Mutagenetix > Incidental Mutation

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

067673-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8245 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36514340-36547166 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36529883 bp (GRCm39)

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: 142,539,870 (GRCm39)		probably null	Het
Adam4	A	T	12: 81,466,657 (GRCm39)	C655S	probably damaging	Het
Adamts13	A	C	2: 26,880,568 (GRCm39)	D717A	probably damaging	Het
Atf7ip2	A	G	16: 10,019,262 (GRCm39)	N30S	possibly damaging	Het
Bmp8b	T	C	4: 123,008,532 (GRCm39)	V166A	probably benign	Het
Bpifb9a	G	A	2: 154,104,646 (GRCm39)	G261R	probably benign	Het
Cdipt	G	T	7: 126,578,732 (GRCm39)	M174I	probably benign	Het
Cep128	T	C	12: 90,966,419 (GRCm39)	T1063A	probably benign	Het
Ciao1	A	G	2: 127,088,404 (GRCm39)	Y140H	probably damaging	Het
Cngb1	A	G	8: 96,024,408 (GRCm39)	S217P	unknown	Het
Cnot2	T	A	10: 116,346,294 (GRCm39)	I103F	probably benign	Het
Col27a1	T	G	4: 63,144,040 (GRCm39)	V576G	probably damaging	Het
Dapk1	T	A	13: 60,878,710 (GRCm39)	H566Q	probably benign	Het
Dhrs2	T	A	14: 55,478,637 (GRCm39)	C261S	possibly damaging	Het
Ercc4	G	C	16: 12,948,001 (GRCm39)	R406P	probably benign	Het
Fer1l4	A	G	2: 155,886,934 (GRCm39)		probably null	Het
Fhod3	T	A	18: 25,246,673 (GRCm39)	F1293Y	probably damaging	Het
Fsip1	T	A	2: 118,075,359 (GRCm39)	K218M	unknown	Het
Fsip2	G	T	2: 82,811,346 (GRCm39)	S2555I	possibly damaging	Het
Gfpt2	A	G	11: 49,714,785 (GRCm39)	K358E	probably benign	Het
Gm9637	A	T	14: 19,402,598 (GRCm38)	V1D	noncoding transcript	Het
H2-M10.6	T	C	17: 37,124,155 (GRCm39)		probably null	Het
Hand2	A	G	8: 57,774,994 (GRCm39)	Y18C	probably damaging	Het
Helz2	A	T	2: 180,879,895 (GRCm39)	V607E	probably damaging	Het
Hps5	G	A	7: 46,418,485 (GRCm39)	R862*	probably null	Het
Ints12	A	G	3: 132,814,633 (GRCm39)	N280S	probably benign	Het
Ippk	C	T	13: 49,599,818 (GRCm39)	P226S		Het
Itpr2	T	A	6: 146,274,604 (GRCm39)	K859N	probably damaging	Het
Lhx9	G	T	1: 138,766,179 (GRCm39)	A212D	probably benign	Het
Myo6	C	T	9: 80,162,229 (GRCm39)	T322I	unknown	Het
Ndufaf4	A	G	4: 24,898,648 (GRCm39)	D71G	probably benign	Het
Nrp1	T	A	8: 129,214,434 (GRCm39)	S641T	probably benign	Het
Nudt7	A	T	8: 114,863,080 (GRCm39)	N37I	probably damaging	Het
Obscn	T	A	11: 58,913,066 (GRCm39)	I271F		Het
Or2ag16	T	C	7: 106,352,374 (GRCm39)	T74A	probably benign	Het
Or4d2b	G	A	11: 87,780,443 (GRCm39)	S93F	probably damaging	Het
Or6c5b	T	C	10: 129,245,975 (GRCm39)	S247P	probably damaging	Het
Or7g18	T	C	9: 18,787,126 (GRCm39)	Y168H	probably benign	Het
Or9g4b	A	G	2: 85,616,119 (GRCm39)	E88G	probably benign	Het
Oxa1l	T	C	14: 54,605,274 (GRCm39)	S317P	probably damaging	Het
Poglut2	A	T	1: 44,156,226 (GRCm39)	H120Q	probably benign	Het
Polr2a	C	T	11: 69,630,779 (GRCm39)	R1213H	probably damaging	Het
Postn	A	T	3: 54,283,468 (GRCm39)	S516C	probably null	Het
Rabep2	A	G	7: 126,039,580 (GRCm39)	T336A	possibly damaging	Het
Ralgapb	G	A	2: 158,285,256 (GRCm39)	C585Y	probably damaging	Het
Rexo4	A	G	2: 26,850,350 (GRCm39)	S276P	probably damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCTGCGGCGGC	7: 97,229,122 (GRCm39)		probably benign	Het
Sall3	G	A	18: 81,016,969 (GRCm39)	P320S	probably benign	Het
Sipa1l3	A	G	7: 29,099,789 (GRCm39)	L160P	probably damaging	Het
Sphkap	A	G	1: 83,256,492 (GRCm39)	F419S	probably benign	Het
Stag1	C	A	9: 100,811,946 (GRCm39)	T808K	probably benign	Het
Stam2	G	T	2: 52,604,931 (GRCm39)	N201K	possibly damaging	Het
Stat1	G	A	1: 52,194,178 (GRCm39)	R704Q	probably benign	Het
Tacc2	A	G	7: 130,331,303 (GRCm39)	D2236G	probably damaging	Het
Thsd7a	T	A	6: 12,379,592 (GRCm39)	Y944F		Het
Tmem225	G	T	9: 40,061,955 (GRCm39)	V190F	probably damaging	Het
Tonsl	A	T	15: 76,521,022 (GRCm39)	V400D	probably benign	Het
Tpp2	G	A	1: 44,022,712 (GRCm39)	G971D	probably damaging	Het
Trh	C	T	6: 92,220,050 (GRCm39)	V89I	probably benign	Het
Txlnb	A	G	10: 17,717,205 (GRCm39)	D404G	probably damaging	Het
Uggt1	A	G	1: 36,204,645 (GRCm39)	V990A	probably damaging	Het
Vmn1r179	T	A	7: 23,628,396 (GRCm39)	Y196N	possibly damaging	Het
Vmn2r8	T	C	5: 108,945,936 (GRCm39)	D557G	probably damaging	Het
Zfp516	G	T	18: 82,974,458 (GRCm39)	G219C	probably damaging	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
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
R9434:Ildr1	UTSW	16	36,529,862 (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'- AAGGGGCTTGGAGGCTTATC -3'
(R):5'- TGACCAGTTCAGTCATCGAGC -3'

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

Posted On

2020-07-28