene

ENSMUSG00000043448

Gene Name

gap junction protein, gamma 2

Synonyms

Gja12, B230382L12Rik, Cx47, connexin 47

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

FR4342 ()

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

59066394-59074039 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to TCCCG at 59073569 bp (GRCm39)

Zygosity

Homozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134236 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108790] [ENSMUST00000108793] [ENSMUST00000170202] [ENSMUST00000170895] [ENSMUST00000172714]

AlphaFold

Q8BQU6

Predicted Effect

probably benign
Transcript: ENSMUST00000108790

SMART Domains

Protein: ENSMUSP00000104418
Gene: ENSMUSG00000043448

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

probably benign
Transcript: ENSMUST00000108793

SMART Domains

Protein: ENSMUSP00000104421
Gene: ENSMUSG00000043448

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

noncoding transcript
Transcript: ENSMUST00000130815

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151211

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154386

Predicted Effect

probably benign
Transcript: ENSMUST00000170202

SMART Domains

Protein: ENSMUSP00000127566
Gene: ENSMUSG00000020444

Domain	Start	End	E-Value	Type
GuKc	24	210	1.36e-94	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170895

SMART Domains

Protein: ENSMUSP00000130214
Gene: ENSMUSG00000020444

Domain	Start	End	E-Value	Type
GuKc	12	198	1.36e-94	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172714

Coding Region Coverage

1x: 99.7%
3x: 99.4%
10x: 97.8%
20x: 93.8%

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	TT	TTATGT	8: 125,566,572 (GRCm39)		probably null	Homo
4930433I11Rik	AACC	A	7: 40,642,479 (GRCm39)		probably benign	Het
7530416G11Rik	T	A	15: 85,378,508 (GRCm39)	E45V	unknown	Homo
Ankrd35	TCCCC	TCCC	3: 96,590,831 (GRCm39)		probably null	Het
Anxa2	CCC	CCCACC	9: 69,387,487 (GRCm39)		probably benign	Het
Anxa2	C	CCCA	9: 69,387,492 (GRCm39)		probably benign	Het
Apc	CAATAAAGC	CAATAAAGCAAATAAAGC	18: 34,415,052 (GRCm39)		probably benign	Homo
Arrb2	C	T	11: 70,329,497 (GRCm39)	T269M	probably damaging	Homo
Bcas3	G	A	11: 85,400,323 (GRCm39)	V431I	probably benign	Homo
Begain	CCCCGCC	CCCCGCCCCCGCC	12: 108,999,344 (GRCm39)		probably benign	Homo
Catsper2	TCA	TCAACA	2: 121,228,274 (GRCm39)		probably benign	Het
Ccdc121	GAGAAG	GAG	5: 31,644,717 (GRCm39)		probably benign	Homo
Cd164	G	T	10: 41,397,922 (GRCm39)	A59S	probably benign	Homo
Cd22	C	T	7: 30,577,507 (GRCm39)	R2H	possibly damaging	Homo
Cimip2b	CAGAG	CAG	4: 43,427,384 (GRCm39)		probably null	Homo
Cluh	GAGCCT	GAGCCTCAGCCT	11: 74,560,350 (GRCm39)		probably benign	Het
Cluh	GCCTGA	GCCTGAACCTGA	11: 74,560,352 (GRCm39)		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,080,401 (GRCm39)		probably benign	Het
Col2a1	C	A	15: 97,886,862 (GRCm39)		probably null	Het
Col6a5	A	T	9: 105,811,373 (GRCm39)	N715K	unknown	Homo
Cpeb4	T	TGA	11: 31,877,638 (GRCm39)		probably benign	Homo
Dbr1	AGGAGG	AGGAGGGGGAGG	9: 99,465,733 (GRCm39)		probably benign	Het
Defa29	C	G	8: 21,816,160 (GRCm39)	R69P	probably benign	Het
Dhx8	CG	CGAGAACGG	11: 101,629,032 (GRCm39)		probably null	Het
Dnaaf9	TCC	TCCCCC	2: 130,612,662 (GRCm39)		probably benign	Het
Dnah12	G	T	14: 26,571,342 (GRCm39)	G2817V	probably damaging	Homo
Dthd1	C	CTTA	5: 63,000,369 (GRCm39)		probably benign	Homo
E4f1	GC	GCCCC	17: 24,674,171 (GRCm39)		probably benign	Het
F830016B08Rik	A	ACAG	18: 60,433,013 (GRCm39)		probably benign	Homo
Fbrsl1	GTGTGTGTGCTGGTGCGTGTGCTGGTG	GTGTGTGTGCTGGTGTGTGTGCTGGTGCGTGTGCTGGTG	5: 110,525,991 (GRCm39)		probably benign	Het
Fbxo22	A	C	9: 55,128,354 (GRCm39)		probably null	Het
Flg	G	A	3: 93,197,820 (GRCm39)		probably benign	Het
Fmn1	TCC	TCCTCCACC	2: 113,356,128 (GRCm39)		probably benign	Homo
Frmpd2	G	T	14: 33,232,978 (GRCm39)	L399F	probably damaging	Homo
Gbp2b	A	G	3: 142,309,413 (GRCm39)	I175V	probably benign	Het
Gm14496	A	C	2: 181,637,699 (GRCm39)	K258Q	probably benign	Het
Gm4340	CAGAAG	CAGAAGAAG	10: 104,031,960 (GRCm39)		probably benign	Het
Gm4340	CAGAAG	CAGAAGAAG	10: 104,031,927 (GRCm39)		probably benign	Het
Gpatch11	AGAGGA	AGAGGATGAGGA	17: 79,149,607 (GRCm39)		probably benign	Het
H1f6	TGTGG	TG	13: 23,879,896 (GRCm39)		probably benign	Homo
H2-Q4	G	A	17: 35,599,381 (GRCm39)	D155N	probably damaging	Homo
Hoxa3	G	GCTT	6: 52,147,110 (GRCm39)		probably benign	Homo
Ifi208	ATGGTG	ATG	1: 173,505,264 (GRCm39)		probably benign	Homo
Ighv5-9	C	T	12: 113,625,497 (GRCm39)	S82N	probably benign	Homo
Klra10	G	A	6: 130,249,710 (GRCm39)	R192C	probably benign	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,285,800 (GRCm39)		probably benign	Het
Krt10	CGCC	CGCCGCC	11: 99,277,025 (GRCm39)		probably benign	Het
Krt10	ACC	ACCCCC	11: 99,277,029 (GRCm39)		probably benign	Homo
Lce1m	CGCTGCTGCTGCCACAGCA	C	3: 92,925,554 (GRCm39)		probably benign	Het
Mak16	T	G,A	8: 31,651,777 (GRCm39)	E203D	probably benign	Homo
Med12l	AGC	AGCGGC	3: 59,183,409 (GRCm39)		probably benign	Het
Med12l	AGCGGC	AGCGGCGGC	3: 59,183,415 (GRCm39)		probably benign	Het
Mn1	AGC	AGCGGC	5: 111,567,572 (GRCm39)		probably benign	Het
Nacad	TC	TCAGGGGC	11: 6,549,762 (GRCm39)		probably benign	Het
Naip1	C	T	13: 100,561,979 (GRCm39)	R1062K	probably benign	Het
Ndel1	G	A	11: 68,724,235 (GRCm39)	P246L	probably damaging	Het
Nelfe	AC	ACAAAGAGCGGGATCGAGACAGAGCC	17: 35,073,065 (GRCm39)		probably benign	Het
Or51q1	TCC	TCCC	7: 103,629,110 (GRCm39)		probably null	Het
Or5p70	A	G	7: 107,995,100 (GRCm39)	T258A	probably benign	Het
Or5p70	G	A	7: 107,995,105 (GRCm39)	M259I	probably benign	Het
P4ha2	GTGTTGCTG	GTG	11: 54,001,077 (GRCm39)		probably benign	Homo
Pde3b	GGTGGTGGTG	GGTGGTGGTGGTG	7: 114,134,010 (GRCm39)		probably benign	Homo
Pdik1l	ACCACC	ACCACCCCCACC	4: 134,006,820 (GRCm39)		probably benign	Homo
Phaf1	G	A	8: 105,967,730 (GRCm39)	G207E	probably benign	Homo
Plekhs1	AGAC	AGACCTCCCCCGCGAC	19: 56,468,293 (GRCm39)		probably benign	Homo
Plekhs1	TCCAGAC	TCCAGACCTCCCCCCAGAC	19: 56,468,290 (GRCm39)		probably benign	Homo
Pramel16	AAGAG	AAG	4: 143,676,327 (GRCm39)		probably null	Het
Pramel16	G	A	4: 143,676,312 (GRCm39)	T264M	probably damaging	Het
Pramel27	AA	AATA	4: 143,578,213 (GRCm39)		probably null	Homo
Prkn	G	A	17: 12,073,650 (GRCm39)	V323M	probably damaging	Homo
Ptms	TCT	TCTCCT	6: 124,891,417 (GRCm39)		probably benign	Homo
Raet1d	A	G	10: 22,247,458 (GRCm39)	Q178R	probably benign	Het
Rtbdn	AGCG	AGCGCCGGCG	8: 85,682,797 (GRCm39)		probably benign	Het
Rtbdn	GC	GCAGCGCC	8: 85,682,807 (GRCm39)		probably benign	Het
Semp2l2a	G	C	8: 13,887,613 (GRCm39)	H159Q	probably benign	Het
Serac1	T	A	17: 6,121,083 (GRCm39)	K70N	probably damaging	Homo
Sfswap	CCCACTC	CCCACTCAGACCACTC	5: 129,646,821 (GRCm39)		probably benign	Homo
Sp110	ACT	ACTGCT	1: 85,515,209 (GRCm39)		probably benign	Het
Spaca1	GCTCTC	GCTCTCACTCTC	4: 34,049,838 (GRCm39)		probably benign	Het
Spag17	GGA	GGATGA	3: 99,963,565 (GRCm39)		probably benign	Het
Spag17	GGAGGAGGA	GGAGGAGGAGGA	3: 99,963,568 (GRCm39)		probably benign	Homo
Speer4a1	C	A	5: 26,241,746 (GRCm39)	E127*	probably null	Het
Sry	GGT	GGTTGT	Y: 2,662,836 (GRCm39)		probably benign	Het
Sry	TGG	TGGGGG	Y: 2,662,835 (GRCm39)		probably benign	Het
Sry	CTGCTGGTG	CTG	Y: 2,663,146 (GRCm39)		probably benign	Het
Sry	GGT	GGTAGT	Y: 2,662,839 (GRCm39)		probably benign	Homo
Tdpoz3	C	T	3: 93,733,819 (GRCm39)	P165S	probably benign	Het
Tdpoz4	GAA	GA	3: 93,704,187 (GRCm39)		probably null	Het
Tert	AGGCC	AGGCCAAGGGGGCC	13: 73,796,419 (GRCm39)		probably benign	Homo
Tmbim7	C	T	5: 3,720,064 (GRCm39)	R100C	possibly damaging	Homo
Tnfrsf9	CT	CTGAT	4: 151,018,851 (GRCm39)		probably benign	Homo
Tob1	AGC	AGCCGC	11: 94,105,298 (GRCm39)		probably benign	Het
Trav6n-5	GCTT	G	14: 53,342,369 (GRCm39)		probably benign	Homo
Triobp	G	GTCA	15: 78,877,592 (GRCm39)		probably benign	Homo
Tsen2	AGG	AGGTGG	6: 115,537,033 (GRCm39)		probably benign	Het
Ubtf	TCC	TCCGCC	11: 102,197,782 (GRCm39)		probably benign	Het
Ubtf	TC	TCCCC	11: 102,197,785 (GRCm39)		probably benign	Het
Vmn2r125	G	A	4: 156,703,260 (GRCm39)	V213I	probably benign	Het
Vmn2r87	C	T	10: 130,314,583 (GRCm39)	M334I	probably benign	Homo
Zdhhc16	G	A	19: 41,930,588 (GRCm39)		probably benign	Het
Zfp28	G	A	7: 6,397,862 (GRCm39)	G766R	probably damaging	Het
Zfp335	GTCGTC	GTCGTCGTC	2: 164,749,385 (GRCm39)		probably benign	Het
Zfp335	C	CCCC	2: 164,749,397 (GRCm39)		probably benign	Het
Zfp428	G	A	7: 24,214,506 (GRCm39)	D41N	probably damaging	Homo
Zfp429	A	T	13: 67,544,769 (GRCm39)	F48Y	probably benign	Het
Zfp598	CCACC	CCACCCACACC	17: 24,899,754 (GRCm39)		probably benign	Het
Zfp93	G	A	7: 23,975,011 (GRCm39)	R332H	possibly damaging	Het
Zpld2	G	GCTC	4: 133,929,942 (GRCm39)		probably benign	Homo

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
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
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'- ATCTGGCCAGAGACTCAGTG -3'
(R):5'- TGGACTTCAAGTGGAGGCTG -3'

Sequencing Primer
(F):5'- ACTCAGTGAGTCTTCCAGGG -3'
(R):5'- CAATCATGGATTCAGACCCTAGGG -3'

Posted On

2018-04-05