Mutagenetix > Incidental Mutation

Incidental Mutation 'R4747:Klra17'

357184

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

042029-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.047) question?

Stock #

R4747 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129808117-129853635 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129849232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 114 (D114V)

Ref Sequence

ENSEMBL: ENSMUSP00000114108 (fasta)

Gene Model

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

AlphaFold

Q9JMA4

Predicted Effect

probably damaging
Transcript: ENSMUST00000014687
AA Change: D114V

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000014687
Gene: ENSMUSG00000014543
AA Change: D114V

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: D114V

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114108
Gene: ENSMUSG00000014543
AA Change: D114V

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402D24Rik	A	G	1: 63,795,568 (GRCm39)		probably benign	Het
Acadvl	G	T	11: 69,903,334 (GRCm39)	N340K	probably damaging	Het
Adgrl4	T	A	3: 151,213,077 (GRCm39)	N372K	probably benign	Het
Adh1	G	A	3: 137,994,642 (GRCm39)	G321S	probably damaging	Het
Ankrd26	G	T	6: 118,504,718 (GRCm39)	N730K	probably benign	Het
Aoc2	A	T	11: 101,219,646 (GRCm39)		probably null	Het
Arhgef4	A	G	1: 34,762,355 (GRCm39)	E537G	unknown	Het
Ccdc7b	T	C	8: 129,904,716 (GRCm39)	V118A	probably benign	Het
Ccdc88b	T	A	19: 6,833,509 (GRCm39)	R219W	probably damaging	Het
Ccdc97	T	C	7: 25,418,348 (GRCm39)		probably null	Het
Cfhr4	A	T	1: 139,625,922 (GRCm39)	C792S	probably damaging	Het
Ciao3	A	T	17: 25,999,327 (GRCm39)	Y247F	probably benign	Het
Cnot1	T	C	8: 96,501,310 (GRCm39)	N86S	probably benign	Het
Comp	T	C	8: 70,829,352 (GRCm39)	C310R	probably damaging	Het
Crtc2	A	T	3: 90,167,518 (GRCm39)	N281Y	probably damaging	Het
Cryl1	T	C	14: 57,550,559 (GRCm39)	K102E	probably damaging	Het
Csf2ra	G	A	19: 61,214,491 (GRCm39)	R225*	probably null	Het
Dao	A	T	5: 114,150,693 (GRCm39)	D99V	probably benign	Het
Dgkd	A	G	1: 87,861,889 (GRCm39)	T815A	probably damaging	Het
Dhrs7	T	C	12: 72,699,892 (GRCm39)	T247A	probably benign	Het
Dnah7c	G	C	1: 46,572,328 (GRCm39)	D934H	probably damaging	Het
Dnajc15	T	C	14: 78,081,896 (GRCm39)	Y82C	probably benign	Het
Dnajc4	T	C	19: 6,966,872 (GRCm39)	Q152R	probably damaging	Het
Dsc1	T	C	18: 20,227,615 (GRCm39)	K541R	probably damaging	Het
Elp4	G	A	2: 105,624,952 (GRCm39)	R196C	probably damaging	Het
Epha8	GC	G	4: 136,666,006 (GRCm39)		probably null	Het
Ercc6	T	C	14: 32,291,864 (GRCm39)	V1076A	probably benign	Het
Fgd4	T	C	16: 16,241,793 (GRCm39)	Y677C	probably damaging	Het
Fndc3b	C	A	3: 27,483,114 (GRCm39)	C1028F	probably damaging	Het
Folr1	T	A	7: 101,513,184 (GRCm39)	D37V	probably damaging	Het
Gabrr3	T	A	16: 59,268,277 (GRCm39)		probably null	Het
Garem1	C	A	18: 21,263,000 (GRCm39)	V605L	probably benign	Het
Gbp7	A	T	3: 142,248,778 (GRCm39)	D347V	probably damaging	Het
Gdpd4	A	G	7: 97,610,840 (GRCm39)	T87A	possibly damaging	Het
Gm12258	C	A	11: 58,750,422 (GRCm39)	H532Q	probably damaging	Het
Herc2	A	G	7: 55,756,141 (GRCm39)	E727G	possibly damaging	Het
Hfm1	G	A	5: 107,065,389 (GRCm39)	H97Y	probably benign	Het
Idua	G	T	5: 108,828,902 (GRCm39)	R335L	probably damaging	Het
Ifi207	A	G	1: 173,556,633 (GRCm39)	S702P	probably benign	Het
Kif16b	A	T	2: 142,699,346 (GRCm39)	V78D	probably damaging	Het
Krt76	A	G	15: 101,794,180 (GRCm39)	S481P	probably damaging	Het
Lhfpl5	A	G	17: 28,798,950 (GRCm39)	D153G	probably damaging	Het
Med21	T	A	6: 146,550,700 (GRCm39)	D70E	possibly damaging	Het
Mroh3	A	T	1: 136,113,237 (GRCm39)	M739K	probably benign	Het
Myo1a	A	G	10: 127,550,307 (GRCm39)	E549G	probably damaging	Het
Neu1	A	G	17: 35,153,359 (GRCm39)	D294G	possibly damaging	Het
Nmur2	A	T	11: 55,931,105 (GRCm39)	I202K	probably benign	Het
Nop2	T	A	6: 125,114,057 (GRCm39)	D174E	probably benign	Het
Ogfr	A	T	2: 180,236,216 (GRCm39)	H267L	probably damaging	Het
Or10p1	G	T	10: 129,444,053 (GRCm39)	A99E	possibly damaging	Het
Or5m8	A	G	2: 85,822,271 (GRCm39)	T37A	probably damaging	Het
P2ry13	T	A	3: 59,117,308 (GRCm39)	I157F	probably benign	Het
Pank4	T	C	4: 155,063,989 (GRCm39)	V660A	probably damaging	Het
Pax6	C	A	2: 105,526,847 (GRCm39)	P251Q	probably benign	Het
Pcdhb13	T	C	18: 37,577,868 (GRCm39)	Y749H	probably damaging	Het
Pcdhga3	C	A	18: 37,809,799 (GRCm39)	Q751K	probably benign	Het
Pcnt	C	T	10: 76,272,299 (GRCm39)	E186K	possibly damaging	Het
Pecam1	A	T	11: 106,575,072 (GRCm39)	F613I	probably benign	Het
Pias2	T	C	18: 77,240,488 (GRCm39)	*615Q	probably null	Het
Plb1	A	T	5: 32,507,003 (GRCm39)	M1193L	probably benign	Het
Pomgnt1	T	C	4: 116,013,396 (GRCm39)	L506P	probably damaging	Het
Qrfp	T	C	2: 31,698,852 (GRCm39)	T27A	probably damaging	Het
Relb	C	A	7: 19,361,847 (GRCm39)		probably null	Het
Resf1	A	T	6: 149,228,392 (GRCm39)	E479D	probably damaging	Het
Rgl1	G	T	1: 152,400,450 (GRCm39)	C685*	probably null	Het
Ric8b	A	G	10: 84,753,628 (GRCm39)	Y8C	probably benign	Het
Rrp36	G	A	17: 46,980,893 (GRCm39)	A161V	possibly damaging	Het
Samd9l	G	A	6: 3,375,504 (GRCm39)	Q586*	probably null	Het
Sbf1	C	T	15: 89,186,916 (GRCm39)	D821N	probably damaging	Het
Septin8	G	C	11: 53,427,545 (GRCm39)	A255P	probably damaging	Het
Skp2	T	C	15: 9,113,927 (GRCm39)	T329A	possibly damaging	Het
Slc15a2	C	T	16: 36,592,498 (GRCm39)	V220M	probably damaging	Het
Slc25a11	T	A	11: 70,536,782 (GRCm39)	T63S	possibly damaging	Het
Sowahc	T	C	10: 59,058,983 (GRCm39)	I373T	probably benign	Het
Sptbn2	T	A	19: 4,798,182 (GRCm39)	M1969K	probably benign	Het
St14	G	A	9: 31,015,053 (GRCm39)	T315M	possibly damaging	Het
Tagap	G	A	17: 8,151,030 (GRCm39)	R284H	probably benign	Het
Tdpoz3	T	A	3: 93,733,476 (GRCm39)	S50R	possibly damaging	Het
Thoc5	A	G	11: 4,854,187 (GRCm39)	D182G	probably damaging	Het
Tinag	A	G	9: 76,904,238 (GRCm39)	V395A	probably benign	Het
Tmc8	A	G	11: 117,683,550 (GRCm39)	S702G	probably benign	Het
Tmem202	A	G	9: 59,426,477 (GRCm39)	S230P	possibly damaging	Het
Tmem203	T	C	2: 25,145,764 (GRCm39)	V28A	probably benign	Het
Traf3ip1	A	T	1: 91,455,479 (GRCm39)	S647C	probably damaging	Het
Tram1	A	T	1: 13,659,870 (GRCm39)	I26N	probably damaging	Het
Ttc6	A	T	12: 57,721,478 (GRCm39)	D989V	possibly damaging	Het
Ttll6	A	G	11: 96,036,372 (GRCm39)	T334A	possibly damaging	Het
Ttn	A	T	2: 76,750,086 (GRCm39)	D3654E	probably damaging	Het
Ufd1	T	G	16: 18,639,832 (GRCm39)	V112G	probably damaging	Het
Usp9y	A	T	Y: 1,391,284 (GRCm39)	Y629N	possibly damaging	Het
Vmn2r1	A	G	3: 63,989,267 (GRCm39)	I69V	probably benign	Het
Zfp180	A	T	7: 23,805,246 (GRCm39)	Y555F	probably damaging	Het
Zfp438	T	C	18: 5,214,403 (GRCm39)	N185S	probably benign	Het
Zfp445	C	T	9: 122,686,215 (GRCm39)	V15I	possibly damaging	Het
Zfp462	A	G	4: 55,013,476 (GRCm39)	E1814G	probably benign	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
R0583:Klra17	UTSW	6	129,845,656 (GRCm39)	missense	probably damaging	1.00
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
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'- CTTAAGCTCCTGGTTGGACTTC -3'
(R):5'- CCAGGCTGTGCTAAAACATATCTATG -3'

Sequencing Primer
(F):5'- GCTCCTGGTTGGACTTCAAAGC -3'
(R):5'- TGTCAAGATGAAGCTTTTTCTCATC -3'

Posted On

2015-11-11