Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01115:Impg2'

52940

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: 0.102) question?

Stock #

IGL01115

Quality Score

Status

Chromosome

Chromosomal Location

56024676-56094119 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 56079803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 536 (P536S)

Ref Sequence

ENSEMBL: ENSMUSP00000063648 (fasta)

Gene Model

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

AlphaFold

Q80XH2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069936
AA Change: P536S

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000063648
Gene: ENSMUSG00000035270
AA Change: P536S

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 benign
Transcript: ENSMUST00000160116
AA Change: P427S

PolyPhen 2 Score 0.410 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125135
Gene: ENSMUSG00000035270
AA Change: P427S

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	T	C	17: 46,621,352 (GRCm39)	T934A	probably benign	Het
Ankzf1	T	C	1: 75,169,259 (GRCm39)	L55P	probably damaging	Het
Aoc1	T	C	6: 48,883,131 (GRCm39)	S336P	probably damaging	Het
Bmper	T	C	9: 23,310,985 (GRCm39)		probably benign	Het
Capza2	A	G	6: 17,654,122 (GRCm39)	N58S	probably damaging	Het
Cdca2	A	G	14: 67,952,146 (GRCm39)	V75A	probably damaging	Het
Chmp7	A	G	14: 69,958,772 (GRCm39)	S181P	probably damaging	Het
Colq	A	G	14: 31,267,085 (GRCm39)		probably benign	Het
Dennd5b	A	G	6: 148,911,246 (GRCm39)		probably benign	Het
Has3	A	G	8: 107,605,320 (GRCm39)	T509A	probably benign	Het
Hsh2d	T	C	8: 72,954,463 (GRCm39)	S282P	probably damaging	Het
Naip1	T	A	13: 100,580,228 (GRCm39)		probably null	Het
Napb	T	C	2: 148,549,089 (GRCm39)	Y111C	probably damaging	Het
Or8w1	T	C	2: 87,465,728 (GRCm39)	D121G	probably damaging	Het
Osmr	A	G	15: 6,876,682 (GRCm39)		probably benign	Het
Pcdh10	A	G	3: 45,347,210 (GRCm39)	T1002A	probably damaging	Het
Plcg2	T	C	8: 118,284,068 (GRCm39)	W122R	probably damaging	Het
Prpf19	C	T	19: 10,877,567 (GRCm39)	T204M	probably damaging	Het
Ptbp1	T	A	10: 79,695,796 (GRCm39)		probably benign	Het
Ptpre	T	A	7: 135,272,493 (GRCm39)	D402E	probably damaging	Het
Siglec1	T	C	2: 130,916,422 (GRCm39)	N1176S	probably benign	Het
Son	A	G	16: 91,456,346 (GRCm39)	T1698A	probably benign	Het
Spata6l	T	C	19: 28,921,842 (GRCm39)		probably null	Het
Speer2	C	T	16: 69,658,539 (GRCm39)	W42*	probably null	Het
Taf5	T	C	19: 47,063,521 (GRCm39)	V357A	probably benign	Het
Tctn1	A	G	5: 122,402,270 (GRCm39)	S55P	probably benign	Het
Tmem115	T	A	9: 107,411,781 (GRCm39)	L35Q	probably damaging	Het
Tmem30c	T	A	16: 57,096,480 (GRCm39)		probably benign	Het
Tmprss7	T	C	16: 45,481,152 (GRCm39)	D678G	probably damaging	Het
Ugt1a7c	A	T	1: 88,022,967 (GRCm39)	Q42L	probably damaging	Het
Unc13b	T	A	4: 43,258,492 (GRCm39)	V4099E	probably damaging	Het
Usp36	G	A	11: 118,176,786 (GRCm39)	L11F	probably damaging	Het
Zfp955a	T	A	17: 33,461,554 (GRCm39)	K193*	probably null	Het
Zranb2	T	C	3: 157,252,328 (GRCm39)		probably benign	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
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
IGL01690:Impg2	APN	16	56,025,568 (GRCm39)	missense	probably damaging	0.97
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

2013-06-21