Mutagenetix > Incidental Mutation

Incidental Mutation 'R4961:Jam2'

381785

Institutional Source

Beutler Lab

Gene Symbol

Jam2

Ensembl Gene

ENSMUSG00000053062

Gene Name

junction adhesion molecule 2

Synonyms

JAM-2, 2410030G21Rik, Jcam2, 2410167M24Rik, VE-JAM

MMRRC Submission

042558-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4961 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84571011-84622816 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 84606435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 150 (Q150*)

Ref Sequence

ENSEMBL: ENSMUSP00000096007 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098407] [ENSMUST00000114195] [ENSMUST00000231910]

AlphaFold

Q9JI59

Predicted Effect

probably null
Transcript: ENSMUST00000098407
AA Change: Q150*

SMART Domains

Protein: ENSMUSP00000096007
Gene: ENSMUSG00000053062
AA Change: Q150*

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IG	36	132	7.7e-5	SMART
low complexity region	170	180	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114195

SMART Domains

Protein: ENSMUSP00000109833
Gene: ENSMUSG00000053062

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IG	36	132	7.7e-5	SMART
IGc2	147	221	1.06e-11	SMART
low complexity region	240	253	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138054

Predicted Effect

probably benign
Transcript: ENSMUST00000231910

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.3%
20x: 88.3%

Validation Efficiency

95% (62/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the immunoglobulin superfamily, and the junctional adhesion molecule (JAM) family. The protein encoded by this gene is a type I membrane protein that is localized at the tight junctions of both epithelial and endothelial cells. It acts as an adhesive ligand for interacting with a variety of immune cell types, and may play a role in lymphocyte homing to secondary lymphoid organs. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and overtly normal with no detectable spermatogenesis abnormalities or defects in embryonic, neural and hematopoietic stem cell properties. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	T	C	5: 139,349,855 (GRCm39)	K65E	probably damaging	Het
Acp5	C	A	9: 22,041,233 (GRCm39)	A65S	probably benign	Het
Adad2	G	A	8: 120,342,397 (GRCm39)	R345H	probably damaging	Het
Adamts7	G	T	9: 90,067,793 (GRCm39)	G428W	probably damaging	Het
Amy1	A	G	3: 113,355,498 (GRCm39)	S326P	probably damaging	Het
Ankrd44	C	T	1: 54,703,071 (GRCm39)	D482N	probably damaging	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Ano8	G	C	8: 71,935,640 (GRCm39)	P326R	probably damaging	Het
Arhgef26	A	G	3: 62,367,046 (GRCm39)	E793G	probably damaging	Het
Cd9	A	T	6: 125,440,703 (GRCm39)	V96E	probably damaging	Het
Cdh9	A	G	15: 16,850,914 (GRCm39)	N561S	probably benign	Het
Col16a1	G	A	4: 129,948,272 (GRCm39)		probably null	Het
Cpne7	G	A	8: 123,860,498 (GRCm39)	G484R	probably damaging	Het
Dcun1d4	A	T	5: 73,701,463 (GRCm39)	K194*	probably null	Het
Dock3	A	G	9: 106,818,515 (GRCm39)	V1193A	probably damaging	Het
Dst	A	G	1: 34,007,904 (GRCm39)	R113G	possibly damaging	Het
Epha5	A	T	5: 84,381,502 (GRCm39)	S450T	probably damaging	Het
Gm5581	A	T	6: 131,144,190 (GRCm39)		noncoding transcript	Het
Grhl3	A	G	4: 135,279,918 (GRCm39)	Y379H	probably damaging	Het
Herpud1	T	C	8: 95,117,454 (GRCm39)	S13P	probably benign	Het
Jph2	C	G	2: 163,217,668 (GRCm39)	R336P	probably damaging	Het
Kansl3	T	A	1: 36,387,764 (GRCm39)		probably null	Het
Kctd1	G	A	18: 15,195,580 (GRCm39)	P348S	probably damaging	Het
Klhl30	T	A	1: 91,285,106 (GRCm39)	S321T	possibly damaging	Het
Klhl5	T	C	5: 65,310,033 (GRCm39)		probably benign	Het
Letm2	T	C	8: 26,084,108 (GRCm39)	H41R	possibly damaging	Het
Ltn1	A	T	16: 87,194,679 (GRCm39)	C1407S	probably benign	Het
Map1b	T	C	13: 99,572,161 (GRCm39)	T187A	probably damaging	Het
Marveld2	T	C	13: 100,748,431 (GRCm39)	N216S	probably benign	Het
Matn1	A	G	4: 130,680,234 (GRCm39)	Y437C	probably damaging	Het
Oas1h	T	C	5: 121,009,159 (GRCm39)	Y290H	probably damaging	Het
Ofcc1	A	G	13: 40,417,035 (GRCm39)		probably null	Het
Or2m12	C	A	16: 19,104,726 (GRCm39)	G256W	probably damaging	Het
Or4k51	A	T	2: 111,584,750 (GRCm39)	D52V	probably damaging	Het
Or8g34	A	G	9: 39,373,183 (GRCm39)	Y152C	probably damaging	Het
Otof	C	A	5: 30,540,837 (GRCm39)		probably benign	Het
Pcdh15	G	T	10: 74,215,249 (GRCm39)		probably null	Het
Pgk2	G	A	17: 40,518,412 (GRCm39)	P339S	probably damaging	Het
Piezo2	T	C	18: 63,186,032 (GRCm39)		probably null	Het
Prex2	A	G	1: 11,168,705 (GRCm39)	T234A	possibly damaging	Het
Rasgrf1	C	T	9: 89,826,922 (GRCm39)	T177M	probably benign	Het
Rgs1	A	T	1: 144,124,309 (GRCm39)		probably null	Het
Snx25	T	C	8: 46,521,229 (GRCm39)	N239S	probably damaging	Het
Spata31d1a	T	A	13: 59,849,716 (GRCm39)	H804L	possibly damaging	Het
Spon2	A	T	5: 33,371,896 (GRCm39)	Y303*	probably null	Het
Spopfm2	A	T	3: 94,082,841 (GRCm39)	C323*	probably null	Het
Thrb	G	A	14: 18,011,076 (GRCm38)	D151N	probably benign	Het
Tns1	A	G	1: 73,975,074 (GRCm39)	V1170A	probably benign	Het
Trbv19	A	T	6: 41,155,706 (GRCm39)	I26F	probably damaging	Het
Tstd2	T	C	4: 46,120,467 (GRCm39)	N311S	probably damaging	Het
Ttn	T	A	2: 76,715,746 (GRCm39)		probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Vmn1r185	G	A	7: 26,310,716 (GRCm39)	A263V	probably benign	Het
Zfp316	T	C	5: 143,239,169 (GRCm39)	H950R	probably damaging	Het
Zfp51	A	G	17: 21,676,615 (GRCm39)	K29E	probably benign	Het
Zfp644	T	C	5: 106,766,081 (GRCm39)		probably benign	Het

Other mutations in Jam2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00568:Jam2	APN	16	84,619,712 (GRCm39)	utr 3 prime	probably benign
IGL00805:Jam2	APN	16	84,612,054 (GRCm39)	splice site	probably benign
R0834:Jam2	UTSW	16	84,609,855 (GRCm39)	missense	probably damaging	1.00
R1188:Jam2	UTSW	16	84,603,755 (GRCm39)	missense	probably damaging	0.99
R4230:Jam2	UTSW	16	84,618,180 (GRCm39)	missense	possibly damaging	0.92
R4323:Jam2	UTSW	16	84,619,744 (GRCm39)	utr 3 prime	probably benign
R4659:Jam2	UTSW	16	84,609,840 (GRCm39)	missense	probably damaging	0.96
R4660:Jam2	UTSW	16	84,609,840 (GRCm39)	missense	probably damaging	0.96
R4662:Jam2	UTSW	16	84,609,840 (GRCm39)	missense	probably damaging	0.96
R4679:Jam2	UTSW	16	84,609,840 (GRCm39)	missense	probably damaging	0.96
R4741:Jam2	UTSW	16	84,609,840 (GRCm39)	missense	probably damaging	0.96
R4856:Jam2	UTSW	16	84,598,490 (GRCm39)	missense	probably benign	0.39
R4929:Jam2	UTSW	16	84,619,750 (GRCm39)	utr 3 prime	probably benign
R5915:Jam2	UTSW	16	84,606,295 (GRCm39)	missense	probably benign	0.01
R7779:Jam2	UTSW	16	84,606,271 (GRCm39)	missense	probably damaging	1.00
R8790:Jam2	UTSW	16	84,606,259 (GRCm39)	missense	possibly damaging	0.87
R9488:Jam2	UTSW	16	84,619,676 (GRCm39)	missense	probably damaging	1.00
R9640:Jam2	UTSW	16	84,609,960 (GRCm39)	missense	probably benign	0.12
R9785:Jam2	UTSW	16	84,571,397 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AAAGACCGTGCTGAGATGATAGATTTC -3'
(R):5'- CCACACAACATGGTGGCTTTAATG -3'

Sequencing Primer
(F):5'- GTATCGCTGTGAAGTCAG -3'
(R):5'- TCTGAACCACCATGTAGATGCTGG -3'

Posted On

2016-04-27