Mutagenetix > Incidental Mutation

Incidental Mutation 'R5219:Irx2'

402241

Institutional Source

Beutler Lab

Gene Symbol

Irx2

Ensembl Gene

ENSMUSG00000001504

Gene Name

Iroquois homeobox 2

Synonyms

IRX6

MMRRC Submission

042792-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.715) question?

Stock #

R5219 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72776939-72782317 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 72779420 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Proline at position 235 (A235P)

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: A235P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073976
Gene: ENSMUSG00000001504
AA Change: A235P

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 benign
Transcript: ENSMUST00000172353

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177421

Meta Mutation Damage Score

0.0665

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (68/70)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700063H04Rik	A	G	6: 122,369,299 (GRCm39)		noncoding transcript	Het
4933428M09Rik	G	T	X: 138,080,282 (GRCm39)	G16*	probably null	Het
A2m	A	G	6: 121,653,909 (GRCm39)	H1414R	possibly damaging	Het
A530064D06Rik	G	T	17: 48,470,518 (GRCm39)	D154E	possibly damaging	Het
Adam34	C	T	8: 44,104,461 (GRCm39)	D395N	probably benign	Het
Agl	A	G	3: 116,572,370 (GRCm39)	V195A	possibly damaging	Het
Aip	T	C	19: 4,165,180 (GRCm39)	I230V	probably benign	Het
Akap10	A	C	11: 61,813,617 (GRCm39)	S43A	probably benign	Het
Ap3d1	T	C	10: 80,545,651 (GRCm39)	E1026G	probably benign	Het
Arid5b	T	A	10: 68,113,940 (GRCm39)	K32N	probably benign	Het
Atp6v0a2	C	A	5: 124,790,249 (GRCm39)	N477K	probably damaging	Het
Atr	A	C	9: 95,763,291 (GRCm39)	I1062L	probably damaging	Het
Ces2h	T	C	8: 105,743,278 (GRCm39)	V171A	probably damaging	Het
Cnot2	A	G	10: 116,342,215 (GRCm39)		probably null	Het
Cpne3	A	T	4: 19,526,366 (GRCm39)	L391H	probably damaging	Het
Ctdp1	A	G	18: 80,490,675 (GRCm39)	L715P	probably damaging	Het
Dcxr	T	C	11: 120,616,314 (GRCm39)		probably benign	Het
Dhtkd1	C	T	2: 5,919,627 (GRCm39)	A585T	probably benign	Het
Elapor2	G	T	5: 9,511,486 (GRCm39)	W949C	probably damaging	Het
Fcgbp	G	A	7: 27,803,510 (GRCm39)	A1705T	probably damaging	Het
Galr1	A	T	18: 82,412,110 (GRCm39)	V252D	probably damaging	Het
Gm11677	A	G	11: 111,616,225 (GRCm39)		noncoding transcript	Het
Gp6	A	G	7: 4,371,998 (GRCm39)	V252A	possibly damaging	Het
Inpp4b	T	C	8: 82,610,785 (GRCm39)	V176A	probably benign	Het
Klk1b11	G	A	7: 43,649,120 (GRCm39)	C219Y	probably damaging	Het
Lamc1	C	A	1: 153,103,442 (GRCm39)	V1375L	probably damaging	Het
Lars1	A	T	18: 42,367,785 (GRCm39)	V431E	probably benign	Het
Lmntd2	T	C	7: 140,791,387 (GRCm39)		probably null	Het
Ltbp4	A	T	7: 27,026,746 (GRCm39)	W500R	probably benign	Het
Ltbp4	AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC	AATTCAGGCCTAGGCTGGGATTCAGGC	7: 27,026,736 (GRCm39)		probably benign	Het
Mdn1	C	T	4: 32,723,690 (GRCm39)	P2542L	probably damaging	Het
Nadk	A	G	4: 155,668,711 (GRCm39)	I127M	probably benign	Het
Nxph1	T	A	6: 9,247,765 (GRCm39)	Y245*	probably null	Het
Or4a73	C	T	2: 89,421,046 (GRCm39)	V138I	probably benign	Het
Or7s1a-ps1	T	C	9: 18,843,990 (GRCm39)		probably benign	Het
Or8g34	G	T	9: 39,373,563 (GRCm39)	V276L	probably benign	Het
Or9k7	T	A	10: 130,046,793 (GRCm39)	T69S	possibly damaging	Het
Orc1	T	C	4: 108,447,966 (GRCm39)	F71S	probably damaging	Het
Pccb	A	T	9: 100,867,262 (GRCm39)	Y404*	probably null	Het
Pde2a	A	C	7: 101,153,811 (GRCm39)	I460L	probably damaging	Het
Ppp3cb	G	T	14: 20,578,263 (GRCm39)	C162*	probably null	Het
Prickle2	T	C	6: 92,353,511 (GRCm39)	S652G	probably benign	Het
Prss38	A	G	11: 59,266,309 (GRCm39)		probably benign	Het
Rcor3	T	A	1: 191,821,813 (GRCm39)		probably benign	Het
Rgp1	C	T	4: 43,579,440 (GRCm39)	A16V	probably damaging	Het
Rptor	G	A	11: 119,734,539 (GRCm39)	G514D	probably damaging	Het
Scnn1g	T	A	7: 121,365,489 (GRCm39)	Y514N	probably damaging	Het
Sephs1	A	G	2: 4,896,501 (GRCm39)	D134G	probably benign	Het
Slc38a3	A	G	9: 107,529,111 (GRCm39)		probably benign	Het
Slc6a1	A	T	6: 114,287,182 (GRCm39)	M388L	probably benign	Het
Ssbp3	A	T	4: 106,904,655 (GRCm39)	N350I	probably damaging	Het
Stam2	G	A	2: 52,626,305 (GRCm39)		probably benign	Het
Sult1e1	A	T	5: 87,726,445 (GRCm39)	I223N	probably damaging	Het
Tcf20	C	A	15: 82,740,582 (GRCm39)	G290C	probably damaging	Het
Tekt2	G	T	4: 126,216,057 (GRCm39)	T412K	possibly damaging	Het
Trabd2b	A	G	4: 114,460,007 (GRCm39)	T382A	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubr4	C	A	4: 139,204,543 (GRCm39)	Y4818*	probably null	Het
Vmn1r204	A	T	13: 22,741,069 (GRCm39)	R233S	probably damaging	Het
Vmn1r86	A	G	7: 12,836,382 (GRCm39)	Y165H	probably damaging	Het
Yaf2	A	C	15: 93,183,355 (GRCm39)	C152G	probably benign	Het
Zfp804b	A	T	5: 6,820,703 (GRCm39)	F751I	probably benign	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
R0783:Irx2	UTSW	13	72,780,769 (GRCm39)	critical splice donor site	probably null
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
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'- GATGCTGGGCCGCATTTAATG -3'
(R):5'- GCTGCGTTTAAGTTCCCGTAG -3'

Sequencing Primer
(F):5'- CATTTAATGCTGCCTCGGGG -3'
(R):5'- CTTGAGGTCCGACGTGGCTATC -3'

Posted On

2016-07-22