Mutagenetix > Incidental Mutations

Incidental Mutation 'R5825:Klra1'

450125

Institutional Source

Beutler Lab

Gene Symbol

Klra1

Ensembl Gene

ENSMUSG00000079853

Gene Name

killer cell lectin-like receptor, subfamily A, member 1

Synonyms

Ly49o<129>, Ly49A

MMRRC Submission

044053-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R5825 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

130363917-130386874 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130380629 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 12 (R12G)

Ref Sequence

ENSEMBL: ENSMUSP00000032288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032288]

Predicted Effect

probably damaging
Transcript: ENSMUST00000032288
AA Change: R12G

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

SMART Domains

Protein: ENSMUSP00000032288
Gene: ENSMUSG00000079853
AA Change: R12G

Domain	Start	End	E-Value	Type
Blast:CLECT	73	118	9e-8	BLAST
CLECT	139	254	4.02e-15	SMART

Coding Region Coverage

1x: 99.8%
3x: 99.1%
10x: 95.3%
20x: 83.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	A	T	15: 60,920,127	Y217*	probably null	Het
Abca2	A	T	2: 25,436,736	I567F	probably benign	Het
Acss2	T	A	2: 155,549,178		probably null	Het
Atxn7l2	C	A	3: 108,204,811	A320S	probably damaging	Het
Bfsp1	C	T	2: 143,827,459	G400D	probably benign	Het
Ces5a	G	T	8: 93,525,667	A199D	probably damaging	Het
Chd2	A	T	7: 73,484,602		probably null	Het
Crebbp	A	G	16: 4,087,742	V1705A	probably damaging	Het
Cyp2j8	T	A	4: 96,507,214	Q58L	probably benign	Het
Dlec1	T	A	9: 119,142,968	I1379N	probably damaging	Het
Dnah9	T	C	11: 66,126,601	H593R	probably benign	Het
Ep300	T	A	15: 81,611,472	C412S	probably benign	Het
Fam110a	A	G	2: 151,970,041	S270P	probably damaging	Het
Gcc2	A	G	10: 58,294,821	T1412A	probably damaging	Het
Gm4788	T	A	1: 139,774,598		probably null	Het
Helz2	T	C	2: 181,232,656	E2015G	probably benign	Het
Hormad1	T	C	3: 95,562,559	V39A	probably damaging	Het
Igf2	G	T	7: 142,653,855	H168Q	probably damaging	Het
Il18rap	A	G	1: 40,531,566	T223A	probably benign	Het
Itpr2	T	C	6: 146,144,149	E2573G	probably damaging	Het
Jcad	T	A	18: 4,674,896	V886E	probably benign	Het
Lamb1	A	G	12: 31,318,614	I1248V	probably benign	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Mapk7	C	T	11: 61,490,381	R465Q	possibly damaging	Het
Mogs	T	C	6: 83,118,212	V670A	possibly damaging	Het
Mroh2a	C	T	1: 88,230,680	R150*	probably null	Het
Ninl	A	T	2: 150,940,724	I1182N	probably damaging	Het
Nup160	A	G	2: 90,679,770		probably null	Het
Nynrin	A	G	14: 55,864,226	R451G	probably benign	Het
Olfr1126	A	G	2: 87,457,450	D95G	probably benign	Het
Olfr190	T	C	16: 59,074,661	I140V	probably benign	Het
Osbp	A	G	19: 11,970,721	T131A	probably damaging	Het
Pcdhga12	A	C	18: 37,768,503	D796A	possibly damaging	Het
Pcdhgb8	G	A	18: 37,762,236	V120I	probably benign	Het
Pdgfb	A	T	15: 79,997,668	V213E	probably benign	Het
Phldb2	T	C	16: 45,763,097	M1013V	probably benign	Het
Pnmal1	A	G	7: 16,961,095	S292G	probably benign	Het
Prrt4	A	G	6: 29,177,183	S196P	probably benign	Het
Rap1gds1	T	C	3: 138,955,375	M463V	possibly damaging	Het
Tmprss11g	A	T	5: 86,498,533	S58R	probably damaging	Het
Traf3	C	A	12: 111,255,361	Q319K	probably benign	Het
Trappc8	C	T	18: 20,873,920	V194M	probably damaging	Het
Tyw1	A	G	5: 130,268,088	K182R	probably damaging	Het
Usp48	A	G	4: 137,623,378	T585A	probably benign	Het
Xkr6	G	T	14: 63,819,032	V387L	probably benign	Het
Yod1	T	C	1: 130,719,006	W207R	probably damaging	Het
Zdhhc8	T	C	16: 18,228,674	S63G	probably null	Het
Zfp827	A	G	8: 79,179,016	E874G	probably damaging	Het
Zfy1	T	A	Y: 726,531	K411N	possibly damaging	Het

Other mutations in Klra1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01132:Klra1	APN	6	130364274	nonsense	probably null
IGL01320:Klra1	APN	6	130364261	missense	probably benign	0.02
IGL01322:Klra1	APN	6	130364261	missense	probably benign	0.02
IGL02149:Klra1	APN	6	130375330	missense	probably damaging	1.00
IGL02666:Klra1	APN	6	130364315	missense	probably damaging	1.00
IGL02895:Klra1	APN	6	130375240	missense	possibly damaging	0.51
R0004:Klra1	UTSW	6	130372873	missense	probably damaging	1.00
R0408:Klra1	UTSW	6	130377774	missense	probably benign	0.13
R0442:Klra1	UTSW	6	130372872	missense	probably damaging	1.00
R0498:Klra1	UTSW	6	130372819	critical splice donor site	probably null
R0765:Klra1	UTSW	6	130379092	splice site	probably benign
R1761:Klra1	UTSW	6	130372873	missense	probably damaging	1.00
R1922:Klra1	UTSW	6	130372865	missense	probably benign	0.01
R1987:Klra1	UTSW	6	130377779	missense	probably benign
R2882:Klra1	UTSW	6	130377863	splice site	probably null
R5054:Klra1	UTSW	6	130375284	missense	probably damaging	0.99
R5190:Klra1	UTSW	6	130375278	missense	probably damaging	1.00
R5572:Klra1	UTSW	6	130372839	missense	possibly damaging	0.73
R6784:Klra1	UTSW	6	130372854	missense	probably benign	0.00
Z1176:Klra1	UTSW	6	130372851	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AACTCAGCCCCGATGAGATG -3'
(R):5'- TGGGTCAGTCCATGTCAGTG -3'

Sequencing Primer
(F):5'- CCCCGATGAGATGGATCATTATAG -3'
(R):5'- GCATTAAGTGAGTTAGTCAGACCCC -3'

Posted On

2016-12-20