Mutagenetix > Incidental Mutations

Incidental Mutation 'R2111:Ildr1'

232598

Institutional Source

Beutler Lab

Gene Symbol

Ildr1

Ensembl Gene

ENSMUSG00000022900

Gene Name

immunoglobulin-like domain containing receptor 1

Synonyms

MMRRC Submission

040115-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2111 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36693978-36726804 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36721979 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 247 (E247G)

Ref Sequence

ENSEMBL: ENSMUSP00000087045 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023617] [ENSMUST00000089618] [ENSMUST00000119464]

AlphaFold

Q8CBR1

Predicted Effect

probably damaging
Transcript: ENSMUST00000023617
AA Change: E291G

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

SMART Domains

Protein: ENSMUSP00000023617
Gene: ENSMUSG00000022900
AA Change: E291G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IG	29	165	2.34e-4	SMART
Pfam:LSR	166	213	3e-27	PFAM
low complexity region	255	268	N/A	INTRINSIC
low complexity region	424	472	N/A	INTRINSIC
low complexity region	481	489	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000089618
AA Change: E247G

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

SMART Domains

Protein: ENSMUSP00000087045
Gene: ENSMUSG00000022900
AA Change: E247G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IG	29	165	2.34e-4	SMART
Pfam:LSR	166	214	2.8e-27	PFAM
low complexity region	380	428	N/A	INTRINSIC
low complexity region	437	445	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000119464
AA Change: E291G

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

SMART Domains

Protein: ENSMUSP00000112539
Gene: ENSMUSG00000022900
AA Change: E291G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IG	29	165	2.34e-4	SMART
Pfam:LSR	166	214	3e-27	PFAM
low complexity region	255	268	N/A	INTRINSIC
low complexity region	424	472	N/A	INTRINSIC
low complexity region	481	489	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128084

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153802

Meta Mutation Damage Score

0.1562

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (86/86)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains an immunoglobulin-like domain. The encoded protein may function as a multimeric receptor at the cell surface. The expression of this gene may be a diagnostic marker for cancer progression. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous inactivation of this gene leads to progressive cochlear hair cell degeneration and profound deafness. Mice homozygous for a gene trap allele also exhibit impaired lipid-induced cholecystokinin secretion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330161L09Rik	T	C	12: 103,407,589		probably benign	Het
Abca2	A	T	2: 25,437,505	I669F	possibly damaging	Het
Adam9	C	T	8: 24,982,126		probably benign	Het
Adprhl1	A	G	8: 13,248,694	Y79H	probably damaging	Het
Akp3	A	T	1: 87,126,885		probably null	Het
Alpk2	T	C	18: 65,349,774	S388G	probably benign	Het
Amph	G	A	13: 19,116,266		probably benign	Het
Arr3	T	A	X: 100,614,641	F269L	possibly damaging	Het
Atp2a2	A	G	5: 122,459,546	F808S	probably damaging	Het
Baz1a	T	A	12: 54,911,385	N1027I	probably damaging	Het
C2cd4c	G	T	10: 79,612,421	H297Q	probably damaging	Het
Calr3	T	A	8: 72,427,268	D160V	probably damaging	Het
Cdc42ep1	C	T	15: 78,847,492	R46C	probably damaging	Het
Cdh23	G	T	10: 60,305,583	F3127L	probably damaging	Het
Cps1	T	A	1: 67,176,980	D821E	probably benign	Het
Cyp2e1	C	A	7: 140,773,634	T328K	probably damaging	Het
Dcp1a	T	C	14: 30,519,370	V379A	probably benign	Het
Dst	T	C	1: 34,169,178	S737P	probably damaging	Het
Dtx2	C	T	5: 136,030,577	S493F	probably damaging	Het
Eci2	A	G	13: 34,990,716		probably null	Het
Ercc6l2	A	G	13: 63,834,749	T126A	probably damaging	Het
Fgf6	T	C	6: 127,015,760	S59P	probably damaging	Het
Fmnl2	A	G	2: 53,105,537	E424G	probably damaging	Het
Gapvd1	G	T	2: 34,684,317	A1256D	probably benign	Het
Gcfc2	C	A	6: 81,923,778	D24E	probably benign	Het
Gigyf2	A	G	1: 87,440,730	H1044R	probably damaging	Het
Gk2	T	C	5: 97,456,305	I225V	probably benign	Het
Gm3944	C	A	12: 18,853,894	S8*	probably null	Het
Gm4788	T	A	1: 139,774,679		probably benign	Het
Gnl3l	A	G	X: 150,997,294	S217P	probably damaging	Het
Gpr156	A	G	16: 37,978,751	D109G	probably benign	Het
Hoxd1	A	T	2: 74,763,366	T89S	probably benign	Het
Ift172	G	A	5: 31,286,079	T112M	probably benign	Het
Igkv1-115	C	A	6: 68,161,629	S72*	probably null	Het
Insr	A	G	8: 3,169,748	S925P	probably benign	Het
Itpr1	T	G	6: 108,378,309		probably benign	Het
Khdrbs3	C	T	15: 69,024,824	T111I	probably benign	Het
Mageb3	A	G	2: 121,954,825		probably null	Het
Mcf2l	A	T	8: 13,001,867	K433N	probably damaging	Het
Mdn1	A	G	4: 32,700,409	E1456G	probably damaging	Het
Mta1	C	T	12: 113,131,628	T467I	probably damaging	Het
Mtr	A	T	13: 12,244,601	I196N	possibly damaging	Het
Mtus1	G	T	8: 41,022,571	P819T	probably damaging	Het
Myh1	G	A	11: 67,214,620	D1079N	possibly damaging	Het
Nav1	C	T	1: 135,449,004	R1694Q	probably damaging	Het
Neb	A	G	2: 52,284,263	I1528T	probably benign	Het
Nek1	T	A	8: 61,124,326		probably null	Het
Nes	A	G	3: 87,977,311	E915G	probably benign	Het
Nlrp4f	T	C	13: 65,199,353	I30M	probably benign	Het
Nup153	A	G	13: 46,683,928	S1273P	probably benign	Het
Nup155	A	G	15: 8,121,467	I334V	probably benign	Het
Olfr1085	G	T	2: 86,658,437	T7K	probably damaging	Het
Olfr1170	A	G	2: 88,224,474	V186A	possibly damaging	Het
Olfr1469	G	A	19: 13,410,943	A125T	probably damaging	Het
Olfr213	T	C	6: 116,540,650	Y66H	possibly damaging	Het
Olfr397	A	G	11: 73,964,914	Y102C	probably damaging	Het
Olfr418	A	T	1: 173,270,312	M46L	probably benign	Het
Olfr910	T	A	9: 38,539,280	N128K	probably benign	Het
Parn	G	A	16: 13,603,069	S473L	probably damaging	Het
Pcnt	T	C	10: 76,420,526	K627E	probably damaging	Het
Pja2	T	A	17: 64,290,036	D553V	probably damaging	Het
Prune2	T	C	19: 17,208,238	F3004L	probably damaging	Het
Rasgrp3	T	C	17: 75,500,758		probably null	Het
Rdh13	A	G	7: 4,445,483	V10A	probably benign	Het
Rimbp2	T	C	5: 128,773,501	Y906C	probably damaging	Het
Ripor1	T	C	8: 105,614,712	F59S	probably damaging	Het
Rnf185	T	C	11: 3,432,393		probably benign	Het
Runx3	T	C	4: 135,155,316	V107A	probably damaging	Het
Scn3b	T	C	9: 40,282,445	V156A	probably benign	Het
Serpina3a	G	A	12: 104,116,222	A85T	probably damaging	Het
Slc12a7	C	T	13: 73,785,155	R111*	probably null	Het
Slc5a5	A	T	8: 70,889,751		probably null	Het
Snx13	A	T	12: 35,138,085	L787F	probably damaging	Het
Spef2	A	T	15: 9,589,573	M1535K	probably damaging	Het
Sphkap	T	G	1: 83,275,881	K1382N	probably benign	Het
Tagap1	A	G	17: 6,956,860	S146P	probably benign	Het
Tagln3	A	G	16: 45,711,594	Y192H	probably damaging	Het
Tbc1d15	A	C	10: 115,240,914	S22A	possibly damaging	Het
Tbc1d31	A	G	15: 57,932,644	E211G	probably benign	Het
Tmod3	A	G	9: 75,509,363	V229A	probably damaging	Het
Ubr2	A	G	17: 46,963,145		probably null	Het
Ugt2b36	T	C	5: 87,092,241	E95G	probably benign	Het
Unc45b	G	A	11: 82,911,689	A4T	probably benign	Het
Usp40	A	G	1: 87,950,214	I1117T	probably benign	Het
Vcan	T	A	13: 89,693,303	D414V	probably damaging	Het
Xrn1	C	A	9: 96,039,832	H1433N	probably benign	Het
Zfp353-ps	T	A	8: 42,082,968		noncoding transcript	Het
Zfp74	G	A	7: 29,935,018	Q422*	probably null	Het
Zmym3	A	T	X: 101,407,387	V1208D	probably damaging	Het

Other mutations in Ildr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02501:Ildr1	APN	16	36722350	missense	probably damaging	1.00
IGL02505:Ildr1	APN	16	36716164	missense	probably damaging	1.00
R0295:Ildr1	UTSW	16	36709477	critical splice acceptor site	probably null
R1649:Ildr1	UTSW	16	36708319	missense	probably damaging	1.00
R1728:Ildr1	UTSW	16	36708336	missense	possibly damaging	0.80
R1990:Ildr1	UTSW	16	36716206	missense	probably damaging	0.99
R2020:Ildr1	UTSW	16	36725541	missense	probably damaging	0.97
R2110:Ildr1	UTSW	16	36721979	missense	probably damaging	1.00
R4755:Ildr1	UTSW	16	36722021	missense	probably benign	0.00
R4798:Ildr1	UTSW	16	36722555	missense	possibly damaging	0.66
R4973:Ildr1	UTSW	16	36708298	missense	probably benign	0.10
R5014:Ildr1	UTSW	16	36721559	missense	probably damaging	0.98
R5426:Ildr1	UTSW	16	36709619	missense	probably damaging	1.00
R5957:Ildr1	UTSW	16	36725534	makesense	probably null
R7058:Ildr1	UTSW	16	36722368	missense	probably benign	0.01
R7646:Ildr1	UTSW	16	36721919	missense	possibly damaging	0.78
R8245:Ildr1	UTSW	16	36709521	missense	probably damaging	1.00
R8392:Ildr1	UTSW	16	36722358	nonsense	probably null
R8392:Ildr1	UTSW	16	36722359	missense	probably damaging	1.00
R8748:Ildr1	UTSW	16	36722372	missense	probably benign	0.18
R8791:Ildr1	UTSW	16	36708400	missense	probably damaging	0.96
R8854:Ildr1	UTSW	16	36715548	missense	probably damaging	1.00
R9108:Ildr1	UTSW	16	36715557	missense	probably benign	0.13
R9252:Ildr1	UTSW	16	36716212	missense	probably damaging	1.00
R9372:Ildr1	UTSW	16	36722359	missense	probably damaging	1.00
R9434:Ildr1	UTSW	16	36709500	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGTGACATTTTGATGCCCTG -3'
(R):5'- CTCACTCAGATCGCAGTGTC -3'

Sequencing Primer
(F):5'- ATGCCCTGGTTCCTAGGAG -3'
(R):5'- CTCAGATCGCAGTGTCTGGAAG -3'

Posted On

2014-09-18