Mutagenetix > Incidental Mutation

Incidental Mutation 'R0201:Impg1'

23648

Institutional Source

Beutler Lab

Gene Symbol

Impg1

Ensembl Gene

ENSMUSG00000032343

Gene Name

interphotoreceptor matrix proteoglycan 1

Synonyms

IMP150, SPACR, A930015H12Rik

MMRRC Submission

038458-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R0201 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80313330-80465481 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80345561 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 369 (S369T)

Ref Sequence

ENSEMBL: ENSMUSP00000082395 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085289] [ENSMUST00000113250]

AlphaFold

Q8R1W8

Predicted Effect

probably damaging
Transcript: ENSMUST00000085289
AA Change: S369T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000082395
Gene: ENSMUSG00000032343
AA Change: S369T

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
SEA	158	273	8.68e-1	SMART
low complexity region	353	374	N/A	INTRINSIC
SEA	494	616	1.37e-11	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113250
AA Change: S446T

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000108876
Gene: ENSMUSG00000032343
AA Change: S446T

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
SEA	235	350	8.68e-1	SMART
low complexity region	430	451	N/A	INTRINSIC
SEA	571	693	1.37e-11	SMART

Meta Mutation Damage Score

0.1220

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.2%

Validation Efficiency

97% (91/94)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a major component of the retinal interphotoreceptor matrix. The encoded protein is a proteoglycan that is thought to play a role in maintaining viability of photoreceptor cells and in adhesion of the neural retina to the retinal pigment epithelium. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	G	14: 68,581,957 (GRCm38)		probably null	Het
Adamts16	T	A	13: 70,779,644 (GRCm38)	Q492L	possibly damaging	Het
Aplnr	A	G	2: 85,137,177 (GRCm38)	D182G	probably damaging	Het
Arnt2	G	T	7: 84,361,659 (GRCm38)	S3*	probably null	Het
Asxl3	T	C	18: 22,523,154 (GRCm38)	V1407A	probably benign	Het
Atg13	A	T	2: 91,684,762 (GRCm38)		probably null	Het
Atm	A	T	9: 53,454,279 (GRCm38)		probably benign	Het
Birc6	T	G	17: 74,609,327 (GRCm38)	V1746G	possibly damaging	Het
Cbln1	G	T	8: 87,472,113 (GRCm38)	T43K	probably benign	Het
Cbx5	T	C	15: 103,199,700 (GRCm38)	T173A	probably damaging	Het
Cc2d2a	A	G	5: 43,737,512 (GRCm38)	Y1437C	probably damaging	Het
Ccdc78	C	A	17: 25,789,236 (GRCm38)		probably benign	Het
Cd2bp2	A	G	7: 127,193,828 (GRCm38)	Y341H	probably damaging	Het
Cdhr5	T	A	7: 141,276,378 (GRCm38)	D88V	probably damaging	Het
Ces1f	T	A	8: 93,267,329 (GRCm38)	T275S	probably null	Het
Clca4a	T	C	3: 144,960,717 (GRCm38)	N458S	probably benign	Het
Cog5	A	G	12: 31,839,841 (GRCm38)	K521R	probably damaging	Het
Csf2ra	T	A	19: 61,225,568 (GRCm38)	T305S	probably benign	Het
Csmd3	T	A	15: 47,619,729 (GRCm38)		probably benign	Het
Cts6	T	A	13: 61,201,499 (GRCm38)	R132*	probably null	Het
D5Ertd579e	G	T	5: 36,616,465 (GRCm38)	N195K	probably damaging	Het
Ddx1	A	G	12: 13,223,808 (GRCm38)	V606A	probably damaging	Het
Dip2b	G	A	15: 100,186,147 (GRCm38)	D884N	probably damaging	Het
Ehhadh	A	G	16: 21,773,493 (GRCm38)		probably null	Het
Enpp1	T	A	10: 24,653,917 (GRCm38)	T608S	probably benign	Het
Fancm	T	C	12: 65,101,632 (GRCm38)	Y674H	probably damaging	Het
Fat4	T	A	3: 38,891,596 (GRCm38)	V1546D	probably damaging	Het
Fsd1	G	A	17: 55,990,522 (GRCm38)	A158T	probably benign	Het
Fzd2	T	A	11: 102,606,122 (GRCm38)	M464K	probably damaging	Het
Gjc2	A	G	11: 59,177,590 (GRCm38)	F22S	possibly damaging	Het
Gm13101	T	C	4: 143,964,890 (GRCm38)	E421G	probably damaging	Het
Gria2	T	C	3: 80,707,838 (GRCm38)	Y445C	probably damaging	Het
Hsdl1	T	A	8: 119,566,256 (GRCm38)	I147F	possibly damaging	Het
Ifi44	T	C	3: 151,745,636 (GRCm38)	Y226C	probably damaging	Het
Il16	A	G	7: 83,722,308 (GRCm38)	C97R	probably damaging	Het
Jmjd1c	A	G	10: 67,219,109 (GRCm38)	T390A	unknown	Het
Lgi1	A	G	19: 38,301,293 (GRCm38)	E269G	possibly damaging	Het
Lrp6	G	T	6: 134,450,897 (GRCm38)	Y1577*	probably null	Het
Lrrc74a	G	T	12: 86,761,773 (GRCm38)		probably benign	Het
Man1c1	A	T	4: 134,640,398 (GRCm38)		probably null	Het
Map1lc3b	A	C	8: 121,590,550 (GRCm38)	Q9P	possibly damaging	Het
Mboat1	G	A	13: 30,202,375 (GRCm38)	R124H	probably benign	Het
Mcu	A	G	10: 59,456,677 (GRCm38)	L60P	probably damaging	Het
Mrs2	G	T	13: 25,018,534 (GRCm38)	Q75K	probably benign	Het
Muc2	CGTG	CGTGTG	7: 141,699,185 (GRCm38)		probably null	Het
Neb	G	A	2: 52,206,878 (GRCm38)		probably benign	Het
Nlrp2	C	T	7: 5,328,329 (GRCm38)	G356D	probably benign	Het
Notch3	A	G	17: 32,156,148 (GRCm38)		probably benign	Het
Npr2	A	C	4: 43,641,617 (GRCm38)	S474R	probably damaging	Het
Nupl1	A	G	14: 60,244,616 (GRCm38)	F100L	probably benign	Het
Osbpl6	A	C	2: 76,546,042 (GRCm38)	D87A	possibly damaging	Het
Pabpc2	A	T	18: 39,775,307 (GRCm38)	M542L	probably benign	Het
Papln	A	G	12: 83,783,027 (GRCm38)		probably benign	Het
Parpbp	T	C	10: 88,092,896 (GRCm38)	I561V	possibly damaging	Het
Pcdhb13	C	T	18: 37,442,581 (GRCm38)	A4V	probably benign	Het
Pelp1	T	C	11: 70,395,704 (GRCm38)	T533A	possibly damaging	Het
Poldip3	T	A	15: 83,135,296 (GRCm38)	M182L	probably benign	Het
Por	T	C	5: 135,731,178 (GRCm38)	S240P	possibly damaging	Het
Pramef20	A	T	4: 144,377,273 (GRCm38)		probably benign	Het
Prss22	A	T	17: 23,996,301 (GRCm38)	V167D	probably damaging	Het
Prss37	A	C	6: 40,516,349 (GRCm38)	L61R	probably damaging	Het
Psmd1	C	T	1: 86,118,616 (GRCm38)	T702M	probably benign	Het
Pxdn	G	T	12: 30,002,431 (GRCm38)	G869V	possibly damaging	Het
Rabgap1l	A	G	1: 160,453,745 (GRCm38)		probably benign	Het
Rapgef6	T	C	11: 54,619,941 (GRCm38)	V228A	probably damaging	Het
Rnf169	T	C	7: 99,926,003 (GRCm38)	R462G	possibly damaging	Het
Rnft2	A	G	5: 118,194,680 (GRCm38)		probably benign	Het
Sgo2b	T	C	8: 63,926,636 (GRCm38)	D1054G	probably benign	Het
Sh3bgr	T	C	16: 96,228,517 (GRCm38)		probably benign	Het
Slc12a4	A	G	8: 105,945,350 (GRCm38)	V910A	possibly damaging	Het
Slc6a12	A	T	6: 121,355,372 (GRCm38)	I222F	probably benign	Het
Spty2d1	G	A	7: 46,997,901 (GRCm38)	R427*	probably null	Het
Ssc5d	A	G	7: 4,944,663 (GRCm38)	T1339A	probably benign	Het
Sspo	A	C	6: 48,455,752 (GRCm38)	E854A	possibly damaging	Het
Stx7	A	G	10: 24,185,079 (GRCm38)		probably benign	Het
Styk1	A	T	6: 131,301,730 (GRCm38)		probably benign	Het
Tex33	T	A	15: 78,378,828 (GRCm38)	M209L	probably damaging	Het
Tmem163	T	G	1: 127,668,637 (GRCm38)		probably benign	Het
Tmppe	C	CT	9: 114,404,639 (GRCm38)		probably null	Het
Tmx2	A	G	2: 84,673,082 (GRCm38)	V229A	probably benign	Het
Top2b	T	C	14: 16,383,174 (GRCm38)	L54P	probably damaging	Het
Trim62	A	T	4: 128,902,550 (GRCm38)	Y280F	probably benign	Het
Tssk4	A	T	14: 55,651,559 (GRCm38)	K181*	probably null	Het
Tssk4	A	T	14: 55,651,560 (GRCm38)	K181M	probably damaging	Het
Ubn1	A	G	16: 5,064,614 (GRCm38)	D313G	probably damaging	Het
Ugt1a10	C	T	1: 88,215,123 (GRCm38)	P113L	probably damaging	Het
Ugt1a10	C	T	1: 88,218,249 (GRCm38)	P473L	probably damaging	Het

Other mutations in Impg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01329:Impg1	APN	9	80,322,829 (GRCm38)	missense	probably benign	0.02
IGL01733:Impg1	APN	9	80,341,924 (GRCm38)	missense	probably damaging	0.99
IGL02333:Impg1	APN	9	80,440,755 (GRCm38)	missense	possibly damaging	0.74
IGL03097:Impg1	UTSW	9	80,379,952 (GRCm38)	missense	possibly damaging	0.48
R0021:Impg1	UTSW	9	80,435,426 (GRCm38)	missense	probably damaging	1.00
R0029:Impg1	UTSW	9	80,398,371 (GRCm38)	missense	probably damaging	1.00
R0029:Impg1	UTSW	9	80,398,371 (GRCm38)	missense	probably damaging	1.00
R0108:Impg1	UTSW	9	80,322,848 (GRCm38)	missense	possibly damaging	0.63
R0271:Impg1	UTSW	9	80,386,879 (GRCm38)	splice site	probably benign
R0316:Impg1	UTSW	9	80,342,065 (GRCm38)	missense	probably damaging	1.00
R0492:Impg1	UTSW	9	80,345,308 (GRCm38)	missense	possibly damaging	0.74
R0633:Impg1	UTSW	9	80,394,155 (GRCm38)	missense	possibly damaging	0.72
R0705:Impg1	UTSW	9	80,379,979 (GRCm38)	missense	probably damaging	1.00
R0962:Impg1	UTSW	9	80,381,741 (GRCm38)	missense	probably benign	0.23
R1264:Impg1	UTSW	9	80,314,393 (GRCm38)	missense	probably benign	0.31
R1707:Impg1	UTSW	9	80,378,517 (GRCm38)	splice site	probably null
R2017:Impg1	UTSW	9	80,440,667 (GRCm38)	missense	probably damaging	1.00
R3904:Impg1	UTSW	9	80,345,585 (GRCm38)	missense	possibly damaging	0.76
R3960:Impg1	UTSW	9	80,440,864 (GRCm38)	missense	probably benign	0.00
R4231:Impg1	UTSW	9	80,345,329 (GRCm38)	missense	probably damaging	1.00
R4233:Impg1	UTSW	9	80,345,329 (GRCm38)	missense	probably damaging	1.00
R4235:Impg1	UTSW	9	80,345,329 (GRCm38)	missense	probably damaging	1.00
R4236:Impg1	UTSW	9	80,345,329 (GRCm38)	missense	probably damaging	1.00
R4490:Impg1	UTSW	9	80,394,059 (GRCm38)	missense	probably damaging	1.00
R4592:Impg1	UTSW	9	80,440,854 (GRCm38)	missense	probably benign	0.05
R4701:Impg1	UTSW	9	80,314,400 (GRCm38)	missense	probably benign	0.07
R4785:Impg1	UTSW	9	80,398,450 (GRCm38)	missense	probably benign	0.01
R4796:Impg1	UTSW	9	80,394,095 (GRCm38)	missense	probably damaging	0.99
R4923:Impg1	UTSW	9	80,345,545 (GRCm38)	missense	probably damaging	0.98
R4923:Impg1	UTSW	9	80,345,078 (GRCm38)	nonsense	probably null
R5468:Impg1	UTSW	9	80,465,265 (GRCm38)	missense	probably benign	0.05
R5596:Impg1	UTSW	9	80,345,218 (GRCm38)	missense	probably benign	0.24
R6001:Impg1	UTSW	9	80,316,172 (GRCm38)	missense	probably benign	0.12
R6156:Impg1	UTSW	9	80,322,824 (GRCm38)	missense	probably damaging	1.00
R6315:Impg1	UTSW	9	80,394,074 (GRCm38)	missense	probably benign	0.21
R6419:Impg1	UTSW	9	80,380,018 (GRCm38)	missense	probably benign	0.38
R6880:Impg1	UTSW	9	80,404,800 (GRCm38)	missense	probably damaging	1.00
R7013:Impg1	UTSW	9	80,378,494 (GRCm38)	missense	probably damaging	1.00
R8542:Impg1	UTSW	9	80,404,798 (GRCm38)	missense	probably damaging	1.00
R9018:Impg1	UTSW	9	80,394,192 (GRCm38)	missense	probably benign	0.19
R9034:Impg1	UTSW	9	80,465,298 (GRCm38)	start gained	probably benign
R9174:Impg1	UTSW	9	80,345,468 (GRCm38)	missense	probably damaging	0.99
R9242:Impg1	UTSW	9	80,381,782 (GRCm38)	missense	probably damaging	1.00
R9344:Impg1	UTSW	9	80,404,758 (GRCm38)	missense	probably benign	0.39
R9380:Impg1	UTSW	9	80,381,795 (GRCm38)	missense	probably benign	0.34
R9584:Impg1	UTSW	9	80,440,796 (GRCm38)	missense	probably benign	0.14
R9594:Impg1	UTSW	9	80,381,641 (GRCm38)	missense	probably damaging	1.00
R9632:Impg1	UTSW	9	80,379,994 (GRCm38)	missense	probably benign	0.24
R9710:Impg1	UTSW	9	80,379,994 (GRCm38)	missense	probably benign	0.24
Z1176:Impg1	UTSW	9	80,378,467 (GRCm38)	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- GCTTCAAATGCTCATCTCCTCCTACC -3'
(R):5'- TCCTTTTCATCTATGTTAACTACCCTAGCCT -3'

Sequencing Primer
(F):5'- GGCTTGATACTCCAGAGAACTCTTG -3'
(R):5'- CTCGTTTGGGTGGAAATAATTGG -3'

Posted On

2013-04-16