Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01690:Impg2'

104077

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Impg2

Ensembl Gene

ENSMUSG00000035270

Gene Name

interphotoreceptor matrix proteoglycan 2

Synonyms

IPM200, Spacrcan, PG10.2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

IGL01690

Quality Score

Status

Chromosome

Chromosomal Location

56024676-56094119 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56025568 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 67 (R67G)

Ref Sequence

ENSEMBL: ENSMUSP00000125135 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069936] [ENSMUST00000160116]

AlphaFold

Q80XH2

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000069778

Predicted Effect

probably benign
Transcript: ENSMUST00000069936
AA Change: R67G

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000063648
Gene: ENSMUSG00000035270
AA Change: R67G

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	66	74	N/A	INTRINSIC
low complexity region	207	220	N/A	INTRINSIC
SEA	235	345	7.7e-29	SMART
low complexity region	396	407	N/A	INTRINSIC
low complexity region	419	444	N/A	INTRINSIC
SEA	895	1018	2.18e-28	SMART
EGF_like	1016	1054	3.57e1	SMART
EGF_like	1056	1096	3.04e1	SMART
transmembrane domain	1105	1127	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000160116
AA Change: R67G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125135
Gene: ENSMUSG00000035270
AA Change: R67G

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	66	74	N/A	INTRINSIC
low complexity region	207	220	N/A	INTRINSIC
SEA	235	345	7.7e-29	SMART
SEA	786	909	2.18e-28	SMART
EGF_like	907	945	3.57e1	SMART
EGF_like	947	987	3.04e1	SMART
transmembrane domain	996	1018	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds chondroitin sulfate and hyaluronan and is a proteoglycan. The encoded protein plays a role in the organization of the interphotoreceptor matrix and may promote the growth and maintenance of the light-sensitive photoreceptor outer segment. Defects in this gene are a cause of retinitis pigmentosa type 56 and maculopathy, IMPG2-related.[provided by RefSeq, Mar 2011]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429P17Rik	A	G	13: 48,114,446 (GRCm39)		noncoding transcript	Het
Agap2	T	C	10: 126,918,827 (GRCm39)		probably benign	Het
Bicra	G	A	7: 15,721,678 (GRCm39)	T613I	probably benign	Het
Cd163	T	C	6: 124,284,277 (GRCm39)	S150P	possibly damaging	Het
Cfap107	G	A	4: 144,165,098 (GRCm39)	T26M	probably damaging	Het
F830045P16Rik	T	G	2: 129,314,614 (GRCm39)	Q221P	probably damaging	Het
Fam135b	T	A	15: 71,328,784 (GRCm39)	M1172L	probably benign	Het
Fbxo2	G	T	4: 148,249,581 (GRCm39)		probably null	Het
Frem1	C	T	4: 82,877,533 (GRCm39)		probably benign	Het
Galnt17	C	T	5: 131,114,734 (GRCm39)		probably null	Het
Gipc2	A	G	3: 151,833,771 (GRCm39)	I170T	probably damaging	Het
Gm2399	C	T	13: 12,717,417 (GRCm39)		noncoding transcript	Het
Hdac10	T	A	15: 89,010,194 (GRCm39)	M283L	probably benign	Het
Icam5	A	G	9: 20,946,095 (GRCm39)	E309G	possibly damaging	Het
Ift70a1	A	G	2: 75,810,277 (GRCm39)	V602A	probably benign	Het
Igkv3-5	T	A	6: 70,640,865 (GRCm39)	S115R	probably benign	Het
Kansl1l	T	C	1: 66,840,232 (GRCm39)	Y356C	probably damaging	Het
Ly75	T	C	2: 60,168,655 (GRCm39)	D751G	probably damaging	Het
Lyst	A	G	13: 13,917,831 (GRCm39)	D3297G	probably damaging	Het
Mall	A	G	2: 127,571,699 (GRCm39)	F30L	probably benign	Het
Map1b	C	T	13: 99,571,512 (GRCm39)	G403D	probably damaging	Het
Mmp11	T	C	10: 75,762,730 (GRCm39)	Y241C	probably damaging	Het
Niban1	C	A	1: 151,579,555 (GRCm39)	R425S	probably damaging	Het
Or4a72	A	G	2: 89,405,557 (GRCm39)	V171A	probably benign	Het
Pcnt	C	T	10: 76,228,609 (GRCm39)	A1519T	probably damaging	Het
Pcsk2	A	G	2: 143,529,490 (GRCm39)	M96V	probably benign	Het
Piwil4	T	C	9: 14,614,391 (GRCm39)	D124G	probably damaging	Het
Plb1	A	T	5: 32,471,041 (GRCm39)	I538F	probably damaging	Het
Polq	A	G	16: 36,883,200 (GRCm39)	D1788G	probably damaging	Het
Pus7	A	G	5: 23,980,962 (GRCm39)	S134P	probably damaging	Het
Sec61a2	G	A	2: 5,891,363 (GRCm39)	S56L	possibly damaging	Het
Sel1l	G	T	12: 91,810,033 (GRCm39)	D26E	probably benign	Het
Slc25a48	G	A	13: 56,612,758 (GRCm39)		probably benign	Het
Tas2r126	T	C	6: 42,412,241 (GRCm39)	F258S	probably benign	Het
Tnfrsf13b	G	A	11: 61,032,146 (GRCm39)	V59I	possibly damaging	Het
Usp6nl	G	A	2: 6,445,879 (GRCm39)	V619M	probably benign	Het
Vmn1r67	A	G	7: 10,180,767 (GRCm39)	I10M	possibly damaging	Het
Vmn2r71	A	G	7: 85,264,782 (GRCm39)	D38G	probably damaging	Het

Other mutations in Impg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00542:Impg2	APN	16	56,081,968 (GRCm39)	nonsense	probably null
IGL01097:Impg2	APN	16	56,081,010 (GRCm39)	critical splice donor site	probably null
IGL01115:Impg2	APN	16	56,079,803 (GRCm39)	missense	possibly damaging	0.61
IGL01545:Impg2	APN	16	56,046,080 (GRCm39)	splice site	probably benign
IGL01644:Impg2	APN	16	56,080,233 (GRCm39)	missense	probably benign	0.04
IGL01781:Impg2	APN	16	56,072,588 (GRCm39)	missense	probably benign	0.21
IGL01801:Impg2	APN	16	56,057,111 (GRCm39)	missense	probably damaging	0.97
IGL01980:Impg2	APN	16	56,041,890 (GRCm39)	missense	probably damaging	0.99
IGL02059:Impg2	APN	16	56,080,335 (GRCm39)	missense	probably damaging	1.00
IGL02140:Impg2	APN	16	56,079,831 (GRCm39)	missense	probably benign	0.05
IGL02206:Impg2	APN	16	56,079,960 (GRCm39)	missense	possibly damaging	0.92
IGL02245:Impg2	APN	16	56,089,445 (GRCm39)	missense	probably damaging	0.96
IGL02584:Impg2	APN	16	56,085,374 (GRCm39)	missense	probably damaging	1.00
IGL03061:Impg2	APN	16	56,088,779 (GRCm39)	missense	probably damaging	1.00
IGL03123:Impg2	APN	16	56,087,485 (GRCm39)	missense	probably damaging	1.00
IGL03280:Impg2	APN	16	56,088,631 (GRCm39)	nonsense	probably null
R0051:Impg2	UTSW	16	56,078,411 (GRCm39)	missense	probably damaging	1.00
R0117:Impg2	UTSW	16	56,082,005 (GRCm39)	missense	probably damaging	0.99
R0193:Impg2	UTSW	16	56,085,412 (GRCm39)	nonsense	probably null
R0270:Impg2	UTSW	16	56,089,378 (GRCm39)	missense	possibly damaging	0.88
R0326:Impg2	UTSW	16	56,080,848 (GRCm39)	missense	probably damaging	1.00
R0330:Impg2	UTSW	16	56,072,627 (GRCm39)	missense	probably damaging	0.99
R0812:Impg2	UTSW	16	56,078,302 (GRCm39)	intron	probably benign
R1074:Impg2	UTSW	16	56,085,541 (GRCm39)	splice site	probably benign
R1283:Impg2	UTSW	16	56,078,302 (GRCm39)	intron	probably benign
R1618:Impg2	UTSW	16	56,080,221 (GRCm39)	missense	probably damaging	0.97
R1708:Impg2	UTSW	16	56,085,441 (GRCm39)	missense	probably benign	0.10
R1713:Impg2	UTSW	16	56,080,889 (GRCm39)	missense	probably benign	0.25
R1827:Impg2	UTSW	16	56,087,583 (GRCm39)	missense	possibly damaging	0.62
R1853:Impg2	UTSW	16	56,080,640 (GRCm39)	missense	probably damaging	1.00
R2064:Impg2	UTSW	16	56,063,993 (GRCm39)	critical splice donor site	probably null
R2100:Impg2	UTSW	16	56,051,748 (GRCm39)	splice site	probably null
R2125:Impg2	UTSW	16	56,085,427 (GRCm39)	missense	probably damaging	1.00
R2128:Impg2	UTSW	16	56,038,742 (GRCm39)	missense	probably damaging	1.00
R2195:Impg2	UTSW	16	56,080,497 (GRCm39)	missense	probably benign	0.39
R2247:Impg2	UTSW	16	56,088,627 (GRCm39)	missense	probably damaging	0.97
R2366:Impg2	UTSW	16	56,080,236 (GRCm39)	missense	probably benign	0.04
R2411:Impg2	UTSW	16	56,072,517 (GRCm39)	missense	probably damaging	1.00
R4193:Impg2	UTSW	16	56,088,774 (GRCm39)	missense	probably benign	0.00
R4356:Impg2	UTSW	16	56,080,527 (GRCm39)	missense	probably damaging	1.00
R4424:Impg2	UTSW	16	56,080,388 (GRCm39)	missense	possibly damaging	0.56
R4575:Impg2	UTSW	16	56,082,095 (GRCm39)	missense	probably damaging	1.00
R4766:Impg2	UTSW	16	56,078,302 (GRCm39)	intron	probably benign
R5024:Impg2	UTSW	16	56,080,463 (GRCm39)	missense	probably damaging	0.97
R5278:Impg2	UTSW	16	56,041,880 (GRCm39)	missense	probably benign	0.06
R5383:Impg2	UTSW	16	56,063,989 (GRCm39)	missense	probably benign	0.03
R5766:Impg2	UTSW	16	56,080,183 (GRCm39)	missense	possibly damaging	0.73
R5909:Impg2	UTSW	16	56,078,499 (GRCm39)	missense	probably damaging	0.99
R6525:Impg2	UTSW	16	56,025,512 (GRCm39)	missense	probably damaging	1.00
R6684:Impg2	UTSW	16	56,080,292 (GRCm39)	missense	probably benign	0.33
R6692:Impg2	UTSW	16	56,072,696 (GRCm39)	missense	probably damaging	1.00
R6711:Impg2	UTSW	16	56,085,449 (GRCm39)	missense	probably damaging	1.00
R6909:Impg2	UTSW	16	56,024,947 (GRCm39)	missense	probably damaging	0.97
R6959:Impg2	UTSW	16	56,088,693 (GRCm39)	missense	probably benign	0.01
R7226:Impg2	UTSW	16	56,087,467 (GRCm39)	nonsense	probably null
R7456:Impg2	UTSW	16	56,080,276 (GRCm39)	missense	probably benign	0.03
R7528:Impg2	UTSW	16	56,080,743 (GRCm39)	missense	possibly damaging	0.86
R7532:Impg2	UTSW	16	56,087,543 (GRCm39)	missense	probably damaging	0.96
R7601:Impg2	UTSW	16	56,080,394 (GRCm39)	missense	probably benign	0.22
R7803:Impg2	UTSW	16	56,087,513 (GRCm39)	missense	probably damaging	0.99
R8063:Impg2	UTSW	16	56,081,819 (GRCm39)	intron	probably benign
R8251:Impg2	UTSW	16	56,079,960 (GRCm39)	missense	possibly damaging	0.92
R8292:Impg2	UTSW	16	56,080,989 (GRCm39)	missense	probably damaging	1.00
R8481:Impg2	UTSW	16	56,072,629 (GRCm39)	missense	possibly damaging	0.76
R8524:Impg2	UTSW	16	56,038,757 (GRCm39)	missense	probably benign	0.03
R8782:Impg2	UTSW	16	56,079,818 (GRCm39)	missense	probably damaging	0.99
R8795:Impg2	UTSW	16	56,080,611 (GRCm39)	missense	probably benign	0.25
R8901:Impg2	UTSW	16	56,072,528 (GRCm39)	missense	probably damaging	1.00
R9243:Impg2	UTSW	16	56,051,823 (GRCm39)	missense	probably damaging	1.00
R9352:Impg2	UTSW	16	56,072,470 (GRCm39)	missense	probably benign	0.00
R9645:Impg2	UTSW	16	56,038,767 (GRCm39)	missense	probably damaging	0.99
X0023:Impg2	UTSW	16	56,080,239 (GRCm39)	missense	probably benign	0.05

Posted On

2014-01-21