Mutagenetix > Incidental Mutation

Incidental Mutation 'R5683:Cd200r4'

443201

Institutional Source

Beutler Lab

Gene Symbol

Cd200r4

Ensembl Gene

ENSMUSG00000062082

Gene Name

CD200 receptor 4

Synonyms

F630107N04Rik, MCD200RLa

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R5683 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44632096-44659513 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44653311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 73 (I73K)

Ref Sequence

ENSEMBL: ENSMUSP00000135299 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114626] [ENSMUST00000176321] [ENSMUST00000176819]

AlphaFold

Q6XJV4

Predicted Effect

probably benign
Transcript: ENSMUST00000114626
AA Change: I73K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000110273
Gene: ENSMUSG00000062082
AA Change: I73K

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
IG	44	147	1.23e-3	SMART
Blast:IG_like	149	270	2e-68	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000176321
AA Change: I27K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000135162
Gene: ENSMUSG00000062082
AA Change: I27K

Domain	Start	End	E-Value	Type
IG	1	101	1.97e0	SMART
Blast:IG_like	103	224	6e-69	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000176819
AA Change: I73K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000135299
Gene: ENSMUSG00000062082
AA Change: I73K

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
IG	44	147	1.23e-3	SMART
Blast:IG_like	149	270	2e-68	BLAST

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 97.0%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	A	C	11: 72,093,266 (GRCm39)	M22R	probably benign	Het
Acad11	A	G	9: 103,961,482 (GRCm39)	E397G	probably damaging	Het
Actrt3	A	T	3: 30,652,427 (GRCm39)	D222E	probably benign	Het
Akap11	A	T	14: 78,750,018 (GRCm39)	S790T	probably damaging	Het
Arhgap5	T	A	12: 52,566,369 (GRCm39)	D1113E	probably benign	Het
Arl2	C	A	19: 6,184,794 (GRCm39)	R153L	probably benign	Het
B3glct	T	A	5: 149,619,902 (GRCm39)	M19K	probably benign	Het
Ccdc138	C	A	10: 58,376,641 (GRCm39)	Q425K	probably damaging	Het
Ccdc178	T	A	18: 22,263,179 (GRCm39)	K143N	probably benign	Het
Chaf1b	A	G	16: 93,684,030 (GRCm39)	K94E	possibly damaging	Het
Cmtm2a	T	C	8: 105,019,676 (GRCm39)		probably null	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Fnbp4	C	A	2: 90,583,206 (GRCm39)	N277K	probably damaging	Het
Htr7	C	A	19: 35,947,271 (GRCm39)	A248S	probably damaging	Het
Itsn1	T	C	16: 91,702,268 (GRCm39)	Y37H	probably benign	Het
Kdm8	A	G	7: 125,054,345 (GRCm39)	Y16C	possibly damaging	Het
Kif1b	A	T	4: 149,306,718 (GRCm39)	Y881N	probably damaging	Het
Lhcgr	C	T	17: 89,079,447 (GRCm39)	V80I	probably benign	Het
Lrriq1	T	A	10: 103,009,236 (GRCm39)	L1082F	probably damaging	Het
Met	A	G	6: 17,571,743 (GRCm39)	Y1354C	probably damaging	Het
Nbea	A	G	3: 55,536,007 (GRCm39)	L2859P	possibly damaging	Het
Ndufaf5	T	A	2: 140,044,843 (GRCm39)	M279K	possibly damaging	Het
Nlrp4e	T	C	7: 23,052,697 (GRCm39)	I872T	probably damaging	Het
Npnt	A	T	3: 132,612,601 (GRCm39)		probably null	Het
Nsd1	G	A	13: 55,393,961 (GRCm39)	V521I	probably benign	Het
Or2n1e	G	A	17: 38,586,437 (GRCm39)	M258I	possibly damaging	Het
Pak6	T	A	2: 118,524,393 (GRCm39)	Y469N	probably damaging	Het
Parp4	C	T	14: 56,884,886 (GRCm39)	R1322*	probably null	Het
Pax6	T	C	2: 105,516,252 (GRCm39)	Y177H	probably benign	Het
Pcdhb4	A	T	18: 37,442,042 (GRCm39)	T451S	probably benign	Het
Pcdhgb5	A	T	18: 37,864,907 (GRCm39)	D234V	probably damaging	Het
Pramel11	A	G	4: 143,622,423 (GRCm39)	S311P	probably damaging	Het
Ralb	G	A	1: 119,403,686 (GRCm39)	A147V	possibly damaging	Het
Rgs11	A	G	17: 26,424,155 (GRCm39)	K196E	probably benign	Het
Rnft1	A	T	11: 86,382,616 (GRCm39)	T280S	probably benign	Het
Slco4c1	G	T	1: 96,795,559 (GRCm39)	H166Q	probably damaging	Het
Sycp3	T	C	10: 88,308,797 (GRCm39)	S248P	probably damaging	Het
Tab2	A	G	10: 7,794,876 (GRCm39)		probably null	Het
Tgm6	T	C	2: 129,980,875 (GRCm39)	M224T	probably damaging	Het
Topbp1	A	T	9: 103,190,003 (GRCm39)	E193V	possibly damaging	Het
Trim36	T	C	18: 46,302,359 (GRCm39)	Y551C	probably damaging	Het
Ttc17	T	C	2: 94,192,866 (GRCm39)	Y628C	probably damaging	Het
Vmn1r180	A	C	7: 23,652,635 (GRCm39)	D266A	possibly damaging	Het
Vmn2r104	T	A	17: 20,260,981 (GRCm39)	K481*	probably null	Het
Zc3hav1	A	G	6: 38,284,172 (GRCm39)	V981A	probably damaging	Het

Other mutations in Cd200r4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02996:Cd200r4	APN	16	44,653,396 (GRCm39)	missense	probably benign	0.08
IGL03328:Cd200r4	APN	16	44,653,882 (GRCm39)	missense	possibly damaging	0.91
H8562:Cd200r4	UTSW	16	44,653,736 (GRCm39)	missense	possibly damaging	0.62
H8786:Cd200r4	UTSW	16	44,653,736 (GRCm39)	missense	possibly damaging	0.62
R1163:Cd200r4	UTSW	16	44,658,383 (GRCm39)	missense	probably benign	0.03
R1168:Cd200r4	UTSW	16	44,653,307 (GRCm39)	missense	probably damaging	1.00
R1502:Cd200r4	UTSW	16	44,653,803 (GRCm39)	missense	probably damaging	1.00
R1536:Cd200r4	UTSW	16	44,653,412 (GRCm39)	missense	possibly damaging	0.95
R2237:Cd200r4	UTSW	16	44,641,260 (GRCm39)	start codon destroyed	probably null	1.00
R2239:Cd200r4	UTSW	16	44,641,260 (GRCm39)	start codon destroyed	probably null	1.00
R2899:Cd200r4	UTSW	16	44,653,728 (GRCm39)	missense	probably damaging	1.00
R3824:Cd200r4	UTSW	16	44,641,313 (GRCm39)	missense	probably benign	0.00
R3825:Cd200r4	UTSW	16	44,641,313 (GRCm39)	missense	probably benign	0.00
R4295:Cd200r4	UTSW	16	44,653,239 (GRCm39)	missense	probably damaging	0.99
R5254:Cd200r4	UTSW	16	44,652,453 (GRCm39)	missense	possibly damaging	0.86
R5979:Cd200r4	UTSW	16	44,653,295 (GRCm39)	missense	probably benign	0.14
R6531:Cd200r4	UTSW	16	44,653,868 (GRCm39)	nonsense	probably null
R7205:Cd200r4	UTSW	16	44,653,529 (GRCm39)	missense	probably damaging	1.00
R7583:Cd200r4	UTSW	16	44,653,784 (GRCm39)	missense	probably damaging	1.00
R8157:Cd200r4	UTSW	16	44,653,504 (GRCm39)	missense	probably damaging	1.00
R9576:Cd200r4	UTSW	16	44,658,338 (GRCm39)	missense
R9739:Cd200r4	UTSW	16	44,641,142 (GRCm39)	start gained	probably benign
X0063:Cd200r4	UTSW	16	44,641,269 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GCTCGAACCTTTACTTTAGAAGATG -3'
(R):5'- ACATGTGTAAGTCCCCTCATGC -3'

Sequencing Primer
(F):5'- CCATTAGTCAAGCATTGTTCTAGTG -3'
(R):5'- TGTAAGTCCCCTCATGCTGGAG -3'

Posted On

2016-11-09