Mutagenetix > Incidental Mutation

Incidental Mutation 'R5517:Cd244a'

431321

Institutional Source

Beutler Lab

Gene Symbol

Cd244a

Ensembl Gene

ENSMUSG00000004709

Gene Name

CD244 molecule A

Synonyms

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

MMRRC Submission

043076-MU

Accession Numbers

Essential gene?

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

Stock #

R5517 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

171386287-171412884 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 171405542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141898 (fasta)

Gene Model

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

AlphaFold

Q07763

Predicted Effect

probably benign
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: 98.5%
3x: 97.4%
10x: 95.2%
20x: 90.5%

Validation Efficiency

99% (67/68)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	C	T	17: 36,269,233 (GRCm39)	R675K	possibly damaging	Het
Aire	A	T	10: 77,875,525 (GRCm39)	S282T	probably benign	Het
Ak9	A	G	10: 41,216,887 (GRCm39)	E283G	probably benign	Het
Akap9	T	A	5: 4,051,665 (GRCm39)	D1477E	possibly damaging	Het
Ap2a1	T	C	7: 44,556,405 (GRCm39)	D273G	possibly damaging	Het
Apob	T	C	12: 8,040,906 (GRCm39)	L664P	probably damaging	Het
Arhgap35	A	T	7: 16,297,414 (GRCm39)	F550L	probably damaging	Het
Armc2	T	C	10: 41,839,846 (GRCm39)	E373G	probably benign	Het
Atp8b2	C	A	3: 89,853,338 (GRCm39)	A726S	probably benign	Het
C030048H21Rik	T	A	2: 26,145,899 (GRCm39)	Q87L	probably damaging	Het
Cdk10	T	A	8: 123,957,326 (GRCm39)		probably null	Het
Cenpe	C	A	3: 134,929,026 (GRCm39)	P310Q	probably damaging	Het
Chuk	T	A	19: 44,085,972 (GRCm39)		probably null	Het
Crebl2	T	C	6: 134,828,139 (GRCm39)	S104P	probably benign	Het
Ddo	A	G	10: 40,523,726 (GRCm39)	K239E	probably benign	Het
Defb5	A	G	8: 19,300,868 (GRCm39)		probably null	Het
Dhx35	T	A	2: 158,676,832 (GRCm39)	M422K	probably damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Gatm	G	A	2: 122,426,024 (GRCm39)	T409I	probably damaging	Het
Gdpd1	A	T	11: 86,950,332 (GRCm39)	D80E	probably damaging	Het
Gspt1	C	A	16: 11,071,843 (GRCm39)	G7C	unknown	Het
Hells	G	A	19: 38,943,244 (GRCm39)	S516N	probably benign	Het
Ints1	A	G	5: 139,738,542 (GRCm39)	S2069P	possibly damaging	Het
Kank4	G	A	4: 98,663,118 (GRCm39)	T690M	probably damaging	Het
Kcnq4	T	C	4: 120,573,006 (GRCm39)	N265S	possibly damaging	Het
Kif5b	C	A	18: 6,220,954 (GRCm39)	A385S	probably benign	Het
Map2	T	C	1: 66,454,415 (GRCm39)	S1102P	probably benign	Het
Mcm7	A	G	5: 138,163,133 (GRCm39)	S340P	possibly damaging	Het
Mcrs1	C	T	15: 99,144,876 (GRCm39)	R246H	possibly damaging	Het
Myo16	T	A	8: 10,610,226 (GRCm39)	M1189K	probably benign	Het
Or4d2	A	T	11: 87,783,892 (GRCm39)	I286N	probably damaging	Het
Or4k52	G	T	2: 111,610,804 (GRCm39)	M46I	probably benign	Het
Or7g29	G	A	9: 19,287,063 (GRCm39)	T38I	probably damaging	Het
Otog	A	G	7: 45,923,995 (GRCm39)	N1118S	probably damaging	Het
Pakap	T	C	4: 57,855,987 (GRCm39)	Y439H	probably damaging	Het
Pcdhb7	G	T	18: 37,474,846 (GRCm39)		probably benign	Het
Picalm	C	T	7: 89,819,806 (GRCm39)	T189I	possibly damaging	Het
Ptx4	T	A	17: 25,343,760 (GRCm39)	S337T	possibly damaging	Het
Rad51ap2	C	T	12: 11,508,313 (GRCm39)	S745L	probably benign	Het
Rspry1	G	A	8: 95,363,388 (GRCm39)		probably null	Het
Scn5a	T	G	9: 119,324,779 (GRCm39)	I1350L	probably damaging	Het
Sgk2	T	C	2: 162,839,755 (GRCm39)	L121P	probably damaging	Het
Slc17a1	A	T	13: 24,056,575 (GRCm39)		probably benign	Het
Slc6a12	A	G	6: 121,331,298 (GRCm39)	N183S	probably benign	Het
Smg9	C	A	7: 24,114,338 (GRCm39)		probably benign	Het
Spred1	G	A	2: 117,008,195 (GRCm39)	S367N	probably damaging	Het
Srpra	T	C	9: 35,122,646 (GRCm39)	V21A	probably benign	Het
Taar2	A	T	10: 23,816,627 (GRCm39)	I56F	possibly damaging	Het
Taf1a	T	G	1: 183,177,323 (GRCm39)	L67R	probably damaging	Het
Tbc1d10b	C	A	7: 126,797,779 (GRCm39)	R787S	possibly damaging	Het
Topbp1	T	A	9: 103,213,313 (GRCm39)	N1044K	probably benign	Het
Usp24	A	G	4: 106,232,871 (GRCm39)	T886A	probably benign	Het
Vmn2r26	A	G	6: 124,027,676 (GRCm39)	D472G	probably damaging	Het
Zyg11a	T	C	4: 108,061,943 (GRCm39)	N286S	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
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'- ATTTTCTTCCTCACACAGAGTTCAG -3'
(R):5'- AAGGAAAGCTGGCCCTGAAC -3'

Sequencing Primer
(F):5'- GAGTTCAGCCCTAAGGAACCTTTG -3'
(R):5'- CTGGCCCTGAACGGTTTCTATAAG -3'

Posted On

2016-10-05