Mutagenetix > Incidental Mutations

Incidental Mutation 'R4515:Nkx3-2'

332841

Institutional Source

Beutler Lab

Gene Symbol

Nkx3-2

Ensembl Gene

ENSMUSG00000049691

Gene Name

NK3 homeobox 2

Synonyms

Bapx1, Nkx-3.2

MMRRC Submission

041589-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4515 (G1)

Quality Score

171

Status

Validated

Chromosome

Chromosomal Location

41761483-41764501 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 41763938 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 3 (V3M)

Ref Sequence

ENSEMBL: ENSMUSP00000051990 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060820]

Predicted Effect

probably damaging
Transcript: ENSMUST00000060820
AA Change: V3M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000051990
Gene: ENSMUSG00000049691
AA Change: V3M

Domain	Start	End	E-Value	Type
low complexity region	56	67	N/A	INTRINSIC
HOX	206	268	1.47e-24	SMART
low complexity region	299	319	N/A	INTRINSIC

Meta Mutation Damage Score

0.1370

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 97.1%
20x: 94.6%

Validation Efficiency

96% (65/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the NK family of homeobox-containing proteins. The encoded protein may play a role in skeletal development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are perinatal lethal, lack a spleen, and display skeletal dysplasia of the vertebral column and cranium. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	G	T	5: 138,647,744	K630N	probably damaging	Het
Acss2	C	A	2: 155,556,363	L335I	probably benign	Het
Alg6	A	T	4: 99,752,786		probably benign	Het
Atp8b3	C	T	10: 80,523,847	M984I	probably benign	Het
Bsn	G	T	9: 108,104,078		probably null	Het
Ccdc88a	T	C	11: 29,482,651	I1219T	probably benign	Het
Cdhr4	G	A	9: 107,992,951	E52K	probably benign	Het
Ces1a	T	A	8: 93,020,904	N500Y	probably damaging	Het
Chd3	G	T	11: 69,349,877	R1579S	probably benign	Het
Chrnb3	T	C	8: 27,385,090	L39P	probably damaging	Het
Ckm	A	G	7: 19,420,284	K319E	probably damaging	Het
Cnot6	C	T	11: 49,702,536		probably null	Het
Copg1	A	G	6: 87,907,546		probably benign	Het
Dbn1	A	T	13: 55,476,229	I350N	possibly damaging	Het
Dnah2	A	G	11: 69,465,631	S2135P	possibly damaging	Het
Dsg2	C	A	18: 20,601,387	D807E	probably benign	Het
Fam122c	G	A	X: 53,293,499	R94H	possibly damaging	Het
Foxi1	A	G	11: 34,207,972	F18L	probably damaging	Het
Galnt3	C	A	2: 66,093,610	R438L	probably damaging	Het
Glod4	T	A	11: 76,243,571	D25V	probably damaging	Het
Gm11492	A	G	11: 87,568,057	H419R	probably benign	Het
Gm9008	C	T	6: 76,496,809	V275I	probably benign	Het
Golga4	T	A	9: 118,559,008	S1733T	probably benign	Het
H2-M10.3	C	T	17: 36,367,830		probably null	Het
Hemgn	T	C	4: 46,396,477	E253G	probably damaging	Het
Itsn1	G	A	16: 91,899,649	V47M	probably damaging	Het
Kif5b	A	G	18: 6,208,257	V947A	probably benign	Het
Kif9	A	G	9: 110,489,867	H133R	probably benign	Het
Lce1l	T	C	3: 92,850,474	T26A	unknown	Het
Macf1	T	C	4: 123,493,988	E1172G	probably damaging	Het
Nr2e1	G	A	10: 42,578,191	T49I	probably benign	Het
Oc90	A	G	15: 65,892,393	L138P	probably damaging	Het
Olfr834	T	G	9: 18,987,982		probably null	Het
Olfr954	C	T	9: 39,462,231	R264*	probably null	Het
Orc4	G	A	2: 48,937,489	P31S	probably benign	Het
Paqr3	T	A	5: 97,103,361	N168I	possibly damaging	Het
Pcdhac1	T	A	18: 37,091,379	I415N	probably damaging	Het
Pdik1l	T	C	4: 134,278,896	N75S	probably damaging	Het
Pik3r4	A	G	9: 105,672,725	H1005R	probably damaging	Het
Plekhn1	T	C	4: 156,225,531	S109G	probably damaging	Het
Prkch	A	G	12: 73,702,838	T402A	possibly damaging	Het
Ptger4	C	A	15: 5,242,379	R253L	probably damaging	Het
Rabac1	A	T	7: 24,970,160	Y173*	probably null	Het
Rapsn	G	A	2: 91,043,212	V288M	possibly damaging	Het
Sec31a	A	G	5: 100,365,958	S993P	probably damaging	Het
Serpina9	T	A	12: 104,001,294	M281L	probably benign	Het
Serpine1	G	A	5: 137,069,468	A117V	probably damaging	Het
Sh3tc2	A	G	18: 61,987,693		probably null	Het
Sipa1l2	T	C	8: 125,492,226	D124G	probably benign	Het
Slc6a12	T	A	6: 121,353,530		probably null	Het
Stk11	A	G	10: 80,116,601		probably benign	Het
Tcaf3	A	G	6: 42,589,996	Y720H	probably damaging	Het
Tmem38a	C	T	8: 72,572,161	P20S	possibly damaging	Het
Tmprss11a	C	T	5: 86,420,196	R224K	probably damaging	Het
Tmprss15	C	T	16: 78,957,356	S988N	probably benign	Het
Txn2	A	T	15: 77,915,443		probably null	Het
Ugt1a10	T	A	1: 88,056,197	V239E	probably damaging	Het
Vmn2r102	A	G	17: 19,681,213	Y534C	probably damaging	Het
Vmn2r78	A	T	7: 86,954,258	D548V	probably damaging	Het

Other mutations in Nkx3-2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0690:Nkx3-2	UTSW	5	41762127	missense	probably damaging	0.98
R3926:Nkx3-2	UTSW	5	41761880	missense	probably damaging	1.00
R4058:Nkx3-2	UTSW	5	41762063	missense	possibly damaging	0.60
R4489:Nkx3-2	UTSW	5	41761961	missense	probably damaging	1.00
R4732:Nkx3-2	UTSW	5	41762144	missense	probably benign	0.18
R4733:Nkx3-2	UTSW	5	41762144	missense	probably benign	0.18
R5067:Nkx3-2	UTSW	5	41761877	missense	probably damaging	1.00
R5265:Nkx3-2	UTSW	5	41761848	missense	probably benign	0.03
R7129:Nkx3-2	UTSW	5	41761674	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGCCAGAAGAGAGTCCTCG -3'
(R):5'- CCACGGGCGAAGAGATAATC -3'

Sequencing Primer
(F):5'- AAGAGAGTCCTCGGCGCC -3'
(R):5'- ATAATCGGCCGGGCTGTAG -3'

Posted On

2015-08-18