Mutagenetix > Incidental Mutation

Incidental Mutation 'R3055:Cxcr6'

265135

Institutional Source

Beutler Lab

Gene Symbol

Cxcr6

Ensembl Gene

ENSMUSG00000048521

Gene Name

C-X-C motif chemokine receptor 6

Synonyms

STRL33, BONZO

MMRRC Submission

040564-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3055 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123635542-123640819 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 123639529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 177 (I177F)

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: I177F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000060776
Gene: ENSMUSG00000048521
AA Change: I177F

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: I184F

PolyPhen 2 Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)

Meta Mutation Damage Score

0.2774

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (50/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610042L04Rik	A	G	14: 4,348,878 (GRCm38)	E13G	probably damaging	Het
5730596B20Rik	A	T	6: 52,156,108 (GRCm39)		probably benign	Het
Aadacl4fm4	A	G	4: 144,401,268 (GRCm39)	I72T	probably benign	Het
Abca16	A	G	7: 120,035,074 (GRCm39)	M287V	probably benign	Het
Abca7	G	A	10: 79,835,581 (GRCm39)	R283H	probably damaging	Het
Acad11	A	G	9: 103,953,535 (GRCm39)	I126V	probably damaging	Het
Ahrr	A	G	13: 74,373,006 (GRCm39)	V148A	probably damaging	Het
Aldh1l2	T	C	10: 83,338,336 (GRCm39)	K528E	probably benign	Het
Atp6v0a2	T	A	5: 124,765,209 (GRCm39)		probably benign	Het
Atxn10	A	G	15: 85,271,206 (GRCm39)	D248G	probably benign	Het
Bard1	A	G	1: 71,127,390 (GRCm39)	V73A	possibly damaging	Het
Catsper3	T	C	13: 55,956,709 (GRCm39)	S376P	unknown	Het
Ccdc150	A	G	1: 54,328,001 (GRCm39)	N361S	possibly damaging	Het
Ddx25	A	G	9: 35,462,647 (GRCm39)	V246A	probably damaging	Het
Drd4	T	C	7: 140,874,392 (GRCm39)	V319A	probably damaging	Het
Dscam	G	A	16: 96,602,555 (GRCm39)	T629I	probably damaging	Het
Evi5l	C	T	8: 4,241,603 (GRCm39)	R311*	probably null	Het
Fxr1	A	G	3: 34,103,333 (GRCm39)	E221G	probably damaging	Het
Gldn	A	T	9: 54,245,807 (GRCm39)	T453S	probably damaging	Het
Ighm	T	A	12: 113,382,596 (GRCm39)		probably benign	Het
Ints12	G	A	3: 132,815,126 (GRCm39)	M444I	possibly damaging	Het
Lgr5	T	A	10: 115,302,028 (GRCm39)		probably benign	Het
Mier3	T	A	13: 111,827,837 (GRCm39)	D7E	probably damaging	Het
Mms19	A	T	19: 41,938,527 (GRCm39)		probably benign	Het
Mrpl20	G	T	4: 155,888,329 (GRCm39)	V43F	possibly damaging	Het
Muc5b	G	T	7: 141,417,778 (GRCm39)	V3575F	probably damaging	Het
Naip5	T	C	13: 100,358,386 (GRCm39)	Y950C	probably benign	Het
Or4d2	A	G	11: 87,784,198 (GRCm39)	V184A	possibly damaging	Het
Or5t9	T	C	2: 86,659,471 (GRCm39)	F125S	possibly damaging	Het
Or8b12b	G	T	9: 37,684,489 (GRCm39)	C178F	probably damaging	Het
Pkd1l2	T	A	8: 117,795,054 (GRCm39)		probably null	Het
Prune2	A	G	19: 17,102,407 (GRCm39)	E2522G	probably damaging	Het
Radil	T	C	5: 142,481,161 (GRCm39)	T549A	possibly damaging	Het
Radx	T	A	X: 138,412,306 (GRCm39)	V439E	possibly damaging	Het
Rasa2	G	A	9: 96,493,526 (GRCm39)	L53F	possibly damaging	Het
Rasgrf2	A	G	13: 92,165,583 (GRCm39)	F306L	probably damaging	Het
Rbm19	C	T	5: 120,271,075 (GRCm39)	R633C	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Shfl	AGAGGAGGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGAGGAGGA	9: 20,785,013 (GRCm39)		probably benign	Het
Slc4a4	T	A	5: 89,280,366 (GRCm39)	L353H	probably damaging	Het
Slc4a4	T	C	5: 89,373,807 (GRCm39)	V971A	probably damaging	Het
Stil	T	A	4: 114,871,266 (GRCm39)		probably benign	Het
Tjp3	T	C	10: 81,116,341 (GRCm39)	K251R	probably benign	Het
Ugt2b35	A	T	5: 87,149,457 (GRCm39)	Y236F	probably benign	Het
Utp14b	T	A	1: 78,642,442 (GRCm39)	D113E	possibly damaging	Het
Vmn1r121	G	A	7: 20,832,390 (GRCm39)	Q17*	probably null	Het
Vmn2r28	A	T	7: 5,484,391 (GRCm39)	L603Q	probably damaging	Het
Vps13b	A	G	15: 35,646,507 (GRCm39)	E1537G	probably damaging	Het
Xrcc4	T	C	13: 90,210,196 (GRCm39)	T83A	probably benign	Het
Yae1d1	T	C	13: 18,167,827 (GRCm39)	E22G	probably damaging	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
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
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'- TATGCAGGCACCTATGAGTG -3'
(R):5'- TGGAAGTTTCGAGCATGAAGC -3'

Sequencing Primer
(F):5'- TGTGCAAAACTCTTCGAGGC -3'
(R):5'- CAAGGTCTTGATAATGCCTGAGTAGC -3'

Posted On

2015-02-05