Mutagenetix > Incidental Mutation

Incidental Mutation 'R4295:Cd200r4'

323282

Institutional Source

Beutler Lab

Gene Symbol

Cd200r4

Ensembl Gene

ENSMUSG00000062082

Gene Name

CD200 receptor 4

Synonyms

F630107N04Rik, MCD200RLa

MMRRC Submission

041084-MU

Accession Numbers

Essential gene?

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

Stock #

R4295 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44632096-44659513 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44653239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 3 (V3A)

Ref Sequence

ENSEMBL: ENSMUSP00000135162 (fasta)

Gene Model

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

AlphaFold

Q6XJV4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114626
AA Change: V49A

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110273
Gene: ENSMUSG00000062082
AA Change: V49A

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 damaging
Transcript: ENSMUST00000176321
AA Change: V3A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135162
Gene: ENSMUSG00000062082
AA Change: V3A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176819
AA Change: V49A

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135299
Gene: ENSMUSG00000062082
AA Change: V49A

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: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,606,249 (GRCm39)	S164P	probably benign	Het
4933427D06Rik	A	G	6: 89,084,883 (GRCm39)		noncoding transcript	Het
Aldh1l2	C	T	10: 83,331,784 (GRCm39)	V674M	possibly damaging	Het
Angel1	A	G	12: 86,767,057 (GRCm39)	Y440H	probably damaging	Het
Atr	A	G	9: 95,756,479 (GRCm39)	I870V	probably benign	Het
Celf2	T	C	2: 6,608,875 (GRCm39)	N302S	probably benign	Het
Cip2a	T	A	16: 48,833,612 (GRCm39)	F571Y	probably benign	Het
Dnah17	A	T	11: 118,009,598 (GRCm39)	I363N	probably damaging	Het
Fam98a	A	T	17: 75,848,342 (GRCm39)	M124K	probably damaging	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Foxj3	G	T	4: 119,483,494 (GRCm39)	G555*	probably null	Het
Gm4841	T	C	18: 60,403,262 (GRCm39)	N277S	probably benign	Het
Kcnv1	G	A	15: 44,977,840 (GRCm39)	T66M	probably damaging	Het
Kif18a	T	C	2: 109,123,398 (GRCm39)	V224A	probably benign	Het
Lamb2	A	G	9: 108,363,410 (GRCm39)	D863G	probably benign	Het
Lbr	C	T	1: 181,648,267 (GRCm39)	C398Y	probably damaging	Het
Lcn11	G	A	2: 25,668,111 (GRCm39)	A90T	possibly damaging	Het
Or14c46	A	T	7: 85,918,968 (GRCm39)	F10I	probably damaging	Het
Or2v2	T	A	11: 49,004,254 (GRCm39)	I100L	probably benign	Het
Or5m3	T	C	2: 85,838,614 (GRCm39)	Y165H	probably benign	Het
Or8d2b	A	G	9: 38,788,609 (GRCm39)	I46V	probably damaging	Het
Or9a4	T	A	6: 40,549,090 (GRCm39)	F257I	probably damaging	Het
Pcdhb5	T	A	18: 37,455,734 (GRCm39)	S705T	possibly damaging	Het
Pcgf2	A	T	11: 97,584,282 (GRCm39)	Y24*	probably null	Het
Phf14	C	T	6: 11,987,096 (GRCm39)	P559S	probably damaging	Het
Pigf	A	G	17: 87,331,184 (GRCm39)	I46T	probably benign	Het
Plpp4	A	G	7: 128,909,356 (GRCm39)	E22G	probably damaging	Het
Prdm10	A	G	9: 31,227,590 (GRCm39)	E65G	possibly damaging	Het
Sash1	A	G	10: 8,606,006 (GRCm39)	S795P	possibly damaging	Het
Slc22a21	T	C	11: 53,860,329 (GRCm39)	D34G	probably damaging	Het
Spata13	T	A	14: 60,947,004 (GRCm39)	M684K	probably damaging	Het
Srsf6	T	C	2: 162,776,636 (GRCm39)		probably benign	Het
Stk32c	T	C	7: 138,700,704 (GRCm39)		probably null	Het
Tjp1	T	C	7: 64,972,898 (GRCm39)	D514G	probably damaging	Het
Ttll11	TCGCCGCCGCCGCCGCCGCCGC	TCGCCGCCGCCGCCGCCGC	2: 35,869,564 (GRCm39)		probably benign	Het
Unc13c	A	G	9: 73,641,786 (GRCm39)	S1236P	probably damaging	Het
Utp20	G	T	10: 88,590,381 (GRCm39)	D2364E	possibly damaging	Het
Vmn1r192	T	A	13: 22,371,465 (GRCm39)	I252F	probably damaging	Het
Vmn1r76	T	C	7: 11,665,057 (GRCm39)	I52M	probably benign	Het
Xndc1	T	A	7: 101,730,694 (GRCm39)	L288M	possibly damaging	Het
Zfp451	A	T	1: 33,816,836 (GRCm39)	F154L	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
R5254:Cd200r4	UTSW	16	44,652,453 (GRCm39)	missense	possibly damaging	0.86
R5683:Cd200r4	UTSW	16	44,653,311 (GRCm39)	missense	probably benign	0.01
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'- CCACATGCTCGAACCTTTACTTTAG -3'
(R):5'- AGTTCAGGACTGTGGTCAGG -3'

Sequencing Primer
(F):5'- GCTCGAACCTTTACTTTAGAAGATG -3'
(R):5'- TCAGGTGTGGAGGCCCAG -3'

Posted On

2015-06-20