Mutagenetix > Incidental Mutation

Incidental Mutation 'R8524:Impg2'

658733

Institutional Source

Beutler Lab

Gene Symbol

Impg2

Ensembl Gene

ENSMUSG00000035270

Gene Name

interphotoreceptor matrix proteoglycan 2

Synonyms

IPM200, Spacrcan, PG10.2

MMRRC Submission

067949-MU

Accession Numbers

Essential gene?

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

Stock #

R8524 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56024676-56094119 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56038757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 132 (N132D)

Ref Sequence

ENSEMBL: ENSMUSP00000125135 (fasta)

Gene Model

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

AlphaFold

Q80XH2

Predicted Effect

probably benign
Transcript: ENSMUST00000069936
AA Change: N132D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000063648
Gene: ENSMUSG00000035270
AA Change: N132D

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: N132D

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000125135
Gene: ENSMUSG00000035270
AA Change: N132D

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (41/41)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccdc65	A	T	15: 98,606,990 (GRCm39)	T66S	probably benign	Het
Cers1	G	A	8: 70,783,898 (GRCm39)	G282D	probably damaging	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Col25a1	C	A	3: 130,342,873 (GRCm39)	P350H	probably damaging	Het
Coq5	T	C	5: 115,422,612 (GRCm39)	I172T	probably damaging	Het
Dand5	A	T	8: 85,549,056 (GRCm39)	L85*	probably null	Het
Dnah8	T	A	17: 30,934,472 (GRCm39)	W1486R	possibly damaging	Het
Dpp8	T	C	9: 64,950,989 (GRCm39)	Y142H	probably damaging	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gng7	T	A	10: 80,787,537 (GRCm39)	H42L	possibly damaging	Het
Gps2	T	C	11: 69,805,832 (GRCm39)	V93A	probably damaging	Het
Hspa9	T	C	18: 35,087,297 (GRCm39)	S3G	unknown	Het
Jak2	A	T	19: 29,273,105 (GRCm39)	N643I	probably damaging	Het
Kcng2	T	C	18: 80,338,896 (GRCm39)	D464G	probably benign	Het
Kdm4b	T	A	17: 56,706,384 (GRCm39)	C833S	probably damaging	Het
Ly86	G	A	13: 37,560,869 (GRCm39)	D77N	probably damaging	Het
Map7	G	A	10: 20,142,569 (GRCm39)	A330T	probably benign	Het
Mettl1	T	C	10: 126,877,908 (GRCm39)	S21P	probably damaging	Het
Mga	A	G	2: 119,771,997 (GRCm39)	Y1540C	probably damaging	Het
Mpp4	A	G	1: 59,183,840 (GRCm39)	L300P	probably damaging	Het
Mycbp2	A	G	14: 103,392,895 (GRCm39)	M3222T	probably benign	Het
Nat8f6	A	G	6: 85,785,541 (GRCm39)	Y203H	probably benign	Het
Nod1	C	T	6: 54,925,060 (GRCm39)	E84K	probably damaging	Het
Or10v9	A	G	19: 11,832,445 (GRCm39)	Y291H	probably damaging	Het
Or2b28	T	C	13: 21,531,248 (GRCm39)	V50A	probably benign	Het
Or8k28	T	C	2: 86,285,961 (GRCm39)	Y218C	probably damaging	Het
Padi2	A	G	4: 140,677,006 (GRCm39)	N598S	possibly damaging	Het
Pclo	C	T	5: 14,729,521 (GRCm39)		probably benign	Het
Pdik1l	T	G	4: 134,013,921 (GRCm39)	E12D	probably benign	Het
Plcg1	G	A	2: 160,603,387 (GRCm39)		probably null	Het
Rasgrf1	A	G	9: 89,797,638 (GRCm39)	H172R	possibly damaging	Het
Rnf41	C	G	10: 128,271,299 (GRCm39)	R70G	possibly damaging	Het
Rsbn1	A	T	3: 103,835,687 (GRCm39)	K203*	probably null	Het
Setbp1	T	C	18: 78,901,969 (GRCm39)	D566G	probably damaging	Het
Slc7a14	A	C	3: 31,278,282 (GRCm39)	V441G	possibly damaging	Het
Sorl1	T	A	9: 41,885,370 (GRCm39)	N2077I	probably damaging	Het
Spryd3	G	A	15: 102,026,583 (GRCm39)	R363*	probably null	Het
St6galnac1	G	T	11: 116,658,547 (GRCm39)	R306S	possibly damaging	Het
Tmem245	T	C	4: 56,906,261 (GRCm39)	Q548R	probably benign	Het
Trim35	C	T	14: 66,544,493 (GRCm39)	R276C	probably damaging	Het
Trim55	A	T	3: 19,725,113 (GRCm39)	D210V	probably benign	Het
Tsg101	A	T	7: 46,542,115 (GRCm39)	D279E	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
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
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
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'- TCTCATGACCCTGCAGAAAGG -3'
(R):5'- TAAGCTATTCCCCAGGGCAG -3'

Sequencing Primer
(F):5'- CCCTGCAGAAAGGATAGTGTGATC -3'
(R):5'- GCCCACTCAGATCCTAACCTTCG -3'

Posted On

2021-01-18