Mutagenetix > Incidental Mutation

Incidental Mutation 'R8913:Cd244a'

678734

Institutional Source

Beutler Lab

Gene Symbol

Cd244a

Ensembl Gene

ENSMUSG00000004709

Gene Name

CD244 molecule A

Synonyms

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

MMRRC Submission

068702-MU

Accession Numbers

Essential gene?

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

Stock #

R8913 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

171386287-171412884 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 171401774 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 167 (Y167N)

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 damaging
Transcript: ENSMUST00000004829
AA Change: Y167N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000004829
Gene: ENSMUSG00000004709
AA Change: Y167N

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

probably damaging
Transcript: ENSMUST00000194797
AA Change: Y167N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141898
Gene: ENSMUSG00000004709
AA Change: Y167N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

96% (65/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,303,972 (GRCm39)	Y2102H	probably damaging	Het
Adam30	A	T	3: 98,068,580 (GRCm39)	I10F	possibly damaging	Het
Afap1l1	C	T	18: 61,889,910 (GRCm39)		probably null	Het
Asz1	T	C	6: 18,054,570 (GRCm39)	D411G	probably benign	Het
Atp8b2	A	G	3: 89,852,830 (GRCm39)	L144P		Het
Atxn7l3	G	T	11: 102,185,787 (GRCm39)	N13K	probably damaging	Het
Cap1	C	A	4: 122,761,445 (GRCm39)		probably null	Het
Cd302	A	G	2: 60,088,241 (GRCm39)	F92S	probably damaging	Het
Cep128	C	T	12: 91,331,221 (GRCm39)		probably null	Het
Csmd2	C	A	4: 128,417,351 (GRCm39)	P2770T		Het
Cyp4f40	G	T	17: 32,886,810 (GRCm39)	D122Y	probably benign	Het
Dnah14	A	G	1: 181,553,063 (GRCm39)	E2583G	probably benign	Het
Dync1h1	T	C	12: 110,624,602 (GRCm39)	V3714A	probably benign	Het
Fam114a1	G	T	5: 65,185,821 (GRCm39)	A381S	possibly damaging	Het
Fzd8	A	G	18: 9,213,869 (GRCm39)	Y317C	probably damaging	Het
Igfn1	T	C	1: 135,891,579 (GRCm39)	K2312R	possibly damaging	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Klhl23	G	A	2: 69,664,234 (GRCm39)	E528K	probably damaging	Het
Lama4	T	C	10: 38,982,039 (GRCm39)	V1756A	probably benign	Het
Lcn2	C	A	2: 32,277,158 (GRCm39)	V53F	possibly damaging	Het
Lrp4	T	C	2: 91,331,785 (GRCm39)	S1633P	probably benign	Het
Map3k19	A	G	1: 127,750,363 (GRCm39)	V996A	probably benign	Het
Mettl9	T	G	7: 120,675,539 (GRCm39)	F313C	probably damaging	Het
Mios	T	A	6: 8,215,924 (GRCm39)	H373Q	probably benign	Het
Mroh2b	A	G	15: 4,947,010 (GRCm39)		probably benign	Het
Myo1a	T	C	10: 127,541,710 (GRCm39)	V83A	probably benign	Het
Naxe	T	C	3: 87,965,665 (GRCm39)	T45A	probably benign	Het
Nckap1	A	G	2: 80,401,564 (GRCm39)	V40A	possibly damaging	Het
Nherf2	G	A	17: 24,863,839 (GRCm39)	S12L	probably benign	Het
Nmt1	G	T	11: 102,948,271 (GRCm39)	R265L	probably damaging	Het
Nwd2	C	A	5: 63,963,440 (GRCm39)	A1008D	possibly damaging	Het
Obsl1	C	T	1: 75,467,892 (GRCm39)	A1334T	probably benign	Het
Oplah	T	C	15: 76,181,680 (GRCm39)	M1114V		Het
Or10a3n	T	C	7: 108,492,736 (GRCm39)	R298G	probably damaging	Het
Or10a49	A	T	7: 108,467,809 (GRCm39)	V184E	probably damaging	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or2w6	A	G	13: 21,843,274 (GRCm39)	F73S	probably damaging	Het
Or4c29	A	G	2: 88,739,991 (GRCm39)	F249L	probably benign	Het
Pdlim5	A	T	3: 141,950,666 (GRCm39)	F582L	probably damaging	Het
Plcb2	A	G	2: 118,544,365 (GRCm39)	F671L	probably damaging	Het
Ppfibp1	T	A	6: 146,923,947 (GRCm39)	V725E	probably damaging	Het
Psmd11	C	T	11: 80,362,338 (GRCm39)	T396I	probably damaging	Het
Ptn	C	T	6: 36,718,276 (GRCm39)	D130N	probably benign	Het
Rasgrf2	T	C	13: 92,159,034 (GRCm39)	D473G	probably benign	Het
Robo1	A	C	16: 72,701,622 (GRCm39)	I163L	probably damaging	Het
Ror1	A	C	4: 100,265,027 (GRCm39)	D167A	possibly damaging	Het
Rps6ka5	T	C	12: 100,520,595 (GRCm39)	D709G		Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Runx2	T	C	17: 44,919,169 (GRCm39)	T472A	probably benign	Het
Scn11a	T	C	9: 119,623,094 (GRCm39)	T582A	probably damaging	Het
Serpina3m	C	T	12: 104,355,477 (GRCm39)	A48V	probably benign	Het
Smim8	T	A	4: 34,769,056 (GRCm39)	D76V	possibly damaging	Het
Sqor	A	G	2: 122,641,806 (GRCm39)	K260R	probably benign	Het
Syde2	A	T	3: 145,708,148 (GRCm39)	I963F	probably damaging	Het
Tasor	A	T	14: 27,188,145 (GRCm39)	N864Y	probably damaging	Het
Tenm4	G	A	7: 96,351,952 (GRCm39)		probably benign	Het
Tm7sf3	A	T	6: 146,527,621 (GRCm39)	Y68*	probably null	Het
Tmtc2	T	A	10: 105,158,887 (GRCm39)	I569F	probably damaging	Het
Upf3a	G	A	8: 13,845,728 (GRCm39)	V276M	possibly damaging	Het
Vmn1r174	G	A	7: 23,453,375 (GRCm39)	V14M	possibly damaging	Het
Vmn2r104	A	G	17: 20,249,968 (GRCm39)	S768P	probably damaging	Het
Vmn2r60	A	T	7: 41,785,778 (GRCm39)	T194S	probably benign	Het
Zfhx2	A	G	14: 55,309,543 (GRCm39)	M852T	probably benign	Het
Zfp207	T	A	11: 80,276,744 (GRCm39)	D19E	probably damaging	Het
Zfp318	G	A	17: 46,722,699 (GRCm39)	M1567I	probably benign	Het
Zfp407	T	A	18: 84,578,653 (GRCm39)	E820V	probably damaging	Het
Zfp512b	A	T	2: 181,227,282 (GRCm39)	C46S		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
R0930:Cd244a	UTSW	1	171,404,801 (GRCm39)	splice site	probably null
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
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'- TCTGATTCCTGTAGGACTTGC -3'
(R):5'- AGAAAGCCATGTGACCTGGG -3'

Sequencing Primer
(F):5'- CTGTAGGACTTGCATTTCCAGAAC -3'
(R):5'- GACCTGGGTCTCATGTGAATC -3'

Posted On

2021-08-02