Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01655:Cd300lg'

102971

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cd300lg

Ensembl Gene

ENSMUSG00000017309

Gene Name

CD300 molecule like family member G

Synonyms

nepmucin, D11Ertd736e, Clm9, 2310016B05Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01655

Quality Score

Status

Chromosome

Chromosomal Location

101932337-101946443 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101937901 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 244 (S244P)

Ref Sequence

ENSEMBL: ENSMUSP00000102782 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017453] [ENSMUST00000107163] [ENSMUST00000107164] [ENSMUST00000123895]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000017453

SMART Domains

Protein: ENSMUSP00000017453
Gene: ENSMUSG00000017309

Domain	Start	End	E-Value	Type
IG	22	124	1.82e-6	SMART
low complexity region	142	155	N/A	INTRINSIC
transmembrane domain	163	185	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107163
AA Change: S200P

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000102781
Gene: ENSMUSG00000017309
AA Change: S200P

Domain	Start	End	E-Value	Type
IG	22	124	1.82e-6	SMART
internal_repeat_1	154	188	2.12e-12	PROSPERO
internal_repeat_1	180	213	2.12e-12	PROSPERO
low complexity region	226	239	N/A	INTRINSIC
transmembrane domain	247	269	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107164
AA Change: S244P

PolyPhen 2 Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102782
Gene: ENSMUSG00000017309
AA Change: S244P

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IG	22	124	1.82e-6	SMART
low complexity region	270	283	N/A	INTRINSIC
transmembrane domain	291	313	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123895

SMART Domains

Protein: ENSMUSP00000120921
Gene: ENSMUSG00000017309

Domain	Start	End	E-Value	Type
IG	22	124	1.82e-6	SMART
low complexity region	186	199	N/A	INTRINSIC
transmembrane domain	207	229	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the CD300 (see MIM 606786)-like (CD300L) family, such as CD300LG, are widely expressed on hematopoietic cells. All CD300L proteins are type I cell surface glycoproteins that contain a single immunoglobulin (Ig) V-like domain (Takatsu et al., 2006 [PubMed 16876123]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Phenotypic analysis of mice homozygous for a targeted allele indicates that this mutation shows no notable phenotype in any parameter tested. [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
Acp6	G	A	3: 97,073,288 (GRCm39)		probably null	Het
Aida	T	A	1: 183,094,618 (GRCm39)	Y104*	probably null	Het
Ces4a	T	A	8: 105,873,806 (GRCm39)	L425Q	probably damaging	Het
Chrnb3	T	C	8: 27,884,202 (GRCm39)	V298A	probably damaging	Het
Cnot6	A	C	11: 49,568,131 (GRCm39)	F486C	probably damaging	Het
Ctnna3	A	G	10: 64,708,949 (GRCm39)	T663A	probably benign	Het
Cyp2j12	T	A	4: 96,003,814 (GRCm39)	K267N	possibly damaging	Het
Dclre1a	A	T	19: 56,535,489 (GRCm39)	Y32N	probably damaging	Het
Ddx21	A	G	10: 62,423,270 (GRCm39)	I644T	probably damaging	Het
Epha6	A	C	16: 59,659,666 (GRCm39)	N817K	probably benign	Het
Ercc6l2	T	A	13: 63,967,566 (GRCm39)	Y55*	probably null	Het
Esyt1	A	G	10: 128,358,181 (GRCm39)	I183T	possibly damaging	Het
Exoc8	T	C	8: 125,622,967 (GRCm39)	T467A	probably benign	Het
Fance	T	C	17: 28,541,753 (GRCm39)		probably benign	Het
Fbxo46	C	T	7: 18,870,235 (GRCm39)	R285W	probably damaging	Het
Ffar2	A	T	7: 30,519,012 (GRCm39)	V176E	probably damaging	Het
Fnbp1l	T	C	3: 122,362,398 (GRCm39)		probably null	Het
Gm10288	T	C	3: 146,544,565 (GRCm39)		noncoding transcript	Het
Gm12588	T	A	11: 121,798,777 (GRCm39)			Het
Gm9755	G	A	8: 67,967,885 (GRCm39)		noncoding transcript	Het
Gpr33	A	T	12: 52,070,343 (GRCm39)	M232K	probably damaging	Het
Haus5	A	T	7: 30,362,719 (GRCm39)		probably benign	Het
Ilvbl	A	G	10: 78,413,167 (GRCm39)		probably benign	Het
Kifap3	G	A	1: 163,623,618 (GRCm39)		probably benign	Het
Klhl26	T	C	8: 70,904,533 (GRCm39)	Y378C	probably damaging	Het
Lama4	G	A	10: 38,936,209 (GRCm39)	S628N	probably benign	Het
Lamc3	G	A	2: 31,788,290 (GRCm39)	R150H	probably damaging	Het
Mrgprx2	A	T	7: 48,132,439 (GRCm39)	C126*	probably null	Het
Myo3a	A	T	2: 22,428,137 (GRCm39)	D798V	probably damaging	Het
Ndufs1	A	T	1: 63,190,716 (GRCm39)	L44Q	probably damaging	Het
Nfrkb	G	T	9: 31,314,755 (GRCm39)	R525L	probably benign	Het
Or10ag58	T	A	2: 87,265,229 (GRCm39)	C133S	probably damaging	Het
Or1e34	T	C	11: 73,778,753 (GRCm39)	I148M	probably benign	Het
Or2p2	T	C	13: 21,257,075 (GRCm39)	Y132C	probably damaging	Het
Or2r11	T	C	6: 42,437,474 (GRCm39)	T160A	probably benign	Het
Or4k41	T	C	2: 111,280,234 (GRCm39)	F250L	probably benign	Het
Or4q3	A	G	14: 50,583,641 (GRCm39)	M86T	probably benign	Het
Or5w1	A	G	2: 87,486,773 (GRCm39)	F164S	probably damaging	Het
Or8g17	T	A	9: 38,930,214 (GRCm39)	I208F	probably benign	Het
Or9r7	G	T	10: 129,962,860 (GRCm39)	T22K	probably benign	Het
Pias4	T	C	10: 80,991,492 (GRCm39)	K352E	probably benign	Het
Pkhd1	G	A	1: 20,604,857 (GRCm39)	Q1153*	probably null	Het
Pon1	C	A	6: 5,175,760 (GRCm39)	W254C	probably damaging	Het
Prr14	A	G	7: 127,074,939 (GRCm39)	T447A	probably benign	Het
Serpinb9g	T	A	13: 33,679,088 (GRCm39)	C319*	probably null	Het
Slc9c1	A	T	16: 45,403,335 (GRCm39)	M801L	probably benign	Het
Tenm4	C	T	7: 96,202,931 (GRCm39)	T182M	probably damaging	Het
Ubr4	T	A	4: 139,135,107 (GRCm39)	L813Q	probably damaging	Het
Uimc1	T	C	13: 55,176,517 (GRCm39)	E667G	probably benign	Het
Unc79	A	G	12: 103,134,546 (GRCm39)	T2173A	probably benign	Het
Unkl	T	C	17: 25,429,822 (GRCm39)	S142P	probably benign	Het
Vezt	A	G	10: 93,832,859 (GRCm39)	V204A	probably benign	Het
Vps53	A	T	11: 75,953,860 (GRCm39)	I402N	probably damaging	Het
Zfyve9	T	C	4: 108,499,289 (GRCm39)	D1343G	probably damaging	Het

Other mutations in Cd300lg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01125:Cd300lg	APN	11	101,945,047 (GRCm39)	unclassified	probably benign
R0129:Cd300lg	UTSW	11	101,944,918 (GRCm39)	critical splice acceptor site	probably null
R0427:Cd300lg	UTSW	11	101,933,852 (GRCm39)	missense	probably damaging	0.98
R1401:Cd300lg	UTSW	11	101,944,981 (GRCm39)	missense	possibly damaging	0.88
R1533:Cd300lg	UTSW	11	101,934,047 (GRCm39)	missense	probably damaging	0.98
R1809:Cd300lg	UTSW	11	101,933,938 (GRCm39)	missense	probably benign	0.00
R1848:Cd300lg	UTSW	11	101,937,032 (GRCm39)	splice site	probably benign
R1863:Cd300lg	UTSW	11	101,932,430 (GRCm39)	missense	probably damaging	0.99
R1918:Cd300lg	UTSW	11	101,944,936 (GRCm39)	missense	probably damaging	1.00
R4018:Cd300lg	UTSW	11	101,932,420 (GRCm39)	missense	probably damaging	0.98
R4591:Cd300lg	UTSW	11	101,937,006 (GRCm39)	missense	probably benign	0.01
R4758:Cd300lg	UTSW	11	101,944,417 (GRCm39)	critical splice donor site	probably null
R6211:Cd300lg	UTSW	11	101,944,995 (GRCm39)	missense	possibly damaging	0.50
R6425:Cd300lg	UTSW	11	101,937,749 (GRCm39)	missense	probably benign	0.15
R6470:Cd300lg	UTSW	11	101,941,331 (GRCm39)	missense	possibly damaging	0.61
R7025:Cd300lg	UTSW	11	101,933,900 (GRCm39)	missense	probably damaging	1.00
R7312:Cd300lg	UTSW	11	101,937,767 (GRCm39)	missense	probably benign	0.37
R7522:Cd300lg	UTSW	11	101,945,028 (GRCm39)	missense	probably benign	0.25
R8074:Cd300lg	UTSW	11	101,932,427 (GRCm39)	missense	probably damaging	1.00
R8176:Cd300lg	UTSW	11	101,932,390 (GRCm39)	start gained	probably benign
R8922:Cd300lg	UTSW	11	101,945,028 (GRCm39)	missense	probably damaging	0.99
R9026:Cd300lg	UTSW	11	101,944,998 (GRCm39)	missense	probably damaging	0.98
R9273:Cd300lg	UTSW	11	101,939,590 (GRCm39)	missense	probably damaging	0.99
R9471:Cd300lg	UTSW	11	101,944,920 (GRCm39)	missense	probably benign	0.01

Posted On

2014-01-21