Mutagenetix > Incidental Mutation

Incidental Mutation 'R9372:Ildr1'

709409

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 #

R9372 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36514340-36547166 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36542721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 418 (D418N)

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: D418N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023617
Gene: ENSMUSG00000022900
AA Change: D418N

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: D374N

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

SMART Domains

Protein: ENSMUSP00000087045
Gene: ENSMUSG00000022900
AA Change: D374N

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: D418N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112539
Gene: ENSMUSG00000022900
AA Change: D418N

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

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
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Aass	T	C	6: 23,078,856 (GRCm39)	T719A	probably damaging	Het
Abcb8	A	G	5: 24,605,114 (GRCm39)	E100G	probably benign	Het
Actr1b	C	T	1: 36,741,561 (GRCm39)	E104K	probably damaging	Het
Atad5	T	A	11: 79,985,094 (GRCm39)	S60R	possibly damaging	Het
Bcan	G	T	3: 87,895,610 (GRCm39)	A842D	probably benign	Het
Cacna2d2	G	A	9: 107,394,802 (GRCm39)	E623K	probably benign	Het
Cdk15	T	C	1: 59,370,142 (GRCm39)	Y393H	probably benign	Het
Ceacam12	C	T	7: 17,803,229 (GRCm39)	R212C	probably benign	Het
Ceacam5	T	C	7: 17,481,267 (GRCm39)	I338T	possibly damaging	Het
Crcp	A	G	5: 130,088,664 (GRCm39)	D139G	possibly damaging	Het
Crls1	T	A	2: 132,707,802 (GRCm39)	Y290*	probably null	Het
Dcun1d5	A	G	9: 7,206,780 (GRCm39)	N206D	probably damaging	Het
Dmtf1	A	T	5: 9,190,399 (GRCm39)	V105E	possibly damaging	Het
Dnah7a	T	C	1: 53,543,474 (GRCm39)	Y2232C	probably benign	Het
Dnajc25	T	A	4: 59,003,394 (GRCm39)	V55E	probably damaging	Het
Dpy19l4	T	C	4: 11,303,343 (GRCm39)	M193V	possibly damaging	Het
Dsc1	A	T	18: 20,221,489 (GRCm39)	V662E	probably damaging	Het
Enpp6	G	A	8: 47,506,627 (GRCm39)	V144I	possibly damaging	Het
Fip1l1	A	G	5: 74,707,463 (GRCm39)	T204A	possibly damaging	Het
Flvcr2	T	C	12: 85,793,795 (GRCm39)	V57A	probably benign	Het
Fsip2	T	G	2: 82,822,756 (GRCm39)	I6163S	possibly damaging	Het
Gipr	T	A	7: 18,896,863 (GRCm39)	M136L	probably benign	Het
Gm7298	A	G	6: 121,748,746 (GRCm39)	I674V	probably benign	Het
Gtf2a1	C	T	12: 91,534,592 (GRCm39)	V221I	probably damaging	Het
Haus3	A	T	5: 34,321,002 (GRCm39)	D481E	probably benign	Het
Hinfp	A	C	9: 44,209,083 (GRCm39)	V345G	probably damaging	Het
Hs3st5	A	T	10: 36,708,698 (GRCm39)	K78*	probably null	Het
Ighv1-31	T	C	12: 114,792,894 (GRCm39)	Y114C	probably damaging	Het
Ighv5-15	T	A	12: 113,790,357 (GRCm39)	T88S	probably damaging	Het
Ints10	C	T	8: 69,271,967 (GRCm39)	T556I	probably damaging	Het
Isoc1	G	T	18: 58,792,757 (GRCm39)	R65L	possibly damaging	Het
Itm2c	C	T	1: 85,833,055 (GRCm39)	R130C	probably damaging	Het
Jup	C	T	11: 100,270,391 (GRCm39)	C372Y	probably damaging	Het
Kif11	T	C	19: 37,399,892 (GRCm39)	V793A	probably benign	Het
Klrg1	A	C	6: 122,256,699 (GRCm39)	V29G	probably benign	Het
Lrch4	A	G	5: 137,631,953 (GRCm39)	T114A	possibly damaging	Het
Map3k3	C	T	11: 106,033,335 (GRCm39)	T196M	probably damaging	Het
Marchf1	C	A	8: 66,921,145 (GRCm39)	T274N	probably benign	Het
Nxpe5	A	T	5: 138,249,445 (GRCm39)	T412S	probably benign	Het
Or10q1	C	T	19: 13,727,069 (GRCm39)	H200Y	probably benign	Het
Pcnt	A	G	10: 76,258,960 (GRCm39)	W502R	probably damaging	Het
Pfdn5	T	C	15: 102,235,286 (GRCm39)		probably null	Het
Pkn2	A	T	3: 142,535,018 (GRCm39)	V232E	probably damaging	Het
Ppfibp1	T	C	6: 146,898,307 (GRCm39)	S88P	probably damaging	Het
Prr23a4	A	G	9: 98,785,478 (GRCm39)	I48V	probably benign	Het
Ptprz1	G	A	6: 23,045,706 (GRCm39)	E2159K	probably damaging	Het
Smyd3	T	C	1: 178,871,470 (GRCm39)	E303G	possibly damaging	Het
Snx13	T	A	12: 35,151,048 (GRCm39)	N336K	possibly damaging	Het
Src	A	G	2: 157,311,808 (GRCm39)	E512G	possibly damaging	Het
Stard9	T	A	2: 120,495,420 (GRCm39)	C98*	probably null	Het
Tapbpl	A	G	6: 125,203,672 (GRCm39)	V336A	probably benign	Het
Tbrg1	G	A	9: 37,563,945 (GRCm39)	T230I	probably damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmem132c	G	A	5: 127,640,145 (GRCm39)	G772D	probably damaging	Het
Tmem219	C	T	7: 126,496,017 (GRCm39)	G119S	possibly damaging	Het
Ttbk2	T	A	2: 120,603,766 (GRCm39)	S325C	probably benign	Het
Ttc28	A	T	5: 111,331,073 (GRCm39)	Y431F	probably benign	Het
Vmn1r27	A	T	6: 58,192,746 (GRCm39)	M86K	possibly damaging	Het
Vmn2r15	G	A	5: 109,441,953 (GRCm39)	P160L	possibly damaging	Het
Zfc3h1	A	T	10: 115,221,223 (GRCm39)	S41C	unknown	Het
Zfp260	C	A	7: 29,804,232 (GRCm39)	T44K	probably benign	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,774,800 (GRCm39)		probably benign	Het
Zfp760	A	G	17: 21,941,035 (GRCm39)	N70S	probably benign	Het
Zfp788	T	A	7: 41,299,708 (GRCm39)	Y781*	probably null	Het
Zfp800	A	T	6: 28,256,433 (GRCm39)	S52T	possibly 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
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
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'- ACACTGCGATCTGAGTGAGC -3'
(R):5'- CCAGTTTGGAGACTGTGAGC -3'

Sequencing Primer
(F):5'- ATCTGAGTGAGCGCCCGAG -3'
(R):5'- ATGGTGACGTCGCTGGGC -3'

Posted On

2022-04-18