Mutagenetix > Incidental Mutation

Incidental Mutation 'R7863:Cxcr6'

607662

Institutional Source

Beutler Lab

Gene Symbol

Cxcr6

Ensembl Gene

ENSMUSG00000048521

Gene Name

C-X-C motif chemokine receptor 6

Synonyms

STRL33, BONZO

MMRRC Submission

045916-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7863 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123635542-123640819 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 123639914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 312 (R312Q)

Ref Sequence

ENSEMBL: ENSMUSP00000151182 (fasta)

Gene Model

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

AlphaFold

Q9EQ16

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049810
AA Change: R305Q

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000060776
Gene: ENSMUSG00000048521
AA Change: R305Q

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

probably damaging
Transcript: ENSMUST00000216072
AA Change: R312Q

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	G	11: 48,838,101 (GRCm39)	S829P	probably benign	Het
Abca1	A	T	4: 53,107,179 (GRCm39)	F183I	probably benign	Het
Abca12	A	T	1: 71,332,656 (GRCm39)	M1235K	probably damaging	Het
Abca7	A	G	10: 79,844,655 (GRCm39)	D1488G	probably damaging	Het
Adgrl3	A	G	5: 81,660,596 (GRCm39)	Y387C	probably damaging	Het
Adnp	T	C	2: 168,031,270 (GRCm39)	K14E	possibly damaging	Het
Ago3	T	C	4: 126,243,990 (GRCm39)	R721G	possibly damaging	Het
Aldh3b3	T	A	19: 4,015,322 (GRCm39)	Y196*	probably null	Het
Alox12b	T	C	11: 69,057,753 (GRCm39)	W506R	probably damaging	Het
Arid4b	A	G	13: 14,338,734 (GRCm39)	I402V	probably benign	Het
Cep55	C	T	19: 38,046,247 (GRCm39)		probably benign	Het
Chl1	A	G	6: 103,683,475 (GRCm39)	N767S	possibly damaging	Het
Cldn6	A	G	17: 23,900,096 (GRCm39)	N20S	probably benign	Het
Col23a1	A	T	11: 51,463,597 (GRCm39)	I420F	probably damaging	Het
Cyp4a10	T	C	4: 115,375,622 (GRCm39)	V35A	probably benign	Het
Def6	A	G	17: 28,446,841 (GRCm39)	N548D	possibly damaging	Het
Dock6	A	G	9: 21,757,954 (GRCm39)	V50A	possibly damaging	Het
Epha8	T	A	4: 136,660,966 (GRCm39)	I639F	probably damaging	Het
Ephx2	T	A	14: 66,344,692 (GRCm39)	R211*	probably null	Het
Espn	C	T	4: 152,236,616 (GRCm39)	V17M	probably damaging	Het
Ezr	A	G	17: 7,008,863 (GRCm39)	L403P	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Golm1	T	C	13: 59,797,383 (GRCm39)	Y154C	probably damaging	Het
Gpam	A	G	19: 55,059,388 (GRCm39)	Y820H	probably damaging	Het
Gpr12	T	C	5: 146,520,370 (GRCm39)	D184G	possibly damaging	Het
Gpr87	C	T	3: 59,087,317 (GRCm39)	A63T	probably damaging	Het
Hmx2	G	T	7: 131,156,082 (GRCm39)	G16V	probably benign	Het
Hspg2	T	C	4: 137,292,135 (GRCm39)	V4009A	probably benign	Het
Iglc3	T	C	16: 18,884,248 (GRCm39)	D61G	not run	Het
Ikzf2	G	T	1: 69,609,796 (GRCm39)	Q144K	possibly damaging	Het
Il1rap	C	T	16: 26,495,461 (GRCm39)	R23C	probably damaging	Het
Kctd9	T	A	14: 67,967,166 (GRCm39)	D161E	possibly damaging	Het
Klhl8	T	C	5: 104,019,968 (GRCm39)	N351S	probably benign	Het
Krt28	G	A	11: 99,255,999 (GRCm39)	T420I	possibly damaging	Het
Marchf7	T	A	2: 60,071,366 (GRCm39)	H623Q	probably benign	Het
Max	A	G	12: 76,986,848 (GRCm39)	I63T	probably damaging	Het
Mrpl28	T	A	17: 26,343,615 (GRCm39)	V125E	possibly damaging	Het
Mtmr10	T	A	7: 63,969,205 (GRCm39)	D322E	probably benign	Het
Mtrex	T	C	13: 113,045,435 (GRCm39)	T366A	probably benign	Het
Nlrp4f	A	T	13: 65,342,059 (GRCm39)	Y529N	possibly damaging	Het
Nlrx1	A	G	9: 44,176,509 (GRCm39)	I31T	probably benign	Het
Oaz2	G	A	9: 65,596,449 (GRCm39)	R171Q	possibly damaging	Het
Or4c121	T	G	2: 89,024,295 (GRCm39)	I28L	probably benign	Het
Or5a1	T	G	19: 12,097,974 (GRCm39)	D34A	possibly damaging	Het
Or5t16	T	G	2: 86,819,424 (GRCm39)	Y32S	probably damaging	Het
Pcdhgc4	T	A	18: 37,951,027 (GRCm39)	Y814*	probably null	Het
Pcm1	T	A	8: 41,714,163 (GRCm39)	I243K	probably damaging	Het
Pdcd11	A	T	19: 47,085,403 (GRCm39)	N171I	probably damaging	Het
Phf20l1	T	A	15: 66,487,084 (GRCm39)	V400E	possibly damaging	Het
Pira13	C	T	7: 3,827,801 (GRCm39)		probably null	Het
Psg28	T	A	7: 18,162,042 (GRCm39)	T154S	possibly damaging	Het
Ptgs2	T	A	1: 149,977,090 (GRCm39)	M99K	probably damaging	Het
Ptprh	T	A	7: 4,606,097 (GRCm39)	M1L	probably benign	Het
Rbp4	T	C	19: 38,112,546 (GRCm39)	T140A	possibly damaging	Het
Rhbdd3	G	A	11: 5,053,236 (GRCm39)	R12Q	probably benign	Het
Saal1	T	C	7: 46,342,327 (GRCm39)	N372S	probably benign	Het
Satb1	T	C	17: 52,112,350 (GRCm39)	E88G	possibly damaging	Het
Shfl	G	A	9: 20,782,672 (GRCm39)	A79T	possibly damaging	Het
Slc49a3	A	T	5: 108,593,400 (GRCm39)	L146Q	probably damaging	Het
Slc6a9	G	T	4: 117,721,207 (GRCm39)	C319F	probably damaging	Het
Smc6	T	G	12: 11,339,130 (GRCm39)	V322G	probably benign	Het
Snrnp200	T	A	2: 127,073,609 (GRCm39)	F1336I	probably damaging	Het
Spg7	T	A	8: 123,815,788 (GRCm39)		probably null	Het
Stab2	G	A	10: 86,808,745 (GRCm39)	T188I	probably benign	Het
Tbata	A	G	10: 61,011,521 (GRCm39)	E19G	probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Ticrr	T	C	7: 79,331,760 (GRCm39)	V757A	possibly damaging	Het
Tle1	T	C	4: 72,059,529 (GRCm39)	S261G	probably null	Het
Tlr3	T	A	8: 45,850,774 (GRCm39)	I708L	probably benign	Het
Tph2	A	C	10: 114,915,906 (GRCm39)	S422R	probably damaging	Het
Trim26	A	G	17: 37,161,664 (GRCm39)	T28A	probably damaging	Het
Trmt10c	A	G	16: 55,855,554 (GRCm39)	L27S	probably benign	Het
Tubb6	T	C	18: 67,534,790 (GRCm39)	S230P	probably damaging	Het
Usf1	C	T	1: 171,245,385 (GRCm39)	Q266*	probably null	Het
Vegfa	A	G	17: 46,336,461 (GRCm39)	F220L	probably damaging	Het
Vmn2r105	C	T	17: 20,428,937 (GRCm39)	C713Y	probably benign	Het
Vmn2r17	T	A	5: 109,568,035 (GRCm39)	S53T	probably benign	Het
Xirp2	A	T	2: 67,343,074 (GRCm39)	T1772S	probably benign	Het
Zfp462	T	C	4: 55,007,747 (GRCm39)	I62T	probably benign	Het
Zfp516	T	A	18: 83,019,453 (GRCm39)	I1157N	probably benign	Het
Zfp819	C	A	7: 43,267,316 (GRCm39)	Q600K	probably benign	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
R6612:Cxcr6	UTSW	9	123,639,785 (GRCm39)	missense	probably damaging	1.00
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
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'- AGACCTTGCTTCATGCTCG -3'
(R):5'- AACTTCTCTAAGTGTGGCAAGG -3'

Sequencing Primer
(F):5'- GCTTCATGCTCGAAACTTCCAGAAG -3'
(R):5'- GGCCTACTACAATTGGAACATACTGG -3'

Posted On

2019-12-20