Mutagenetix > Incidental Mutation

Incidental Mutation 'R7028:Ildr2'

546096

Institutional Source

Beutler Lab

Gene Symbol

Ildr2

Ensembl Gene

ENSMUSG00000040612

Gene Name

immunoglobulin-like domain containing receptor 2

Synonyms

Dbsm1, ENSMUSG00000040612, OTTMUSG00000021748, 2810478N18Rik, 3110063L10Rik, D1Ertd471e

MMRRC Submission

045129-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.543) question?

Stock #

R7028 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

166081708-166144392 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 166131098 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 318 (D318G)

Ref Sequence

ENSEMBL: ENSMUSP00000107047 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111416] [ENSMUST00000192426] [ENSMUST00000192638] [ENSMUST00000192732] [ENSMUST00000193860] [ENSMUST00000194964] [ENSMUST00000195557]

AlphaFold

B5TVM2

Predicted Effect

probably damaging
Transcript: ENSMUST00000111416
AA Change: D318G

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

SMART Domains

Protein: ENSMUSP00000107047
Gene: ENSMUSG00000040612
AA Change: D318G

Domain	Start	End	E-Value	Type
transmembrane domain	19	41	N/A	INTRINSIC
IG	42	181	4.6e-3	SMART
Pfam:LSR	201	248	2e-26	PFAM
low complexity region	260	278	N/A	INTRINSIC
low complexity region	512	527	N/A	INTRINSIC
low complexity region	591	607	N/A	INTRINSIC
low complexity region	639	650	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192426

SMART Domains

Protein: ENSMUSP00000141961
Gene: ENSMUSG00000040612

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
IG	42	181	1.9e-5	SMART
IG_like	121	167	2.9e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000192638
AA Change: D299G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142311
Gene: ENSMUSG00000040612
AA Change: D299G

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
IG	42	181	1.9e-5	SMART
IG_like	121	167	2.9e-2	SMART
Pfam:LSR	182	230	2e-23	PFAM
low complexity region	241	259	N/A	INTRINSIC
low complexity region	493	508	N/A	INTRINSIC
low complexity region	572	588	N/A	INTRINSIC
low complexity region	620	631	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192732
AA Change: D191G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000141502
Gene: ENSMUSG00000040612
AA Change: D191G

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
IG	42	181	1.9e-5	SMART
IG_like	121	167	2.9e-2	SMART
low complexity region	385	400	N/A	INTRINSIC
low complexity region	464	480	N/A	INTRINSIC
low complexity region	512	523	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000193860
AA Change: D210G

SMART Domains

Protein: ENSMUSP00000141323
Gene: ENSMUSG00000040612
AA Change: D210G

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
IG	42	181	1.9e-5	SMART
IG_like	121	167	2.9e-2	SMART
low complexity region	404	419	N/A	INTRINSIC
low complexity region	483	499	N/A	INTRINSIC
low complexity region	531	542	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000194964
AA Change: D259G

SMART Domains

Protein: ENSMUSP00000142152
Gene: ENSMUSG00000040612
AA Change: D259G

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
IG	42	181	1.9e-5	SMART
IG_like	121	167	2.9e-2	SMART
Pfam:LSR	201	249	1.9e-23	PFAM
low complexity region	453	468	N/A	INTRINSIC
low complexity region	532	548	N/A	INTRINSIC
low complexity region	580	591	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000195557
AA Change: D318G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142240
Gene: ENSMUSG00000040612
AA Change: D318G

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
IG	42	181	1.9e-5	SMART
IG_like	121	167	2.9e-2	SMART
Pfam:LSR	201	249	1.2e-23	PFAM
low complexity region	260	278	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced stop mutation at threonine-87 display a reduced pancreatic beta-cell replication rate, decreased beta-cell mass, reduced insulin/glucose ratio in blood, impaired glucose tolerance, and persistent mild hypoinsulinemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	G	2: 69,096,019 (GRCm39)	I804T	probably benign	Het
Abcb1b	A	T	5: 8,855,441 (GRCm39)	E25V	probably damaging	Het
Adamts9	G	T	6: 92,886,774 (GRCm39)	Y355*	probably null	Het
Akp3	A	G	1: 87,054,500 (GRCm39)	M303V	probably benign	Het
Ankrd35	A	T	3: 96,590,650 (GRCm39)	E312V	possibly damaging	Het
Arhgap40	T	C	2: 158,373,294 (GRCm39)		probably null	Het
Asxl1	T	C	2: 153,242,027 (GRCm39)	L859P	probably benign	Het
Atat1	A	G	17: 36,220,897 (GRCm39)	F11L	probably benign	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Ccdc7a	A	T	8: 129,608,075 (GRCm39)	H943Q	unknown	Het
Cep135	A	G	5: 76,764,695 (GRCm39)	T558A	probably benign	Het
Cfap99	A	G	5: 34,458,863 (GRCm39)	E86G	possibly damaging	Het
Cfhr2	C	T	1: 139,758,801 (GRCm39)		probably null	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Col17a1	G	A	19: 47,640,622 (GRCm39)	P992L	probably damaging	Het
Col7a1	C	T	9: 108,792,331 (GRCm39)	Q1294*	probably null	Het
Coq8b	T	A	7: 26,939,293 (GRCm39)	C148S	probably damaging	Het
Csmd2	A	G	4: 128,171,021 (GRCm39)	N338S		Het
Cspg5	T	A	9: 110,075,959 (GRCm39)	S232T	possibly damaging	Het
Cyp2c67	A	G	19: 39,628,341 (GRCm39)	V201A	possibly damaging	Het
Dlgap3	G	A	4: 127,089,310 (GRCm39)	R302H	possibly damaging	Het
Dpy19l2	T	C	9: 24,539,547 (GRCm39)	I469V	probably benign	Het
Fam135b	T	C	15: 71,343,412 (GRCm39)	D401G	probably damaging	Het
Gabbr1	G	T	17: 37,375,629 (GRCm39)	G453*	probably null	Het
Gclc	C	A	9: 77,695,498 (GRCm39)	A440D	probably damaging	Het
Glyat	T	C	19: 12,627,723 (GRCm39)	I106T	probably benign	Het
Gm12185	T	C	11: 48,799,071 (GRCm39)	N474S	possibly damaging	Het
Gm17079	T	C	14: 51,930,494 (GRCm39)	H117R		Het
Ift70a2	A	T	2: 75,806,613 (GRCm39)	L633*	probably null	Het
Kcnd2	G	A	6: 21,216,177 (GRCm39)		probably benign	Het
Kif19a	C	T	11: 114,672,034 (GRCm39)	T207M	probably damaging	Het
Kif3a	G	T	11: 53,477,733 (GRCm39)	G401*	probably null	Het
Lactbl1	T	A	4: 136,360,286 (GRCm39)	L155Q	probably damaging	Het
Lrp1b	T	A	2: 41,136,023 (GRCm39)	D1649V	probably benign	Het
Lrrc37	C	T	11: 103,505,363 (GRCm39)	A26T	probably benign	Het
Map2k1	A	G	9: 64,101,105 (GRCm39)	V191A	probably benign	Het
Mdm4	A	T	1: 132,931,547 (GRCm39)	C165S	probably benign	Het
Med27	G	A	2: 29,399,446 (GRCm39)	W92*	probably null	Het
Muc20	A	T	16: 32,614,616 (GRCm39)	S254T	probably benign	Het
Myh1	A	G	11: 67,111,247 (GRCm39)	E1562G	possibly damaging	Het
Nlrp2	C	G	7: 5,331,571 (GRCm39)	R275P	possibly damaging	Het
Notch2	T	A	3: 98,009,703 (GRCm39)	N543K	probably damaging	Het
Nup214	T	A	2: 31,924,168 (GRCm39)	S1566T	probably benign	Het
Nxnl1	T	G	8: 72,015,437 (GRCm39)	E157A	possibly damaging	Het
Obscn	A	G	11: 58,969,959 (GRCm39)	L61P	probably damaging	Het
Ogg1	A	T	6: 113,306,237 (GRCm39)	I145F	probably damaging	Het
Or10d5j	T	C	9: 39,867,641 (GRCm39)	T197A	probably benign	Het
Or2b2	A	G	13: 21,887,440 (GRCm39)	K90E	possibly damaging	Het
Or2f1	G	A	6: 42,721,337 (GRCm39)	R122H	probably benign	Het
Or51h5	T	C	7: 102,577,149 (GRCm39)	F105L	probably damaging	Het
Pclo	A	G	5: 14,763,461 (GRCm39)	D3978G	unknown	Het
Pla2g4e	T	G	2: 120,000,676 (GRCm39)	D687A	probably damaging	Het
Pla2r1	T	C	2: 60,288,737 (GRCm39)	K632E	probably damaging	Het
Plg	A	T	17: 12,610,723 (GRCm39)	Q212L	probably damaging	Het
Poldip3	A	T	15: 83,015,698 (GRCm39)	N306K	probably damaging	Het
Pspn	A	G	17: 57,306,978 (GRCm39)	L13P	possibly damaging	Het
Ralgapa1	T	C	12: 55,804,844 (GRCm39)	E484G	probably damaging	Het
Rbmxl1	G	T	8: 79,233,286 (GRCm39)	T19K	probably damaging	Het
Rora	G	A	9: 69,103,365 (GRCm39)	V31I	possibly damaging	Het
Skint5	C	A	4: 113,798,036 (GRCm39)	W182C	probably damaging	Het
Spata31d1c	A	T	13: 65,183,877 (GRCm39)	Q473L	probably damaging	Het
Tesk2	G	A	4: 116,659,884 (GRCm39)	W334*	probably null	Het
Tmem67	C	A	4: 12,075,484 (GRCm39)	V277L	probably benign	Het
Trhde	A	G	10: 114,354,082 (GRCm39)	M537T	probably damaging	Het
Tubb6	G	A	18: 67,534,981 (GRCm39)	M293I	probably benign	Het
Ube2ql1	A	T	13: 69,886,873 (GRCm39)	L196Q	probably damaging	Het
Ubn1	A	T	16: 4,873,188 (GRCm39)	N70I	probably damaging	Het
Ubtf	A	T	11: 102,205,806 (GRCm39)	S40T	probably benign	Het
Virma	C	T	4: 11,519,249 (GRCm39)	A782V	possibly damaging	Het
Xdh	G	T	17: 74,250,868 (GRCm39)	T28K	probably damaging	Het
Xpo4	A	G	14: 57,834,508 (GRCm39)	S691P	probably benign	Het
Zfat	A	C	15: 68,052,301 (GRCm39)	F491V	probably damaging	Het
Zfp623	T	G	15: 75,820,154 (GRCm39)	V370G	probably damaging	Het

Other mutations in Ildr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01993:Ildr2	APN	1	166,096,939 (GRCm39)	missense	possibly damaging	0.76
R0079:Ildr2	UTSW	1	166,135,289 (GRCm39)	missense	probably damaging	1.00
R0371:Ildr2	UTSW	1	166,131,133 (GRCm39)	missense	probably damaging	1.00
R0426:Ildr2	UTSW	1	166,136,468 (GRCm39)	missense	probably benign	0.00
R1528:Ildr2	UTSW	1	166,098,064 (GRCm39)	splice site	probably null
R1570:Ildr2	UTSW	1	166,131,154 (GRCm39)	missense	probably damaging	1.00
R2143:Ildr2	UTSW	1	166,096,895 (GRCm39)	missense	probably damaging	1.00
R2760:Ildr2	UTSW	1	166,131,175 (GRCm39)	missense	probably damaging	1.00
R3960:Ildr2	UTSW	1	166,136,909 (GRCm39)	missense	probably damaging	0.99
R4965:Ildr2	UTSW	1	166,135,409 (GRCm39)	missense	probably damaging	1.00
R5101:Ildr2	UTSW	1	166,135,331 (GRCm39)	missense	probably damaging	1.00
R5351:Ildr2	UTSW	1	166,136,478 (GRCm39)	missense	possibly damaging	0.58
R6021:Ildr2	UTSW	1	166,131,173 (GRCm39)	missense	possibly damaging	0.77
R6841:Ildr2	UTSW	1	166,098,144 (GRCm39)	missense	probably damaging	1.00
R7117:Ildr2	UTSW	1	166,123,380 (GRCm39)	missense	probably damaging	1.00
R7169:Ildr2	UTSW	1	166,135,503 (GRCm39)	critical splice donor site	probably null
R7344:Ildr2	UTSW	1	166,122,166 (GRCm39)	missense	probably damaging	1.00
R7612:Ildr2	UTSW	1	166,135,361 (GRCm39)	missense	probably benign	0.43
R7697:Ildr2	UTSW	1	166,122,300 (GRCm39)	missense	probably benign	0.21
R7869:Ildr2	UTSW	1	166,136,861 (GRCm39)	missense	probably benign	0.01
R7908:Ildr2	UTSW	1	166,135,369 (GRCm39)	missense	probably damaging	1.00
R8688:Ildr2	UTSW	1	166,097,102 (GRCm39)	missense	probably damaging	1.00
R9181:Ildr2	UTSW	1	166,122,283 (GRCm39)	missense	probably damaging	1.00
R9258:Ildr2	UTSW	1	166,131,158 (GRCm39)	missense	probably damaging	1.00
R9435:Ildr2	UTSW	1	166,136,691 (GRCm39)	missense	probably damaging	0.98
R9647:Ildr2	UTSW	1	166,137,038 (GRCm39)	missense	probably benign	0.09
R9748:Ildr2	UTSW	1	166,096,889 (GRCm39)	missense	probably damaging	1.00
X0009:Ildr2	UTSW	1	166,096,880 (GRCm39)	missense	probably benign	0.05
Z1177:Ildr2	UTSW	1	166,136,618 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AACCCCTGATCGAGGATCTC -3'
(R):5'- TCGGGGCTTCAAATCTGATGAC -3'

Sequencing Primer
(F):5'- ATCGAGGATCTCAAGTGTGCC -3'
(R):5'- GGCTTCAAATCTGATGACCTCGG -3'

Posted On

2019-05-13