Mutagenetix > Incidental Mutation

Incidental Mutation 'R1283:Impg2'

151097

Institutional Source

Beutler Lab

Gene Symbol

Impg2

Ensembl Gene

ENSMUSG00000035270

Gene Name

interphotoreceptor matrix proteoglycan 2

Synonyms

IPM200, Spacrcan, PG10.2

MMRRC Submission

039349-MU

Accession Numbers

Essential gene?

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

Stock #

R1283 (G1)

Quality Score

117

Status

Not validated

Chromosome

Chromosomal Location

56024676-56094119 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

TACCACCACCACCACCACCACCACCA to TACCACCACCACCACCACCACCA at 56078302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125135 (fasta)

Gene Model

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

AlphaFold

Q80XH2

Predicted Effect

probably benign
Transcript: ENSMUST00000069936

SMART Domains

Protein: ENSMUSP00000063648
Gene: ENSMUSG00000035270

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

SMART Domains

Protein: ENSMUSP00000125135
Gene: ENSMUSG00000035270

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

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.4%

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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	A	2: 25,336,701 (GRCm39)	I2269N	probably damaging	Het
Ap4b1	T	A	3: 103,726,177 (GRCm39)	V251E	probably damaging	Het
Btn2a2	A	G	13: 23,663,002 (GRCm39)	V316A	probably damaging	Het
Fbxw15	G	A	9: 109,387,314 (GRCm39)	S227F	probably damaging	Het
Fdxacb1	A	G	9: 50,679,994 (GRCm39)	E60G	possibly damaging	Het
Gins3	A	G	8: 96,364,574 (GRCm39)	D108G	probably damaging	Het
Gsdmc2	T	C	15: 63,696,906 (GRCm39)	I422V	probably damaging	Het
Lamb2	A	G	9: 108,359,007 (GRCm39)	N241S	possibly damaging	Het
Mfsd12	T	C	10: 81,197,269 (GRCm39)	V254A	probably benign	Het
Mgst3	A	G	1: 167,205,865 (GRCm39)	V38A	possibly damaging	Het
Myh13	A	T	11: 67,261,747 (GRCm39)	E1890V	probably damaging	Het
Or52n20	A	G	7: 104,320,150 (GRCm39)	I80M	possibly damaging	Het
Rab11fip3	G	T	17: 26,223,528 (GRCm39)	D800E	probably damaging	Het
Scn8a	T	C	15: 100,867,052 (GRCm39)	I286T	possibly damaging	Het
Slc25a44	T	C	3: 88,327,885 (GRCm39)	Y183C	probably damaging	Het
Tmem170b	T	C	13: 41,781,471 (GRCm39)	F39L	possibly damaging	Het
Trpt1	T	A	19: 6,975,696 (GRCm39)	L150*	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGTGAACTTTGAGTGACCACACAGG -3'
(R):5'- GAATGAAGAGTCAAGCTGCTACCCC -3'

Sequencing Primer
(F):5'- ccctatcccctcccccc -3'
(R):5'- CCCTAAAATCTCTGGGAGAGAACTG -3'

Posted On

2014-01-29