Mutagenetix > Incidental Mutation

Incidental Mutation 'R0783:Irx2'

76731

Institutional Source

Beutler Lab

Gene Symbol

Irx2

Ensembl Gene

ENSMUSG00000001504

Gene Name

Iroquois homeobox 2

Synonyms

IRX6

MMRRC Submission

038963-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.710) question?

Stock #

R0783 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72776939-72782317 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 72780769 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126691 (fasta)

Gene Model

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

AlphaFold

P81066

Predicted Effect

probably benign
Transcript: ENSMUST00000074372

SMART Domains

Protein: ENSMUSP00000073976
Gene: ENSMUSG00000001504

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

SMART Domains

Protein: ENSMUSP00000127963
Gene: ENSMUSG00000001504

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169028

Predicted Effect

probably null
Transcript: ENSMUST00000172353

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177421

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.8%
20x: 92.2%

Validation Efficiency

100% (47/47)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	A	7: 119,893,380 (GRCm39)	G1277R	probably damaging	Het
Abi3bp	A	G	16: 56,415,601 (GRCm39)		probably null	Het
Acsm2	G	A	7: 119,172,340 (GRCm39)	G61D	probably damaging	Het
Akp3	G	A	1: 87,055,593 (GRCm39)	G547R	unknown	Het
Bbs9	T	C	9: 22,479,010 (GRCm39)	L151S	possibly damaging	Het
Camk2g	T	A	14: 20,794,704 (GRCm39)	T173S	possibly damaging	Het
Eif3b	T	C	5: 140,405,592 (GRCm39)		probably benign	Het
Eif3i	A	C	4: 129,485,869 (GRCm39)	F319V	possibly damaging	Het
Eprs1	T	C	1: 185,130,655 (GRCm39)	L672P	probably damaging	Het
Fam110d	G	A	4: 133,979,368 (GRCm39)	R37C	probably damaging	Het
Fras1	C	T	5: 96,916,289 (GRCm39)	A3441V	probably damaging	Het
Gigyf2	T	A	1: 87,334,883 (GRCm39)	M79K	probably damaging	Het
Hdac1	T	C	4: 129,411,902 (GRCm39)	N331S	probably benign	Het
Hmcn1	C	T	1: 150,525,824 (GRCm39)	G3300S	probably damaging	Het
Iars2	T	C	1: 185,053,071 (GRCm39)	E400G	probably damaging	Het
Itih4	G	A	14: 30,617,380 (GRCm39)	E567K	possibly damaging	Het
Klhl5	T	A	5: 65,313,596 (GRCm39)		probably benign	Het
Klk1b8	G	A	7: 43,451,621 (GRCm39)	G204E	probably damaging	Het
Loxhd1	T	C	18: 77,517,680 (GRCm39)	F1843L	possibly damaging	Het
Mllt6	T	C	11: 97,556,571 (GRCm39)	V87A	probably damaging	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Nhlrc3	A	T	3: 53,369,870 (GRCm39)	S34T	probably benign	Het
Or10q1	T	C	19: 13,727,040 (GRCm39)	L190P	probably damaging	Het
Or4c119	A	T	2: 88,987,235 (GRCm39)	C95S	probably benign	Het
Or52b3	A	G	7: 102,203,646 (GRCm39)	I52V	probably benign	Het
Or52s1	T	C	7: 102,861,877 (GRCm39)	F259S	probably damaging	Het
Or5h25	A	T	16: 58,930,532 (GRCm39)	L147*	probably null	Het
Or8h9	A	G	2: 86,788,906 (GRCm39)	C299R	probably benign	Het
Pcnx4	T	C	12: 72,622,252 (GRCm39)	W1074R	probably damaging	Het
Pcsk9	T	C	4: 106,307,314 (GRCm39)	T310A	probably benign	Het
Pfas	A	G	11: 68,891,347 (GRCm39)	L250P	probably damaging	Het
Plk5	T	A	10: 80,196,964 (GRCm39)	D352E	probably benign	Het
Ryr3	A	G	2: 112,586,672 (GRCm39)		probably benign	Het
Serinc3	A	G	2: 163,478,923 (GRCm39)	I68T	possibly damaging	Het
Sez6l2	A	G	7: 126,566,317 (GRCm39)	T810A	possibly damaging	Het
Tmprss7	G	A	16: 45,487,969 (GRCm39)	Q487*	probably null	Het
Tnf	A	G	17: 35,420,650 (GRCm39)	I56T	probably damaging	Het
Ttbk2	A	T	2: 120,570,458 (GRCm39)	S1163T	possibly damaging	Het
Ttn	G	A	2: 76,573,874 (GRCm39)	T23927I	probably damaging	Het
Urb1	G	A	16: 90,607,185 (GRCm39)	A15V	possibly damaging	Het
Zfp128	C	T	7: 12,624,199 (GRCm39)	P189L	probably damaging	Het
Zfr	T	C	15: 12,162,268 (GRCm39)	V806A	probably damaging	Het

Other mutations in Irx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02749:Irx2	APN	13	72,779,429 (GRCm39)	missense	probably damaging	1.00
R0647:Irx2	UTSW	13	72,778,799 (GRCm39)	missense	probably damaging	1.00
R0931:Irx2	UTSW	13	72,779,675 (GRCm39)	missense	possibly damaging	0.71
R0932:Irx2	UTSW	13	72,779,675 (GRCm39)	missense	possibly damaging	0.71
R1782:Irx2	UTSW	13	72,779,585 (GRCm39)	missense	probably benign	0.19
R2844:Irx2	UTSW	13	72,779,709 (GRCm39)	missense	probably damaging	1.00
R4656:Irx2	UTSW	13	72,779,417 (GRCm39)	missense	probably damaging	1.00
R4963:Irx2	UTSW	13	72,780,729 (GRCm39)	missense	possibly damaging	0.71
R5219:Irx2	UTSW	13	72,779,420 (GRCm39)	missense	probably damaging	1.00
R5523:Irx2	UTSW	13	72,779,714 (GRCm39)	missense	probably damaging	1.00
R6663:Irx2	UTSW	13	72,777,248 (GRCm39)	missense	probably damaging	1.00
R7311:Irx2	UTSW	13	72,779,396 (GRCm39)	missense	probably damaging	0.98
R7411:Irx2	UTSW	13	72,777,182 (GRCm39)	start codon destroyed	probably null	0.99
R7487:Irx2	UTSW	13	72,778,739 (GRCm39)	missense	probably damaging	1.00
R7506:Irx2	UTSW	13	72,777,328 (GRCm39)	missense	probably damaging	1.00
R7792:Irx2	UTSW	13	72,779,493 (GRCm39)	missense	possibly damaging	0.88
R7953:Irx2	UTSW	13	72,777,343 (GRCm39)	missense	probably benign	0.02
R9083:Irx2	UTSW	13	72,777,392 (GRCm39)	missense	possibly damaging	0.94
Z1177:Irx2	UTSW	13	72,777,208 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCTAACTCTGCATCCCCGAGACTG -3'
(R):5'- GGATACTGAACACCAAGTAGCAGGC -3'

Sequencing Primer
(F):5'- AATAACGTGGATCTTAGATGCCCC -3'
(R):5'- tgtgtgtgtgtgtgtTCTGTTTAG -3'

Posted On

2013-10-16