Mutagenetix > Incidental Mutation

Incidental Mutation 'R0930:Cd244a'

80713

Institutional Source

Beutler Lab

Gene Symbol

Cd244a

Ensembl Gene

ENSMUSG00000004709

Gene Name

CD244 molecule A

Synonyms

Cd244, Nmrk, C9.1, F730046O15Rik, 2B4

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R0930 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

171386287-171412884 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 171404801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000004829 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004829] [ENSMUST00000194797]

AlphaFold

Q07763

PDB Structure

NMR structure of the D1 domain of the Natural Killer Cell Receptor, 2B4 [SOLUTION NMR]
Structure of NK cell receptor 2B4 (CD244) bound to its ligand CD48 [X-RAY DIFFRACTION]
Structure of NK cell receptor 2B4 (CD244) [X-RAY DIFFRACTION]

Predicted Effect

probably null
Transcript: ENSMUST00000004829

SMART Domains

Protein: ENSMUSP00000004829
Gene: ENSMUSG00000004709

Domain	Start	End	E-Value	Type
IG	26	128	4.23e-2	SMART
Blast:IG_like	146	222	8e-19	BLAST
transmembrane domain	226	248	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194170

Predicted Effect

probably benign
Transcript: ENSMUST00000194797

SMART Domains

Protein: ENSMUSP00000141898
Gene: ENSMUSG00000004709

Domain	Start	End	E-Value	Type
IG	26	128	4.23e-2	SMART
Pfam:Ig_2	134	221	6.5e-5	PFAM
transmembrane domain	226	248	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195804

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cell surface receptor expressed on natural killer (NK) cells (and some T cells) that mediate non-major histocompatibility complex (MHC) restricted killing. The interaction between NK-cell and target cells via this receptor is thought to modulate NK-cell cytolytic activity. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered natural killer (NK) cell cytolysis. Mice homozygous for an ENU-generated allele exhibit reduced 'missing-self' targets recognition and elimination and increased clearance of B16 melanoma tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	G	T	17: 84,990,705 (GRCm39)	V16L	probably benign	Het
Adamts18	A	T	8: 114,432,028 (GRCm39)		probably null	Het
Agpat4	A	T	17: 12,417,723 (GRCm39)	E88V	probably damaging	Het
Ahcyl2	A	C	6: 29,870,627 (GRCm39)		probably null	Het
Ankrd2	T	A	19: 42,032,292 (GRCm39)		probably null	Het
Anxa6	A	T	11: 54,885,214 (GRCm39)		probably null	Het
Bpi	A	G	2: 158,103,346 (GRCm39)	I114V	possibly damaging	Het
Cacna1c	A	T	6: 118,652,857 (GRCm39)	I772N	probably damaging	Het
Cacna2d1	A	G	5: 16,570,860 (GRCm39)	N1045D	possibly damaging	Het
Caprin2	T	C	6: 148,785,009 (GRCm39)		probably null	Het
Cars1	T	A	7: 143,124,307 (GRCm39)	H373L	probably damaging	Het
Ccdc191	G	T	16: 43,751,618 (GRCm39)	G316V	probably damaging	Het
Ces1a	C	T	8: 93,749,044 (GRCm39)	D456N	probably benign	Het
Cul3	A	T	1: 80,267,835 (GRCm39)	M102K	probably damaging	Het
Dact1	A	G	12: 71,365,234 (GRCm39)	R672G	probably damaging	Het
Dapk1	T	C	13: 60,905,262 (GRCm39)	F991L	probably benign	Het
Dlg5	G	A	14: 24,185,645 (GRCm39)	P1920L	probably damaging	Het
Eme2	G	A	17: 25,111,892 (GRCm39)	S263F	probably damaging	Het
Exosc4	A	G	15: 76,211,734 (GRCm39)	I14M	probably benign	Het
Ezr	G	A	17: 7,021,398 (GRCm39)	R180*	probably null	Het
Fcgbpl1	A	T	7: 27,839,555 (GRCm39)	Y456F	probably damaging	Het
Fyb1	A	T	15: 6,668,309 (GRCm39)	I501F	probably damaging	Het
Hdac5	G	T	11: 102,095,472 (GRCm39)	P383Q	probably benign	Het
Hmx3	A	T	7: 131,144,813 (GRCm39)	H41L	probably benign	Het
Krt36	A	G	11: 99,994,225 (GRCm39)	F284S	probably damaging	Het
L1td1	A	G	4: 98,625,862 (GRCm39)	N686D	probably damaging	Het
Lsamp	G	A	16: 41,709,327 (GRCm39)	G86S	probably benign	Het
Myh8	A	G	11: 67,196,824 (GRCm39)	E1819G	possibly damaging	Het
Myo7a	A	T	7: 97,747,463 (GRCm39)	I129N	probably damaging	Het
Nckap1	A	T	2: 80,384,593 (GRCm39)	C114S	probably benign	Het
Nphp4	T	G	4: 152,622,512 (GRCm39)	L599R	probably benign	Het
Nrcam	A	G	12: 44,596,667 (GRCm39)	I301V	probably benign	Het
Or6b2b	A	G	1: 92,419,127 (GRCm39)	S117P	possibly damaging	Het
Os9	C	T	10: 126,932,924 (GRCm39)	R547Q	probably damaging	Het
Oxtr	A	T	6: 112,466,598 (GRCm39)		probably null	Het
Pgm2	A	T	5: 64,269,490 (GRCm39)	I526F	possibly damaging	Het
Plekho2	T	C	9: 65,464,105 (GRCm39)	D248G	possibly damaging	Het
Rab43	A	T	6: 87,769,752 (GRCm39)	Y151*	probably null	Het
Rbm19	A	G	5: 120,264,269 (GRCm39)	E343G	probably benign	Het
Rel	A	T	11: 23,692,439 (GRCm39)	D531E	probably benign	Het
Rfx4	T	A	10: 84,704,291 (GRCm39)	V262E	probably damaging	Het
Ryr3	A	G	2: 112,672,178 (GRCm39)	L1431P	probably damaging	Het
Sdk2	A	G	11: 113,729,271 (GRCm39)	I1102T	probably benign	Het
Sema3d	A	C	5: 12,513,183 (GRCm39)	D51A	possibly damaging	Het
Sh2d4a	T	A	8: 68,787,775 (GRCm39)	F294I	probably damaging	Het
Slc3a1	A	G	17: 85,367,171 (GRCm39)	T453A	probably benign	Het
Sod1	A	G	16: 90,022,071 (GRCm39)	D93G	probably benign	Het
Sptan1	A	G	2: 29,906,040 (GRCm39)	N1662S	probably damaging	Het
Stxbp4	A	C	11: 90,512,526 (GRCm39)	M1R	probably null	Het
Tbc1d7	A	T	13: 43,318,812 (GRCm39)	Y108*	probably null	Het
Ticam1	A	T	17: 56,577,226 (GRCm39)	V623D	unknown	Het
Ticam1	A	G	17: 56,578,687 (GRCm39)	L136P	probably damaging	Het
Tjap1	A	C	17: 46,569,455 (GRCm39)	W512G	possibly damaging	Het
Unc80	A	T	1: 66,549,800 (GRCm39)	Q686L	possibly damaging	Het
Wdr45b	A	T	11: 121,221,040 (GRCm39)	F213I	probably damaging	Het
Xdh	A	C	17: 74,230,077 (GRCm39)	W285G	probably benign	Het
Zfp646	C	T	7: 127,482,982 (GRCm39)	Q1500*	probably null	Het

Other mutations in Cd244a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00338:Cd244a	APN	1	171,401,938 (GRCm39)	critical splice donor site	probably null
IGL01014:Cd244a	APN	1	171,401,856 (GRCm39)	missense	probably damaging	1.00
IGL01689:Cd244a	APN	1	171,410,462 (GRCm39)	intron	probably benign
IGL02327:Cd244a	APN	1	171,386,909 (GRCm39)	missense	probably benign	0.36
R0022:Cd244a	UTSW	1	171,401,330 (GRCm39)	missense	probably benign	0.03
R1055:Cd244a	UTSW	1	171,404,844 (GRCm39)	missense	probably damaging	0.99
R4587:Cd244a	UTSW	1	171,405,447 (GRCm39)	missense	probably benign	0.05
R5517:Cd244a	UTSW	1	171,405,542 (GRCm39)	splice site	probably benign
R5929:Cd244a	UTSW	1	171,386,935 (GRCm39)	missense	probably damaging	1.00
R5996:Cd244a	UTSW	1	171,409,208 (GRCm39)	splice site	probably null
R6346:Cd244a	UTSW	1	171,404,889 (GRCm39)	missense	probably damaging	1.00
R6502:Cd244a	UTSW	1	171,405,447 (GRCm39)	missense	probably benign	0.05
R6612:Cd244a	UTSW	1	171,401,672 (GRCm39)	missense	probably benign	0.05
R6701:Cd244a	UTSW	1	171,401,723 (GRCm39)	missense	possibly damaging	0.67
R6973:Cd244a	UTSW	1	171,401,775 (GRCm39)	missense	probably damaging	1.00
R7655:Cd244a	UTSW	1	171,404,823 (GRCm39)	missense	probably damaging	1.00
R7656:Cd244a	UTSW	1	171,404,823 (GRCm39)	missense	probably damaging	1.00
R7672:Cd244a	UTSW	1	171,404,853 (GRCm39)	missense	probably benign	0.28
R7769:Cd244a	UTSW	1	171,404,873 (GRCm39)	missense	probably benign	0.24
R8910:Cd244a	UTSW	1	171,386,941 (GRCm39)	missense	probably damaging	0.96
R8913:Cd244a	UTSW	1	171,401,775 (GRCm39)	missense	probably damaging	1.00
R8913:Cd244a	UTSW	1	171,401,774 (GRCm39)	missense	probably damaging	1.00
R9274:Cd244a	UTSW	1	171,401,928 (GRCm39)	missense	probably benign	0.03
RF004:Cd244a	UTSW	1	171,405,490 (GRCm39)	missense	probably benign	0.15
Z1177:Cd244a	UTSW	1	171,401,918 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAGGTGAGTAAGCAGCACCAGTC -3'
(R):5'- CGGCCCACCATAGATAGTGTGAAC -3'

Sequencing Primer
(F):5'- GTAAGCAGCACCAGTCTTCTG -3'
(R):5'- TCTCCCAGGAAAAGAAGATGCTG -3'

Posted On

2013-11-07