Mutagenetix > Incidental Mutation

Incidental Mutation 'R8738:Isl2'

663172

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

068585-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8738 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55445956-55453464 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 55452722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 327 (S327A)

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: S327A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000034869
Gene: ENSMUSG00000032318
AA Change: S327A

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: 99.8%
20x: 99.3%

Validation Efficiency

97% (76/78)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	G	A	9: 15,196,214 (GRCm39)	T283M	probably damaging	Het
Abca9	A	G	11: 110,056,817 (GRCm39)	M1T	probably null	Het
Ackr1	T	C	1: 173,159,952 (GRCm39)	Y189C	probably damaging	Het
Acsm4	A	G	7: 119,304,264 (GRCm39)	D303G	probably benign	Het
Arfgef2	A	T	2: 166,708,867 (GRCm39)	M1060L	probably benign	Het
Arhgef40	T	A	14: 52,238,414 (GRCm39)	F1298I	probably damaging	Het
Atg2a	T	C	19: 6,306,674 (GRCm39)	I1453T	probably benign	Het
B4galnt1	A	T	10: 127,007,584 (GRCm39)	D495V	probably benign	Het
Brpf3	T	A	17: 29,040,214 (GRCm39)	D878E	probably benign	Het
C3	A	G	17: 57,511,015 (GRCm39)	*1664R	probably null	Het
Cap2	A	G	13: 46,684,548 (GRCm39)	T73A	probably benign	Het
Ccr6	A	T	17: 8,475,394 (GRCm39)	I200F	probably damaging	Het
Cdc42bpb	C	T	12: 111,274,221 (GRCm39)	G1021R	probably benign	Het
Cidea	C	A	18: 67,499,485 (GRCm39)	S124*	probably null	Het
Cnst	C	A	1: 179,420,274 (GRCm39)	T135K	probably benign	Het
Crebbp	A	T	16: 3,936,952 (GRCm39)	M805K	probably benign	Het
Crybb1	A	G	5: 112,411,439 (GRCm39)	Y119C	probably damaging	Het
Cux1	G	T	5: 136,402,220 (GRCm39)	T121K	probably damaging	Het
Dnah11	A	T	12: 118,049,384 (GRCm39)		probably null	Het
Dnmbp	T	C	19: 43,900,677 (GRCm39)	T48A	probably damaging	Het
Dysf	G	A	6: 84,171,353 (GRCm39)	G1787E	probably damaging	Het
Gcm2	T	A	13: 41,258,096 (GRCm39)	R177S	probably benign	Het
Gdf6	G	T	4: 9,859,429 (GRCm39)	R170S	probably damaging	Het
Gm16686	A	T	4: 88,673,775 (GRCm39)	M18K	unknown	Het
Gm36864	C	T	7: 43,886,304 (GRCm39)	Q179*	probably null	Het
Golgb1	A	G	16: 36,736,675 (GRCm39)	D2015G	probably damaging	Het
Gtf2i	A	G	5: 134,324,374 (GRCm39)	L30P	probably damaging	Het
Herc2	A	G	7: 55,798,402 (GRCm39)	E1955G	possibly damaging	Het
Hes3	A	T	4: 152,372,132 (GRCm39)	D37E	probably damaging	Het
Igha	A	G	12: 113,223,144 (GRCm39)	V161A	probably damaging	Het
Itk	A	G	11: 46,231,539 (GRCm39)	L339P	probably damaging	Het
Kcnb2	T	C	1: 15,780,648 (GRCm39)	S507P	probably benign	Het
Lgals4	C	T	7: 28,540,921 (GRCm39)	R282C	probably damaging	Het
Lhfpl4	C	A	6: 113,171,034 (GRCm39)	V51L	possibly damaging	Het
Lhpp	A	G	7: 132,243,261 (GRCm39)	Y159C	probably damaging	Het
Lrwd1	C	A	5: 136,162,257 (GRCm39)	E159*	probably null	Het
Map3k13	A	G	16: 21,745,008 (GRCm39)	T856A	probably damaging	Het
Mcm8	A	G	2: 132,665,141 (GRCm39)	T206A	probably benign	Het
Megf6	A	G	4: 154,352,436 (GRCm39)	K1265R	probably benign	Het
Mrgprb2	A	G	7: 48,202,648 (GRCm39)	Y26H	probably benign	Het
Mug1	T	C	6: 121,817,208 (GRCm39)		probably benign	Het
Mysm1	C	T	4: 94,856,196 (GRCm39)	G134S	probably damaging	Het
Nlrp3	A	C	11: 59,440,216 (GRCm39)	I598L	probably benign	Het
Npas2	A	T	1: 39,331,797 (GRCm39)	I71F	possibly damaging	Het
Nr1h5	A	G	3: 102,862,015 (GRCm39)	S85P	probably benign	Het
Nrcam	T	A	12: 44,619,075 (GRCm39)	V868D	possibly damaging	Het
Oas1a	A	G	5: 121,040,019 (GRCm39)	F191L	probably damaging	Het
Or14j8	A	T	17: 38,263,673 (GRCm39)	Y81N	possibly damaging	Het
Orc3	A	T	4: 34,599,778 (GRCm39)	L125H	possibly damaging	Het
Osbpl7	A	G	11: 96,946,903 (GRCm39)	E402G	possibly damaging	Het
Otof	G	A	5: 30,545,968 (GRCm39)	Q462*	probably null	Het
Phlda2	A	C	7: 143,055,959 (GRCm39)	I90S	probably damaging	Het
Plin3	C	T	17: 56,593,490 (GRCm39)	V75I	probably benign	Het
Pms1	A	T	1: 53,321,195 (GRCm39)	S13T	possibly damaging	Het
Ppm1d	A	G	11: 85,236,732 (GRCm39)	K504E	probably damaging	Het
Rflna	A	T	5: 125,087,541 (GRCm39)	I93F	probably damaging	Het
Rnpc3	T	A	3: 113,414,805 (GRCm39)	M193L	probably benign	Het
Sema3e	A	T	5: 14,214,169 (GRCm39)	I145F	possibly damaging	Het
Serpinb1b	C	A	13: 33,271,500 (GRCm39)	N90K	probably damaging	Het
Sfswap	A	G	5: 129,620,345 (GRCm39)	D538G	possibly damaging	Het
Snx14	A	T	9: 88,289,453 (GRCm39)	D266E	possibly damaging	Het
Stat4	C	T	1: 52,115,711 (GRCm39)	T217M	possibly damaging	Het
Taf13	T	C	3: 108,485,444 (GRCm39)	M40T	probably damaging	Het
Tenm4	A	G	7: 96,523,047 (GRCm39)	T1530A	probably damaging	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tnfrsf14	T	C	4: 155,007,710 (GRCm39)	I220M	possibly damaging	Het
Tnk2	T	C	16: 32,484,718 (GRCm39)	W60R	probably damaging	Het
Tph2	A	T	10: 115,015,614 (GRCm39)		probably benign	Het
Unc13b	A	T	4: 43,177,564 (GRCm39)	K2797N	unknown	Het
Upf1	C	G	8: 70,785,973 (GRCm39)	M995I	probably benign	Het
Upf1	G	A	8: 70,785,972 (GRCm39)	P996S	probably benign	Het
Vcan	C	T	13: 89,840,439 (GRCm39)	V1702M	probably benign	Het
Vmn2r57	T	C	7: 41,077,020 (GRCm39)	D382G	probably benign	Het
Xxylt1	C	T	16: 30,899,964 (GRCm39)	A64T	probably benign	Het
Zcchc8	A	G	5: 123,841,070 (GRCm39)	S407P	probably damaging	Het
Zdhhc19	T	A	16: 32,317,187 (GRCm39)	F109Y	probably damaging	Het
Zfp638	T	C	6: 83,931,745 (GRCm39)		probably null	Het
Zfp691	A	G	4: 119,027,861 (GRCm39)	S124P	probably damaging	Het
Zfp804a	T	A	2: 82,089,450 (GRCm39)	V1093D	probably damaging	Het
Zfp986	A	C	4: 145,625,550 (GRCm39)	Q70P	probably benign	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
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
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'- CAATGAGAAAGCCTGCTGGG -3'
(R):5'- TTTTCAGAGCTGGAATGGCCTG -3'

Sequencing Primer
(F):5'- CAGCTGACACTAACCCGGTTTTAATG -3'
(R):5'- CTGGAATGGCCTGAGCATG -3'

Posted On

2021-03-08