Mutagenetix > Incidental Mutation

Incidental Mutation 'R6692:Impg2'

527929

Institutional Source

Beutler Lab

Gene Symbol

Impg2

Ensembl Gene

ENSMUSG00000035270

Gene Name

interphotoreceptor matrix proteoglycan 2

Synonyms

IPM200, Spacrcan, PG10.2

MMRRC Submission

044810-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R6692 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56024676-56094119 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56072696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 376 (L376H)

Ref Sequence

ENSEMBL: ENSMUSP00000063648 (fasta)

Gene Model

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

AlphaFold

Q80XH2

Predicted Effect

probably damaging
Transcript: ENSMUST00000069936
AA Change: L376H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000063648
Gene: ENSMUSG00000035270
AA Change: L376H

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: L376H

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125135
Gene: ENSMUSG00000035270
AA Change: L376H

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: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

100% (38/38)

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
Ahcyl1	C	T	3: 107,582,401 (GRCm39)	G54D	probably damaging	Het
Aldh1b1	T	C	4: 45,803,427 (GRCm39)	C322R	probably damaging	Het
Cdc14b	T	C	13: 64,363,377 (GRCm39)	I258V	probably damaging	Het
Cenph	T	C	13: 100,909,243 (GRCm39)	I55V	probably benign	Het
Cep290	T	A	10: 100,405,006 (GRCm39)		probably null	Het
Ces2b	A	G	8: 105,563,919 (GRCm39)	Y431C	probably damaging	Het
Cyp4f17	T	C	17: 32,725,950 (GRCm39)	S28P	possibly damaging	Het
Cyp4f40	C	G	17: 32,894,716 (GRCm39)	T427S	possibly damaging	Het
Exoc2	A	G	13: 31,119,490 (GRCm39)	I137T	probably benign	Het
Fam168b	C	A	1: 34,875,822 (GRCm39)	G21V	probably damaging	Het
G3bp1	T	A	11: 55,384,335 (GRCm39)	D168E	probably benign	Het
Kdm4d	A	T	9: 14,374,361 (GRCm39)	M499K	probably benign	Het
Lonp1	C	T	17: 56,926,230 (GRCm39)	V426M	probably damaging	Het
Lypla2	C	A	4: 135,698,173 (GRCm39)	A26S	probably benign	Het
Map3k13	T	C	16: 21,723,987 (GRCm39)	V323A	possibly damaging	Het
Mdfic2	T	G	6: 98,225,169 (GRCm39)	H38P	possibly damaging	Het
Mov10	A	G	3: 104,725,360 (GRCm39)	L83P	probably damaging	Het
Mphosph9	G	T	5: 124,398,179 (GRCm39)	A1039D	probably damaging	Het
Nedd1	T	C	10: 92,534,199 (GRCm39)	K317R	possibly damaging	Het
Or10ag55-ps1	A	G	2: 87,139,336 (GRCm39)	T68A	possibly damaging	Het
Pde3a	T	A	6: 141,425,072 (GRCm39)	S623T	probably damaging	Het
Pld1	T	A	3: 28,095,348 (GRCm39)	M227K	probably benign	Het
Rell1	T	G	5: 64,095,210 (GRCm39)	K85N	probably damaging	Het
Rhbdf1	T	C	11: 32,165,652 (GRCm39)	T93A	probably damaging	Het
Sccpdh	T	A	1: 179,511,792 (GRCm39)	M88K	possibly damaging	Het
Siae	T	G	9: 37,554,095 (GRCm39)		probably null	Het
Slc22a16	G	A	10: 40,479,901 (GRCm39)	E637K	unknown	Het
Stk19	C	T	17: 35,043,770 (GRCm39)	G95S	probably benign	Het
Stpg2	G	A	3: 139,228,738 (GRCm39)		probably null	Het
Sult2a5	T	A	7: 13,358,057 (GRCm39)	F30I	probably damaging	Het
Svil	A	G	18: 5,082,853 (GRCm39)	E748G	probably damaging	Het
Swap70	T	A	7: 109,869,126 (GRCm39)	H306Q	probably benign	Het
Try10	G	A	6: 41,334,755 (GRCm39)	G227D	probably damaging	Het
Ttn	T	C	2: 76,726,713 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,749,436 (GRCm39)	H3871L	probably benign	Het
Vmn1r231	T	C	17: 21,110,745 (GRCm39)	I57V	possibly damaging	Het
Vpreb1a	A	G	16: 16,686,666 (GRCm39)	S75P	probably damaging	Het
Zkscan5	A	G	5: 145,157,894 (GRCm39)		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
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
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'- ACTATGCAGTTACCTTCAATGGC -3'
(R):5'- TGCTCTGTGACCTTCTATGGAG -3'

Sequencing Primer
(F):5'- GCAATACCACCTGGGACCTCATAAG -3'
(R):5'- GCTCTGTGACCTTCTATGGAGAATAC -3'

Posted On

2018-07-23