Mutagenetix > Incidental Mutation

Incidental Mutation 'R7557:Klrc3'

584832

Institutional Source

Beutler Lab

Gene Symbol

Klrc3

Ensembl Gene

ENSMUSG00000033027

Gene Name

killer cell lectin-like receptor subfamily C, member 3

Synonyms

NKG2E

MMRRC Submission

045652-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R7557 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129616027-129620300 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129616107 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 203 (T203A)

Ref Sequence

ENSEMBL: ENSMUSP00000071147 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071149] [ENSMUST00000170148] [ENSMUST00000203189]

AlphaFold

Q9QXN7

Predicted Effect

probably damaging
Transcript: ENSMUST00000071149
AA Change: T203A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000071147
Gene: ENSMUSG00000033027
AA Change: T203A

Domain	Start	End	E-Value	Type
transmembrane domain	66	88	N/A	INTRINSIC
CLECT	105	216	1.96e-18	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000170148
AA Change: T195A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129830
Gene: ENSMUSG00000033027
AA Change: T195A

Domain	Start	End	E-Value	Type
transmembrane domain	66	88	N/A	INTRINSIC
CLECT	97	208	1.96e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000203189

SMART Domains

Protein: ENSMUSP00000144993
Gene: ENSMUSG00000033027

Domain	Start	End	E-Value	Type
transmembrane domain	66	88	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,774,044 (GRCm39)	Q1078*	probably null	Het
Aatk	T	C	11: 119,900,256 (GRCm39)	K1310R	possibly damaging	Het
Acaa2	C	T	18: 74,928,230 (GRCm39)	T153M	possibly damaging	Het
Add3	A	G	19: 53,227,868 (GRCm39)	T518A	probably damaging	Het
Cacnb4	T	C	2: 52,359,579 (GRCm39)	E143G	probably damaging	Het
Cd209a	T	A	8: 3,795,541 (GRCm39)	T177S	probably benign	Het
Chp1	T	A	2: 119,391,238 (GRCm39)	Y32N	probably damaging	Het
Clcn3	T	C	8: 61,390,402 (GRCm39)	T180A	probably damaging	Het
Dctn2	C	A	10: 127,114,273 (GRCm39)	T373N	probably benign	Het
Dipk2a	T	C	9: 94,402,591 (GRCm39)	D357G	probably damaging	Het
Ecpas	A	G	4: 58,849,691 (GRCm39)	Y483H	possibly damaging	Het
Emb	T	A	13: 117,386,252 (GRCm39)	N136K	probably benign	Het
Enpp2	A	T	15: 54,773,536 (GRCm39)	C62S	probably damaging	Het
Fbxo28	G	T	1: 182,169,000 (GRCm39)	A52E	unknown	Het
Gask1b	A	T	3: 79,793,915 (GRCm39)	K128*	probably null	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Ggta1	T	C	2: 35,292,548 (GRCm39)	D253G	probably damaging	Het
Gps1	C	T	11: 120,677,193 (GRCm39)	A164V	probably benign	Het
Gramd4	C	T	15: 85,985,101 (GRCm39)	Q146*	probably null	Het
Kcnh5	A	T	12: 75,054,399 (GRCm39)	M515K	possibly damaging	Het
Krt26	G	T	11: 99,225,567 (GRCm39)	R305S	probably damaging	Het
Lpin1	A	G	12: 16,630,793 (GRCm39)	V35A		Het
Marf1	C	T	16: 13,950,560 (GRCm39)	R942H	probably damaging	Het
Mfhas1	T	A	8: 36,056,758 (GRCm39)	M411K	possibly damaging	Het
Mok	A	G	12: 110,774,833 (GRCm39)	S330P	probably benign	Het
Msto1	A	G	3: 88,817,435 (GRCm39)		probably null	Het
Omg	T	A	11: 79,393,679 (GRCm39)	I60F	possibly damaging	Het
Or10w1	T	A	19: 13,632,390 (GRCm39)	I199N	possibly damaging	Het
Pcdhgb4	T	A	18: 37,855,847 (GRCm39)	C747*	probably null	Het
Pih1d1	A	G	7: 44,806,183 (GRCm39)	T40A	probably benign	Het
Pih1d2	A	T	9: 50,536,216 (GRCm39)	E290D	probably damaging	Het
Plce1	A	G	19: 38,753,848 (GRCm39)	K1849E	probably benign	Het
Plekha5	T	C	6: 140,372,271 (GRCm39)	Y74H	probably damaging	Het
Pole	T	G	5: 110,460,860 (GRCm39)	I1183S	probably damaging	Het
Ptgs1	T	C	2: 36,135,223 (GRCm39)	S396P	possibly damaging	Het
Rasa2	T	C	9: 96,439,478 (GRCm39)	E575G	probably damaging	Het
Sec22b	A	G	3: 97,808,674 (GRCm39)	T5A	probably damaging	Het
Slc18a1	T	A	8: 69,518,213 (GRCm39)	D267V	probably damaging	Het
Smad5	T	C	13: 56,875,282 (GRCm39)	F157L	probably benign	Het
Tcea1	T	A	1: 4,965,213 (GRCm39)	C294*	probably null	Het
Tut7	T	C	13: 59,936,280 (GRCm39)	I1274V	possibly damaging	Het
Txndc15	T	A	13: 55,865,767 (GRCm39)	M77K	probably benign	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Vmn2r1	T	A	3: 63,997,475 (GRCm39)	V377D	probably damaging	Het
Vmn2r7	A	G	3: 64,632,394 (GRCm39)	Y23H	probably benign	Het
Vwa3a	T	A	7: 120,394,841 (GRCm39)	M887K	possibly damaging	Het
Zbtb5	T	C	4: 44,995,196 (GRCm39)	N63D	probably damaging	Het

Other mutations in Klrc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00754:Klrc3	APN	6	129,618,389 (GRCm39)	missense	probably damaging	1.00
IGL01311:Klrc3	APN	6	129,618,375 (GRCm39)	missense	probably damaging	1.00
IGL02634:Klrc3	APN	6	129,620,171 (GRCm39)	missense	probably damaging	0.99
IGL02806:Klrc3	APN	6	129,616,065 (GRCm39)	missense	possibly damaging	0.52
R1568:Klrc3	UTSW	6	129,616,510 (GRCm39)	missense	probably benign	0.01
R2132:Klrc3	UTSW	6	129,618,501 (GRCm39)	missense	probably benign
R2517:Klrc3	UTSW	6	129,616,520 (GRCm39)	missense	probably damaging	1.00
R3833:Klrc3	UTSW	6	129,620,181 (GRCm39)	missense	probably damaging	0.99
R4355:Klrc3	UTSW	6	129,616,125 (GRCm39)	missense	probably benign	0.09
R5085:Klrc3	UTSW	6	129,616,538 (GRCm39)	missense	probably damaging	0.99
R5247:Klrc3	UTSW	6	129,618,425 (GRCm39)	missense	probably damaging	1.00
R5426:Klrc3	UTSW	6	129,618,513 (GRCm39)	missense	probably benign	0.04
R9168:Klrc3	UTSW	6	129,616,142 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGGCTTACTATACTCCAATGC -3'
(R):5'- GAGGATGCTATTGCTGACATTC -3'

Sequencing Primer
(F):5'- TGCTTGTTTTTGAAAGAAATGTGTC -3'
(R):5'- GGATGCTATTGCTGACATTCATGAC -3'

Posted On

2019-10-17