Mutagenetix > Incidental Mutation

Incidental Mutation 'R2197:Gjb5'

238403

Institutional Source

Beutler Lab

Gene Symbol

Gjb5

Ensembl Gene

ENSMUSG00000042357

Gene Name

gap junction protein, beta 5

Synonyms

Cnx31.1, Cx31.1, Gjb-5, connexin 31.1

MMRRC Submission

040199-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R2197 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127248600-127251957 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 127250063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101696 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046498] [ENSMUST00000060419] [ENSMUST00000106090]

AlphaFold

Q02739

Predicted Effect

probably damaging
Transcript: ENSMUST00000046498
AA Change: L27Q

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000045325
Gene: ENSMUSG00000042357
AA Change: L27Q

Domain	Start	End	E-Value	Type
low complexity region	25	38	N/A	INTRINSIC
CNX	42	75	1.99e-19	SMART
Connexin_CCC	139	206	1.42e-33	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000060419

SMART Domains

Protein: ENSMUSP00000053307
Gene: ENSMUSG00000046623

Domain	Start	End	E-Value	Type
low complexity region	27	38	N/A	INTRINSIC
CNX	42	75	9.16e-19	SMART
low complexity region	98	103	N/A	INTRINSIC
Connexin_CCC	141	208	6.28e-35	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000106090

SMART Domains

Protein: ENSMUSP00000101696
Gene: ENSMUSG00000046623

Domain	Start	End	E-Value	Type
low complexity region	27	38	N/A	INTRINSIC
CNX	42	75	9.16e-19	SMART
low complexity region	98	103	N/A	INTRINSIC
Connexin_CCC	141	208	6.28e-35	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the beta-type (group I) connexin family. The encoded protein is a gap junction protein involved in intercellular communication related to epidermal differentiation and environmental sensing. This gene has been linked to non-small cell lung cancer. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit some embryonic lethality, reduced weight and reduced placental development. [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
Adam11	A	T	11: 102,660,750 (GRCm39)	I94F	possibly damaging	Het
Ankrd50	A	T	3: 38,509,741 (GRCm39)	D875E	probably damaging	Het
Arf3	T	C	15: 98,639,285 (GRCm39)	N60S	probably benign	Het
Atxn2	T	G	5: 121,944,280 (GRCm39)		probably null	Het
B3gnt8	A	T	7: 25,328,373 (GRCm39)	I268F	probably benign	Het
Bmp1	T	A	14: 70,723,712 (GRCm39)	D708V	possibly damaging	Het
C1s2	A	G	6: 124,609,069 (GRCm39)	S163P	probably damaging	Het
C3	A	G	17: 57,526,623 (GRCm39)	I786T	probably benign	Het
Cacna2d2	T	A	9: 107,404,602 (GRCm39)	L1138Q	probably damaging	Het
Cage1	T	A	13: 38,207,029 (GRCm39)	Y272F	probably damaging	Het
Cd300ld	A	T	11: 114,875,058 (GRCm39)	M192K	possibly damaging	Het
Cdc5l	A	T	17: 45,718,745 (GRCm39)	F624I	probably benign	Het
Cdh8	T	A	8: 99,922,897 (GRCm39)	Q333L	probably damaging	Het
Ciapin1	T	A	8: 95,555,787 (GRCm39)	K128*	probably null	Het
Col6a3	T	A	1: 90,731,467 (GRCm39)	E988D	probably benign	Het
Crip3	A	G	17: 46,740,338 (GRCm39)	E46G	probably damaging	Het
D5Ertd579e	A	G	5: 36,772,137 (GRCm39)	S753P	possibly damaging	Het
Dock6	T	A	9: 21,744,177 (GRCm39)	D126V	probably damaging	Het
Duxf4	T	A	10: 58,072,158 (GRCm39)	I19F	possibly damaging	Het
Dvl3	A	G	16: 20,342,506 (GRCm39)	E153G	probably damaging	Het
Epas1	A	T	17: 87,136,471 (GRCm39)	M748L	probably benign	Het
Exoc8	A	G	8: 125,622,477 (GRCm39)	L630P	probably damaging	Het
Fam227a	G	A	15: 79,507,668 (GRCm39)	T454M	probably damaging	Het
Flnc	A	T	6: 29,459,134 (GRCm39)	D2472V	probably damaging	Het
Galnt4	G	A	10: 98,944,509 (GRCm39)	G78E	probably damaging	Het
Ghr	A	T	15: 3,362,956 (GRCm39)	L172*	probably null	Het
Hdac5	T	C	11: 102,095,340 (GRCm39)	D427G	probably damaging	Het
Hsd17b4	G	A	18: 50,316,369 (GRCm39)		probably null	Het
Kcnab1	T	C	3: 65,017,368 (GRCm39)	I59T	probably benign	Het
Kcnh7	A	G	2: 62,607,950 (GRCm39)	Y544H	probably damaging	Het
Kdm7a	A	G	6: 39,123,870 (GRCm39)	S765P	probably damaging	Het
Lama1	A	T	17: 68,059,936 (GRCm39)	H675L	probably benign	Het
Lemd3	CCCTCCTCCTCCTCCTCCTCC	CCCTCCTCCTCCTCCTCC	10: 120,814,432 (GRCm39)		probably benign	Het
Llgl1	T	C	11: 60,600,865 (GRCm39)	S654P	possibly damaging	Het
Lvrn	G	T	18: 47,011,409 (GRCm39)	M455I	probably benign	Het
Mfsd12	T	A	10: 81,193,568 (GRCm39)	L46Q	probably damaging	Het
Mtcl1	A	T	17: 66,673,427 (GRCm39)	M783K	probably benign	Het
Mthfd1l	A	T	10: 3,978,399 (GRCm39)	T420S	probably damaging	Het
Mybphl	T	A	3: 108,284,635 (GRCm39)	I294N	probably damaging	Het
Or4c52	G	A	2: 89,845,768 (GRCm39)	G165S	probably damaging	Het
Or4f14b	T	C	2: 111,775,658 (GRCm39)	T48A	possibly damaging	Het
Or52ab7	T	A	7: 102,977,831 (GRCm39)	L46*	probably null	Het
Oxa1l	A	T	14: 54,598,924 (GRCm39)	Q70L	probably benign	Het
Pcdhac2	A	T	18: 37,279,185 (GRCm39)	I722F	probably damaging	Het
Pde4d	A	G	13: 110,084,924 (GRCm39)	D460G	probably damaging	Het
Pth1r	CGGG	CGGGGGG	9: 110,556,058 (GRCm39)		probably benign	Het
Rab11fip3	A	G	17: 26,287,152 (GRCm39)	S334P	probably benign	Het
Ror2	C	T	13: 53,439,816 (GRCm39)		probably null	Het
Scnn1g	G	C	7: 121,366,519 (GRCm39)	W572S	probably damaging	Het
Skint5	G	A	4: 113,798,046 (GRCm39)	S179L	probably damaging	Het
Slc22a2	G	T	17: 12,817,949 (GRCm39)	G175V	probably damaging	Het
Spaca6	G	A	17: 18,056,416 (GRCm39)		probably null	Het
Tbc1d30	C	T	10: 121,140,312 (GRCm39)	R207H	probably damaging	Het
Tdrd5	A	G	1: 156,087,435 (GRCm39)	I829T	probably benign	Het
Tmcc3	T	C	10: 94,414,780 (GRCm39)	S161P	probably damaging	Het
Tmem150b	A	G	7: 4,719,353 (GRCm39)	V189A	probably benign	Het
Tmem248	A	G	5: 130,260,597 (GRCm39)	D54G	probably benign	Het
Trmt1	T	A	8: 85,417,487 (GRCm39)	S121T	probably damaging	Het
Tyk2	C	T	9: 21,026,503 (GRCm39)	V698M	probably damaging	Het
Usp17la	A	G	7: 104,509,919 (GRCm39)	R175G	probably damaging	Het
Vav1	A	G	17: 57,610,140 (GRCm39)	N464S	probably benign	Het
Vmn2r57	T	G	7: 41,078,249 (GRCm39)		probably null	Het
Vmn2r78	A	G	7: 86,570,535 (GRCm39)	Y351C	probably damaging	Het

Other mutations in Gjb5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02814:Gjb5	APN	4	127,249,355 (GRCm39)	missense	probably benign	0.03
IGL03376:Gjb5	APN	4	127,250,048 (GRCm39)	missense	probably damaging	1.00
PIT4508001:Gjb5	UTSW	4	127,250,033 (GRCm39)	missense	probably damaging	0.99
R2090:Gjb5	UTSW	4	127,249,794 (GRCm39)	missense	probably benign	0.01
R4968:Gjb5	UTSW	4	127,250,015 (GRCm39)	missense	probably damaging	1.00
R5419:Gjb5	UTSW	4	127,249,652 (GRCm39)	missense	probably benign
R5494:Gjb5	UTSW	4	127,249,347 (GRCm39)	missense	probably damaging	0.99
R5664:Gjb5	UTSW	4	127,249,722 (GRCm39)	missense	probably benign	0.00
R5806:Gjb5	UTSW	4	127,249,718 (GRCm39)	missense	probably benign
R6369:Gjb5	UTSW	4	127,249,723 (GRCm39)	missense	possibly damaging	0.58
R6408:Gjb5	UTSW	4	127,249,940 (GRCm39)	missense	probably benign	0.24
R7747:Gjb5	UTSW	4	127,249,955 (GRCm39)	missense	probably damaging	1.00
R8488:Gjb5	UTSW	4	127,250,078 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCGGGTAAAGGTAACCTTCAC -3'
(R):5'- ACATCTCTGTGAAGTTCTCAAGC -3'

Sequencing Primer
(F):5'- TTCGATAGGCCACATGCATG -3'
(R):5'- CTGTGAAGTTCTCAAGCTGAGCAC -3'

Posted On

2014-10-02