Mutagenetix > Incidental Mutation

Incidental Mutation 'R0647:Irx2'

57288

Institutional Source

Beutler Lab

Gene Symbol

Irx2

Ensembl Gene

ENSMUSG00000001504

Gene Name

Iroquois homeobox 2

Synonyms

IRX6

MMRRC Submission

038832-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.745) question?

Stock #

R0647 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72628820-72634198 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 72630680 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 121 (N121T)

Ref Sequence

ENSEMBL: ENSMUSP00000073976 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074372] [ENSMUST00000167067] [ENSMUST00000172353]

AlphaFold

P81066

Predicted Effect

probably damaging
Transcript: ENSMUST00000074372
AA Change: N121T

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

SMART Domains

Protein: ENSMUSP00000073976
Gene: ENSMUSG00000001504
AA Change: N121T

Domain	Start	End	E-Value	Type
low complexity region	51	64	N/A	INTRINSIC
low complexity region	70	78	N/A	INTRINSIC
HOX	115	180	1.14e-12	SMART
low complexity region	188	196	N/A	INTRINSIC
low complexity region	256	278	N/A	INTRINSIC
low complexity region	293	305	N/A	INTRINSIC
IRO	325	342	2.28e-5	SMART
low complexity region	346	382	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163393

Predicted Effect

probably benign
Transcript: ENSMUST00000167067
AA Change: N27T

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000127963
Gene: ENSMUSG00000001504
AA Change: N27T

Domain	Start	End	E-Value	Type
HOX	21	86	1.14e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169028

Predicted Effect

probably benign
Transcript: ENSMUST00000172353

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177421

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] IRX2 is a member of the Iroquois homeobox gene family. Members of this family appear to play multiple roles during pattern formation of vertebrate embryos.[supplied by OMIM, Apr 2004]
PHENOTYPE: Mice homozygous for disruptions in this gene are phenotypically normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930452B06Rik	T	A	14: 8,536,655	D184V	possibly damaging	Het
Adamts2	C	A	11: 50,603,438	T113K	probably damaging	Het
Adgre1	T	A	17: 57,411,003	N338K	probably damaging	Het
Aggf1	A	T	13: 95,371,656		probably null	Het
Apc2	A	T	10: 80,304,928	I206F	probably damaging	Het
Carmil3	T	C	14: 55,502,435		probably null	Het
Ccdc110	A	C	8: 45,943,388	E772A	probably damaging	Het
Cdh23	A	G	10: 60,307,902	F2977L	probably damaging	Het
Cdh23	A	T	10: 60,323,374	Y2207*	probably null	Het
Chd4	T	A	6: 125,109,123	N908K	probably damaging	Het
Chst9	A	G	18: 15,452,669	I279T	probably damaging	Het
Ctnna3	A	T	10: 63,820,424	N261I	probably benign	Het
Dlgap2	A	T	8: 14,727,591	S279C	possibly damaging	Het
Dock4	G	A	12: 40,710,884	E524K	probably damaging	Het
Fabp12	T	A	3: 10,246,036	N122I	possibly damaging	Het
Fam184b	T	C	5: 45,584,590	T100A	probably benign	Het
Fbxl5	T	C	5: 43,768,069	D176G	probably damaging	Het
Fcho1	C	T	8: 71,712,560	A418T	probably benign	Het
Foxe1	A	G	4: 46,344,477	N95S	possibly damaging	Het
Frem3	A	G	8: 80,615,185	E1369G	probably damaging	Het
Frmpd4	C	T	X: 167,489,010	E483K	probably damaging	Het
Gbp11	T	C	5: 105,330,964	K203E	possibly damaging	Het
Gm10334	A	T	6: 41,443,341	F150L	probably benign	Het
Hs3st6	C	T	17: 24,758,160	R205C	probably damaging	Het
Ifitm10	C	T	7: 142,356,035	S179N	probably damaging	Het
Itih1	A	T	14: 30,935,863	V417E	probably damaging	Het
Itpr1	A	C	6: 108,383,698	E695A	probably damaging	Het
Kif1c	T	A	11: 70,726,141	I755K	probably damaging	Het
Lamb3	A	G	1: 193,330,796	E443G	probably damaging	Het
Lrp1	G	C	10: 127,571,477	T1865R	probably damaging	Het
Lrrc8b	T	A	5: 105,480,607	I273K	possibly damaging	Het
Ly9	T	C	1: 171,599,808	Y393C	probably damaging	Het
Mphosph8	T	C	14: 56,674,405	V295A	probably benign	Het
Nlrp5	T	A	7: 23,417,707	D269E	probably damaging	Het
Olfr1294	A	G	2: 111,537,359	V310A	probably benign	Het
Olfr398	G	A	11: 73,983,771	A279V	probably damaging	Het
Olfr469	T	A	7: 107,823,011	I153F	probably benign	Het
Olfr654	T	G	7: 104,588,115	F104V	probably damaging	Het
Olfr720	T	G	14: 14,175,858	T75P	probably benign	Het
Otud3	A	G	4: 138,913,637	L64P	probably damaging	Het
Pcdh17	A	T	14: 84,447,773	H560L	possibly damaging	Het
Pcdhb21	T	C	18: 37,513,860	V14A	probably damaging	Het
Rbfox1	A	T	16: 7,224,384	Q14L	probably damaging	Het
Rbm44	A	G	1: 91,156,928	D665G	probably benign	Het
Rc3h2	C	T	2: 37,409,530	V163M	probably damaging	Het
Sash1	T	A	10: 8,729,552	R1025W	probably damaging	Het
Sgpl1	A	G	10: 61,113,488	S146P	probably damaging	Het
Slc27a2	G	A	2: 126,587,916	D615N	probably benign	Het
Smap1	A	G	1: 23,853,478	I135T	probably damaging	Het
Snapc3	A	G	4: 83,450,229	D321G	probably damaging	Het
St6galnac4	C	T	2: 32,589,448	R6C	probably damaging	Het
Syne2	C	T	12: 75,888,203	P153L	probably benign	Het
Tiprl	A	G	1: 165,222,523		probably null	Het
Tmem94	A	G	11: 115,796,795	N1160S	probably damaging	Het
Trim65	G	A	11: 116,128,210	R168C	possibly damaging	Het
Txndc16	A	T	14: 45,169,275	I241N	probably damaging	Het
Txndc16	T	A	14: 45,165,361	R101*	probably null	Het
Ugt2b38	A	G	5: 87,423,469	S235P	probably benign	Het
Ugt3a1	A	T	15: 9,310,549	M306L	probably benign	Het
Vmn1r23	T	A	6: 57,926,184	Y203F	probably benign	Het
Vmn2r3	T	A	3: 64,275,625	I218F	probably damaging	Het
Wdfy4	A	G	14: 33,109,699	C857R	possibly damaging	Het
Zfp493	A	C	13: 67,783,875	K31T	possibly damaging	Het

Other mutations in Irx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02749:Irx2	APN	13	72631310	missense	probably damaging	1.00
R0783:Irx2	UTSW	13	72632650	critical splice donor site	probably null
R0931:Irx2	UTSW	13	72631556	missense	possibly damaging	0.71
R0932:Irx2	UTSW	13	72631556	missense	possibly damaging	0.71
R1782:Irx2	UTSW	13	72631466	missense	probably benign	0.19
R2844:Irx2	UTSW	13	72631590	missense	probably damaging	1.00
R4656:Irx2	UTSW	13	72631298	missense	probably damaging	1.00
R4963:Irx2	UTSW	13	72632610	missense	possibly damaging	0.71
R5219:Irx2	UTSW	13	72631301	missense	probably damaging	1.00
R5523:Irx2	UTSW	13	72631595	missense	probably damaging	1.00
R6663:Irx2	UTSW	13	72629129	missense	probably damaging	1.00
R7311:Irx2	UTSW	13	72631277	missense	probably damaging	0.98
R7411:Irx2	UTSW	13	72629063	start codon destroyed	probably null	0.99
R7487:Irx2	UTSW	13	72630620	missense	probably damaging	1.00
R7506:Irx2	UTSW	13	72629209	missense	probably damaging	1.00
R7792:Irx2	UTSW	13	72631374	missense	possibly damaging	0.88
R7953:Irx2	UTSW	13	72629224	missense	probably benign	0.02
R9083:Irx2	UTSW	13	72629273	missense	possibly damaging	0.94
Z1177:Irx2	UTSW	13	72629089	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GATTTCCAACCCAGAGAAGCCTAGC -3'
(R):5'- AAATGCGGCCCAGCATCTCTAC -3'

Sequencing Primer
(F):5'- CCTAGCAGGAAAGGCAGC -3'
(R):5'- GAAAGCTCCCTGAGCCTTC -3'

Posted On

2013-07-11