Mutagenetix > Incidental Mutation

Incidental Mutation 'R7457:Isl2'

578208

Institutional Source

Beutler Lab

Gene Symbol

Isl2

Ensembl Gene

ENSMUSG00000032318

Gene Name

insulin related protein 2 (islet 2)

Synonyms

islet-2, 3110001N10Rik, islet 2

MMRRC Submission

045531-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7457 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55445956-55453464 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55452240 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 271 (T271A)

Ref Sequence

ENSEMBL: ENSMUSP00000034869 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034869] [ENSMUST00000037408] [ENSMUST00000114290] [ENSMUST00000164373] [ENSMUST00000175950] [ENSMUST00000214747]

AlphaFold

Q9CXV0

PDB Structure

The structural basis for partial redundancy in a class of transcription factors, the lim-homeodomain proteins, in neural cell type specification [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000034869
AA Change: T271A

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000034869
Gene: ENSMUSG00000032318
AA Change: T271A

Domain	Start	End	E-Value	Type
LIM	26	80	4.09e-11	SMART
LIM	88	142	2.67e-15	SMART
HOX	191	253	3.41e-20	SMART
low complexity region	323	336	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000037408

SMART Domains

Protein: ENSMUSP00000043411
Gene: ENSMUSG00000034007

Domain	Start	End	E-Value	Type
Pfam:SCAPER_N	88	185	3.4e-47	PFAM
low complexity region	323	338	N/A	INTRINSIC
coiled coil region	415	466	N/A	INTRINSIC
coiled coil region	535	597	N/A	INTRINSIC
SCOP:d1eq1a_	605	769	3e-6	SMART
ZnF_C2H2	791	815	1.16e1	SMART
low complexity region	866	883	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114290

SMART Domains

Protein: ENSMUSP00000109929
Gene: ENSMUSG00000032318

Domain	Start	End	E-Value	Type
LIM	26	80	4.09e-11	SMART
low complexity region	123	141	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164373

SMART Domains

Protein: ENSMUSP00000130638
Gene: ENSMUSG00000032318

Domain	Start	End	E-Value	Type
LIM	26	80	4.09e-11	SMART
low complexity region	123	141	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000175950

SMART Domains

Protein: ENSMUSP00000139485
Gene: ENSMUSG00000032318

Domain	Start	End	E-Value	Type
LIM	37	91	4.09e-11	SMART
LIM	99	152	1.53e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000214747

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (61/61)

MGI Phenotype

PHENOTYPE: Mutations of this gene result in neonatal lethality, motor neuron migration defects and impaired visceral motor neuron differentiation. [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
Adam32	A	T	8: 25,374,635 (GRCm39)	H452Q	probably damaging	Het
Adcy8	A	T	15: 64,792,529 (GRCm39)	N142K	possibly damaging	Het
Alkbh8	T	A	9: 3,343,056 (GRCm39)	S57R	probably damaging	Het
Atp4a	A	G	7: 30,420,192 (GRCm39)	T780A	probably benign	Het
Atp9b	A	T	18: 80,960,833 (GRCm39)		probably null	Het
Cdyl2	A	T	8: 117,305,935 (GRCm39)	V442E	probably damaging	Het
Ces2a	C	T	8: 105,464,021 (GRCm39)	R218C	possibly damaging	Het
Cfap57	A	T	4: 118,446,198 (GRCm39)	V688E	probably damaging	Het
Clec11a	T	C	7: 43,955,379 (GRCm39)	T139A	probably benign	Het
Clstn1	A	T	4: 149,719,373 (GRCm39)	T411S	probably benign	Het
Commd5	A	T	15: 76,784,824 (GRCm39)	S74C	probably damaging	Het
Cyp3a59	C	A	5: 146,041,560 (GRCm39)	P368Q	probably damaging	Het
Dennd4b	A	G	3: 90,176,622 (GRCm39)	M309V	probably benign	Het
Dhrs9	T	A	2: 69,231,611 (GRCm39)	V257E	probably benign	Het
Dhx16	T	C	17: 36,201,952 (GRCm39)	V993A	probably damaging	Het
Dok5	A	T	2: 170,712,735 (GRCm39)	Q247L	probably benign	Het
E330034G19Rik	A	T	14: 24,359,582 (GRCm39)	E331V	unknown	Het
Efs	A	G	14: 55,157,451 (GRCm39)	S287P	probably benign	Het
Fbn1	T	C	2: 125,193,667 (GRCm39)	N1384S	possibly damaging	Het
Flt4	A	G	11: 49,521,155 (GRCm39)	E388G	possibly damaging	Het
Fmn2	T	A	1: 174,331,303 (GRCm39)		probably null	Het
Fmo4	T	C	1: 162,621,672 (GRCm39)	Y513C	probably benign	Het
Gbp4	T	C	5: 105,267,419 (GRCm39)	E500G	probably damaging	Het
Gm29106	T	C	1: 118,126,982 (GRCm39)	S225P	probably damaging	Het
Gstt2	G	A	10: 75,668,354 (GRCm39)	R134W	probably damaging	Het
Gucy1b2	T	C	14: 62,630,401 (GRCm39)	T782A	probably benign	Het
Gzf1	G	T	2: 148,532,002 (GRCm39)	R543L	probably damaging	Het
H2-Eb2	G	A	17: 34,553,321 (GRCm39)	G169E	probably damaging	Het
Hdhd3	T	A	4: 62,418,027 (GRCm39)	R50W	probably damaging	Het
Hdlbp	T	C	1: 93,355,944 (GRCm39)	K407E	probably benign	Het
Kbtbd7	GTCTCTC	GTC	14: 79,665,364 (GRCm39)		probably null	Het
Kdm4b	T	A	17: 56,703,319 (GRCm39)	N671K	probably damaging	Het
Lats1	T	A	10: 7,586,655 (GRCm39)	L939H	probably damaging	Het
Map3k1	A	T	13: 111,892,789 (GRCm39)	M822K	probably damaging	Het
Mettl18	C	A	1: 163,824,330 (GRCm39)	T217N	probably damaging	Het
Nav3	A	T	10: 109,532,189 (GRCm39)	Y2083*	probably null	Het
Nckap1l	T	C	15: 103,362,233 (GRCm39)		probably benign	Het
Nkx2-3	A	G	19: 43,600,986 (GRCm39)	D16G	probably damaging	Het
Nlrx1	A	G	9: 44,167,807 (GRCm39)	S697P	probably benign	Het
Or14j4	T	C	17: 37,921,456 (GRCm39)	K62R	possibly damaging	Het
Or1e29	G	C	11: 73,667,652 (GRCm39)	S167C	probably benign	Het
Or4k6	A	T	14: 50,475,825 (GRCm39)	N172K	probably damaging	Het
Or6c75	T	C	10: 129,337,575 (GRCm39)	V266A	probably damaging	Het
Pappa	A	T	4: 65,107,503 (GRCm39)	D638V	probably damaging	Het
Pot1a	T	C	6: 25,771,621 (GRCm39)	D200G	probably benign	Het
Ptprs	G	T	17: 56,726,502 (GRCm39)	T1366K	probably damaging	Het
Sass6	A	T	3: 116,413,813 (GRCm39)	R505S	probably benign	Het
Slc30a6	T	C	17: 74,714,233 (GRCm39)	I84T	probably benign	Het
Sox10	A	T	15: 79,040,339 (GRCm39)	F400L	probably benign	Het
Spata31d1b	A	T	13: 59,864,723 (GRCm39)	I624F	probably damaging	Het
Stpg4	A	G	17: 87,735,006 (GRCm39)		probably null	Het
Tbc1d9	G	T	8: 83,963,309 (GRCm39)	K340N	probably damaging	Het
Tspan12	T	A	6: 21,772,682 (GRCm39)	H289L	probably benign	Het
Ubr1	T	A	2: 120,748,309 (GRCm39)	T809S	probably benign	Het
Vmn1r43	C	T	6: 89,847,172 (GRCm39)	V105M	probably damaging	Het
Vmn1r49	A	G	6: 90,049,534 (GRCm39)	V156A	probably benign	Het
Wnt5a	A	G	14: 28,240,236 (GRCm39)		probably null	Het
Wwp2	T	A	8: 108,244,592 (GRCm39)	S255T	probably benign	Het
Zbtb10	A	G	3: 9,316,538 (GRCm39)	T117A	possibly damaging	Het
Zfp800	C	T	6: 28,244,228 (GRCm39)	V246I	probably benign	Het
Zfp955a	G	T	17: 33,463,025 (GRCm39)	Y35*	probably null	Het

Other mutations in Isl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Isl2	APN	9	55,452,253 (GRCm39)	missense	possibly damaging	0.90
IGL01123:Isl2	APN	9	55,452,746 (GRCm39)	missense	probably damaging	1.00
IGL01773:Isl2	APN	9	55,451,504 (GRCm39)	missense	probably damaging	1.00
IGL02801:Isl2	APN	9	55,452,816 (GRCm39)	splice site	probably null
R0578:Isl2	UTSW	9	55,452,319 (GRCm39)	missense	probably damaging	0.99
R3737:Isl2	UTSW	9	55,449,754 (GRCm39)	missense	probably benign	0.17
R4035:Isl2	UTSW	9	55,449,754 (GRCm39)	missense	probably benign	0.17
R4750:Isl2	UTSW	9	55,451,596 (GRCm39)	missense	probably benign	0.21
R4851:Isl2	UTSW	9	55,452,271 (GRCm39)	missense	possibly damaging	0.64
R5107:Isl2	UTSW	9	55,449,570 (GRCm39)	missense	probably benign	0.17
R5181:Isl2	UTSW	9	55,449,561 (GRCm39)	missense	probably benign	0.33
R6724:Isl2	UTSW	9	55,448,572 (GRCm39)	missense	possibly damaging	0.92
R7235:Isl2	UTSW	9	55,451,455 (GRCm39)	missense	probably benign
R7418:Isl2	UTSW	9	55,451,636 (GRCm39)	missense	probably benign	0.00
R7632:Isl2	UTSW	9	55,448,440 (GRCm39)	splice site	probably null
R7705:Isl2	UTSW	9	55,449,685 (GRCm39)	missense	probably benign	0.03
R7898:Isl2	UTSW	9	55,449,723 (GRCm39)	missense	probably benign	0.18
R8266:Isl2	UTSW	9	55,451,408 (GRCm39)	missense	probably benign	0.00
R8409:Isl2	UTSW	9	55,449,784 (GRCm39)	missense	possibly damaging	0.61
R8738:Isl2	UTSW	9	55,452,722 (GRCm39)	missense	probably benign	0.00
R9168:Isl2	UTSW	9	55,452,227 (GRCm39)	missense	probably benign	0.02
X0067:Isl2	UTSW	9	55,449,555 (GRCm39)	missense	probably damaging	1.00
Z1176:Isl2	UTSW	9	55,449,499 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTTATCTCCGTTGCGAAATGGG -3'
(R):5'- ATGTGAACGAACGAAGTCCC -3'

Sequencing Primer
(F):5'- CCGTTGCGAAATGGGGGATTC -3'
(R):5'- GTCCACCGTGCAGTTTGC -3'

Posted On

2019-10-07