Mutagenetix > Incidental Mutation

Incidental Mutation 'R9117:Ccr7'

692610

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

Accession Numbers

Essential gene?

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

Stock #

R9117 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99035025-99045903 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99036086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 279 (Y279H)

Ref Sequence

ENSEMBL: ENSMUSP00000099423 (fasta)

Gene Model

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

AlphaFold

P47774

Predicted Effect

probably damaging
Transcript: ENSMUST00000103134
AA Change: Y279H

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

SMART Domains

Protein: ENSMUSP00000099423
Gene: ENSMUSG00000037944
AA Change: Y279H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (56/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	C	G	17: 36,203,963 (GRCm39)	S185T	probably benign	Het
Agfg1	T	G	1: 82,872,216 (GRCm39)	F516L	possibly damaging	Het
Akap5	T	A	12: 76,374,592 (GRCm39)	M8K	possibly damaging	Het
Aldh1l2	C	T	10: 83,342,545 (GRCm39)	V535I	probably benign	Het
Atg3	T	C	16: 45,006,564 (GRCm39)	V277A	probably damaging	Het
Bloc1s6	C	T	2: 122,588,534 (GRCm39)	P168L	probably damaging	Het
Cfap210	G	T	2: 69,612,103 (GRCm39)	S175*	probably null	Het
Clint1	A	G	11: 45,781,562 (GRCm39)	T211A	probably damaging	Het
Dchs2	T	G	3: 83,176,662 (GRCm39)	D873E	probably benign	Het
Dhx30	A	G	9: 109,926,164 (GRCm39)	L149P	probably damaging	Het
Dnah1	T	C	14: 31,033,581 (GRCm39)		probably benign	Het
Dtx1	A	G	5: 120,848,356 (GRCm39)	V8A	probably benign	Het
Enpp3	T	A	10: 24,702,078 (GRCm39)	K91N	possibly damaging	Het
Fcho1	C	T	8: 72,164,712 (GRCm39)	G523E	possibly damaging	Het
Ffar2	T	C	7: 30,518,616 (GRCm39)	E308G	probably damaging	Het
Foxb2	T	C	19: 16,850,758 (GRCm39)	K83E	unknown	Het
Git2	A	G	5: 114,887,621 (GRCm39)		probably null	Het
Gm10024	T	C	10: 77,547,339 (GRCm39)	S17P	unknown	Het
Greb1l	A	T	18: 10,542,422 (GRCm39)	Y1339F	probably benign	Het
Grhl2	T	A	15: 37,270,912 (GRCm39)	D33E	probably damaging	Het
Herc4	C	A	10: 63,126,300 (GRCm39)	L551I	probably benign	Het
Igfn1	T	A	1: 135,902,528 (GRCm39)	T390S	probably benign	Het
Ighv3-1	T	A	12: 113,928,089 (GRCm39)	H90L	probably benign	Het
Jag2	G	T	12: 112,877,279 (GRCm39)	Y697*	probably null	Het
Kif1c	T	C	11: 70,595,798 (GRCm39)	V168A	probably damaging	Het
Lipn	T	C	19: 34,046,041 (GRCm39)	W5R	probably damaging	Het
Mavs	G	A	2: 131,087,245 (GRCm39)	A248T	probably benign	Het
Megf10	G	A	18: 57,392,773 (GRCm39)	G390D	probably damaging	Het
Mib1	A	G	18: 10,793,023 (GRCm39)	H653R	probably benign	Het
Mrps9	T	G	1: 42,942,537 (GRCm39)	S332A	probably benign	Het
Muc5b	T	C	7: 141,423,070 (GRCm39)	C4498R	possibly damaging	Het
Myo15b	T	A	11: 115,778,743 (GRCm39)	I1157N	possibly damaging	Het
Myo9b	C	T	8: 71,800,451 (GRCm39)	T1002M	probably benign	Het
Nav3	T	A	10: 109,520,100 (GRCm39)	M2328L	probably benign	Het
Or5h18	T	C	16: 58,847,653 (GRCm39)	I206V	probably benign	Het
Or8b52	T	A	9: 38,577,106 (GRCm39)	E11D	probably benign	Het
Pawr	T	C	10: 108,169,140 (GRCm39)	S155P	probably damaging	Het
Pcdhb15	G	T	18: 37,608,090 (GRCm39)	V441F	probably damaging	Het
Plekhg3	A	G	12: 76,624,905 (GRCm39)	D1250G	probably benign	Het
Ptprs	T	A	17: 56,742,853 (GRCm39)	M430L	possibly damaging	Het
Raly	T	A	2: 154,703,785 (GRCm39)	S119T	probably damaging	Het
Serpinb6a	A	T	13: 34,109,412 (GRCm39)	S128T	probably benign	Het
Sirt3	C	T	7: 140,449,362 (GRCm39)		probably benign	Het
Slc22a7	A	G	17: 46,748,029 (GRCm39)	F210L	probably damaging	Het
Speg	G	T	1: 75,364,444 (GRCm39)	S275I	probably damaging	Het
Stk32c	C	T	7: 138,768,141 (GRCm39)	D47N	unknown	Het
Stra6	T	G	9: 58,059,822 (GRCm39)	S594R	probably benign	Het
Sun2	T	C	15: 79,614,517 (GRCm39)	H295R	probably benign	Het
Syne1	T	C	10: 5,053,667 (GRCm39)	Q7470R	probably damaging	Het
Syt14	A	T	1: 192,666,126 (GRCm39)	H259Q	unknown	Het
Toporsl	A	T	4: 52,609,943 (GRCm39)		probably benign	Het
Trim50	A	G	5: 135,382,537 (GRCm39)	S130G	possibly damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Wdr18	T	C	10: 79,801,154 (GRCm39)	V189A	probably benign	Het
Zfat	C	A	15: 68,058,918 (GRCm39)	A206S	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
R0707:Ccr7	UTSW	11	99,036,809 (GRCm39)	missense	probably damaging	1.00
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
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'- AGCCCAAGTCCTTGAAGAGC -3'
(R):5'- CTGAGATGCTCACTGGTCAG -3'

Sequencing Primer
(F):5'- CCCAAGTCCTTGAAGAGCTTGAAG -3'
(R):5'- AAGTGGAGGCCTTGATCACCATC -3'

Posted On

2021-12-30