Mutagenetix > Incidental Mutation

Incidental Mutation 'R8824:Cxcr6'

673337

Institutional Source

Beutler Lab

Gene Symbol

Cxcr6

Ensembl Gene

ENSMUSG00000048521

Gene Name

chemokine (C-X-C motif) receptor 6

Synonyms

STRL33, BONZO

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8824 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123806475-123811760 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 123810941 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 343 (T343P)

Ref Sequence

ENSEMBL: ENSMUSP00000151182 (fasta)

Gene Model

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

AlphaFold

Q9EQ16

Predicted Effect

probably damaging
Transcript: ENSMUST00000049810
AA Change: T336P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000060776
Gene: ENSMUSG00000048521
AA Change: T336P

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 benign
Transcript: ENSMUST00000216072
AA Change: T343P

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (63/63)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	A	T	2: 93,862,850	V260D	probably damaging	Het
Adora2a	G	A	10: 75,326,179	A51T	probably damaging	Het
Afg1l	G	A	10: 42,438,387	P128S	possibly damaging	Het
Ago4	C	A	4: 126,507,184	V623L	probably benign	Het
Akap11	A	T	14: 78,516,347	N112K		Het
C1ra	A	T	6: 124,517,695	I306F	probably damaging	Het
Ccdc73	A	G	2: 104,991,877	N724D	possibly damaging	Het
Cd248	A	G	19: 5,069,617	I498V	probably benign	Het
Clrn1	A	T	3: 58,884,893	S50T	probably benign	Het
Col7a1	A	G	9: 108,967,025	K1553R	unknown	Het
Cyp11b2	T	A	15: 74,856,065	Q56L	probably damaging	Het
Dip2a	A	G	10: 76,278,486		probably null	Het
Dnmbp	A	G	19: 43,849,837	V742A	probably benign	Het
Dusp16	A	T	6: 134,739,769	S192T	probably benign	Het
Ehbp1	A	T	11: 22,232,053	D87E	probably damaging	Het
Fgl1	A	G	8: 41,199,711	V150A	probably benign	Het
Flt3	T	C	5: 147,334,863	D873G	probably damaging	Het
Gart	T	C	16: 91,630,703	D469G	possibly damaging	Het
Gm28168	T	G	1: 117,947,895	S85A	probably benign	Het
Golgb1	A	G	16: 36,915,689	D1807G	probably benign	Het
Grm8	A	G	6: 27,761,352	L291S	probably damaging	Het
Gucy2d	C	T	7: 98,443,469	P18S	possibly damaging	Het
Ifna15	C	T	4: 88,557,761	C162Y	probably damaging	Het
Iqub	C	A	6: 24,479,308	E412*	probably null	Het
Krt4	T	A	15: 101,920,642	D312V		Het
Krtap26-1	A	T	16: 88,647,415	I106N	probably damaging	Het
Krtap26-1	T	C	16: 88,647,436	Y99C	probably damaging	Het
Lipn	T	C	19: 34,084,716	I357T	probably benign	Het
Lrrc14b	A	G	13: 74,363,949	L4P	probably damaging	Het
Mrgpra9	A	T	7: 47,235,293	C209S	probably benign	Het
Myh7b	A	G	2: 155,630,381	N1291D	probably benign	Het
Myo5a	A	G	9: 75,167,046	T746A	probably damaging	Het
Myom2	A	C	8: 15,114,169	E1021D	possibly damaging	Het
Ncoa2	C	T	1: 13,177,185	R338H	probably benign	Het
Ncor2	A	G	5: 125,118,757	F91L		Het
Neb	C	G	2: 52,216,911	A4407P	probably damaging	Het
Olfr1135	T	C	2: 87,671,960	M136V	possibly damaging	Het
Olfr1272	A	G	2: 90,296,012	I283T	probably damaging	Het
Olfr347	A	T	2: 36,735,191	Y290F	probably damaging	Het
Olfr502	T	G	7: 108,523,143	Y269S	probably benign	Het
Olfr74	A	G	2: 87,974,003	F221L	probably benign	Het
Olfr819	C	T	10: 129,965,792	V297M	probably damaging	Het
Peg10	T	TCCC	6: 4,756,451		probably benign	Het
Piwil4	C	A	9: 14,727,475	K298N	probably benign	Het
Prkcz	G	A	4: 155,344,828		probably benign	Het
Prkg2	G	A	5: 98,942,208	P691L	possibly damaging	Het
Ptprc	T	A	1: 138,113,708	K89*	probably null	Het
Rapgef3	C	T	15: 97,766,908	A25T	probably benign	Het
Rreb1	C	T	13: 37,930,516	T617I	probably damaging	Het
Rsph1	A	C	17: 31,273,376	V72G	possibly damaging	Het
Shc2	A	G	10: 79,637,702	V50A	probably benign	Het
Slc38a9	G	A	13: 112,701,487	R262H	probably benign	Het
Slco6c1	T	A	1: 97,128,159	N6Y	possibly damaging	Het
Smarca5	A	G	8: 80,705,332	F886L	probably benign	Het
Tas1r2	A	G	4: 139,653,763		probably benign	Het
Tnrc6c	T	A	11: 117,739,854		probably benign	Het
Trim30b	T	A	7: 104,357,906		probably benign	Het
Trim55	T	C	3: 19,672,962	S398P	probably benign	Het
Ttc39c	T	A	18: 12,686,946		probably benign	Het
Ubxn10	A	G	4: 138,735,867		probably null	Het
Usf3	A	G	16: 44,215,613	N152S	probably benign	Het
Vps13b	T	A	15: 35,533,299	V839E	probably damaging	Het
Zeb1	T	A	18: 5,748,680		probably benign	Het
Zfp780b	T	C	7: 27,963,468	Y554C	probably benign	Het
Zhx2	C	T	15: 57,821,280	T15I	probably damaging	Het

Other mutations in Cxcr6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02313:Cxcr6	APN	9	123810705	missense	probably damaging	0.96
IGL03192:Cxcr6	APN	9	123810046	missense	possibly damaging	0.52
IGL03342:Cxcr6	APN	9	123810407	nonsense	probably null
PIT4362001:Cxcr6	UTSW	9	123810461	missense	probably benign	0.00
R0399:Cxcr6	UTSW	9	123810951	missense	possibly damaging	0.70
R0487:Cxcr6	UTSW	9	123810398	missense	probably benign	0.02
R1496:Cxcr6	UTSW	9	123810347	missense	probably benign	0.12
R1662:Cxcr6	UTSW	9	123810548	missense	possibly damaging	0.71
R1733:Cxcr6	UTSW	9	123810116	missense	probably damaging	1.00
R1869:Cxcr6	UTSW	9	123809957	missense	probably benign	0.37
R3055:Cxcr6	UTSW	9	123810464	missense	probably damaging	1.00
R3056:Cxcr6	UTSW	9	123810464	missense	probably damaging	1.00
R3771:Cxcr6	UTSW	9	123810485	missense	probably benign	0.02
R3828:Cxcr6	UTSW	9	123810869	missense	probably benign
R4810:Cxcr6	UTSW	9	123810162	missense	probably damaging	1.00
R5685:Cxcr6	UTSW	9	123810746	missense	probably benign	0.01
R5748:Cxcr6	UTSW	9	123810341	missense	probably damaging	1.00
R6210:Cxcr6	UTSW	9	123810008	missense	possibly damaging	0.95
R6612:Cxcr6	UTSW	9	123810720	missense	probably damaging	1.00
R6773:Cxcr6	UTSW	9	123810290	missense	possibly damaging	0.83
R7414:Cxcr6	UTSW	9	123810222	nonsense	probably null
R7427:Cxcr6	UTSW	9	123810240	missense	probably benign	0.41
R7428:Cxcr6	UTSW	9	123810240	missense	probably benign	0.41
R7863:Cxcr6	UTSW	9	123810849	missense	probably damaging	0.98
R8426:Cxcr6	UTSW	9	123810006	missense	probably benign	0.00
R9645:Cxcr6	UTSW	9	123810086	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- CCAAAGTACAAGCTGGGAGTAC -3'
(R):5'- GCCATGGTGTTCAGTGACTTCTC -3'

Sequencing Primer
(F):5'- CCAGCTTTAAGTATGCCATCGTAGTG -3'
(R):5'- GGTGTTCAGTGACTTCTCCATGATAC -3'

Posted On

2021-07-15