Mutagenetix > Incidental Mutation

Incidental Mutation 'R4515:Nkx3-2'

332841

Institutional Source

Beutler Lab

Gene Symbol

Nkx3-2

Ensembl Gene

ENSMUSG00000049691

Gene Name

NK3 homeobox 2

Synonyms

Nkx-3.2, Bapx1

MMRRC Submission

041589-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4515 (G1)

Quality Score

171

Status

Validated

Chromosome

Chromosomal Location

41918826-41921563 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 41921281 bp (GRCm39)

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]

AlphaFold

P97503

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: 138,646,006 (GRCm39)	K630N	probably damaging	Het
Acss2	C	A	2: 155,398,283 (GRCm39)	L335I	probably benign	Het
Alg6	A	T	4: 99,641,023 (GRCm39)		probably benign	Het
Atp8b3	C	T	10: 80,359,681 (GRCm39)	M984I	probably benign	Het
Bsn	G	T	9: 107,981,277 (GRCm39)		probably null	Het
Ccdc88a	T	C	11: 29,432,651 (GRCm39)	I1219T	probably benign	Het
Cdhr4	G	A	9: 107,870,150 (GRCm39)	E52K	probably benign	Het
Ces1a	T	A	8: 93,747,532 (GRCm39)	N500Y	probably damaging	Het
Chd3	G	T	11: 69,240,703 (GRCm39)	R1579S	probably benign	Het
Chrnb3	T	C	8: 27,875,118 (GRCm39)	L39P	probably damaging	Het
Ckm	A	G	7: 19,154,209 (GRCm39)	K319E	probably damaging	Het
Cnot6	C	T	11: 49,593,363 (GRCm39)		probably null	Het
Copg1	A	G	6: 87,884,528 (GRCm39)		probably benign	Het
Dbn1	A	T	13: 55,624,042 (GRCm39)	I350N	possibly damaging	Het
Dnah2	A	G	11: 69,356,457 (GRCm39)	S2135P	possibly damaging	Het
Dsg2	C	A	18: 20,734,444 (GRCm39)	D807E	probably benign	Het
Foxi1	A	G	11: 34,157,972 (GRCm39)	F18L	probably damaging	Het
Galnt3	C	A	2: 65,923,954 (GRCm39)	R438L	probably damaging	Het
Glod4	T	A	11: 76,134,397 (GRCm39)	D25V	probably damaging	Het
Golga4	T	A	9: 118,388,076 (GRCm39)	S1733T	probably benign	Het
H2-M10.3	C	T	17: 36,678,722 (GRCm39)		probably null	Het
Hemgn	T	C	4: 46,396,477 (GRCm39)	E253G	probably damaging	Het
Itsn1	G	A	16: 91,696,537 (GRCm39)	V47M	probably damaging	Het
Kif5b	A	G	18: 6,208,257 (GRCm39)	V947A	probably benign	Het
Kif9	A	G	9: 110,318,935 (GRCm39)	H133R	probably benign	Het
Lce1l	T	C	3: 92,757,781 (GRCm39)	T26A	unknown	Het
Macf1	T	C	4: 123,387,781 (GRCm39)	E1172G	probably damaging	Het
Nr2e1	G	A	10: 42,454,187 (GRCm39)	T49I	probably benign	Het
Oc90	A	G	15: 65,764,242 (GRCm39)	L138P	probably damaging	Het
Or7g12	T	G	9: 18,899,278 (GRCm39)		probably null	Het
Or8g34	C	T	9: 39,373,527 (GRCm39)	R264*	probably null	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Paqr3	T	A	5: 97,251,220 (GRCm39)	N168I	possibly damaging	Het
Pcdhac1	T	A	18: 37,224,432 (GRCm39)	I415N	probably damaging	Het
Pdik1l	T	C	4: 134,006,207 (GRCm39)	N75S	probably damaging	Het
Pik3r4	A	G	9: 105,549,924 (GRCm39)	H1005R	probably damaging	Het
Plekhn1	T	C	4: 156,309,988 (GRCm39)	S109G	probably damaging	Het
Prkch	A	G	12: 73,749,612 (GRCm39)	T402A	possibly damaging	Het
Ptger4	C	A	15: 5,271,860 (GRCm39)	R253L	probably damaging	Het
Rabac1	A	T	7: 24,669,585 (GRCm39)	Y173*	probably null	Het
Rapsn	G	A	2: 90,873,557 (GRCm39)	V288M	possibly damaging	Het
Rnf26rt	C	T	6: 76,473,792 (GRCm39)	V275I	probably benign	Het
Sec31a	A	G	5: 100,513,817 (GRCm39)	S993P	probably damaging	Het
Septin4	A	G	11: 87,458,883 (GRCm39)	H419R	probably benign	Het
Serpina9	T	A	12: 103,967,553 (GRCm39)	M281L	probably benign	Het
Serpine1	G	A	5: 137,098,322 (GRCm39)	A117V	probably damaging	Het
Sh3tc2	A	G	18: 62,120,764 (GRCm39)		probably null	Het
Sipa1l2	T	C	8: 126,218,965 (GRCm39)	D124G	probably benign	Het
Slc6a12	T	A	6: 121,330,489 (GRCm39)		probably null	Het
Stk11	A	G	10: 79,952,435 (GRCm39)		probably benign	Het
Tcaf3	A	G	6: 42,566,930 (GRCm39)	Y720H	probably damaging	Het
Tmem38a	C	T	8: 73,326,005 (GRCm39)	P20S	possibly damaging	Het
Tmprss11a	C	T	5: 86,568,055 (GRCm39)	R224K	probably damaging	Het
Tmprss15	C	T	16: 78,754,244 (GRCm39)	S988N	probably benign	Het
Txn2	A	T	15: 77,799,643 (GRCm39)		probably null	Het
Ugt1a10	T	A	1: 87,983,919 (GRCm39)	V239E	probably damaging	Het
Vmn2r102	A	G	17: 19,901,475 (GRCm39)	Y534C	probably damaging	Het
Vmn2r78	A	T	7: 86,603,466 (GRCm39)	D548V	probably damaging	Het

Other mutations in Nkx3-2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0690:Nkx3-2	UTSW	5	41,919,470 (GRCm39)	missense	probably damaging	0.98
R3926:Nkx3-2	UTSW	5	41,919,223 (GRCm39)	missense	probably damaging	1.00
R4058:Nkx3-2	UTSW	5	41,919,406 (GRCm39)	missense	possibly damaging	0.60
R4489:Nkx3-2	UTSW	5	41,919,304 (GRCm39)	missense	probably damaging	1.00
R4732:Nkx3-2	UTSW	5	41,919,487 (GRCm39)	missense	probably benign	0.18
R4733:Nkx3-2	UTSW	5	41,919,487 (GRCm39)	missense	probably benign	0.18
R5067:Nkx3-2	UTSW	5	41,919,220 (GRCm39)	missense	probably damaging	1.00
R5265:Nkx3-2	UTSW	5	41,919,191 (GRCm39)	missense	probably benign	0.03
R7129:Nkx3-2	UTSW	5	41,919,017 (GRCm39)	missense	probably damaging	1.00
R8498:Nkx3-2	UTSW	5	41,920,989 (GRCm39)	missense	probably benign	0.30
R9208:Nkx3-2	UTSW	5	41,919,114 (GRCm39)	missense	probably damaging	0.99
R9435:Nkx3-2	UTSW	5	41,919,493 (GRCm39)	missense	probably benign	0.02

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