Mutagenetix > Incidental Mutation

Incidental Mutation 'R5024:Impg2'

391265

Institutional Source

Beutler Lab

Gene Symbol

Impg2

Ensembl Gene

ENSMUSG00000035270

Gene Name

interphotoreceptor matrix proteoglycan 2

Synonyms

IPM200, Spacrcan, PG10.2

MMRRC Submission

042615-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R5024 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56204313-56273756 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56260100 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 756 (S756T)

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: S756T

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000063648
Gene: ENSMUSG00000035270
AA Change: S756T

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

possibly damaging
Transcript: ENSMUST00000160116
AA Change: S647T

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000125135
Gene: ENSMUSG00000035270
AA Change: S647T

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

Meta Mutation Damage Score

0.0924

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

99% (95/96)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	A	G	5: 129,171,895	N575S	probably damaging	Het
Akap6	C	T	12: 53,142,562	T2253M	probably benign	Het
Arhgef37	A	C	18: 61,506,440	N289K	probably damaging	Het
Armc4	T	C	18: 7,088,555	M1005V	probably benign	Het
Atad2b	A	C	12: 4,937,534	T121P	probably benign	Het
Atp4a	A	C	7: 30,715,864	D303A	possibly damaging	Het
BC005561	A	G	5: 104,522,258	K1549E	possibly damaging	Het
Calu	A	T	6: 29,374,519		probably benign	Het
Ccdc141	A	C	2: 77,054,703	N531K	probably benign	Het
Ccdc146	T	C	5: 21,399,614		probably null	Het
Cd207	G	A	6: 83,674,319	T218I	probably damaging	Het
Cd2ap	A	C	17: 42,805,345		probably null	Het
Clip3	G	A	7: 30,292,219		probably benign	Het
Clstn1	G	A	4: 149,635,294	R432H	possibly damaging	Het
Csmd2	A	G	4: 128,321,348	Y521C	possibly damaging	Het
Dnah8	A	T	17: 30,736,096	E2033V	probably damaging	Het
Eng	T	G	2: 32,673,392	V319G	probably benign	Het
Erp44	C	T	4: 48,241,296	W57*	probably null	Het
Etv1	T	A	12: 38,854,234		probably null	Het
Eva1c	T	C	16: 90,876,193		probably null	Het
Fam196a	A	G	7: 134,918,478	S108P	probably damaging	Het
Fam221b	T	A	4: 43,659,674	N482I	probably damaging	Het
Fam83h	T	C	15: 76,005,142	H202R	probably damaging	Het
Fbxw13	T	C	9: 109,179,335	T449A	probably benign	Het
Fbxw25	A	T	9: 109,663,374		probably null	Het
Frmd3	T	A	4: 74,098,144	S99T	probably benign	Het
Gm5155	A	G	7: 17,910,682	I575V	probably benign	Het
Gm5174	G	T	10: 86,656,587		noncoding transcript	Het
Gm6904	T	C	14: 59,258,483		probably null	Het
Gm815	C	T	19: 26,887,775	Q49*	probably null	Het
H2-DMa	A	T	17: 34,138,487	I245F	possibly damaging	Het
Herc1	A	T	9: 66,470,326	K3458M	possibly damaging	Het
Hirip3	A	G	7: 126,864,489		probably null	Het
Hjurp	A	T	1: 88,275,050	Y71N	possibly damaging	Het
Hmcn1	T	A	1: 150,680,688	E2449V	possibly damaging	Het
Igll1	G	T	16: 16,863,793	H33N	probably benign	Het
Il6	T	C	5: 30,019,514	L184P	probably damaging	Het
Kank4	T	G	4: 98,785,661	D5A	probably damaging	Het
Kcna7	G	A	7: 45,406,591	R77H	probably damaging	Het
Kcns2	A	T	15: 34,839,537	T349S	probably benign	Het
Keap1	A	G	9: 21,237,226	Y162H	probably damaging	Het
Kif9	T	C	9: 110,483,093	F10L	possibly damaging	Het
Klhdc8b	ACACGCACGCACGCACGCACGCACGCACGCACGCACGCAC	ACACGCACGCACGCACGCACGCACGCACGCACGCACGCACGCAC	9: 108,448,985		probably benign	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lpar6	A	G	14: 73,239,369	T257A	probably damaging	Het
Lpin1	A	T	12: 16,554,006	L608Q	probably benign	Het
Lyst	T	C	13: 13,634,404	S220P	probably benign	Het
M1ap	A	G	6: 83,028,358		probably benign	Het
Mbd6	C	T	10: 127,286,441	V173I	probably benign	Het
Myo5b	A	T	18: 74,716,034	T1115S	possibly damaging	Het
Mysm1	C	A	4: 94,951,016	V683F	possibly damaging	Het
Nlrp4g	T	A	9: 124,350,155		noncoding transcript	Het
Olfr1040	G	T	2: 86,146,533	A67E	probably damaging	Het
Olfr1062	C	T	2: 86,423,461	G72S	possibly damaging	Het
Olfr292	A	T	7: 86,694,881	M142L	probably benign	Het
Olfr318	T	A	11: 58,720,950	I33F	probably benign	Het
Otud6b	T	A	4: 14,826,293	Q34L	probably damaging	Het
Parp11	C	T	6: 127,471,636	T72I	probably damaging	Het
Pbx1	T	A	1: 168,183,589	D343V	possibly damaging	Het
Ppp1r12b	G	T	1: 134,955,733	A17E	probably benign	Het
Pramef20	C	A	4: 144,373,308	E296*	probably null	Het
Ranbp9	A	T	13: 43,434,855	I67N	probably damaging	Het
Rasgrp4	A	G	7: 29,148,407	E414G	probably damaging	Het
Rbbp5	A	G	1: 132,490,488	H15R	possibly damaging	Het
Scd2	A	G	19: 44,301,271	Y235C	probably benign	Het
Sdr16c5	C	T	4: 4,010,365	G170S	probably damaging	Het
Sh3bp4	G	T	1: 89,145,595	G722C	probably damaging	Het
Shmt1	A	T	11: 60,797,479		probably benign	Het
Slc12a1	A	G	2: 125,166,137	I206V	probably benign	Het
Slc26a3	A	G	12: 31,453,908	D304G	probably benign	Het
Slc26a7	T	A	4: 14,532,572	D434V	possibly damaging	Het
Slc6a16	G	T	7: 45,259,966	M185I	probably benign	Het
Stat4	A	G	1: 52,082,570	I363V	possibly damaging	Het
Tgfb1i1	G	T	7: 128,248,217	M1I	probably null	Het
Tmem225	T	C	9: 40,149,343	V66A	probably benign	Het
Tmtc4	T	C	14: 122,941,302		probably null	Het
Trpc4	T	A	3: 54,194,796	N38K	probably benign	Het
Ttll12	A	T	15: 83,587,113	Y218N	probably damaging	Het
Ttn	A	T	2: 76,948,425		probably null	Het
Tulp1	A	C	17: 28,351,995	Y178*	probably null	Het
Vmn2r58	A	G	7: 41,864,322	V299A	probably damaging	Het
Washc4	C	A	10: 83,583,336	Q911K	possibly damaging	Het
Wdr3	T	C	3: 100,154,936	D221G	probably benign	Het
Zan	A	T	5: 137,461,893	C1245*	probably null	Het
Zfyve9	A	C	4: 108,691,669	S773A	probably benign	Het

Other mutations in Impg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00542:Impg2	APN	16	56261605	nonsense	probably null
IGL01097:Impg2	APN	16	56260647	critical splice donor site	probably null
IGL01115:Impg2	APN	16	56259440	missense	possibly damaging	0.61
IGL01545:Impg2	APN	16	56225717	splice site	probably benign
IGL01644:Impg2	APN	16	56259870	missense	probably benign	0.04
IGL01690:Impg2	APN	16	56205205	missense	probably damaging	0.97
IGL01781:Impg2	APN	16	56252225	missense	probably benign	0.21
IGL01801:Impg2	APN	16	56236748	missense	probably damaging	0.97
IGL01980:Impg2	APN	16	56221527	missense	probably damaging	0.99
IGL02059:Impg2	APN	16	56259972	missense	probably damaging	1.00
IGL02140:Impg2	APN	16	56259468	missense	probably benign	0.05
IGL02206:Impg2	APN	16	56259597	missense	possibly damaging	0.92
IGL02245:Impg2	APN	16	56269082	missense	probably damaging	0.96
IGL02584:Impg2	APN	16	56265011	missense	probably damaging	1.00
IGL03061:Impg2	APN	16	56268416	missense	probably damaging	1.00
IGL03123:Impg2	APN	16	56267122	missense	probably damaging	1.00
IGL03280:Impg2	APN	16	56268268	nonsense	probably null
R0051:Impg2	UTSW	16	56258048	missense	probably damaging	1.00
R0117:Impg2	UTSW	16	56261642	missense	probably damaging	0.99
R0193:Impg2	UTSW	16	56265049	nonsense	probably null
R0270:Impg2	UTSW	16	56269015	missense	possibly damaging	0.88
R0326:Impg2	UTSW	16	56260485	missense	probably damaging	1.00
R0330:Impg2	UTSW	16	56252264	missense	probably damaging	0.99
R0812:Impg2	UTSW	16	56257939	intron	probably benign
R1074:Impg2	UTSW	16	56265178	splice site	probably benign
R1283:Impg2	UTSW	16	56257939	intron	probably benign
R1618:Impg2	UTSW	16	56259858	missense	probably damaging	0.97
R1708:Impg2	UTSW	16	56265078	missense	probably benign	0.10
R1713:Impg2	UTSW	16	56260526	missense	probably benign	0.25
R1827:Impg2	UTSW	16	56267220	missense	possibly damaging	0.62
R1853:Impg2	UTSW	16	56260277	missense	probably damaging	1.00
R2064:Impg2	UTSW	16	56243630	critical splice donor site	probably null
R2100:Impg2	UTSW	16	56231385	splice site	probably null
R2125:Impg2	UTSW	16	56265064	missense	probably damaging	1.00
R2128:Impg2	UTSW	16	56218379	missense	probably damaging	1.00
R2195:Impg2	UTSW	16	56260134	missense	probably benign	0.39
R2247:Impg2	UTSW	16	56268264	missense	probably damaging	0.97
R2366:Impg2	UTSW	16	56259873	missense	probably benign	0.04
R2411:Impg2	UTSW	16	56252154	missense	probably damaging	1.00
R4193:Impg2	UTSW	16	56268411	missense	probably benign	0.00
R4356:Impg2	UTSW	16	56260164	missense	probably damaging	1.00
R4424:Impg2	UTSW	16	56260025	missense	possibly damaging	0.56
R4575:Impg2	UTSW	16	56261732	missense	probably damaging	1.00
R4766:Impg2	UTSW	16	56257939	intron	probably benign
R5278:Impg2	UTSW	16	56221517	missense	probably benign	0.06
R5383:Impg2	UTSW	16	56243626	missense	probably benign	0.03
R5766:Impg2	UTSW	16	56259820	missense	possibly damaging	0.73
R5909:Impg2	UTSW	16	56258136	missense	probably damaging	0.99
R6525:Impg2	UTSW	16	56205149	missense	probably damaging	1.00
R6684:Impg2	UTSW	16	56259929	missense	probably benign	0.33
R6692:Impg2	UTSW	16	56252333	missense	probably damaging	1.00
R6711:Impg2	UTSW	16	56265086	missense	probably damaging	1.00
R6909:Impg2	UTSW	16	56204584	missense	probably damaging	0.97
R6959:Impg2	UTSW	16	56268330	missense	probably benign	0.01
R7226:Impg2	UTSW	16	56267104	nonsense	probably null
R7456:Impg2	UTSW	16	56259913	missense	probably benign	0.03
R7528:Impg2	UTSW	16	56260380	missense	possibly damaging	0.86
R7532:Impg2	UTSW	16	56267180	missense	probably damaging	0.96
R7601:Impg2	UTSW	16	56260031	missense	probably benign	0.22
R7803:Impg2	UTSW	16	56267150	missense	probably damaging	0.99
R8063:Impg2	UTSW	16	56261456	intron	probably benign
R8251:Impg2	UTSW	16	56259597	missense	possibly damaging	0.92
R8292:Impg2	UTSW	16	56260626	missense	probably damaging	1.00
R8481:Impg2	UTSW	16	56252266	missense	possibly damaging	0.76
R8524:Impg2	UTSW	16	56218394	missense	probably benign	0.03
R8782:Impg2	UTSW	16	56259455	missense	probably damaging	0.99
R8795:Impg2	UTSW	16	56260248	missense	probably benign	0.25
R8901:Impg2	UTSW	16	56252165	missense	probably damaging	1.00
R9243:Impg2	UTSW	16	56231460	missense	probably damaging	1.00
R9352:Impg2	UTSW	16	56252107	missense	probably benign	0.00
R9645:Impg2	UTSW	16	56218404	missense	probably damaging	0.99
X0023:Impg2	UTSW	16	56259876	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- ACATAGATATGGAGATAGGCCCATAC -3'
(R):5'- TCAACCAGAGTCTGTCAGTGC -3'

Sequencing Primer
(F):5'- CATCTTTGTAGAGTCCGCAAC -3'
(R):5'- CAGAGTCTGTCAGTGCTCTCTG -3'

Posted On

2016-06-06