Mutagenetix > Incidental Mutation

Incidental Mutation 'R9083:Irx2'

690422

Institutional Source

Beutler Lab

Gene Symbol

Irx2

Ensembl Gene

ENSMUSG00000001504

Gene Name

Iroquois homeobox 2

Synonyms

IRX6

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.755) question?

Stock #

R9083 (G1)

Quality Score

90.0077

Status

Validated

Chromosome

Chromosomal Location

72628820-72634198 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72629273 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 71 (D71G)

Ref Sequence

ENSEMBL: ENSMUSP00000073976 (fasta)

Gene Model

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

AlphaFold

P81066

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074372
AA Change: D71G

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000073976
Gene: ENSMUSG00000001504
AA Change: D71G

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

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

probably benign
Transcript: ENSMUST00000172353

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,557,561	S844R	possibly damaging	Het
Adig	C	A	2: 158,505,789		probably benign	Het
Aspm	A	G	1: 139,493,698	N3106S	possibly damaging	Het
Bcas1	A	T	2: 170,348,161		probably benign	Het
Bco1	A	C	8: 117,117,404	I286L	probably benign	Het
Bnc1	C	T	7: 81,974,898	V194I	probably benign	Het
Bptf	G	A	11: 107,068,350	R1912W	probably damaging	Het
Cacna1a	A	G	8: 84,617,882	I1858V	probably benign	Het
Ccdc155	G	A	7: 45,204,634	R24C	unknown	Het
Chdh	T	C	14: 30,031,746	F204S	probably damaging	Het
Cic	A	G	7: 25,286,045	T1212A	probably damaging	Het
Cpne7	C	T	8: 123,130,212	P402L	probably damaging	Het
Cts8	A	G	13: 61,249,222	Y295H	probably damaging	Het
Cyp1a2	T	C	9: 57,680,289	T333A	probably benign	Het
Cyp2a12	T	C	7: 27,036,519	F451S	probably damaging	Het
Dmxl2	T	C	9: 54,409,264	I1613V	probably benign	Het
Eme1	A	G	11: 94,650,132	L260S	probably damaging	Het
Ermp1	A	C	19: 29,646,015	S192A	probably benign	Het
Fam186a	T	C	15: 99,945,198	Q1055R	probably benign	Het
Fat1	C	T	8: 45,013,090	T1462M	possibly damaging	Het
Fat1	A	G	8: 45,038,299	N3822S	probably benign	Het
Gm340	G	T	19: 41,586,400	R1198L	probably damaging	Het
Gm884	A	C	11: 103,619,004	S713A	unknown	Het
Gm973	A	G	1: 59,636,158	T225A		Het
Gnl2	A	G	4: 125,047,564	Y367C	probably damaging	Het
Golga5	T	A	12: 102,492,217	S640T	probably benign	Het
Inafm1	A	G	7: 16,273,271	V7A	unknown	Het
Kif13a	T	C	13: 46,812,787	Y448C	probably damaging	Het
Ldlrad4	A	T	18: 68,064,675	N10I	probably benign	Het
Lix1	T	C	17: 17,457,130	Y196H	possibly damaging	Het
Mon1a	A	G	9: 107,902,636	Y468C	probably damaging	Het
Mroh4	A	T	15: 74,626,291	I177N	probably damaging	Het
Mterf4	A	T	1: 93,301,793	Y236*	probably null	Het
Myo1f	T	A	17: 33,594,062	I614N	probably damaging	Het
Nbas	T	A	12: 13,335,855	S707T	possibly damaging	Het
Ncl	A	T	1: 86,351,461	S577T	possibly damaging	Het
Olfr120	T	A	17: 37,726,169	N48K	probably damaging	Het
Olfr146	A	G	9: 39,018,720	S274P	probably damaging	Het
Olfr607	T	C	7: 103,460,689	D173G		Het
Olfr769	A	T	10: 129,112,023	M134K	probably damaging	Het
Olfr822	A	T	10: 130,075,072	M221L	probably benign	Het
Olfr822	G	C	10: 130,075,100	S230T	probably benign	Het
Olfr829	A	T	9: 18,857,254	I201F	probably benign	Het
Padi1	C	A	4: 140,832,291		probably null	Het
Patj	G	A	4: 98,513,634	V1004M	probably benign	Het
Pcdhb9	A	T	18: 37,402,717	D588V	probably damaging	Het
Pdzph1	C	A	17: 58,954,400	R879L	possibly damaging	Het
Pla2g2c	G	A	4: 138,736,067	V91I	probably benign	Het
Plin4	T	C	17: 56,109,345	D53G	possibly damaging	Het
Poll	T	C	19: 45,557,878	Q241R	probably benign	Het
Recql5	A	T	11: 115,894,649	L674M	possibly damaging	Het
Shroom3	G	A	5: 92,950,674	G1338S	probably damaging	Het
Slc38a8	C	T	8: 119,486,041	V294I	probably benign	Het
Slc4a1ap	T	C	5: 31,527,113	V31A	probably benign	Het
Tln2	G	A	9: 67,362,645	P489S	probably damaging	Het
Trappc9	G	A	15: 72,736,777	R928*	probably null	Het
Uba7	C	A	9: 107,977,967	T343N	probably benign	Het
Vasn	C	T	16: 4,650,007	T606I	probably benign	Het
Xrn2	T	A	2: 147,038,279	D507E	probably damaging	Het
Zfp592	T	A	7: 81,024,896	M536K	possibly damaging	Het
Zfp932	A	T	5: 110,009,234	H266L	probably 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
R0647:Irx2	UTSW	13	72630680	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
Z1177:Irx2	UTSW	13	72629089	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCACTCCTGACTGCAGACTC -3'
(R):5'- AGGGAAATCAGCCTACGAGC -3'

Sequencing Primer
(F):5'- GCTACCTGTACCAAGCGC -3'
(R):5'- TACGAGCTCTGCAGGTCAGTC -3'

Posted On

2021-12-30