Mutagenetix > Incidental Mutation

Incidental Mutation 'R5906:Gjc2'

460648

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

044103-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5906 (G1)

Quality Score

174

Status

Validated

Chromosome

Chromosomal Location

59066394-59074039 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 59067667 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 272 (V272L)

Ref Sequence

ENSEMBL: ENSMUSP00000104421 (fasta)

Gene Model

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

AlphaFold

Q8BQU6

Predicted Effect

probably benign
Transcript: ENSMUST00000108790
AA Change: V272L

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104418
Gene: ENSMUSG00000043448
AA Change: V272L

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
AA Change: V272L

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104421
Gene: ENSMUSG00000043448
AA Change: V272L

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

Meta Mutation Damage Score

0.5201

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.4%
20x: 92.4%

Validation Efficiency

95% (81/85)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	C	A	11: 58,182,260 (GRCm39)		probably null	Het
9130023H24Rik	G	A	7: 127,835,664 (GRCm39)	P310S	probably benign	Het
Abcc10	G	T	17: 46,627,485 (GRCm39)	H652Q	probably benign	Het
Actl6b	A	G	5: 137,565,591 (GRCm39)	I396V	possibly damaging	Het
Acvr1b	T	C	15: 101,091,772 (GRCm39)		probably benign	Het
Adamts18	A	T	8: 114,436,251 (GRCm39)	H989Q	probably benign	Het
Adamtsl4	T	C	3: 95,588,094 (GRCm39)	Y631C	probably damaging	Het
Angptl3	A	G	4: 98,925,804 (GRCm39)	T377A	probably benign	Het
Ankmy2	G	A	12: 36,226,632 (GRCm39)	V109M	probably damaging	Het
Anpep	G	A	7: 79,483,423 (GRCm39)	A689V	probably benign	Het
Brwd1	A	T	16: 95,859,938 (GRCm39)	M350K	probably damaging	Het
Cacna1d	C	T	14: 29,818,917 (GRCm39)	V1213I	probably damaging	Het
Capn1	A	G	19: 6,061,451 (GRCm39)	F156L	possibly damaging	Het
Catsperb	C	A	12: 101,476,721 (GRCm39)	F408L	probably damaging	Het
Ccdc146	A	T	5: 21,506,350 (GRCm39)	L697Q	possibly damaging	Het
Cdc37l1	T	A	19: 28,989,386 (GRCm39)	V281E	probably benign	Het
Chia1	A	T	3: 106,039,304 (GRCm39)	T465S	probably benign	Het
Cidec	A	T	6: 113,405,282 (GRCm39)		probably null	Het
Clcnkb	T	C	4: 141,139,610 (GRCm39)	T131A	probably benign	Het
Clec5a	T	A	6: 40,558,793 (GRCm39)	M98L	probably benign	Het
Cnga1	A	T	5: 72,768,201 (GRCm39)	F162I	probably benign	Het
Cyp27b1	A	T	10: 126,884,267 (GRCm39)	I40F	probably damaging	Het
Edrf1	A	G	7: 133,265,144 (GRCm39)	S1027G	probably benign	Het
Entpd1	C	A	19: 40,727,283 (GRCm39)	A448E	probably damaging	Het
Espl1	T	C	15: 102,205,286 (GRCm39)		probably null	Het
Etfdh	T	C	3: 79,511,422 (GRCm39)	I520V	probably damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Gabra4	G	A	5: 71,781,253 (GRCm39)	P386L	probably benign	Het
Gckr	G	T	5: 31,463,922 (GRCm39)	V281L	probably damaging	Het
Gfy	T	C	7: 44,827,167 (GRCm39)	T310A	probably benign	Het
Gm13441	G	C	2: 31,777,511 (GRCm39)		silent	Het
H2-DMb2	T	A	17: 34,367,582 (GRCm39)	M1K	probably null	Het
Hipk3	T	C	2: 104,302,153 (GRCm39)	Y13C	probably damaging	Het
Kcnt1	A	T	2: 25,784,536 (GRCm39)		probably benign	Het
Kcnt1	T	C	2: 25,788,413 (GRCm39)	F336S	probably damaging	Het
Klhdc7b	A	G	15: 89,271,359 (GRCm39)	D747G	probably benign	Het
Krt78	T	A	15: 101,857,030 (GRCm39)	E359V	probably damaging	Het
Mast4	T	C	13: 102,872,252 (GRCm39)	D2195G	probably benign	Het
Matk	C	T	10: 81,096,753 (GRCm39)	L188F	probably damaging	Het
Mcoln2	T	C	3: 145,889,496 (GRCm39)	I399T	probably damaging	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Nap1l1	A	T	10: 111,326,891 (GRCm39)	K151*	probably null	Het
Ncbp3	T	A	11: 72,964,327 (GRCm39)	S426T	probably benign	Het
Nisch	T	A	14: 30,893,985 (GRCm39)		probably null	Het
Or4k15b	T	C	14: 50,272,306 (GRCm39)	T185A	probably benign	Het
Or5b113	T	C	19: 13,342,369 (GRCm39)	C126R	probably damaging	Het
Or8a1b	A	G	9: 37,623,101 (GRCm39)	I158T	probably benign	Het
Or8b8	A	G	9: 37,809,174 (GRCm39)	H158R	probably damaging	Het
Peg3	T	C	7: 6,720,854 (GRCm39)	D17G	probably damaging	Het
Pkd1	G	A	17: 24,791,894 (GRCm39)	V1194M	probably benign	Het
Pkd1l2	A	T	8: 117,756,387 (GRCm39)	I1615N	probably damaging	Het
Pkd2	A	T	5: 104,625,045 (GRCm39)		probably null	Het
Pkp4	T	A	2: 59,135,420 (GRCm39)	N97K	possibly damaging	Het
Prrx2	C	T	2: 30,769,522 (GRCm39)	R78C	probably damaging	Het
Pycr1	T	A	11: 120,532,988 (GRCm39)	I91F	probably damaging	Het
Rap1a	T	C	3: 105,645,081 (GRCm39)	N87S	possibly damaging	Het
Sbk2	T	G	7: 4,960,627 (GRCm39)	Y181S	probably damaging	Het
Scart1	T	A	7: 139,808,712 (GRCm39)	D874E	probably damaging	Het
Sec16a	A	T	2: 26,328,843 (GRCm39)	H1057Q	possibly damaging	Het
Sfswap	G	A	5: 129,619,107 (GRCm39)	E486K	probably benign	Het
Shank3	T	C	15: 89,433,119 (GRCm39)	V1213A	probably damaging	Het
Slfn5	T	A	11: 82,848,102 (GRCm39)	I329K	probably benign	Het
Slit1	T	A	19: 41,594,813 (GRCm39)	N1186Y	probably damaging	Het
Ssbp3	A	G	4: 106,867,018 (GRCm39)		probably benign	Het
Steap3	T	A	1: 120,171,731 (GRCm39)	I125F	probably damaging	Het
Synpr	C	A	14: 13,608,788 (GRCm38)		probably benign	Het
Tom1	T	C	8: 75,776,886 (GRCm39)	L69P	probably damaging	Het
Traf3ip3	T	A	1: 192,880,314 (GRCm39)	D5V	possibly damaging	Het
Vmn1r29	G	A	6: 58,284,736 (GRCm39)	S152N	probably benign	Het
Vmn1r68	T	C	7: 10,261,550 (GRCm39)	I183V	probably benign	Het
Wdr17	C	G	8: 55,092,503 (GRCm39)	V1094L	probably benign	Het
Wdr95	A	G	5: 149,487,692 (GRCm39)	I109V	possibly damaging	Het
Zfp39	T	C	11: 58,793,717 (GRCm39)	D7G	probably benign	Het
Zfp512	A	T	5: 31,637,408 (GRCm39)	Q443L	probably damaging	Het
Zfp974	T	A	7: 27,610,230 (GRCm39)	K498N	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
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'- GCTAGGTTCGCCAAGTTCTG -3'
(R):5'- CATATTGGCTCTAGAGGAGGATGAG -3'

Sequencing Primer
(F):5'- ACCACCAGGCTGTAGTCTG -3'
(R):5'- ATGGCAAGACGGTGGTCACTC -3'

Posted On

2017-02-28