Mutagenetix > Incidental Mutation

Incidental Mutation 'R7105:Islr2'

551120

Institutional Source

Beutler Lab

Gene Symbol

Islr2

Ensembl Gene

ENSMUSG00000051243

Gene Name

immunoglobulin superfamily containing leucine-rich repeat 2

Synonyms

mbu-3, B930052A04Rik, Linx

MMRRC Submission

045197-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7105 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58103580-58111602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58105097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 765 (D765G)

Ref Sequence

ENSEMBL: ENSMUSP00000130879 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114144] [ENSMUST00000163200] [ENSMUST00000163897] [ENSMUST00000165276] [ENSMUST00000170421] [ENSMUST00000214647] [ENSMUST00000214649] [ENSMUST00000215950] [ENSMUST00000216231] [ENSMUST00000216297] [ENSMUST00000217050] [ENSMUST00000217427] [ENSMUST00000217512] [ENSMUST00000217578]

AlphaFold

Q5RKR3

Predicted Effect

probably damaging
Transcript: ENSMUST00000114144
AA Change: D721G

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

SMART Domains

Protein: ENSMUSP00000109781
Gene: ENSMUSG00000051243
AA Change: D721G

Domain	Start	End	E-Value	Type
LRRNT	19	55	1.1e-1	SMART
LRR	49	73	8.24e0	SMART
LRR	98	121	1.91e1	SMART
LRR	122	145	3.07e-1	SMART
LRR_TYP	146	169	1.58e-3	SMART
LRRCT	181	231	2.36e-12	SMART
IG	245	374	2.99e-2	SMART
low complexity region	510	535	N/A	INTRINSIC
transmembrane domain	591	613	N/A	INTRINSIC
low complexity region	662	682	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000163200
AA Change: D765G

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

SMART Domains

Protein: ENSMUSP00000130879
Gene: ENSMUSG00000051243
AA Change: D765G

Domain	Start	End	E-Value	Type
LRRNT	63	99	1.1e-1	SMART
LRR	93	117	8.24e0	SMART
LRR	142	165	1.91e1	SMART
LRR	166	189	3.07e-1	SMART
LRR_TYP	190	213	1.58e-3	SMART
LRRCT	225	275	2.36e-12	SMART
IG	289	418	2.99e-2	SMART
low complexity region	554	579	N/A	INTRINSIC
transmembrane domain	635	657	N/A	INTRINSIC
low complexity region	706	726	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000163897
AA Change: D721G

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

SMART Domains

Protein: ENSMUSP00000130322
Gene: ENSMUSG00000051243
AA Change: D721G

Domain	Start	End	E-Value	Type
LRRNT	19	55	1.1e-1	SMART
LRR	49	73	8.24e0	SMART
LRR	98	121	1.91e1	SMART
LRR	122	145	3.07e-1	SMART
LRR_TYP	146	169	1.58e-3	SMART
LRRCT	181	231	2.36e-12	SMART
IG	245	374	2.99e-2	SMART
low complexity region	510	535	N/A	INTRINSIC
transmembrane domain	591	613	N/A	INTRINSIC
low complexity region	662	682	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000165276
AA Change: D721G

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

SMART Domains

Protein: ENSMUSP00000129328
Gene: ENSMUSG00000051243
AA Change: D721G

Domain	Start	End	E-Value	Type
LRRNT	19	55	1.1e-1	SMART
LRR	49	73	8.24e0	SMART
LRR	98	121	1.91e1	SMART
LRR	122	145	3.07e-1	SMART
LRR_TYP	146	169	1.58e-3	SMART
LRRCT	181	231	2.36e-12	SMART
IG	245	374	2.99e-2	SMART
low complexity region	510	535	N/A	INTRINSIC
transmembrane domain	591	613	N/A	INTRINSIC
low complexity region	662	682	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000170421
AA Change: D721G

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

SMART Domains

Protein: ENSMUSP00000127228
Gene: ENSMUSG00000051243
AA Change: D721G

Domain	Start	End	E-Value	Type
LRRNT	19	55	1.1e-1	SMART
LRR	49	73	8.24e0	SMART
LRR	98	121	1.91e1	SMART
LRR	122	145	3.07e-1	SMART
LRR_TYP	146	169	1.58e-3	SMART
LRRCT	181	231	2.36e-12	SMART
IG	245	374	2.99e-2	SMART
low complexity region	510	535	N/A	INTRINSIC
transmembrane domain	591	613	N/A	INTRINSIC
low complexity region	662	682	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000214647

Predicted Effect

probably benign
Transcript: ENSMUST00000214649

Predicted Effect

probably damaging
Transcript: ENSMUST00000215950
AA Change: D721G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000216231

Predicted Effect

probably benign
Transcript: ENSMUST00000216297

Predicted Effect

probably benign
Transcript: ENSMUST00000217050

Predicted Effect

probably benign
Transcript: ENSMUST00000217427

Predicted Effect

probably benign
Transcript: ENSMUST00000217512

Predicted Effect

probably benign
Transcript: ENSMUST00000217578

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (65/68)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit perinatal lethality, absent tail pinch response, and defective peroneal and tibial nerve morphology and branch extension. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,347,842 (GRCm39)	I3565N	probably damaging	Het
Adam8	T	C	7: 139,569,968 (GRCm39)	E99G	probably benign	Het
Adnp2	A	C	18: 80,171,366 (GRCm39)	H1014Q	possibly damaging	Het
Agbl4	T	A	4: 111,423,920 (GRCm39)	N315K	probably benign	Het
Ankrd33b	G	T	15: 31,305,214 (GRCm39)	N183K	probably damaging	Het
Arhgef39	A	G	4: 43,498,913 (GRCm39)	S113P	possibly damaging	Het
Bdp1	G	A	13: 100,206,689 (GRCm39)	P618S	probably damaging	Het
Bhlhe40	C	T	6: 108,641,997 (GRCm39)	P314S	possibly damaging	Het
Birc2	A	C	9: 7,819,442 (GRCm39)	I490S	probably damaging	Het
Blm	T	C	7: 80,149,516 (GRCm39)	I698V	probably benign	Het
C4b	G	A	17: 34,949,885 (GRCm39)	T1433M	possibly damaging	Het
Car12	A	G	9: 66,659,688 (GRCm39)	T238A	probably damaging	Het
Cend1	G	A	7: 141,007,565 (GRCm39)	P85L	probably benign	Het
Cftr	A	T	6: 18,318,971 (GRCm39)	D1337V	probably damaging	Het
Chsy3	T	A	18: 59,309,491 (GRCm39)	M248K	probably damaging	Het
Chtf8	A	G	8: 107,611,883 (GRCm39)	F352S	probably damaging	Het
Cimip4	T	A	15: 78,270,318 (GRCm39)	D150V	possibly damaging	Het
Csf2ra	T	C	19: 61,213,458 (GRCm39)	D384G	possibly damaging	Het
Ctnnbip1	T	C	4: 149,630,937 (GRCm39)	S59P	probably benign	Het
Cyth3	A	G	5: 143,693,027 (GRCm39)	N312D	probably benign	Het
Dtnb	T	C	12: 3,698,391 (GRCm39)		probably null	Het
Duox2	A	G	2: 122,120,033 (GRCm39)	S826P	possibly damaging	Het
Enthd1	C	T	15: 80,393,410 (GRCm39)	A273T	probably benign	Het
Gm3138	T	C	14: 15,632,304 (GRCm39)	V159A	possibly damaging	Het
Hhip	T	C	8: 80,701,638 (GRCm39)	D632G	probably benign	Het
Igfn1	A	T	1: 135,911,956 (GRCm39)	C114S	probably benign	Het
Klf14	TCCCC	TCCC	6: 30,935,476 (GRCm39)		probably null	Het
Mapk12	G	A	15: 89,015,361 (GRCm39)	P362L	probably benign	Het
Msi1	T	G	5: 115,571,929 (GRCm39)	F96V	probably damaging	Het
Mthfd1l	T	C	10: 4,053,261 (GRCm39)	V870A	probably benign	Het
Nfat5	T	C	8: 108,095,823 (GRCm39)	S1355P	possibly damaging	Het
Oplah	T	C	15: 76,181,887 (GRCm39)	N1079D	probably damaging	Het
Or2ah1	G	T	2: 85,654,224 (GRCm39)	R303M	probably benign	Het
Osbpl1a	T	A	18: 12,900,020 (GRCm39)	I645F	probably benign	Het
Pank4	T	C	4: 155,064,624 (GRCm39)	S728P	probably benign	Het
Parp2	TTGCCATAAGTGCTAAATGAAGCC	T	14: 51,047,521 (GRCm39)		probably null	Het
Piezo1	A	G	8: 123,208,857 (GRCm39)	I2503T	unknown	Het
Plekhg6	A	G	6: 125,355,768 (GRCm39)	L12P	probably damaging	Het
Plekhs1	T	A	19: 56,465,647 (GRCm39)	F204Y	probably damaging	Het
Pramel26	T	C	4: 143,537,341 (GRCm39)	N330S	probably benign	Het
Pramel32	G	A	4: 88,548,339 (GRCm39)	S22F	probably damaging	Het
Prep	T	A	10: 45,002,159 (GRCm39)	I438N	probably benign	Het
Prss58	T	C	6: 40,874,700 (GRCm39)	H47R	probably damaging	Het
Rad51ap2	T	G	12: 11,508,278 (GRCm39)	D733E	possibly damaging	Het
Robo1	A	T	16: 72,539,049 (GRCm39)	I31F	probably damaging	Het
Setd2	A	G	9: 110,377,328 (GRCm39)	Y381C	probably damaging	Het
Slc47a2	A	G	11: 61,233,269 (GRCm39)	V87A	probably benign	Het
Slc5a9	T	C	4: 111,755,892 (GRCm39)	N2S	probably benign	Het
Spata13	A	G	14: 60,991,319 (GRCm39)	D1024G	probably damaging	Het
Stat1	T	G	1: 52,190,408 (GRCm39)	N554K	probably benign	Het
Suclg2	T	C	6: 95,572,635 (GRCm39)	D110G	possibly damaging	Het
Sult1c2	T	A	17: 54,280,917 (GRCm39)		probably null	Het
Taf5l	A	G	8: 124,729,951 (GRCm39)	I246T	probably damaging	Het
Tcof1	A	T	18: 60,976,368 (GRCm39)	D80E	probably damaging	Het
Tmem233	T	C	5: 116,221,057 (GRCm39)	Y63C	probably damaging	Het
Tshz3	A	G	7: 36,469,181 (GRCm39)	E390G	probably damaging	Het
Ttn	T	C	2: 76,560,610 (GRCm39)	T29264A	possibly damaging	Het
Ubr5	T	C	15: 38,009,019 (GRCm39)	T1065A		Het
Vcp	A	G	4: 42,985,991 (GRCm39)	V341A	probably damaging	Het
Vmn1r176	A	T	7: 23,534,748 (GRCm39)	L135*	probably null	Het
Vmn1r57	T	A	7: 5,223,499 (GRCm39)	I8N	probably damaging	Het
Ythdc2	C	T	18: 44,967,630 (GRCm39)	P209S	probably damaging	Het
Zfp213	A	T	17: 23,777,178 (GRCm39)	V288D	probably benign	Het
Zfp362	T	C	4: 128,668,319 (GRCm39)	I418V	probably damaging	Het
Zfp707	C	A	15: 75,846,595 (GRCm39)	T215K		Het
Zfp957	G	C	14: 79,450,402 (GRCm39)	R466G	probably benign	Het

Other mutations in Islr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Islr2	APN	9	58,107,069 (GRCm39)	missense	probably benign	0.03
IGL01444:Islr2	APN	9	58,105,661 (GRCm39)	missense	probably damaging	1.00
R0346:Islr2	UTSW	9	58,105,626 (GRCm39)	nonsense	probably null
R0360:Islr2	UTSW	9	58,107,027 (GRCm39)	missense	possibly damaging	0.82
R0364:Islr2	UTSW	9	58,107,027 (GRCm39)	missense	possibly damaging	0.82
R0528:Islr2	UTSW	9	58,106,645 (GRCm39)	missense	probably damaging	0.97
R0693:Islr2	UTSW	9	58,107,027 (GRCm39)	missense	possibly damaging	0.82
R1854:Islr2	UTSW	9	58,107,099 (GRCm39)	missense	probably damaging	0.97
R2893:Islr2	UTSW	9	58,105,149 (GRCm39)	missense	probably damaging	1.00
R3747:Islr2	UTSW	9	58,106,925 (GRCm39)	missense	probably benign	0.00
R3914:Islr2	UTSW	9	58,105,666 (GRCm39)	nonsense	probably null
R4176:Islr2	UTSW	9	58,107,183 (GRCm39)	missense	probably damaging	1.00
R4212:Islr2	UTSW	9	58,106,603 (GRCm39)	missense	probably damaging	1.00
R4844:Islr2	UTSW	9	58,115,517 (GRCm39)	unclassified	probably benign
R5303:Islr2	UTSW	9	58,115,558 (GRCm39)	unclassified	probably benign
R5636:Islr2	UTSW	9	58,108,584 (GRCm39)	missense	probably benign	0.03
R5787:Islr2	UTSW	9	58,105,637 (GRCm39)	missense	probably damaging	0.97
R5883:Islr2	UTSW	9	58,105,998 (GRCm39)	missense	probably benign	0.01
R6406:Islr2	UTSW	9	58,107,263 (GRCm39)	missense	probably benign
R7130:Islr2	UTSW	9	58,105,575 (GRCm39)	missense	probably damaging	1.00
R7316:Islr2	UTSW	9	58,105,250 (GRCm39)	missense	probably damaging	0.99
X0026:Islr2	UTSW	9	58,105,569 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATCCCTAGTAGTGACCCCTGG -3'
(R):5'- AGAAAAGCTACCCTGCTCG -3'

Sequencing Primer
(F):5'- GTAACTGAAGGCTTGGGGG -3'
(R):5'- CTACCCTGCTCGTGGCG -3'

Posted On

2019-05-15