Mutagenetix > Incidental Mutation

Incidental Mutation 'R7769:Cd244a'

598437

Institutional Source

Beutler Lab

Gene Symbol

Cd244a

Ensembl Gene

ENSMUSG00000004709

Gene Name

CD244 molecule A

Synonyms

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

MMRRC Submission

045825-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R7769 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

171386287-171412884 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 171404873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 242 (I242F)

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 benign
Transcript: ENSMUST00000004829
AA Change: I242F

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000004829
Gene: ENSMUSG00000004709
AA Change: I242F

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 benign
Transcript: ENSMUST00000194797
AA Change: I242F

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000141898
Gene: ENSMUSG00000004709
AA Change: I242F

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: 99.7%
20x: 98.9%

Validation Efficiency

96% (71/74)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	ACCAGCCC	ACC	14: 118,852,682 (GRCm39)		probably null	Het
Abhd14b	T	C	9: 106,328,819 (GRCm39)	Y147H	probably damaging	Het
Adam26b	C	A	8: 43,974,732 (GRCm39)	R90L	probably benign	Het
Agt	A	T	8: 125,291,289 (GRCm39)	M6K	probably benign	Het
Akr1c14	T	C	13: 4,109,644 (GRCm39)	S5P	probably benign	Het
Arhgef38	A	C	3: 132,855,383 (GRCm39)	S235A	unknown	Het
Cabp5	A	G	7: 13,134,658 (GRCm39)	D31G	probably benign	Het
Cacna1h	T	A	17: 25,604,779 (GRCm39)	D1178V	probably damaging	Het
Ccdc88a	A	T	11: 29,432,381 (GRCm39)	E1199D	probably damaging	Het
Clpb	G	T	7: 101,371,924 (GRCm39)	R220L	probably damaging	Het
Cltc	C	T	11: 86,610,319 (GRCm39)	R638H	probably damaging	Het
Cnr1	A	T	4: 33,944,892 (GRCm39)	M427L	probably benign	Het
Ctnnbl1	C	T	2: 157,579,390 (GRCm39)		probably benign	Het
Epb41l2	A	T	10: 25,369,471 (GRCm39)	T597S	probably benign	Het
Epb41l3	T	C	17: 69,545,421 (GRCm39)	Y163H	probably damaging	Het
Fgg	A	G	3: 82,920,433 (GRCm39)		probably null	Het
Gm37240	A	T	3: 84,417,232 (GRCm39)	D162E	possibly damaging	Het
Gm44511	T	A	6: 128,797,240 (GRCm39)	T83S	probably benign	Het
Gm6685	T	A	11: 28,289,252 (GRCm39)	Y188F	probably benign	Het
Gprin2	A	T	14: 33,917,570 (GRCm39)	C67S	probably benign	Het
Grk6	A	G	13: 55,598,820 (GRCm39)	D140G	probably benign	Het
Hps3	T	C	3: 20,072,972 (GRCm39)		probably null	Het
Hspb7	T	C	4: 141,151,335 (GRCm39)	V159A	possibly damaging	Het
Ibsp	A	G	5: 104,453,871 (GRCm39)	N70D	probably benign	Het
Ibsp	A	G	5: 104,458,050 (GRCm39)	N196D	probably damaging	Het
Igfn1	A	T	1: 135,910,143 (GRCm39)	F147Y	possibly damaging	Het
Iqca1	T	G	1: 90,005,532 (GRCm39)	D492A	possibly damaging	Het
Klhl42	T	C	6: 146,993,358 (GRCm39)	L110P	possibly damaging	Het
Krt12	C	T	11: 99,308,852 (GRCm39)	R395Q	probably damaging	Het
Lig4	A	T	8: 10,023,629 (GRCm39)	H50Q	possibly damaging	Het
Mttp	A	C	3: 137,808,873 (GRCm39)	L730R	probably damaging	Het
Muc16	T	A	9: 18,571,803 (GRCm39)	I239L	unknown	Het
Myo15a	T	C	11: 60,399,975 (GRCm39)	F1723L		Het
Niban2	A	G	2: 32,809,844 (GRCm39)	T314A	possibly damaging	Het
Nin	T	C	12: 70,090,004 (GRCm39)	D1137G		Het
Nsf	C	T	11: 103,819,665 (GRCm39)	V35M	probably damaging	Het
Numa1	T	A	7: 101,648,207 (GRCm39)	I646K	possibly damaging	Het
Nwd2	A	G	5: 63,961,847 (GRCm39)	N477S	probably damaging	Het
Or1p1	T	A	11: 74,179,589 (GRCm39)	V39E	probably damaging	Het
P4ha3	A	G	7: 99,934,924 (GRCm39)	D62G	probably damaging	Het
Palb2	G	T	7: 121,727,638 (GRCm39)	D77E	probably benign	Het
Pcmtd2	T	C	2: 181,493,494 (GRCm39)	V233A	probably benign	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pgr	C	T	9: 8,946,856 (GRCm39)	T699I	possibly damaging	Het
Pknox2	C	A	9: 36,806,602 (GRCm39)		probably null	Het
Ppp2r3d	T	C	9: 124,439,087 (GRCm38)	H110R		Het
Psmd11	T	A	11: 80,325,408 (GRCm39)		probably benign	Het
Pyroxd2	T	C	19: 42,736,001 (GRCm39)	N59S	probably benign	Het
Qser1	A	T	2: 104,588,921 (GRCm39)	D1662E	possibly damaging	Het
Rasip1	A	G	7: 45,278,239 (GRCm39)	Y180C	probably damaging	Het
Rbl1	T	C	2: 157,033,900 (GRCm39)	S393G	probably benign	Het
Rtn4r	C	T	16: 17,969,153 (GRCm39)	P194S	probably benign	Het
Ryr1	C	T	7: 28,798,210 (GRCm39)	G944D	probably damaging	Het
Scamp3	A	G	3: 89,085,298 (GRCm39)	D23G	probably damaging	Het
Secisbp2l	CTGGG	C	2: 125,613,465 (GRCm39)		probably benign	Het
Shcbp1	A	G	8: 4,789,232 (GRCm39)	I529T	probably damaging	Het
Slc5a10	T	A	11: 61,564,473 (GRCm39)	D502V	probably damaging	Het
Smad5	T	C	13: 56,880,855 (GRCm39)	I323T	possibly damaging	Het
Spred1	T	C	2: 117,007,930 (GRCm39)	S279P	probably benign	Het
Stag1	T	A	9: 100,826,880 (GRCm39)	V949D	possibly damaging	Het
Stxbp3	A	G	3: 108,708,144 (GRCm39)	S386P	probably benign	Het
Syt14	A	G	1: 192,666,632 (GRCm39)	S91P	unknown	Het
Thpo	C	T	16: 20,544,401 (GRCm39)	A211T	probably benign	Het
Tns1	T	A	1: 73,992,530 (GRCm39)	D716V	probably damaging	Het
Trbv26	A	G	6: 41,204,481 (GRCm39)	Y8C	probably benign	Het
Tshr	A	G	12: 91,505,044 (GRCm39)	I661V	probably damaging	Het
Uvrag	G	A	7: 98,628,928 (GRCm39)	P380S	probably damaging	Het
Vkorc1	G	T	7: 127,493,696 (GRCm39)	Y88*	probably null	Het
Vmn1r63	C	T	7: 5,806,369 (GRCm39)	V88M	probably damaging	Het
Wdsub1	A	G	2: 59,708,763 (GRCm39)	Y37H	probably damaging	Het
Zap70	A	G	1: 36,809,983 (GRCm39)	D31G	probably benign	Het
Zc3h12d	G	A	10: 7,743,390 (GRCm39)	A387T	probably benign	Het
Zfp438	C	T	18: 5,213,377 (GRCm39)	R527H	possibly damaging	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
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'- TGAGCAGACAGGCCATTGAG -3'
(R):5'- GGCCCACCATAGATAGTGTG -3'

Sequencing Primer
(F):5'- CCATTGAGAGAGGACAGTGGGTTC -3'
(R):5'- CCCACCATAGATAGTGTGAACAGG -3'

Posted On

2019-11-26