Mutagenetix > Incidental Mutation

Incidental Mutation 'R0707:Ccr7'

63183

Institutional Source

Beutler Lab

Gene Symbol

Ccr7

Ensembl Gene

ENSMUSG00000037944

Gene Name

C-C motif chemokine receptor 7

Synonyms

EBI1, CD197, Cmkbr7, Ebi1h

MMRRC Submission

038890-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.259) question?

Stock #

R0707 (G1)

Quality Score

112

Status

Validated

Chromosome

Chromosomal Location

99035025-99045903 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 99036809 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 38 (T38S)

Ref Sequence

ENSEMBL: ENSMUSP00000099423 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103134]

AlphaFold

P47774

Predicted Effect

probably damaging
Transcript: ENSMUST00000103134
AA Change: T38S

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

SMART Domains

Protein: ENSMUSP00000099423
Gene: ENSMUSG00000037944
AA Change: T38S

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:7tm_1	75	326	1.8e-49	PFAM

Meta Mutation Damage Score

0.1177

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

100% (74/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the G protein-coupled receptor family. This receptor was identified as a gene induced by the Epstein-Barr virus (EBV), and is thought to be a mediator of EBV effects on B lymphocytes. This receptor is expressed in various lymphoid tissues and activates B and T lymphocytes. It has been shown to control the migration of memory T cells to inflamed tissues, as well as stimulate dendritic cell maturation. The chemokine (C-C motif) ligand 19 (CCL19/ECL) has been reported to be a specific ligand of this receptor. Signals mediated by this receptor regulate T cell homeostasis in lymph nodes, and may also function in the activation and polarization of T cells, and in chronic inflammation pathogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygous mice exhibit an impaired primary immune response. Dendritic cells, B, T and T regulatory cells show impaired migration to the lymph nodes and secondary lymph organs exhibit morphological abnormalities. Lymphocytic infiltrates to the pancreas, lung and stomach are observed in aged mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	A	G	4: 106,617,329 (GRCm39)	F259S	probably damaging	Het
Aldh16a1	T	A	7: 44,793,931 (GRCm39)		probably benign	Het
Ankrd24	A	T	10: 81,478,547 (GRCm39)		probably benign	Het
Arhgap5	T	C	12: 52,564,951 (GRCm39)	S641P	probably damaging	Het
Arpp21	A	C	9: 111,986,824 (GRCm39)	S242R	probably benign	Het
Bpifb5	A	G	2: 154,070,820 (GRCm39)	T204A	probably benign	Het
Bud31	A	G	5: 145,083,265 (GRCm39)	Y77C	probably damaging	Het
Ccdc65	G	A	15: 98,607,095 (GRCm39)	V101I	possibly damaging	Het
Cdc14a	T	C	3: 116,087,362 (GRCm39)		probably benign	Het
Ces2f	C	T	8: 105,677,618 (GRCm39)	H208Y	possibly damaging	Het
Chst1	C	A	2: 92,443,964 (GRCm39)	N145K	possibly damaging	Het
Clock	A	G	5: 76,374,976 (GRCm39)	V731A	possibly damaging	Het
Cog6	C	T	3: 52,921,283 (GRCm39)	V108I	possibly damaging	Het
Cplane1	T	A	15: 8,287,805 (GRCm39)	N2881K	unknown	Het
Crtc2	T	A	3: 90,170,804 (GRCm39)	F626I	probably damaging	Het
Dicer1	A	T	12: 104,673,144 (GRCm39)	F792I	probably damaging	Het
Dnajc13	T	C	9: 104,049,781 (GRCm39)	K1780R	probably benign	Het
Dph5	A	C	3: 115,708,782 (GRCm39)	N155H	probably benign	Het
Dscam	T	C	16: 96,626,982 (GRCm39)		probably null	Het
Etl4	C	A	2: 20,810,382 (GRCm39)		probably benign	Het
Flt3l	T	C	7: 44,785,450 (GRCm39)	S9G	probably benign	Het
Fmnl2	A	G	2: 52,944,498 (GRCm39)	E159G	possibly damaging	Het
Fryl	A	G	5: 73,240,715 (GRCm39)	I1295T	probably benign	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Gatad2b	T	A	3: 90,263,489 (GRCm39)	S529T	probably benign	Het
Herc6	G	A	6: 57,639,347 (GRCm39)	G905E	possibly damaging	Het
Hhip	T	A	8: 80,724,884 (GRCm39)	N296I	probably damaging	Het
Hmgcr	A	T	13: 96,787,151 (GRCm39)		probably benign	Het
Kalrn	T	G	16: 33,830,951 (GRCm39)	N723H	possibly damaging	Het
Mroh5	T	A	15: 73,662,588 (GRCm39)	Y242F	possibly damaging	Het
Msh3	T	A	13: 92,483,848 (GRCm39)	K258*	probably null	Het
Myo1a	T	C	10: 127,555,732 (GRCm39)		probably benign	Het
Nlrp4f	C	T	13: 65,342,317 (GRCm39)	E443K	probably benign	Het
Nupr2	A	G	5: 129,937,533 (GRCm39)	Y34C	probably damaging	Het
Ociad1	T	C	5: 73,452,255 (GRCm39)		probably benign	Het
Or1af1	A	T	2: 37,110,208 (GRCm39)	K236*	probably null	Het
Or5af2	T	A	11: 58,708,577 (GRCm39)	L248M	probably damaging	Het
Or5b3	A	T	19: 13,388,784 (GRCm39)	M284L	probably benign	Het
Or5p5	A	G	7: 107,414,331 (GRCm39)	D182G	probably damaging	Het
Or6ae1	T	C	7: 139,742,002 (GRCm39)	N287S	probably damaging	Het
P2ry12	C	A	3: 59,124,908 (GRCm39)	V256F	probably damaging	Het
Pcdhb22	T	A	18: 37,651,904 (GRCm39)	I124N	probably damaging	Het
Pcnt	A	G	10: 76,256,375 (GRCm39)	F622L	probably damaging	Het
Pfas	A	T	11: 68,888,863 (GRCm39)	N361K	probably benign	Het
Plod2	T	G	9: 92,487,480 (GRCm39)	L600V	possibly damaging	Het
Pole	T	C	5: 110,446,854 (GRCm39)	Y631H	probably damaging	Het
Proser1	T	C	3: 53,386,197 (GRCm39)	L693P	probably damaging	Het
Ptprd	A	G	4: 75,875,476 (GRCm39)	Y1195H	probably damaging	Het
Rbm27	T	A	18: 42,459,091 (GRCm39)		probably null	Het
Ric8a	A	G	7: 140,437,886 (GRCm39)		probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rimkla	C	T	4: 119,335,177 (GRCm39)	V69M	probably damaging	Het
Scfd1	A	T	12: 51,459,360 (GRCm39)	K307M	probably damaging	Het
Sh2b2	A	G	5: 136,261,117 (GRCm39)	F33S	probably damaging	Het
Smg7	T	G	1: 152,746,508 (GRCm39)		probably null	Het
Srebf1	T	C	11: 60,094,942 (GRCm39)	T486A	probably benign	Het
Strn3	G	A	12: 51,657,187 (GRCm39)	T642I	probably damaging	Het
Syne2	T	C	12: 76,028,837 (GRCm39)		probably null	Het
Syne3	A	G	12: 104,935,619 (GRCm39)	L53P	probably damaging	Het
Tcea1	T	A	1: 4,950,569 (GRCm39)		probably benign	Het
Tmem30b	T	C	12: 73,592,942 (GRCm39)	N58D	probably benign	Het
Tnpo1	A	G	13: 98,991,954 (GRCm39)	Y641H	probably damaging	Het
Trim25	A	T	11: 88,890,564 (GRCm39)	T84S	probably benign	Het
Trip4	A	T	9: 65,746,286 (GRCm39)	F537I	possibly damaging	Het
Uaca	G	A	9: 60,755,900 (GRCm39)		probably benign	Het
Ugt2b34	T	A	5: 87,040,758 (GRCm39)	Y388F	possibly damaging	Het
Vmn2r71	T	C	7: 85,268,640 (GRCm39)	V281A	probably benign	Het
Vps13d	A	T	4: 144,882,502 (GRCm39)	D1030E	probably damaging	Het
Vps8	C	A	16: 21,261,107 (GRCm39)	F82L	probably damaging	Het
Zfp296	A	G	7: 19,313,661 (GRCm39)	D172G	probably benign	Het
Zfp977	C	A	7: 42,229,958 (GRCm39)	C189F	probably damaging	Het

Other mutations in Ccr7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01600:Ccr7	APN	11	99,035,971 (GRCm39)	missense	probably benign	0.45
Kongtong	UTSW	11	99,036,489 (GRCm39)	missense	probably damaging	1.00
lanzhou	UTSW	11	99,036,103 (GRCm39)	missense	possibly damaging	0.90
qinghai	UTSW	11	99,036,649 (GRCm39)	missense	probably damaging	1.00
IGL03047:Ccr7	UTSW	11	99,036,160 (GRCm39)	missense	probably benign	0.44
R1115:Ccr7	UTSW	11	99,036,103 (GRCm39)	missense	possibly damaging	0.90
R1664:Ccr7	UTSW	11	99,036,517 (GRCm39)	missense	possibly damaging	0.90
R2291:Ccr7	UTSW	11	99,036,161 (GRCm39)	missense	probably damaging	1.00
R3743:Ccr7	UTSW	11	99,036,033 (GRCm39)	missense	possibly damaging	0.86
R4108:Ccr7	UTSW	11	99,036,204 (GRCm39)	missense	probably damaging	1.00
R4214:Ccr7	UTSW	11	99,035,872 (GRCm39)	missense	probably damaging	0.98
R5402:Ccr7	UTSW	11	99,036,560 (GRCm39)	missense	possibly damaging	0.93
R5602:Ccr7	UTSW	11	99,036,315 (GRCm39)	missense	probably benign	0.08
R6275:Ccr7	UTSW	11	99,036,489 (GRCm39)	missense	probably damaging	1.00
R6991:Ccr7	UTSW	11	99,036,130 (GRCm39)	missense	probably damaging	1.00
R7470:Ccr7	UTSW	11	99,036,383 (GRCm39)	missense	possibly damaging	0.80
R7549:Ccr7	UTSW	11	99,036,727 (GRCm39)	missense	probably damaging	1.00
R8973:Ccr7	UTSW	11	99,036,649 (GRCm39)	missense	probably damaging	1.00
R9117:Ccr7	UTSW	11	99,036,086 (GRCm39)	missense	probably damaging	1.00
R9206:Ccr7	UTSW	11	99,039,895 (GRCm39)	missense	probably benign
R9631:Ccr7	UTSW	11	99,036,616 (GRCm39)	missense	probably benign	0.01
Z1176:Ccr7	UTSW	11	99,035,806 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCATCCCGCTGAAGAAGCTTAAC -3'
(R):5'- ACCCAAAGGGTCTAAGGTCTGAGAG -3'

Sequencing Primer
(F):5'- AAGATCCAGGACTTGGCTTC -3'
(R):5'- gtctaaggtctgagagtctgc -3'

Posted On

2013-07-30