Mutagenetix > Incidental Mutation

Incidental Mutation 'R4775:F11r'

367821

Institutional Source

Beutler Lab

Gene Symbol

F11r

Ensembl Gene

ENSMUSG00000038235

Gene Name

F11 receptor

Synonyms

JAM-A, Jcam1, Ly106, BV11 antigen, ESTM33, JAM-1

MMRRC Submission

041991-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R4775 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

171265129-171292161 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 171289209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 224 (S224P)

Ref Sequence

ENSEMBL: ENSMUSP00000041907 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043839]

AlphaFold

O88792

PDB Structure

SOLUBLE PART OF THE JUNCTION ADHESION MOLECULE FROM MOUSE [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000043839
AA Change: S224P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041907
Gene: ENSMUSG00000038235
AA Change: S224P

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
IGv	44	110	9.93e-8	SMART
IGc2	143	219	1.82e-6	SMART
transmembrane domain	239	261	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144497

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155913

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is an important regulator of tight junction assembly in epithelia. In addition, the encoded protein can act as (1) a receptor for reovirus, (2) a ligand for the integrin LFA1, involved in leukocyte transmigration, and (3) a platelet receptor. Multiple 5' alternatively spliced variants, encoding the same protein, have been identified but their biological validity has not been established. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display increased dendritic cell migratory ability and contact hypersensitivity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,134,165 (GRCm39)	Y426C	probably damaging	Het
Adam7	A	G	14: 68,745,361 (GRCm39)	I621T	probably benign	Het
Adamts1	A	T	16: 85,597,278 (GRCm39)	Y260*	probably null	Het
Adgrf1	C	T	17: 43,622,054 (GRCm39)	L764F	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Atp9b	A	G	18: 80,808,984 (GRCm39)		probably null	Het
C5ar2	A	C	7: 15,971,540 (GRCm39)	L129R	probably damaging	Het
Ccdc174	G	A	6: 91,867,875 (GRCm39)		probably null	Het
Cidec	T	C	6: 113,411,695 (GRCm39)	M1V	probably null	Het
Clec16a	G	T	16: 10,456,778 (GRCm39)	R663L	probably damaging	Het
Col25a1	T	C	3: 129,976,468 (GRCm39)	C118R	possibly damaging	Het
Cox6b2	A	G	7: 4,755,074 (GRCm39)	C67R	probably damaging	Het
Cspg4b	A	T	13: 113,454,229 (GRCm39)	I92F	possibly damaging	Het
Cwf19l2	A	G	9: 3,430,973 (GRCm39)	Y435C	probably benign	Het
Dapk1	T	A	13: 60,897,156 (GRCm39)	S792T	probably benign	Het
Dis3l	T	A	9: 64,238,190 (GRCm39)	N101Y	probably benign	Het
Dsg4	A	G	18: 20,604,184 (GRCm39)	T884A	possibly damaging	Het
Dvl1	T	C	4: 155,942,584 (GRCm39)	W617R	probably benign	Het
Eml5	A	G	12: 98,768,566 (GRCm39)	V1503A	probably benign	Het
Engase	A	T	11: 118,373,497 (GRCm39)	D280V	probably benign	Het
Fanca	A	G	8: 124,023,045 (GRCm39)	V564A	probably damaging	Het
Foxj2	G	T	6: 122,810,230 (GRCm39)	Q196H	probably benign	Het
Gle1	T	C	2: 29,826,073 (GRCm39)	W51R	possibly damaging	Het
Gm94	A	G	18: 43,925,836 (GRCm39)		probably null	Het
Gm9830	A	T	9: 44,375,721 (GRCm39)		noncoding transcript	Het
Gpaa1	T	A	15: 76,218,891 (GRCm39)		probably null	Het
Grin1	C	T	2: 25,182,475 (GRCm39)	A929T	possibly damaging	Het
Grm7	T	A	6: 110,891,332 (GRCm39)	D188E	probably damaging	Het
Gtf2ird2	T	C	5: 134,242,970 (GRCm39)	F395L	probably benign	Het
Lipo3	C	A	19: 33,757,795 (GRCm39)	G225C	probably damaging	Het
Lonrf2	T	A	1: 38,857,140 (GRCm39)		probably null	Het
Marveld2	A	G	13: 100,753,303 (GRCm39)		probably benign	Het
Mpl	A	G	4: 118,305,777 (GRCm39)	L416P	probably damaging	Het
Mppe1	A	G	18: 67,359,930 (GRCm39)	L312P	possibly damaging	Het
Mpzl3	T	A	9: 44,977,730 (GRCm39)	S113T	probably damaging	Het
Mylk3	G	A	8: 86,085,689 (GRCm39)	Q149*	probably null	Het
Myt1	T	A	2: 181,464,470 (GRCm39)	I968N	probably damaging	Het
Ndc80	A	G	17: 71,821,265 (GRCm39)	Y228H	probably damaging	Het
Nelfcd	T	G	2: 174,268,369 (GRCm39)	C520G	probably damaging	Het
Nfrkb	C	A	9: 31,330,345 (GRCm39)	T1199K	possibly damaging	Het
Nipa2	A	G	7: 55,585,611 (GRCm39)	I109T	probably benign	Het
Nlrp4e	A	G	7: 23,042,525 (GRCm39)	T804A	probably benign	Het
Nsf	A	T	11: 103,763,419 (GRCm39)	I395K	possibly damaging	Het
Nt5c1b	G	A	12: 10,425,449 (GRCm39)	V331I	probably damaging	Het
Or13a28	A	T	7: 140,217,829 (GRCm39)	I72F	probably damaging	Het
Or1e29	A	G	11: 73,667,377 (GRCm39)	Y259H	probably damaging	Het
Pask	T	C	1: 93,265,246 (GRCm39)	D3G	probably damaging	Het
Pglyrp3	T	C	3: 91,933,037 (GRCm39)	V110A	possibly damaging	Het
Ppp4r3a	C	T	12: 101,019,825 (GRCm39)	V377M	probably damaging	Het
Prr12	A	G	7: 44,700,749 (GRCm39)		probably benign	Het
Ptdss1	G	A	13: 67,135,922 (GRCm39)		probably null	Het
Qser1	A	G	2: 104,620,246 (GRCm39)	S189P	probably damaging	Het
Rph3a	T	A	5: 121,092,551 (GRCm39)	Y350F	probably benign	Het
Skint4	A	T	4: 111,993,261 (GRCm39)	H328L	probably damaging	Het
Smyd4	G	A	11: 75,282,018 (GRCm39)	C497Y	probably damaging	Het
Stk11ip	T	C	1: 75,510,497 (GRCm39)	W864R	possibly damaging	Het
Stkld1	T	A	2: 26,841,757 (GRCm39)	V543E	probably damaging	Het
Taok2	A	G	7: 126,469,940 (GRCm39)	S963P	probably damaging	Het
Tars2	A	G	3: 95,653,959 (GRCm39)	L354P	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpcn2	A	G	7: 144,821,079 (GRCm39)	L325P	probably damaging	Het
Trappc3l	C	G	10: 33,974,807 (GRCm39)	H96Q	probably benign	Het
Trim66	A	T	7: 109,056,796 (GRCm39)	Y1120*	probably null	Het
Trio	G	A	15: 27,881,428 (GRCm39)	Q548*	probably null	Het
Wipf2	T	A	11: 98,781,558 (GRCm39)	D32E	probably benign	Het

Other mutations in F11r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00771:F11r	APN	1	171,290,510 (GRCm39)	critical splice donor site	probably null
IGL01431:F11r	APN	1	171,290,477 (GRCm39)	missense	probably damaging	1.00
R0481:F11r	UTSW	1	171,288,847 (GRCm39)	missense	probably benign	0.02
R0486:F11r	UTSW	1	171,288,156 (GRCm39)	missense	probably damaging	1.00
R1944:F11r	UTSW	1	171,289,459 (GRCm39)	missense	probably damaging	1.00
R1984:F11r	UTSW	1	171,289,438 (GRCm39)	missense	probably benign	0.02
R2423:F11r	UTSW	1	171,289,191 (GRCm39)	missense	possibly damaging	0.89
R3545:F11r	UTSW	1	171,288,829 (GRCm39)	missense	probably damaging	1.00
R3840:F11r	UTSW	1	171,288,457 (GRCm39)	missense	probably damaging	1.00
R3841:F11r	UTSW	1	171,288,457 (GRCm39)	missense	probably damaging	1.00
R4007:F11r	UTSW	1	171,288,916 (GRCm39)	missense	probably benign	0.35
R4744:F11r	UTSW	1	171,288,166 (GRCm39)	missense	probably benign	0.00
R6384:F11r	UTSW	1	171,288,508 (GRCm39)	missense	probably benign	0.01
R8052:F11r	UTSW	1	171,289,191 (GRCm39)	missense	possibly damaging	0.89
R8215:F11r	UTSW	1	171,290,656 (GRCm39)	makesense	probably null
R8217:F11r	UTSW	1	171,290,656 (GRCm39)	makesense	probably null
R8377:F11r	UTSW	1	171,265,111 (GRCm39)	start gained	probably benign
R8963:F11r	UTSW	1	171,288,505 (GRCm39)	missense	probably benign	0.11
R9154:F11r	UTSW	1	171,289,376 (GRCm39)	missense	probably damaging	1.00
RF063:F11r	UTSW	1	171,288,758 (GRCm39)	critical splice acceptor site	probably benign

Predicted Primers

PCR Primer
(F):5'- GTCATAAGACCCCTGAGAGTG -3'
(R):5'- AGTGTTACCAGGACAGCTGC -3'

Sequencing Primer
(F):5'- TGGGAAGAAACATCAGGGCTCTC -3'
(R):5'- AGGACAGCTGCCACGATG -3'

Posted On

2015-12-29