Mutagenetix > Incidental Mutation

Incidental Mutation 'R7680:Ncr1'

592696

Institutional Source

Beutler Lab

Gene Symbol

Ncr1

Ensembl Gene

ENSMUSG00000062524

Gene Name

natural cytotoxicity triggering receptor 1

Synonyms

Ly94, NKp46, MAR1 (mouse activating receptor 1), Cd335

MMRRC Submission

045746-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R7680 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4340723-4348163 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4341123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 38 (M38K)

Ref Sequence

ENSEMBL: ENSMUSP00000006792 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006792] [ENSMUST00000126417]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006792
AA Change: M38K

PolyPhen 2 Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000006792
Gene: ENSMUSG00000062524
AA Change: M38K

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
IG	34	118	5.21e-2	SMART
IG	129	211	1.49e-2	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000126417
AA Change: M1K

PolyPhen 2 Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (53/53)

MGI Phenotype

PHENOTYPE: Mutations in this gene lead to alterations in susceptibility to viral infection induced morbidity/mortality, NK cell number, NK cell cytolysis, and T cell responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510002D24Rik	A	G	16: 18,657,958 (GRCm39)	D104G	possibly damaging	Het
Ahi1	G	T	10: 20,883,667 (GRCm39)	C844F	possibly damaging	Het
Bspry	T	C	4: 62,414,828 (GRCm39)	*474Q	probably null	Het
Car9	T	A	4: 43,507,250 (GRCm39)	D65E	probably damaging	Het
Ccdc110	T	A	8: 46,394,688 (GRCm39)	M193K	possibly damaging	Het
Ccdc166	A	G	15: 75,853,056 (GRCm39)	S304P	possibly damaging	Het
Cdcp1	T	C	9: 123,012,584 (GRCm39)	Q321R	probably damaging	Het
Cic	T	C	7: 24,991,856 (GRCm39)	V2255A	probably damaging	Het
Cmc2	A	T	8: 117,620,849 (GRCm39)	M44K	probably damaging	Het
Crls1	A	G	2: 132,704,258 (GRCm39)	T223A	probably damaging	Het
Ctnna3	A	T	10: 64,323,329 (GRCm39)	H488L	probably benign	Het
Cyp2r1	A	T	7: 114,152,054 (GRCm39)	I301N	probably damaging	Het
Dkk3	A	T	7: 111,718,570 (GRCm39)	L272Q	probably damaging	Het
Dnah14	A	G	1: 181,513,365 (GRCm39)	N1906S	probably benign	Het
Gm13271	T	C	4: 88,673,367 (GRCm39)	V88A	probably benign	Het
Gphn	C	A	12: 78,459,148 (GRCm39)	L79I	probably benign	Het
Gpr15	A	T	16: 58,538,328 (GRCm39)	W254R	probably damaging	Het
H2-M2	T	C	17: 37,793,916 (GRCm39)	R103G	possibly damaging	Het
Hcn4	T	C	9: 58,767,954 (GRCm39)	S1172P	probably benign	Het
Htr1a	A	G	13: 105,581,539 (GRCm39)	S260G	probably benign	Het
Iftap	T	C	2: 101,440,901 (GRCm39)	E34G	probably damaging	Het
Kif21b	G	T	1: 136,075,607 (GRCm39)		probably null	Het
Lamp1	T	C	8: 13,217,812 (GRCm39)	Y131H	probably benign	Het
Lrrc47	A	C	4: 154,100,558 (GRCm39)	N378T	probably benign	Het
Manea	A	T	4: 26,340,649 (GRCm39)	H104Q	probably damaging	Het
Map4k3	A	G	17: 80,889,305 (GRCm39)	I888T	probably benign	Het
Mark3	T	C	12: 111,613,207 (GRCm39)	M557T	probably benign	Het
Muc6	G	C	7: 141,217,659 (GRCm39)	P2338R	probably damaging	Het
Myh6	C	A	14: 55,186,190 (GRCm39)	C1413F	possibly damaging	Het
Myorg	C	A	4: 41,497,978 (GRCm39)	D551Y	probably damaging	Het
Nid2	A	G	14: 19,829,715 (GRCm39)	T669A	probably damaging	Het
Or6e1	T	A	14: 54,519,837 (GRCm39)	I172F	probably damaging	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Plekha7	A	G	7: 115,763,511 (GRCm39)	Y364H	probably benign	Het
Plxnb1	T	A	9: 108,929,571 (GRCm39)	Y142*	probably null	Het
Ptprn	T	C	1: 75,224,537 (GRCm39)	I940V	probably benign	Het
Rnf213	T	C	11: 119,370,382 (GRCm39)	V4728A		Het
Samd9l	A	T	6: 3,372,569 (GRCm39)	L1564Q	probably damaging	Het
Samd9l	A	G	6: 3,376,469 (GRCm39)	I264T	probably damaging	Het
Slc16a7	T	C	10: 125,066,805 (GRCm39)	D278G	probably benign	Het
Slc35f2	T	A	9: 53,715,396 (GRCm39)	V214E	probably damaging	Het
Slc7a5	A	C	8: 122,634,006 (GRCm39)	S114A	probably damaging	Het
St6galnac3	A	G	3: 152,911,047 (GRCm39)	S305P	probably damaging	Het
Stat1	G	A	1: 52,183,368 (GRCm39)	R378Q	probably damaging	Het
Tnfrsf9	T	G	4: 151,014,395 (GRCm39)	C31W	probably damaging	Het
Tnk1	T	C	11: 69,747,571 (GRCm39)	E61G	possibly damaging	Het
Tnks1bp1	T	A	2: 84,889,585 (GRCm39)	D637E	probably benign	Het
Ttc17	C	T	2: 94,196,889 (GRCm39)	G486D	probably benign	Het
Vmn1r30	T	A	6: 58,412,284 (GRCm39)	R183*	probably null	Het
Vmn2r78	A	G	7: 86,604,149 (GRCm39)	T776A	probably damaging	Het
Wrap73	A	G	4: 154,241,079 (GRCm39)	E444G	probably benign	Het
Zc3h13	C	T	14: 75,567,955 (GRCm39)	R1083C	probably damaging	Het
Zfp189	A	G	4: 49,521,547 (GRCm39)		probably benign	Het

Other mutations in Ncr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00832:Ncr1	APN	7	4,344,287 (GRCm39)	missense	possibly damaging	0.50
IGL01994:Ncr1	APN	7	4,344,253 (GRCm39)	missense	probably benign	0.16
IGL02163:Ncr1	APN	7	4,344,262 (GRCm39)	missense	possibly damaging	0.86
IGL02610:Ncr1	APN	7	4,341,132 (GRCm39)	missense	probably benign	0.42
IGL02885:Ncr1	APN	7	4,341,225 (GRCm39)	missense	probably damaging	1.00
IGL03082:Ncr1	APN	7	4,344,241 (GRCm39)	splice site	probably benign
R0196:Ncr1	UTSW	7	4,343,972 (GRCm39)	missense	probably damaging	1.00
R1172:Ncr1	UTSW	7	4,341,120 (GRCm39)	missense	probably benign	0.19
R1758:Ncr1	UTSW	7	4,343,807 (GRCm39)	missense	probably benign	0.40
R2065:Ncr1	UTSW	7	4,341,206 (GRCm39)	missense	probably benign	0.00
R2135:Ncr1	UTSW	7	4,343,756 (GRCm39)	splice site	probably benign
R2397:Ncr1	UTSW	7	4,341,260 (GRCm39)	missense	probably benign	0.22
R5389:Ncr1	UTSW	7	4,343,932 (GRCm39)	missense	probably benign	0.01
R5648:Ncr1	UTSW	7	4,347,519 (GRCm39)	missense	probably damaging	0.97
R5690:Ncr1	UTSW	7	4,341,296 (GRCm39)	missense	probably damaging	1.00
R5817:Ncr1	UTSW	7	4,343,894 (GRCm39)	missense	possibly damaging	0.59
R5847:Ncr1	UTSW	7	4,347,573 (GRCm39)	missense	probably benign	0.04
R7033:Ncr1	UTSW	7	4,341,144 (GRCm39)	missense	possibly damaging	0.59
R7391:Ncr1	UTSW	7	4,347,470 (GRCm39)	missense	possibly damaging	0.86
R7395:Ncr1	UTSW	7	4,341,150 (GRCm39)	missense	probably damaging	1.00
R8163:Ncr1	UTSW	7	4,343,828 (GRCm39)	missense	probably damaging	1.00
R8472:Ncr1	UTSW	7	4,341,120 (GRCm39)	missense	probably benign	0.19
R8782:Ncr1	UTSW	7	4,340,763 (GRCm39)	missense	probably benign	0.01
R8880:Ncr1	UTSW	7	4,341,336 (GRCm39)	missense	probably benign	0.00
R9066:Ncr1	UTSW	7	4,347,552 (GRCm39)	missense	probably benign	0.13
R9789:Ncr1	UTSW	7	4,344,300 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGGTCCATCTGAGAACATCCAG -3'
(R):5'- GGTTGCTCGACTTTGACCAGAG -3'

Sequencing Primer
(F):5'- GTCCATCTGAGAACATCCAGAGACG -3'
(R):5'- TCTCCACTCTGATAGAAGCAGGTG -3'

Posted On

2019-11-12