Mutagenetix > Incidental Mutations

Incidental Mutation 'R8245:Ildr1'

640842

Institutional Source

Beutler Lab

Gene Symbol

Ildr1

Ensembl Gene

ENSMUSG00000022900

Gene Name

immunoglobulin-like domain containing receptor 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8245 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36693978-36726804 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36709521 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 90 (D90G)

Ref Sequence

ENSEMBL: ENSMUSP00000023617 (fasta)

Gene Model

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

AlphaFold

Q8CBR1

Predicted Effect

probably damaging
Transcript: ENSMUST00000023617
AA Change: D90G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000023617
Gene: ENSMUSG00000022900
AA Change: D90G

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: D90G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000087045
Gene: ENSMUSG00000022900
AA Change: D90G

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: D90G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112539
Gene: ENSMUSG00000022900
AA Change: D90G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (63/64)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	A	6: 142,594,144		probably null	Het
Adam4	A	T	12: 81,419,883	C655S	probably damaging	Het
Adamts13	A	C	2: 26,990,556	D717A	probably damaging	Het
Atf7ip2	A	G	16: 10,201,398	N30S	possibly damaging	Het
Bmp8b	T	C	4: 123,114,739	V166A	probably benign	Het
Bpifb9a	G	A	2: 154,262,726	G261R	probably benign	Het
Cdipt	G	T	7: 126,979,560	M174I	probably benign	Het
Cep128	T	C	12: 90,999,645	T1063A	probably benign	Het
Ciao1	A	G	2: 127,246,484	Y140H	probably damaging	Het
Cngb1	A	G	8: 95,297,780	S217P	unknown	Het
Cnot2	T	A	10: 116,510,389	I103F	probably benign	Het
Col27a1	T	G	4: 63,225,803	V576G	probably damaging	Het
Dapk1	T	A	13: 60,730,896	H566Q	probably benign	Het
Dhrs2	T	A	14: 55,241,180	C261S	possibly damaging	Het
Ercc4	G	C	16: 13,130,137	R406P	probably benign	Het
Fer1l4	A	G	2: 156,045,014		probably null	Het
Fhod3	T	A	18: 25,113,616	F1293Y	probably damaging	Het
Fsip1	T	A	2: 118,244,878	K218M	unknown	Het
Fsip2	G	T	2: 82,981,002	S2555I	possibly damaging	Het
Gfpt2	A	G	11: 49,823,958	K358E	probably benign	Het
Gm44444	T	C	10: 129,410,106	S247P	probably damaging	Het
Gm9637	A	T	14: 19,402,598	V1D	noncoding transcript	Het
H2-M10.6	T	C	17: 36,813,263		probably null	Het
Hand2	A	G	8: 57,321,959	Y18C	probably damaging	Het
Helz2	A	T	2: 181,238,102	V607E	probably damaging	Het
Hps5	G	A	7: 46,769,061	R862*	probably null	Het
Ints12	A	G	3: 133,108,872	N280S	probably benign	Het
Ippk	C	T	13: 49,446,342	P226S		Het
Itpr2	T	A	6: 146,373,106	K859N	probably damaging	Het
Kdelc1	A	T	1: 44,117,066	H120Q	probably benign	Het
Lhx9	G	T	1: 138,838,441	A212D	probably benign	Het
Myo6	C	T	9: 80,254,947	T322I	unknown	Het
Ndufaf4	A	G	4: 24,898,648	D71G	probably benign	Het
Nrp1	T	A	8: 128,487,953	S641T	probably benign	Het
Nudt7	A	T	8: 114,136,340	N37I	probably damaging	Het
Obscn	T	A	11: 59,022,240	I271F		Het
Olfr1015	A	G	2: 85,785,775	E88G	probably benign	Het
Olfr462	G	A	11: 87,889,617	S93F	probably damaging	Het
Olfr698	T	C	7: 106,753,167	T74A	probably benign	Het
Olfr830	T	C	9: 18,875,830	Y168H	probably benign	Het
Oxa1l	T	C	14: 54,367,817	S317P	probably damaging	Het
Polr2a	C	T	11: 69,739,953	R1213H	probably damaging	Het
Postn	A	T	3: 54,376,047	S516C	probably null	Het
Rabep2	A	G	7: 126,440,408	T336A	possibly damaging	Het
Ralgapb	G	A	2: 158,443,336	C585Y	probably damaging	Het
Rexo4	A	G	2: 26,960,338	S276P	probably damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCTGCGGCGGC	7: 97,579,915		probably benign	Het
Sall3	G	A	18: 80,973,754	P320S	probably benign	Het
Sipa1l3	A	G	7: 29,400,364	L160P	probably damaging	Het
Sphkap	A	G	1: 83,278,771	F419S	probably benign	Het
Stag1	C	A	9: 100,929,893	T808K	probably benign	Het
Stam2	G	T	2: 52,714,919	N201K	possibly damaging	Het
Stat1	G	A	1: 52,155,019	R704Q	probably benign	Het
Tacc2	A	G	7: 130,729,573	D2236G	probably damaging	Het
Thsd7a	T	A	6: 12,379,593	Y944F		Het
Tmem225	G	T	9: 40,150,659	V190F	probably damaging	Het
Tonsl	A	T	15: 76,636,822	V400D	probably benign	Het
Tpp2	G	A	1: 43,983,552	G971D	probably damaging	Het
Trh	C	T	6: 92,243,069	V89I	probably benign	Het
Txlnb	A	G	10: 17,841,457	D404G	probably damaging	Het
Uggt1	A	G	1: 36,165,564	V990A	probably damaging	Het
Vmn1r179	T	A	7: 23,928,971	Y196N	possibly damaging	Het
Vmn2r8	T	C	5: 108,798,070	D557G	probably damaging	Het
Zfp516	G	T	18: 82,956,333	G219C	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
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
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'- AAGGGGCTTGGAGGCTTATC -3'
(R):5'- TGACCAGTTCAGTCATCGAGC -3'

Sequencing Primer
(F):5'- GCTTATCGATGCGATGCAAG -3'
(R):5'- GGAATCCCTTGCTGACTCAG -3'

Posted On

2020-07-28