Mutagenetix > Incidental Mutation

Incidental Mutation 'R1478:Gjc2'

165644

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

039531-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1478 (G1)

Quality Score

170

Status

Not validated

Chromosome

Chromosomal Location

59066394-59074039 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59068434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 16 (I16T)

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: I16T

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

SMART Domains

Protein: ENSMUSP00000104418
Gene: ENSMUSG00000043448
AA Change: I16T

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: I16T

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

SMART Domains

Protein: ENSMUSP00000104421
Gene: ENSMUSG00000043448
AA Change: I16T

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: 99.1%
3x: 98.2%
10x: 95.7%
20x: 90.6%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	A	5: 125,580,287 (GRCm39)	I204N	possibly damaging	Het
Acaca	A	G	11: 84,263,453 (GRCm39)	T2025A	probably damaging	Het
B4galt3	C	T	1: 171,103,938 (GRCm39)	R170C	probably benign	Het
BC028528	T	C	3: 95,799,271 (GRCm39)		probably null	Het
Ccdc73	A	T	2: 104,737,955 (GRCm39)	Q17L	possibly damaging	Het
Ccdc73	A	G	2: 104,745,012 (GRCm39)	T50A	possibly damaging	Het
Ccdc83	T	C	7: 89,908,677 (GRCm39)	D19G	probably damaging	Het
Ccn6	G	A	10: 39,029,239 (GRCm39)	R230W	probably damaging	Het
Cct8l1	T	C	5: 25,722,767 (GRCm39)	V494A	probably benign	Het
Chd1	T	C	17: 15,959,769 (GRCm39)	F663L	probably damaging	Het
Chn2	A	T	6: 54,270,065 (GRCm39)	E319V	probably damaging	Het
Cnnm1	T	C	19: 43,460,295 (GRCm39)	V679A	probably damaging	Het
Cntn6	C	T	6: 104,753,389 (GRCm39)	T447I	probably benign	Het
Cyp3a11	G	T	5: 145,795,581 (GRCm39)	L457I	probably benign	Het
Dera	T	A	6: 137,807,193 (GRCm39)	S214T	possibly damaging	Het
Dmtf1	A	G	5: 9,171,404 (GRCm39)	V501A	possibly damaging	Het
Dnpep	A	G	1: 75,292,671 (GRCm39)	V114A	probably damaging	Het
Dscam	C	T	16: 96,592,110 (GRCm39)	V722M	probably benign	Het
Dsp	A	G	13: 38,365,114 (GRCm39)	N499S	probably damaging	Het
Ecd	A	T	14: 20,396,725 (GRCm39)	Y53*	probably null	Het
Esyt3	T	C	9: 99,200,119 (GRCm39)	T692A	probably benign	Het
Fat1	T	A	8: 45,478,659 (GRCm39)	N2545K	probably damaging	Het
Fndc3a	A	G	14: 72,795,072 (GRCm39)		probably null	Het
Fscn3	A	G	6: 28,430,567 (GRCm39)	M246V	probably benign	Het
Gde1	G	T	7: 118,291,007 (GRCm39)	T106K	probably benign	Het
Hacd4	A	T	4: 88,341,260 (GRCm39)	M168K	probably damaging	Het
Hmx3	A	G	7: 131,145,826 (GRCm39)	E178G	probably damaging	Het
Htt	A	G	5: 34,961,171 (GRCm39)	Y266C	probably damaging	Het
Jkampl	A	T	6: 73,446,039 (GRCm39)	L170Q	probably damaging	Het
Kif27	G	T	13: 58,451,359 (GRCm39)	R990S	probably damaging	Het
Krtap22-2	A	T	16: 88,807,534 (GRCm39)	Y21*	probably null	Het
Lrrc41	T	A	4: 115,952,405 (GRCm39)	L661*	probably null	Het
Lrrc63	T	C	14: 75,363,424 (GRCm39)	T236A	probably benign	Het
Mmp13	T	C	9: 7,272,892 (GRCm39)	L84P	probably damaging	Het
Myh8	T	C	11: 67,183,551 (GRCm39)	I754T	probably benign	Het
Neb	A	C	2: 52,065,619 (GRCm39)	D5961E	probably benign	Het
Nlrx1	T	C	9: 44,175,374 (GRCm39)	H134R	probably benign	Het
Npepps	A	T	11: 97,117,673 (GRCm39)	M542K	probably benign	Het
Nup160	C	T	2: 90,509,743 (GRCm39)		probably benign	Het
Or3a1c	T	A	11: 74,045,963 (GRCm39)		probably null	Het
Or8g33	T	A	9: 39,337,888 (GRCm39)	T160S	possibly damaging	Het
Pikfyve	T	C	1: 65,302,136 (GRCm39)		probably null	Het
Ppp6r1	A	T	7: 4,643,377 (GRCm39)		probably null	Het
Prss33	A	G	17: 24,054,072 (GRCm39)	W45R	probably damaging	Het
Ptprf	A	T	4: 118,069,302 (GRCm39)	Y980*	probably null	Het
Qrich1	T	C	9: 108,436,531 (GRCm39)	V743A	probably benign	Het
Rev3l	G	A	10: 39,659,329 (GRCm39)		probably null	Het
Samd9l	A	T	6: 3,376,369 (GRCm39)	N297K	probably benign	Het
Sap130	A	G	18: 31,813,527 (GRCm39)	H528R	possibly damaging	Het
Slc9b2	T	C	3: 135,031,863 (GRCm39)	V241A	probably benign	Het
Snx14	A	T	9: 88,276,581 (GRCm39)	V577E	probably benign	Het
Srrm2	T	C	17: 24,034,876 (GRCm39)	S507P	probably benign	Het
Stat2	A	G	10: 128,117,969 (GRCm39)		probably null	Het
Susd5	T	C	9: 113,925,752 (GRCm39)	F545S	probably benign	Het
Tafa2	T	A	10: 123,429,401 (GRCm39)	M5K	possibly damaging	Het
Tnnt2	A	G	1: 135,775,764 (GRCm39)	T107A	probably benign	Het
Trappc6b	T	A	12: 59,094,953 (GRCm39)	I41F	possibly damaging	Het
Ttn	T	A	2: 76,682,417 (GRCm39)		probably benign	Het
Vmn1r88	A	C	7: 12,911,878 (GRCm39)	D78A	probably damaging	Het
Xpc	C	T	6: 91,485,510 (GRCm39)	D122N	possibly damaging	Het
Xpo1	C	T	11: 23,241,623 (GRCm39)	A890V	probably damaging	Het
Zfp493	A	G	13: 67,934,680 (GRCm39)	H211R	probably damaging	Het
Zfp958	A	T	8: 4,679,190 (GRCm39)	H405L	probably 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
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'- TCATAGCAGACGTTGTCACAACCC -3'
(R):5'- TCGGTCCCCATCTTTAGCACATAGG -3'

Sequencing Primer
(F):5'- GTTGTCACAACCCGGTTGC -3'
(R):5'- AGACCTCTGTAATGTAGTGAGC -3'

Posted On

2014-03-28