Mutagenetix > Incidental Mutation

Incidental Mutation 'R8052:F11r'

619083

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

067489-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R8052 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

171265129-171292161 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 171289191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 218 (Y218N)

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

possibly damaging
Transcript: ENSMUST00000043839
AA Change: Y218N

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000041907
Gene: ENSMUSG00000038235
AA Change: Y218N

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	T	C	2: 22,843,555 (GRCm39)	T297A	probably benign	Het
Acadl	G	T	1: 66,892,337 (GRCm39)	T162K	probably benign	Het
Aldoart2	A	T	12: 55,612,536 (GRCm39)	I154F	probably damaging	Het
Alkbh8	G	A	9: 3,385,478 (GRCm39)	R625H	probably damaging	Het
Ankrd31	T	A	13: 96,969,036 (GRCm39)	V891E	probably benign	Het
Aopep	G	A	13: 63,216,065 (GRCm39)	V446I	probably damaging	Het
Atp8b5	C	T	4: 43,356,982 (GRCm39)	R577*	probably null	Het
Capn3	G	T	2: 120,316,867 (GRCm39)	E285D	probably benign	Het
Cd79b	G	T	11: 106,204,526 (GRCm39)	P87T	probably damaging	Het
Celsr2	T	G	3: 108,319,971 (GRCm39)	D947A	probably damaging	Het
Csmd3	A	C	15: 47,569,783 (GRCm39)	S1213R		Het
Cyp2j5	T	C	4: 96,552,241 (GRCm39)	M3V	probably benign	Het
Ddi1	C	T	9: 6,265,787 (GRCm39)	R194K	probably benign	Het
Decr1	T	C	4: 15,933,019 (GRCm39)	K49R	probably benign	Het
Dnah10	A	C	5: 124,905,575 (GRCm39)	E4130A	probably benign	Het
Dst	A	G	1: 34,323,444 (GRCm39)	D4648G	probably damaging	Het
Ecd	A	G	14: 20,380,020 (GRCm39)		probably null	Het
Erbin	A	T	13: 103,970,864 (GRCm39)	Y917*	probably null	Het
Evpl	T	C	11: 116,113,989 (GRCm39)	K1234E	probably benign	Het
Fam43a	C	G	16: 30,420,622 (GRCm39)	T402S	probably benign	Het
Frem2	T	C	3: 53,457,064 (GRCm39)	N2096S	probably benign	Het
Gpd2	T	A	2: 57,196,962 (GRCm39)	Y172*	probably null	Het
Hscb	A	G	5: 110,983,844 (GRCm39)	V90A	probably benign	Het
Iqgap2	T	C	13: 95,794,387 (GRCm39)	D1195G	probably damaging	Het
Map2k2	T	C	10: 80,950,900 (GRCm39)	I115T	probably damaging	Het
Mast2	C	T	4: 116,170,172 (GRCm39)	R707H	probably damaging	Het
Mindy4	A	G	6: 55,277,977 (GRCm39)	N607S	probably damaging	Het
Mrpl9	T	A	3: 94,351,050 (GRCm39)	Y77N	probably damaging	Het
Muc16	G	A	9: 18,570,347 (GRCm39)	T724I	unknown	Het
Nat3	A	T	8: 68,000,478 (GRCm39)	Y119F	possibly damaging	Het
Nol7	T	C	13: 43,554,990 (GRCm39)	S208P	probably damaging	Het
Notch3	A	T	17: 32,365,545 (GRCm39)	C1056S	probably damaging	Het
Nup50l	TCC	TCCGCC	6: 96,142,078 (GRCm39)		probably benign	Het
Nup50l	TCC	TCCCCC	6: 96,142,084 (GRCm39)		probably benign	Het
Or13j1	A	T	4: 43,705,884 (GRCm39)	V228E	probably damaging	Het
Or3a4	T	A	11: 73,945,301 (GRCm39)	I95F	probably benign	Het
Or5al5	A	T	2: 85,961,721 (GRCm39)	Y95*	probably null	Het
Or8g17	G	T	9: 38,930,783 (GRCm39)	T18K	probably damaging	Het
Osbpl3	A	C	6: 50,322,995 (GRCm39)	L288R	probably damaging	Het
Oscp1	A	C	4: 125,982,116 (GRCm39)	D352A	possibly damaging	Het
Pcdh9	G	A	14: 94,123,222 (GRCm39)	R983C	probably benign	Het
Pcdhgb8	T	C	18: 37,896,555 (GRCm39)	S542P	probably benign	Het
Pi4ka	T	C	16: 17,174,030 (GRCm39)	T490A		Het
Pkd1l1	A	T	11: 8,897,315 (GRCm39)	D531E		Het
Potefam3d	A	T	8: 69,975,404 (GRCm39)	Y21N	possibly damaging	Het
Prr3	G	T	17: 36,290,053 (GRCm39)	D26E	possibly damaging	Het
Psmd8	T	C	7: 28,880,001 (GRCm39)	K24E	probably benign	Het
Rasgrp4	G	A	7: 28,849,362 (GRCm39)	C583Y	probably damaging	Het
Rest	A	G	5: 77,416,171 (GRCm39)	I128M	probably benign	Het
Rftn1	A	T	17: 50,393,607 (GRCm39)	F144I	probably damaging	Het
Rusc2	T	C	4: 43,421,851 (GRCm39)	F757S	probably benign	Het
Ryr1	A	G	7: 28,782,810 (GRCm39)	S1942P	probably benign	Het
Sdk2	C	T	11: 113,745,177 (GRCm39)	R706Q	probably damaging	Het
Sergef	G	T	7: 46,264,062 (GRCm39)	T275K	probably damaging	Het
Serpina10	T	C	12: 103,594,569 (GRCm39)	T217A	probably damaging	Het
Shd	G	C	17: 56,283,235 (GRCm39)	S288T	probably damaging	Het
Siglec15	C	A	18: 78,091,803 (GRCm39)	A133S	possibly damaging	Het
Stat4	C	T	1: 52,118,932 (GRCm39)	P325L	probably damaging	Het
Syt8	G	A	7: 141,993,881 (GRCm39)	G344D	probably damaging	Het
Tes	A	G	6: 17,097,291 (GRCm39)	E133G	probably benign	Het
Tmprss2	T	C	16: 97,369,616 (GRCm39)	Y386C	probably damaging	Het
Tnfrsf11b	A	T	15: 54,115,502 (GRCm39)	L365Q	probably damaging	Het
Tns1	T	A	1: 73,992,596 (GRCm39)	D67V	probably damaging	Het
Tns2	T	C	15: 102,021,280 (GRCm39)	S982P	probably damaging	Het
Tpcn2	A	T	7: 144,814,683 (GRCm39)	F473I	probably benign	Het
Tsg101	A	T	7: 46,542,257 (GRCm39)	I232N	probably damaging	Het
Ttc3	T	C	16: 94,268,848 (GRCm39)	S1977P	probably benign	Het
Ttll11	T	A	2: 35,869,527 (GRCm39)	E37V	unknown	Het
Ttn	A	T	2: 76,649,160 (GRCm39)	V12716E	possibly damaging	Het
Vmn2r70	A	C	7: 85,212,923 (GRCm39)	S495A	probably benign	Het
Zfp974	A	G	7: 27,610,697 (GRCm39)	C343R	probably damaging	Het
Zfy1	A	T	Y: 726,004 (GRCm39)	I587N	possibly damaging	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
R4775:F11r	UTSW	1	171,289,209 (GRCm39)	missense	probably damaging	1.00
R6384:F11r	UTSW	1	171,288,508 (GRCm39)	missense	probably benign	0.01
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'- TCATAAGACCCCTGAGAGTGG -3'
(R):5'- CAGTGTTACCAGGACAGCTG -3'

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

Posted On

2020-01-23