Mutagenetix > Incidental Mutation

Incidental Mutation 'R6612:Cxcr6'

523686

Institutional Source

Beutler Lab

Gene Symbol

Cxcr6

Ensembl Gene

ENSMUSG00000048521

Gene Name

C-X-C motif chemokine receptor 6

Synonyms

STRL33, BONZO

MMRRC Submission

044735-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6612 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123635542-123640819 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 123639785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 262 (I262N)

Ref Sequence

ENSEMBL: ENSMUSP00000060776 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049810] [ENSMUST00000084715] [ENSMUST00000167595] [ENSMUST00000216072]

AlphaFold

Q9EQ16

Predicted Effect

probably damaging
Transcript: ENSMUST00000049810
AA Change: I262N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000060776
Gene: ENSMUSG00000048521
AA Change: I262N

Domain	Start	End	E-Value	Type
Pfam:7tm_1	57	297	5.2e-43	PFAM
low complexity region	324	334	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000084715

SMART Domains

Protein: ENSMUSP00000081764
Gene: ENSMUSG00000025241

Domain	Start	End	E-Value	Type
Pfam:RUN	19	167	4.7e-12	PFAM
low complexity region	196	206	N/A	INTRINSIC
coiled coil region	223	270	N/A	INTRINSIC
coiled coil region	348	1110	N/A	INTRINSIC
FYVE	1124	1191	2.69e-16	SMART
PDB:1OLM\|E	1343	1428	1e-5	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000167595

SMART Domains

Protein: ENSMUSP00000133222
Gene: ENSMUSG00000025241

Domain	Start	End	E-Value	Type
Pfam:RUN	20	167	7.8e-12	PFAM
low complexity region	196	206	N/A	INTRINSIC
coiled coil region	223	270	N/A	INTRINSIC
coiled coil region	348	1110	N/A	INTRINSIC
FYVE	1124	1191	2.69e-16	SMART
PDB:1OLM\|E	1343	1428	1e-5	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216072
AA Change: I269N

PolyPhen 2 Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.4%

Validation Efficiency

95% (59/62)

MGI Phenotype

PHENOTYPE: A small percentage of mice that are heterozygous or homozygous for a knock-out allele develop medulloblastomas in the cerebellum after 12 months of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	A	C	1: 159,902,804 (GRCm39)	N25H	probably damaging	Het
Akr1c14	A	T	13: 4,115,331 (GRCm39)	S87C	probably benign	Het
Arhgef37	T	C	18: 61,627,952 (GRCm39)	T664A	probably benign	Het
Arsi	A	G	18: 61,045,528 (GRCm39)	T73A	probably benign	Het
Cacnb2	A	T	2: 14,979,960 (GRCm39)	T274S	probably benign	Het
Cd244a	A	G	1: 171,401,672 (GRCm39)	T133A	probably benign	Het
Cep20	TTGTG	TTG	16: 14,118,009 (GRCm39)		probably null	Het
Ciz1	T	A	2: 32,267,323 (GRCm39)	S720T	possibly damaging	Het
Cyp2a4	T	A	7: 26,008,072 (GRCm39)	F160I	probably benign	Het
Esrra	T	C	19: 6,889,220 (GRCm39)	T390A	probably benign	Het
Gm17079	T	A	14: 51,931,833 (GRCm39)	Q91L	possibly damaging	Het
Gm17079	C	A	14: 51,931,832 (GRCm39)	Q91H	probably damaging	Het
Got1	A	G	19: 43,493,242 (GRCm39)	S256P	probably damaging	Het
Gria4	C	T	9: 4,472,206 (GRCm39)	V428I	possibly damaging	Het
Grin2b	A	G	6: 135,717,996 (GRCm39)	Y699H	probably damaging	Het
Hipk2	T	C	6: 38,795,808 (GRCm39)	I154V	probably benign	Het
Hkdc1	T	C	10: 62,231,220 (GRCm39)	E628G	possibly damaging	Het
Hmcn1	C	G	1: 150,470,869 (GRCm39)		probably null	Het
Hspbap1	T	G	16: 35,621,961 (GRCm39)	L102W	probably damaging	Het
Iqcb1	G	A	16: 36,692,023 (GRCm39)		probably benign	Het
Itga7	A	G	10: 128,784,862 (GRCm39)	Y763C	possibly damaging	Het
Itgb4	A	T	11: 115,874,897 (GRCm39)	D418V	probably benign	Het
Jakmip2	T	C	18: 43,690,432 (GRCm39)	D631G	probably damaging	Het
Kcnc2	G	C	10: 112,107,761 (GRCm39)	G51R	probably benign	Het
Kcnu1	A	G	8: 26,408,344 (GRCm39)	I52V	probably benign	Het
Kdm5a	T	C	6: 120,407,189 (GRCm39)	I1468T	probably damaging	Het
Kmt2d	A	G	15: 98,743,739 (GRCm39)		probably benign	Het
Mab21l3	A	G	3: 101,725,961 (GRCm39)	V345A	possibly damaging	Het
Marchf10	A	T	11: 105,287,904 (GRCm39)	S133T	probably damaging	Het
Mccc1	T	C	3: 36,048,079 (GRCm39)	S115G	probably benign	Het
Mchr1	G	A	15: 81,122,071 (GRCm39)	V274M	probably damaging	Het
Mrgpra3	T	A	7: 47,239,783 (GRCm39)	I48F	probably benign	Het
Myo9a	T	A	9: 59,734,479 (GRCm39)	F687Y	probably damaging	Het
Nfrkb	T	A	9: 31,308,302 (GRCm39)	L216*	probably null	Het
Nrxn3	A	T	12: 89,780,102 (GRCm39)		probably benign	Het
Olig2	T	A	16: 91,023,769 (GRCm39)	M161K	probably damaging	Het
Or11h7	A	T	14: 50,891,090 (GRCm39)	Y132F	probably damaging	Het
Pcdh15	T	A	10: 74,021,210 (GRCm39)	N141K	probably damaging	Het
Pcdha4	T	C	18: 37,088,031 (GRCm39)	V738A	probably benign	Het
Pdgfra	T	C	5: 75,328,503 (GRCm39)	S212P	probably benign	Het
Plk3	G	A	4: 116,989,934 (GRCm39)	Q194*	probably null	Het
Ppp1r36	T	C	12: 76,484,378 (GRCm39)	I216T	possibly damaging	Het
Ptprz1	T	A	6: 23,052,081 (GRCm39)	N2303K	probably damaging	Het
Rab25	G	A	3: 88,450,710 (GRCm39)	T117M	probably damaging	Het
Relch	T	A	1: 105,619,732 (GRCm39)	D320E	possibly damaging	Het
Slc25a47	T	C	12: 108,821,904 (GRCm39)	V231A	probably benign	Het
Slx4	G	A	16: 3,803,140 (GRCm39)	H1225Y	probably damaging	Het
Snx13	C	T	12: 35,156,758 (GRCm39)	A470V	probably benign	Het
Spa17	A	G	9: 37,517,090 (GRCm39)	F101S	probably benign	Het
Ssh1	C	T	5: 114,096,791 (GRCm39)	A217T	probably benign	Het
Stimate	T	A	14: 30,593,521 (GRCm39)		probably null	Het
Synm	G	C	7: 67,383,264 (GRCm39)	T1466S	probably damaging	Het
Tbc1d19	A	G	5: 53,967,187 (GRCm39)	E29G	possibly damaging	Het
Teddm2	T	A	1: 153,726,191 (GRCm39)	T175S	probably benign	Het
Tet2	T	A	3: 133,193,096 (GRCm39)	H446L	possibly damaging	Het
Tpm3-rs7	G	T	14: 113,552,268 (GRCm39)	R54L	probably benign	Het
Ttc5	T	A	14: 51,022,926 (GRCm39)		probably null	Het
Tyk2	G	T	9: 21,019,312 (GRCm39)	Q1014K	probably benign	Het
Ush2a	T	C	1: 188,643,594 (GRCm39)	S4319P	possibly damaging	Het
Zbtb10	C	A	3: 9,317,125 (GRCm39)	H312Q	possibly damaging	Het
Zfp462	A	T	4: 55,012,324 (GRCm39)		probably null	Het

Other mutations in Cxcr6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02313:Cxcr6	APN	9	123,639,770 (GRCm39)	missense	probably damaging	0.96
IGL03192:Cxcr6	APN	9	123,639,111 (GRCm39)	missense	possibly damaging	0.52
IGL03342:Cxcr6	APN	9	123,639,472 (GRCm39)	nonsense	probably null
PIT4362001:Cxcr6	UTSW	9	123,639,526 (GRCm39)	missense	probably benign	0.00
R0399:Cxcr6	UTSW	9	123,640,016 (GRCm39)	missense	possibly damaging	0.70
R0487:Cxcr6	UTSW	9	123,639,463 (GRCm39)	missense	probably benign	0.02
R1496:Cxcr6	UTSW	9	123,639,412 (GRCm39)	missense	probably benign	0.12
R1662:Cxcr6	UTSW	9	123,639,613 (GRCm39)	missense	possibly damaging	0.71
R1733:Cxcr6	UTSW	9	123,639,181 (GRCm39)	missense	probably damaging	1.00
R1869:Cxcr6	UTSW	9	123,639,022 (GRCm39)	missense	probably benign	0.37
R3055:Cxcr6	UTSW	9	123,639,529 (GRCm39)	missense	probably damaging	1.00
R3056:Cxcr6	UTSW	9	123,639,529 (GRCm39)	missense	probably damaging	1.00
R3771:Cxcr6	UTSW	9	123,639,550 (GRCm39)	missense	probably benign	0.02
R3828:Cxcr6	UTSW	9	123,639,934 (GRCm39)	missense	probably benign
R4810:Cxcr6	UTSW	9	123,639,227 (GRCm39)	missense	probably damaging	1.00
R5685:Cxcr6	UTSW	9	123,639,811 (GRCm39)	missense	probably benign	0.01
R5748:Cxcr6	UTSW	9	123,639,406 (GRCm39)	missense	probably damaging	1.00
R6210:Cxcr6	UTSW	9	123,639,073 (GRCm39)	missense	possibly damaging	0.95
R6773:Cxcr6	UTSW	9	123,639,355 (GRCm39)	missense	possibly damaging	0.83
R7414:Cxcr6	UTSW	9	123,639,287 (GRCm39)	nonsense	probably null
R7427:Cxcr6	UTSW	9	123,639,305 (GRCm39)	missense	probably benign	0.41
R7428:Cxcr6	UTSW	9	123,639,305 (GRCm39)	missense	probably benign	0.41
R7863:Cxcr6	UTSW	9	123,639,914 (GRCm39)	missense	probably damaging	0.98
R8426:Cxcr6	UTSW	9	123,639,071 (GRCm39)	missense	probably benign	0.00
R8824:Cxcr6	UTSW	9	123,640,006 (GRCm39)	missense	probably benign	0.08
R9645:Cxcr6	UTSW	9	123,639,151 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- ACCACAGTGAGGAGATATCCAC -3'
(R):5'- TTGAGACTCCCAGGTGAGAGAG -3'

Sequencing Primer
(F):5'- CAGTGAGGAGATATCCACTATGGTTC -3'
(R):5'- GAGGCAGCCGATATCCTTCATAAG -3'

Posted On

2018-06-22