Mutagenetix > Incidental Mutation

Incidental Mutation 'R7235:Isl2'

574563

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

045305-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7235 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55445956-55453464 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 55451455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 115 (T115I)

Ref Sequence

ENSEMBL: ENSMUSP00000130638 (fasta)

Gene Model

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

AlphaFold

Q9CXV0

Predicted Effect

silent
Transcript: ENSMUST00000034869

SMART Domains

Protein: ENSMUSP00000034869
Gene: ENSMUSG00000032318

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: ENSMUST00000114290
AA Change: T115I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109929
Gene: ENSMUSG00000032318
AA Change: T115I

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
AA Change: T115I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000130638
Gene: ENSMUSG00000032318
AA Change: T115I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (61/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	A	19: 8,989,852 (GRCm39)	M3712K	unknown	Het
Bri3bp	A	G	5: 125,518,748 (GRCm39)	E8G	unknown	Het
Brip1	C	T	11: 86,029,701 (GRCm39)	R611Q	possibly damaging	Het
Carm1	T	G	9: 21,498,701 (GRCm39)		probably benign	Het
Catsper4	A	T	4: 133,939,892 (GRCm39)		probably null	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cip2a	T	A	16: 48,821,422 (GRCm39)	L176H	probably damaging	Het
Clk4	A	G	11: 51,167,012 (GRCm39)	D330G	probably damaging	Het
Dcdc2c	A	G	12: 28,520,718 (GRCm39)	S453P		Het
Ddx46	G	A	13: 55,811,053 (GRCm39)	V550I	probably benign	Het
Dennd1a	T	C	2: 37,691,073 (GRCm39)	N676D	probably benign	Het
Dnah3	T	C	7: 119,631,893 (GRCm39)	N1365S	probably damaging	Het
Dsg1b	T	C	18: 20,532,480 (GRCm39)	V508A	probably benign	Het
Dus2	T	C	8: 106,742,587 (GRCm39)	V39A	possibly damaging	Het
Dync1li1	T	C	9: 114,544,231 (GRCm39)	V301A	possibly damaging	Het
Efcc1	T	G	6: 87,730,780 (GRCm39)	S513A	probably benign	Het
Eif3f	T	C	7: 108,537,295 (GRCm39)	V167A	possibly damaging	Het
Ephb2	A	G	4: 136,421,139 (GRCm39)	Y404H	probably damaging	Het
Eqtn	A	T	4: 94,811,936 (GRCm39)	D152E	probably damaging	Het
Ercc5	A	C	1: 44,217,363 (GRCm39)	K902T	possibly damaging	Het
Erlec1	T	A	11: 30,900,751 (GRCm39)	E139V	possibly damaging	Het
Evl	G	A	12: 108,614,719 (GRCm39)	G38R	probably damaging	Het
Fads2b	T	G	2: 85,330,563 (GRCm39)	H248P	probably damaging	Het
Foxd2	T	C	4: 114,765,468 (GRCm39)	N184S	unknown	Het
Frem3	T	C	8: 81,417,354 (GRCm39)	Y2020H	probably benign	Het
Ganc	T	C	2: 120,264,198 (GRCm39)	F384L	probably damaging	Het
Grin2a	A	G	16: 9,397,129 (GRCm39)	L986P	probably damaging	Het
Ift140	A	T	17: 25,239,619 (GRCm39)	D92V	possibly damaging	Het
Inpp5b	A	G	4: 124,645,185 (GRCm39)	K158E	probably benign	Het
Iscu	T	A	5: 113,914,943 (GRCm39)	S152T	probably benign	Het
Kalrn	T	A	16: 33,996,131 (GRCm39)	T1542S	probably benign	Het
Kat6a	A	G	8: 23,404,285 (GRCm39)	D454G	possibly damaging	Het
Kcnj10	T	C	1: 172,196,993 (GRCm39)	I169T	probably damaging	Het
Klk12	T	C	7: 43,422,723 (GRCm39)	S217P	probably damaging	Het
Lancl1	T	C	1: 67,077,694 (GRCm39)	N14S	probably benign	Het
Map2	A	G	1: 66,453,807 (GRCm39)	Y899C	probably damaging	Het
Msantd5f9	G	T	4: 73,835,808 (GRCm39)	L219M	probably benign	Het
Nr1h5	C	T	3: 102,856,358 (GRCm39)		probably null	Het
Nup98	T	C	7: 101,774,491 (GRCm39)	T1515A	probably damaging	Het
Obscn	A	C	11: 58,971,666 (GRCm39)	V2183G	probably damaging	Het
Or52n2	C	T	7: 104,541,926 (GRCm39)	R303Q	probably benign	Het
Osbpl8	A	G	10: 111,105,288 (GRCm39)	T248A	probably benign	Het
Pias3	T	A	3: 96,611,679 (GRCm39)	S533T	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plxna1	A	G	6: 89,317,573 (GRCm39)	Y680H	probably damaging	Het
Pnliprp2	A	G	19: 58,763,659 (GRCm39)	N436S	probably benign	Het
Pold1	T	A	7: 44,191,244 (GRCm39)	M196L	probably benign	Het
Prkdc	G	A	16: 15,532,127 (GRCm39)	V1464I	probably benign	Het
Ptk2b	G	A	14: 66,394,536 (GRCm39)	Q857*	probably null	Het
Qars1	T	A	9: 108,387,331 (GRCm39)	L185Q	probably damaging	Het
Rabep1	A	G	11: 70,831,290 (GRCm39)	N859S	probably benign	Het
Rnf19b	A	G	4: 128,977,571 (GRCm39)	H156R		Het
Sart3	T	C	5: 113,891,703 (GRCm39)	Q423R	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Slc6a21	C	T	7: 44,930,182 (GRCm39)	H194Y	probably damaging	Het
Tcf4	G	A	18: 69,790,866 (GRCm39)	V420I	probably damaging	Het
Tjp1	T	C	7: 64,968,321 (GRCm39)	D701G	probably benign	Het
Trim42	T	C	9: 97,251,761 (GRCm39)	D46G	probably damaging	Het
Usp19	C	T	9: 108,372,123 (GRCm39)	R429*	probably null	Het
Uxs1	T	C	1: 43,804,087 (GRCm39)	N276S	probably damaging	Het
Vps50	A	G	6: 3,588,078 (GRCm39)	I684V	probably benign	Het
Yars2	T	A	16: 16,122,556 (GRCm39)	D307E	probably benign	Het
Zfp934	A	T	13: 62,665,964 (GRCm39)	C258S		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
R7418:Isl2	UTSW	9	55,451,636 (GRCm39)	missense	probably benign	0.00
R7457:Isl2	UTSW	9	55,452,240 (GRCm39)	missense	probably benign	0.03
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'- AAGCATTTTCCCTCTGGGTAAG -3'
(R):5'- CTGCTGTAGCTGCTTCATGAG -3'

Sequencing Primer
(F):5'- TTCCCTCTGGGTAAGGCGAG -3'
(R):5'- AGCTGCTTCATGAGAATGGACTTC -3'

Posted On

2019-09-18