Mutagenetix > Incidental Mutation

Incidental Mutation 'R9434:Ildr1'

713193

Institutional Source

Beutler Lab

Gene Symbol

Ildr1

Ensembl Gene

ENSMUSG00000022900

Gene Name

immunoglobulin-like domain containing receptor 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9434 (G1)

Quality Score

215.009

Status

Validated

Chromosome

Chromosomal Location

36514340-36547166 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36529862 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 83 (L83Q)

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: L83Q

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

SMART Domains

Protein: ENSMUSP00000023617
Gene: ENSMUSG00000022900
AA Change: L83Q

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: L83Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000087045
Gene: ENSMUSG00000022900
AA Change: L83Q

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: L83Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112539
Gene: ENSMUSG00000022900
AA Change: L83Q

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: 99.6%
20x: 98.7%

Validation Efficiency

98% (49/50)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam24	A	G	8: 41,133,284 (GRCm39)	I251V	probably benign	Het
Adgrv1	T	C	13: 81,666,292 (GRCm39)		probably benign	Het
Adipoq	A	G	16: 22,965,697 (GRCm39)		probably benign	Het
Adnp	C	T	2: 168,026,377 (GRCm39)	R306Q	probably damaging	Het
Akap11	A	T	14: 78,747,829 (GRCm39)	N1519K		Het
Bach1	C	G	16: 87,516,603 (GRCm39)	S381R	probably benign	Het
Cdc14a	T	C	3: 116,217,092 (GRCm39)	M15V	probably benign	Het
Cgn	T	C	3: 94,672,837 (GRCm39)	D947G	probably damaging	Het
Crhr2	A	T	6: 55,069,512 (GRCm39)	F381I	probably damaging	Het
Dmxl1	G	T	18: 50,010,788 (GRCm39)	A982S	probably damaging	Het
Efcab3	T	C	11: 104,899,863 (GRCm39)	V4375A	probably benign	Het
Epha5	T	C	5: 84,479,227 (GRCm39)	E259G	possibly damaging	Het
Erbb4	T	C	1: 68,081,773 (GRCm39)	D1087G	possibly damaging	Het
Fcgr2b	A	T	1: 170,793,385 (GRCm39)	S215T	probably benign	Het
Fsip2	A	T	2: 82,816,702 (GRCm39)	Y4145F	possibly damaging	Het
Fyb2	C	T	4: 104,847,534 (GRCm39)	T518M	probably damaging	Het
Galk1	C	T	11: 115,903,494 (GRCm39)	W4*	probably null	Het
Gmds	C	A	13: 32,284,369 (GRCm39)	D248Y	probably damaging	Het
Herc3	T	A	6: 58,853,846 (GRCm39)	F631I	probably benign	Het
Hhla1	T	C	15: 65,839,226 (GRCm39)	K55E	possibly damaging	Het
Il17rb	T	C	14: 29,728,054 (GRCm39)	E51G	probably damaging	Het
Ints9	A	G	14: 65,245,506 (GRCm39)	I255V	probably benign	Het
Itga9	G	T	9: 118,636,315 (GRCm39)	D668Y	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Klhl35	A	G	7: 99,119,547 (GRCm39)	Y344C	probably damaging	Het
Klra4	A	G	6: 130,040,083 (GRCm39)	V63A	possibly damaging	Het
Lgr4	A	G	2: 109,836,907 (GRCm39)	T414A	probably benign	Het
Lmbrd2	C	T	15: 9,157,314 (GRCm39)	T184M	probably benign	Het
Lrp1	T	C	10: 127,381,689 (GRCm39)	D3795G	possibly damaging	Het
N6amt1	T	A	16: 87,159,421 (GRCm39)	L109Q	possibly damaging	Het
Ncoa1	A	G	12: 4,365,755 (GRCm39)	C215R	probably benign	Het
Ngef	G	A	1: 87,408,315 (GRCm39)	S584F	possibly damaging	Het
Notch4	T	C	17: 34,801,673 (GRCm39)	C1174R	probably damaging	Het
Opa1	T	C	16: 29,404,874 (GRCm39)	I24T	probably benign	Het
Or10v1	A	C	19: 11,873,393 (GRCm39)	I3L	probably benign	Het
Or1e1b-ps1	A	T	11: 73,845,662 (GRCm39)	I49F	probably damaging	Het
Or1o4	T	C	17: 37,591,254 (GRCm39)	E19G	probably benign	Het
Or4a15	A	G	2: 89,193,692 (GRCm39)	V27A	probably benign	Het
Pcnx2	A	G	8: 126,542,512 (GRCm39)	V1223A	probably benign	Het
Phf14	A	G	6: 11,933,492 (GRCm39)	K118R	unknown	Het
Plcd1	A	T	9: 118,905,231 (GRCm39)	M186K	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Sumf1	A	T	6: 108,130,096 (GRCm39)	C233S	possibly damaging	Het
Tbc1d12	A	G	19: 38,902,461 (GRCm39)	K540R	probably benign	Het
Tmem150c	T	C	5: 100,240,643 (GRCm39)	N73S	probably damaging	Het
Tpra1	T	C	6: 88,888,774 (GRCm39)	S319P	probably benign	Het
Ttk	C	A	9: 83,750,143 (GRCm39)	Y699*	probably null	Het
Vmn1r196	T	A	13: 22,477,790 (GRCm39)	L143*	probably null	Het
Vmn2r84	A	G	10: 130,221,745 (GRCm39)	V825A	possibly damaging	Het
Zpld2	T	G	4: 133,929,553 (GRCm39)	T251P	probably benign	Het

Other mutations in Ildr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02501:Ildr1	APN	16	36,542,712 (GRCm39)	missense	probably damaging	1.00
IGL02505:Ildr1	APN	16	36,536,526 (GRCm39)	missense	probably damaging	1.00
R0295:Ildr1	UTSW	16	36,529,839 (GRCm39)	critical splice acceptor site	probably null
R1649:Ildr1	UTSW	16	36,528,681 (GRCm39)	missense	probably damaging	1.00
R1728:Ildr1	UTSW	16	36,528,698 (GRCm39)	missense	possibly damaging	0.80
R1990:Ildr1	UTSW	16	36,536,568 (GRCm39)	missense	probably damaging	0.99
R2020:Ildr1	UTSW	16	36,545,903 (GRCm39)	missense	probably damaging	0.97
R2110:Ildr1	UTSW	16	36,542,341 (GRCm39)	missense	probably damaging	1.00
R2111:Ildr1	UTSW	16	36,542,341 (GRCm39)	missense	probably damaging	1.00
R4755:Ildr1	UTSW	16	36,542,383 (GRCm39)	missense	probably benign	0.00
R4798:Ildr1	UTSW	16	36,542,917 (GRCm39)	missense	possibly damaging	0.66
R4973:Ildr1	UTSW	16	36,528,660 (GRCm39)	missense	probably benign	0.10
R5014:Ildr1	UTSW	16	36,541,921 (GRCm39)	missense	probably damaging	0.98
R5426:Ildr1	UTSW	16	36,529,981 (GRCm39)	missense	probably damaging	1.00
R5957:Ildr1	UTSW	16	36,545,896 (GRCm39)	makesense	probably null
R7058:Ildr1	UTSW	16	36,542,730 (GRCm39)	missense	probably benign	0.01
R7646:Ildr1	UTSW	16	36,542,281 (GRCm39)	missense	possibly damaging	0.78
R8245:Ildr1	UTSW	16	36,529,883 (GRCm39)	missense	probably damaging	1.00
R8392:Ildr1	UTSW	16	36,542,721 (GRCm39)	missense	probably damaging	1.00
R8392:Ildr1	UTSW	16	36,542,720 (GRCm39)	nonsense	probably null
R8748:Ildr1	UTSW	16	36,542,734 (GRCm39)	missense	probably benign	0.18
R8791:Ildr1	UTSW	16	36,528,762 (GRCm39)	missense	probably damaging	0.96
R8854:Ildr1	UTSW	16	36,535,910 (GRCm39)	missense	probably damaging	1.00
R9108:Ildr1	UTSW	16	36,535,919 (GRCm39)	missense	probably benign	0.13
R9252:Ildr1	UTSW	16	36,536,574 (GRCm39)	missense	probably damaging	1.00
R9372:Ildr1	UTSW	16	36,542,721 (GRCm39)	missense	probably damaging	1.00
R9642:Ildr1	UTSW	16	36,536,490 (GRCm39)	missense	probably damaging	1.00
R9681:Ildr1	UTSW	16	36,528,749 (GRCm39)	missense	probably damaging	1.00
R9707:Ildr1	UTSW	16	36,529,892 (GRCm39)	missense	probably damaging	1.00
R9777:Ildr1	UTSW	16	36,528,659 (GRCm39)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- AGACAGGCTTTGGAAACCG -3'
(R):5'- CCAGAAGATCAGGGGAATCC -3'

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

Posted On

2022-05-16