Mutagenetix > Incidental Mutation

Incidental Mutation 'R0583:Klra17'

56506

Institutional Source

Beutler Lab

Gene Symbol

Klra17

Ensembl Gene

ENSMUSG00000014543

Gene Name

killer cell lectin-like receptor, subfamily A, member 17

Synonyms

Ly49q1, Ly49Q, Ly-49Q

MMRRC Submission

038773-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R0583 (G1)

Quality Score

200

Status

Not validated

Chromosome

Chromosomal Location

129808117-129853635 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129845656 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 186 (D186V)

Ref Sequence

ENSEMBL: ENSMUSP00000114108 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014687] [ENSMUST00000122219] [ENSMUST00000171980]

AlphaFold

Q9JMA4

Predicted Effect

probably damaging
Transcript: ENSMUST00000014687
AA Change: D186V

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

SMART Domains

Protein: ENSMUSP00000014687
Gene: ENSMUSG00000014543
AA Change: D186V

Domain	Start	End	E-Value	Type
low complexity region	52	69	N/A	INTRINSIC
Blast:CLECT	73	126	2e-12	BLAST
CLECT	144	259	1.5e-14	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000122219
AA Change: D186V

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

SMART Domains

Protein: ENSMUSP00000114108
Gene: ENSMUSG00000014543
AA Change: D186V

Domain	Start	End	E-Value	Type
low complexity region	53	70	N/A	INTRINSIC
Blast:CLECT	74	127	2e-12	BLAST
CLECT	145	260	1.5e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171980

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.1%
20x: 93.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-in allele exhibit reduced plasmacytoid dendritic cell number and function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	G	9: 57,164,926 (GRCm39)	S483P	probably benign	Het
5730480H06Rik	A	G	5: 48,537,470 (GRCm39)	H169R	probably damaging	Het
Actn1	T	A	12: 80,245,803 (GRCm39)	I127F	probably damaging	Het
Cadm3	T	G	1: 173,168,738 (GRCm39)	T277P	probably benign	Het
Cast	T	C	13: 74,861,797 (GRCm39)	T629A	probably damaging	Het
Cblc	C	A	7: 19,526,486 (GRCm39)	C201F	probably benign	Het
Ccdc154	T	A	17: 25,387,398 (GRCm39)	D375E	possibly damaging	Het
Cdk6	A	G	5: 3,523,183 (GRCm39)	D201G	probably damaging	Het
Cep95	T	C	11: 106,705,449 (GRCm39)	V478A	probably benign	Het
Ciita	T	C	16: 10,341,668 (GRCm39)		probably null	Het
Clec4e	A	G	6: 123,260,653 (GRCm39)	F135S	probably damaging	Het
Cntn6	A	G	6: 104,753,275 (GRCm39)	D337G	possibly damaging	Het
Crlf3	A	T	11: 79,950,107 (GRCm39)	H174Q	probably damaging	Het
Cyb5r1	T	A	1: 134,335,339 (GRCm39)	F93I	probably damaging	Het
Dop1b	T	C	16: 93,552,374 (GRCm39)	I271T	probably benign	Het
Duxf1	G	A	10: 58,059,210 (GRCm39)	L515F	probably damaging	Het
Fcho1	T	C	8: 72,168,369 (GRCm39)	Y218C	probably damaging	Het
Fhad1	C	T	4: 141,631,301 (GRCm39)	M1297I	probably benign	Het
Igdcc4	T	C	9: 65,029,095 (GRCm39)	V244A	possibly damaging	Het
Ikzf5	A	G	7: 130,993,514 (GRCm39)		probably null	Het
Ilvbl	T	A	10: 78,419,101 (GRCm39)	V450E	probably damaging	Het
Kcns3	T	G	12: 11,141,479 (GRCm39)	N407H	probably damaging	Het
Klhl11	T	C	11: 100,355,150 (GRCm39)	K224E	possibly damaging	Het
Lrrc37a	T	C	11: 103,389,263 (GRCm39)	D2054G	probably benign	Het
Mef2a	G	T	7: 66,884,896 (GRCm39)	S406*	probably null	Het
Mrgbp	A	G	2: 180,226,239 (GRCm39)	N104S	probably benign	Het
Mroh2a	GT	GTT	1: 88,183,888 (GRCm39)		probably null	Het
Muc5ac	C	A	7: 141,361,345 (GRCm39)	T1552N	probably damaging	Het
Muc5b	T	A	7: 141,410,435 (GRCm39)	Y1269*	probably null	Het
Myef2	T	C	2: 124,939,901 (GRCm39)		probably null	Het
Myg1	C	T	15: 102,246,225 (GRCm39)	Q367*	probably null	Het
Nalcn	T	C	14: 123,531,755 (GRCm39)	N1365S	possibly damaging	Het
Nfu1	T	C	6: 86,986,934 (GRCm39)	C18R	probably benign	Het
Nkx2-6	A	T	14: 69,412,228 (GRCm39)	Q132L	probably damaging	Het
Or10a3b	C	T	7: 108,444,621 (GRCm39)	A199T	possibly damaging	Het
Or8k38	T	A	2: 86,488,704 (GRCm39)	I33F	probably benign	Het
Pak3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	X: 142,526,889 (GRCm39)		probably benign	Het
Prh1	A	T	6: 132,548,796 (GRCm39)	Q101L	unknown	Het
Ribc2	A	T	15: 85,017,115 (GRCm39)		probably null	Het
Rnf19a	C	A	15: 36,253,151 (GRCm39)	R396L	probably damaging	Het
Sdad1	A	G	5: 92,452,923 (GRCm39)	I105T	probably damaging	Het
Sec24b	G	T	3: 129,834,960 (GRCm39)	Y79*	probably null	Het
Tatdn2	A	G	6: 113,679,486 (GRCm39)	E277G	possibly damaging	Het
Tex10	A	C	4: 48,451,952 (GRCm39)	F725V	probably damaging	Het
Themis3	T	C	17: 66,866,748 (GRCm39)	D164G	probably benign	Het
Ubxn7	T	C	16: 32,194,732 (GRCm39)	W220R	probably damaging	Het
Usp33	C	A	3: 152,073,891 (GRCm39)	R246S	probably damaging	Het
Vmn2r102	T	A	17: 19,897,043 (GRCm39)	V130E	probably benign	Het
Vmn2r112	C	T	17: 22,837,930 (GRCm39)	P797L	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Yme1l1	T	C	2: 23,076,262 (GRCm39)	V340A	probably damaging	Het
Zfta	A	G	19: 7,397,639 (GRCm39)	D62G	probably damaging	Het

Other mutations in Klra17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00727:Klra17	APN	6	129,808,472 (GRCm39)	missense	probably benign	0.12
IGL02084:Klra17	APN	6	129,808,556 (GRCm39)	missense	probably damaging	1.00
IGL02995:Klra17	APN	6	129,845,647 (GRCm39)	critical splice donor site	probably null
IGL03238:Klra17	APN	6	129,845,773 (GRCm39)	missense	probably benign	0.43
R0118:Klra17	UTSW	6	129,808,552 (GRCm39)	missense	probably benign	0.01
R1103:Klra17	UTSW	6	129,845,806 (GRCm39)	unclassified	probably benign
R1378:Klra17	UTSW	6	129,842,647 (GRCm39)	missense	probably damaging	0.96
R1513:Klra17	UTSW	6	129,849,277 (GRCm39)	missense	possibly damaging	0.61
R1817:Klra17	UTSW	6	129,845,681 (GRCm39)	splice site	probably null
R2262:Klra17	UTSW	6	129,851,757 (GRCm39)	critical splice donor site	probably null
R2446:Klra17	UTSW	6	129,808,477 (GRCm39)	missense	probably benign	0.02
R2484:Klra17	UTSW	6	129,845,720 (GRCm39)	missense	probably damaging	1.00
R3410:Klra17	UTSW	6	129,851,809 (GRCm39)	missense	probably damaging	0.99
R3411:Klra17	UTSW	6	129,851,809 (GRCm39)	missense	probably damaging	0.99
R3739:Klra17	UTSW	6	129,850,328 (GRCm39)	missense	probably benign	0.03
R4747:Klra17	UTSW	6	129,849,232 (GRCm39)	missense	probably damaging	0.97
R4956:Klra17	UTSW	6	129,850,279 (GRCm39)	missense	probably damaging	1.00
R5079:Klra17	UTSW	6	129,849,159 (GRCm39)	missense	possibly damaging	0.72
R5310:Klra17	UTSW	6	129,845,671 (GRCm39)	missense	probably damaging	1.00
R5366:Klra17	UTSW	6	129,851,858 (GRCm39)	missense	possibly damaging	0.89
R5875:Klra17	UTSW	6	129,851,791 (GRCm39)	missense	probably benign	0.01
R6043:Klra17	UTSW	6	129,849,150 (GRCm39)	critical splice donor site	probably null
R6515:Klra17	UTSW	6	129,808,462 (GRCm39)	missense	probably damaging	1.00
R6675:Klra17	UTSW	6	129,849,286 (GRCm39)	missense	probably damaging	0.99
R7201:Klra17	UTSW	6	129,850,306 (GRCm39)	missense	possibly damaging	0.62
R7296:Klra17	UTSW	6	129,808,555 (GRCm39)	missense	possibly damaging	0.95
R8141:Klra17	UTSW	6	129,849,292 (GRCm39)	missense	probably damaging	1.00
R8260:Klra17	UTSW	6	129,808,421 (GRCm39)	missense	probably damaging	0.99
R8399:Klra17	UTSW	6	129,851,900 (GRCm39)	splice site	probably benign
R8503:Klra17	UTSW	6	129,845,777 (GRCm39)	missense	probably benign	0.02
R8694:Klra17	UTSW	6	129,851,780 (GRCm39)	missense	probably benign	0.00
R8861:Klra17	UTSW	6	129,851,865 (GRCm39)	missense	probably damaging	0.99
R9188:Klra17	UTSW	6	129,808,523 (GRCm39)	missense	probably damaging	1.00
R9211:Klra17	UTSW	6	129,842,651 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- ACAGACCCGTGTTCCACAGTCTTAG -3'
(R):5'- TGGTGGTGACCCTACAGTCTTTCTC -3'

Sequencing Primer
(F):5'- TCCAGGGTTACAGACAGAGTCT -3'
(R):5'- gctgggctgattcatttcac -3'

Posted On

2013-07-11