Mutagenetix > Incidental Mutation

Incidental Mutation 'R1649:Ildr1'

174131

Institutional Source

Beutler Lab

Gene Symbol

Ildr1

Ensembl Gene

ENSMUSG00000022900

Gene Name

immunoglobulin-like domain containing receptor 1

Synonyms

MMRRC Submission

039685-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1649 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36693978-36726804 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36708319 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 42 (L42P)

Ref Sequence

ENSEMBL: ENSMUSP00000112539 (fasta)

Gene Model

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

AlphaFold

Q8CBR1

Predicted Effect

probably damaging
Transcript: ENSMUST00000023617
AA Change: L42P

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

SMART Domains

Protein: ENSMUSP00000023617
Gene: ENSMUSG00000022900
AA Change: L42P

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: L42P

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

SMART Domains

Protein: ENSMUSP00000087045
Gene: ENSMUSG00000022900
AA Change: L42P

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: L42P

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

SMART Domains

Protein: ENSMUSP00000112539
Gene: ENSMUSG00000022900
AA Change: L42P

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: ENSMUST00000153802

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 88.1%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430078G23Rik	A	G	8: 3,389,094		probably benign	Het
Akr1a1	T	A	4: 116,638,020	I261F	probably damaging	Het
Aldh1l1	T	C	6: 90,564,389	V255A	probably benign	Het
Ambn	T	A	5: 88,464,481	M172K	probably benign	Het
BC034090	T	C	1: 155,225,573	H315R	possibly damaging	Het
Btaf1	T	A	19: 36,981,722	D707E	probably benign	Het
C6	T	C	15: 4,735,257	L145P	possibly damaging	Het
Cav3	T	A	6: 112,472,246	L75Q	probably damaging	Het
Cavin2	T	A	1: 51,300,780	D205E	probably benign	Het
Cdadc1	T	C	14: 59,573,793	T423A	probably damaging	Het
Cep120	A	T	18: 53,724,576	H272Q	probably damaging	Het
Chd9	A	T	8: 90,932,601	Q63L	possibly damaging	Het
Clspn	T	C	4: 126,566,435		probably benign	Het
Cramp1l	G	T	17: 24,983,243	H422N	probably damaging	Het
Csn1s2b	A	T	5: 87,819,084	M71L	probably benign	Het
D630045J12Rik	C	A	6: 38,181,431	A1104S	probably damaging	Het
D930048N14Rik	A	G	11: 51,654,836		probably benign	Het
Ern2	G	A	7: 122,177,400	P366S	probably damaging	Het
Gm1527	T	C	3: 28,898,731	I60T	probably damaging	Het
Gse1	T	C	8: 120,578,515		probably benign	Het
Itih2	G	A	2: 10,105,735	T515I	probably benign	Het
Jcad	C	A	18: 4,673,309	P357Q	probably damaging	Het
Kitl	A	G	10: 100,064,114	T94A	probably benign	Het
Klri1	C	T	6: 129,698,241	M185I	probably benign	Het
Lsamp	A	T	16: 41,955,298	M171L	probably benign	Het
Macf1	T	G	4: 123,484,053	I1460L	probably damaging	Het
Map1b	C	G	13: 99,516,478	V4L	probably benign	Het
Mboat7	A	T	7: 3,685,818	V237D	probably benign	Het
Mctp2	A	T	7: 72,161,258	I656K	probably damaging	Het
Ms4a6b	A	G	19: 11,520,442	D35G	possibly damaging	Het
Nipsnap2	T	A	5: 129,753,237	I205N	probably damaging	Het
Nsd2	T	C	5: 33,854,640	V264A	probably damaging	Het
Oacyl	C	T	18: 65,750,096	T582I	probably damaging	Het
Olfm1	A	T	2: 28,229,267	T333S	possibly damaging	Het
Olfm4	G	A	14: 80,011,982	E180K	probably damaging	Het
Olfr127	T	C	17: 37,904,169	F208L	probably benign	Het
Olfr1368	A	T	13: 21,142,742	L105Q	probably damaging	Het
Olfr146	T	G	9: 39,019,480	Q20H	probably benign	Het
Parp4	T	A	14: 56,590,428	V212E	possibly damaging	Het
Pcdhb21	T	A	18: 37,515,613	N598K	probably damaging	Het
Piezo2	C	A	18: 63,117,672	W452L	probably benign	Het
Plec	C	A	15: 76,205,811	A110S	possibly damaging	Het
Popdc3	T	C	10: 45,315,224	Y144H	probably damaging	Het
Ptgdr	T	C	14: 44,858,502	H251R	probably benign	Het
Ptpro	T	A	6: 137,444,017	Y246*	probably null	Het
Pyroxd2	T	C	19: 42,738,134	D247G	probably damaging	Het
Robo2	T	C	16: 73,899,001	E1418G	probably benign	Het
Rtp3	T	C	9: 110,986,704	T198A	probably benign	Het
Sec16a	A	T	2: 26,425,524	V1767D	probably damaging	Het
Sept14	T	C	5: 129,697,755	N119D	probably benign	Het
Serpina5	A	T	12: 104,105,225	T364S	possibly damaging	Het
Setd2	A	G	9: 110,549,864	S632G	probably benign	Het
Sh3bp2	C	T	5: 34,559,004	A253V	possibly damaging	Het
Slc6a5	G	T	7: 49,936,262	G443C	probably damaging	Het
Spag9	T	A	11: 94,108,452		probably null	Het
Sptbn1	T	C	11: 30,137,301	E1033G	probably damaging	Het
Timm17a	T	G	1: 135,309,802	Q39P	probably damaging	Het
Tmem26	A	T	10: 68,751,273	T184S	probably damaging	Het
Tpi1	A	T	6: 124,812,928		probably null	Het
Tssk5	T	C	15: 76,373,803	Y118C	possibly damaging	Het
Ttll4	T	A	1: 74,697,470	L1118Q	possibly damaging	Het
Ttll5	T	A	12: 85,923,014	L691Q	probably damaging	Het
Vmn1r49	A	T	6: 90,072,641	H126Q	possibly damaging	Het
Zfp518b	A	T	5: 38,671,881	V927E	probably damaging	Het
Zfp618	T	C	4: 63,095,537	F213S	probably damaging	Het
Zfp759	T	A	13: 67,139,604	N406K	probably benign	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
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
R2111: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
R9642:Ildr1	UTSW	16	36716128	missense	probably damaging	1.00
R9681:Ildr1	UTSW	16	36708387	missense	probably damaging	1.00
R9707:Ildr1	UTSW	16	36709530	missense	probably damaging	1.00
R9777:Ildr1	UTSW	16	36708297	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- ATACTCCTCACTGGAGCCTGTGTC -3'
(R):5'- CGAGCTGGGGTCTTCCAAACAATG -3'

Sequencing Primer
(F):5'- CTCCCAGCCAATGCTAGG -3'
(R):5'- GTCTTCCAAACAATGGTGGC -3'

Posted On

2014-04-24