Mutagenetix > Incidental Mutation

Incidental Mutation 'R9277:Klrg2'

703364

Institutional Source

Beutler Lab

Gene Symbol

Klrg2

Ensembl Gene

ENSMUSG00000071537

Gene Name

killer cell lectin-like receptor subfamily G, member 2

Synonyms

2310020F24Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R9277 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38602628-38614177 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38613491 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 171 (S171P)

Ref Sequence

ENSEMBL: ENSMUSP00000093732 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096030] [ENSMUST00000201345] [ENSMUST00000202245]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000096030
AA Change: S171P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000093732
Gene: ENSMUSG00000071537
AA Change: S171P

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	119	132	N/A	INTRINSIC
transmembrane domain	239	261	N/A	INTRINSIC
CLECT	271	383	4.55e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000201345

SMART Domains

Protein: ENSMUSP00000143835
Gene: ENSMUSG00000071537

Domain	Start	End	E-Value	Type
transmembrane domain	52	74	N/A	INTRINSIC
CLECT	84	196	2.3e-16	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000202245
AA Change: S171P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000144581
Gene: ENSMUSG00000071537
AA Change: S171P

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	119	132	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,867,347 (GRCm39)	Y237C	probably damaging	Het
Adam12	T	C	7: 133,521,561 (GRCm39)	S566G	probably benign	Het
Afdn	T	A	17: 14,024,270 (GRCm39)	C59S	probably damaging	Het
Apob	A	T	12: 8,061,183 (GRCm39)	I3222F	probably benign	Het
Cdyl	A	G	13: 36,042,222 (GRCm39)	D420G	probably benign	Het
Cela1	C	A	15: 100,580,894 (GRCm39)	A121S	possibly damaging	Het
Clip2	A	G	5: 134,528,963 (GRCm39)	M822T	probably benign	Het
Coq8a	G	A	1: 180,006,776 (GRCm39)	T84I	probably benign	Het
Dars2	G	A	1: 160,877,527 (GRCm39)	A390V	probably benign	Het
Dhx40	C	T	11: 86,661,056 (GRCm39)	M744I	probably benign	Het
Dnajc14	A	G	10: 128,642,689 (GRCm39)	I204V	probably benign	Het
Eftud2	A	C	11: 102,750,855 (GRCm39)	F322V	probably damaging	Het
Eif4g2	G	A	7: 110,674,066 (GRCm39)	A646V	probably damaging	Het
Faim2	T	C	15: 99,419,097 (GRCm39)	T91A	probably benign	Het
Fancl	A	T	11: 26,418,847 (GRCm39)	I290F	possibly damaging	Het
Fermt3	A	T	19: 6,991,245 (GRCm39)	Y253N	possibly damaging	Het
Fhip1a	C	A	3: 85,579,565 (GRCm39)	R880L	probably benign	Het
Frem3	T	A	8: 81,417,402 (GRCm39)	S2036T	probably damaging	Het
Gm10330	A	T	12: 23,829,911 (GRCm39)	V90E	probably damaging	Het
Golga1	T	C	2: 38,914,255 (GRCm39)	E488G	probably benign	Het
Gpatch11	T	A	17: 79,148,446 (GRCm39)	L128Q	possibly damaging	Het
Hoxd9	A	G	2: 74,529,539 (GRCm39)	N265S	possibly damaging	Het
Igfn1	C	T	1: 135,887,520 (GRCm39)	V2515M	probably damaging	Het
Itga2b	A	G	11: 102,351,982 (GRCm39)	L505P	probably damaging	Het
Lamtor5	A	G	3: 107,186,404 (GRCm39)	T58A	probably benign	Het
Lgr6	G	T	1: 134,915,217 (GRCm39)	C787*	probably null	Het
Madd	A	G	2: 91,006,055 (GRCm39)	F380S	probably damaging	Het
Magi1	A	T	6: 93,920,234 (GRCm39)	H127Q	possibly damaging	Het
Maml2	A	G	9: 13,531,872 (GRCm39)	E362G		Het
Morc2b	C	T	17: 33,354,997 (GRCm39)	G925D	probably benign	Het
Nalcn	C	T	14: 123,518,523 (GRCm39)	R1672H	probably damaging	Het
Npsr1	A	G	9: 24,224,493 (GRCm39)	Y290C	possibly damaging	Het
Obox5	A	T	7: 15,491,877 (GRCm39)	E97D	probably damaging	Het
Parn	C	T	16: 13,482,519 (GRCm39)		probably null	Het
Pip4k2b	A	T	11: 97,613,272 (GRCm39)	N241K	probably damaging	Het
Pkn2	A	G	3: 142,516,509 (GRCm39)	V539A	probably benign	Het
Plpp7	A	T	2: 31,985,824 (GRCm39)	M1L	probably damaging	Het
Pramel43	T	C	5: 94,762,843 (GRCm39)	T60A	probably benign	Het
Pramel44	A	G	5: 94,771,917 (GRCm39)	T16A	probably benign	Het
Prtg	G	A	9: 72,716,929 (GRCm39)	S90N	probably benign	Het
Rgs7bp	G	A	13: 105,100,618 (GRCm39)	T219M	probably damaging	Het
Scgb1b20	G	A	7: 33,072,998 (GRCm39)	D69N	probably benign	Het
Setd2	A	G	9: 110,379,619 (GRCm39)	T1145A	probably damaging	Het
Slc49a3	G	T	5: 108,589,864 (GRCm39)	P513T	probably benign	Het
Tmem145	A	G	7: 25,009,165 (GRCm39)	Q359R	probably benign	Het
Trmt5	C	A	12: 73,329,448 (GRCm39)	D237Y	probably damaging	Het
Vmn1r169	A	T	7: 23,277,390 (GRCm39)	I261F	probably benign	Het
Vmn1r19	A	T	6: 57,382,322 (GRCm39)	I292F	unknown	Het
Vmn2r66	T	C	7: 84,661,164 (GRCm39)	D22G	probably benign	Het
Vwa3b	T	A	1: 37,196,534 (GRCm39)		probably null	Het
Wbp4	T	A	14: 79,714,353 (GRCm39)	D53V	probably benign	Het
Xpo1	A	G	11: 23,241,550 (GRCm39)	I866V	probably benign	Het
Zan	G	A	5: 137,462,254 (GRCm39)	P975L	unknown	Het
Zdhhc19	G	A	16: 32,316,512 (GRCm39)	R89Q	probably benign	Het
Zer1	G	A	2: 30,001,297 (GRCm39)	T69I	probably benign	Het
Zfp827	C	T	8: 79,787,029 (GRCm39)	T65I	probably damaging	Het
Zswim9	A	G	7: 12,994,983 (GRCm39)	F391S	probably damaging	Het

Other mutations in Klrg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01970:Klrg2	APN	6	38,613,383 (GRCm39)	missense	probably damaging	0.97
R1707:Klrg2	UTSW	6	38,613,729 (GRCm39)	missense	possibly damaging	0.46
R2068:Klrg2	UTSW	6	38,613,928 (GRCm39)	missense	probably benign	0.14
R4849:Klrg2	UTSW	6	38,607,214 (GRCm39)	critical splice donor site	probably null
R4859:Klrg2	UTSW	6	38,604,540 (GRCm39)	makesense	probably null
R7529:Klrg2	UTSW	6	38,607,266 (GRCm39)	missense	probably damaging	1.00
R7782:Klrg2	UTSW	6	38,604,562 (GRCm39)	missense	possibly damaging	0.95
R7864:Klrg2	UTSW	6	38,605,024 (GRCm39)	missense	possibly damaging	0.58
R7887:Klrg2	UTSW	6	38,613,506 (GRCm39)	missense	probably damaging	1.00
R8431:Klrg2	UTSW	6	38,605,122 (GRCm39)	missense	probably benign	0.05
R8696:Klrg2	UTSW	6	38,613,430 (GRCm39)	missense	possibly damaging	0.95
R8812:Klrg2	UTSW	6	38,613,838 (GRCm39)	missense	probably damaging	0.99
R9761:Klrg2	UTSW	6	38,607,287 (GRCm39)	missense	probably damaging	0.99
Z1177:Klrg2	UTSW	6	38,613,851 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACCTATGAGCGTGATGGCC -3'
(R):5'- GAGAAGTCTCCGTCTCCAGC -3'

Sequencing Primer
(F):5'- CCGCGGCAGTTTCTTGC -3'
(R):5'- TACCGCCGCTCAGTCTG -3'

Posted On

2022-03-25