Mutagenetix > Incidental Mutation

Incidental Mutation 'R4923:Impg1'

378792

Institutional Source

Beutler Lab

Gene Symbol

Impg1

Ensembl Gene

ENSMUSG00000032343

Gene Name

interphotoreceptor matrix proteoglycan 1

Synonyms

SPACR, A930015H12Rik, IMP150

MMRRC Submission

042525-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R4923 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80220612-80347534 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80252827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 374 (E374V)

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: E374V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000082395
Gene: ENSMUSG00000032343
AA Change: E374V

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: E451V

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108876
Gene: ENSMUSG00000032343
AA Change: E451V

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

0.1282

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.3%

Validation Efficiency

98% (107/109)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aim2	A	G	1: 173,287,372 (GRCm39)	D124G	probably benign	Het
Akr1c6	T	C	13: 4,504,494 (GRCm39)	M293T	probably damaging	Het
Albfm1	A	G	5: 90,709,158 (GRCm39)	T23A	probably benign	Het
Ankhd1	A	G	18: 36,722,505 (GRCm39)	T343A	probably damaging	Het
Ano2	T	C	6: 125,880,018 (GRCm39)		probably benign	Het
Arfgap2	G	A	2: 91,104,004 (GRCm39)	G353R	probably damaging	Het
Armc3	A	G	2: 19,297,791 (GRCm39)		probably null	Het
Atp11b	T	C	3: 35,889,528 (GRCm39)		probably null	Het
Brd4	A	G	17: 32,418,214 (GRCm39)	M13T	probably benign	Het
Btd	T	A	14: 31,384,044 (GRCm39)	M10K	possibly damaging	Het
C1s2	T	C	6: 124,602,649 (GRCm39)	K515E	probably benign	Het
Cars1	A	T	7: 143,123,587 (GRCm39)	Y455N	probably damaging	Het
Ccdc110	A	G	8: 46,396,460 (GRCm39)	S784G	probably benign	Het
Chic2	A	G	5: 75,171,872 (GRCm39)		probably benign	Het
Chka	A	T	19: 3,942,105 (GRCm39)		probably null	Het
Chrne	A	G	11: 70,506,101 (GRCm39)	I420T	possibly damaging	Het
Clstn1	T	C	4: 149,729,486 (GRCm39)	V747A	probably benign	Het
Cobll1	A	G	2: 64,929,602 (GRCm39)	S575P	possibly damaging	Het
Col6a6	A	T	9: 105,666,147 (GRCm39)	L3Q	probably damaging	Het
Comtd1	A	T	14: 21,898,813 (GRCm39)		probably benign	Het
Cpsf2	T	C	12: 101,948,243 (GRCm39)	V13A	probably benign	Het
Creb3l4	T	A	3: 90,149,521 (GRCm39)	I115L	probably benign	Het
Cyp2j12	C	T	4: 95,990,346 (GRCm39)	A407T	possibly damaging	Het
Ddr2	A	G	1: 169,825,498 (GRCm39)		probably null	Het
Dennd4c	T	C	4: 86,725,775 (GRCm39)	L743P	probably damaging	Het
Egfl8	T	C	17: 34,833,171 (GRCm39)	T192A	probably benign	Het
Elapor1	C	T	3: 108,379,284 (GRCm39)		probably null	Het
Elf3	A	G	1: 135,184,473 (GRCm39)		probably benign	Het
Entrep2	A	G	7: 64,417,439 (GRCm39)	S322P	probably benign	Het
Etv3	T	G	3: 87,443,223 (GRCm39)	L269R	possibly damaging	Het
Fah	C	A	7: 84,251,260 (GRCm39)		probably benign	Het
Fbll1	C	A	11: 35,688,407 (GRCm39)	L285F	probably benign	Het
Fcrla	A	T	1: 170,748,682 (GRCm39)	F154I	probably damaging	Het
Fnip2	T	A	3: 79,396,701 (GRCm39)		probably null	Het
Focad	T	C	4: 88,115,083 (GRCm39)		probably benign	Het
Gabrr1	T	A	4: 33,162,820 (GRCm39)	I462N	possibly damaging	Het
Gm57859	C	A	11: 113,579,805 (GRCm39)	T400K	probably benign	Het
Gnptab	A	G	10: 88,265,485 (GRCm39)	T366A	probably benign	Het
Hnrnpu	G	A	1: 178,159,017 (GRCm39)		probably benign	Het
Il17ra	T	A	6: 120,454,406 (GRCm39)	V299E	possibly damaging	Het
Itgax	C	T	7: 127,747,700 (GRCm39)	L1039F	probably benign	Het
Kcnk2	A	T	1: 189,072,133 (GRCm39)	V65D	probably damaging	Het
Kif20b	A	C	19: 34,918,611 (GRCm39)		probably null	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lama5	T	G	2: 179,825,942 (GRCm39)	I2372L	probably benign	Het
Lilrb4a	A	G	10: 51,368,139 (GRCm39)	T85A	possibly damaging	Het
Mapk13	C	A	17: 28,997,197 (GRCm39)	H330N	probably benign	Het
Mars1	C	A	10: 127,132,549 (GRCm39)		probably benign	Het
Mdga1	C	A	17: 30,057,052 (GRCm39)	R818L	probably damaging	Het
Mdn1	T	A	4: 32,671,608 (GRCm39)	L476Q	possibly damaging	Het
Mup21	T	C	4: 62,066,202 (GRCm39)	E178G	probably benign	Het
Myg1	A	G	15: 102,240,288 (GRCm39)	N38S	probably benign	Het
Ncam1	A	T	9: 49,416,779 (GRCm39)	D837E	probably benign	Het
Ncam2	C	T	16: 81,386,679 (GRCm39)	P686L	possibly damaging	Het
Nck2	T	C	1: 43,500,231 (GRCm39)		probably benign	Het
Nfya	T	C	17: 48,707,563 (GRCm39)		probably benign	Het
Npat	A	G	9: 53,482,330 (GRCm39)	K1346R	probably damaging	Het
Odad2	C	G	18: 7,181,787 (GRCm39)	D846H	probably damaging	Het
Or12j3	G	T	7: 139,952,920 (GRCm39)	T201K	probably benign	Het
Or4a72	T	C	2: 89,406,023 (GRCm39)	T16A	probably damaging	Het
Or6c212	A	G	10: 129,558,681 (GRCm39)	V244A	probably benign	Het
Pde7b	G	T	10: 20,288,873 (GRCm39)	Q325K	probably damaging	Het
Pla2r1	A	T	2: 60,253,056 (GRCm39)	M1345K	probably benign	Het
Prkcz	T	C	4: 155,441,946 (GRCm39)	D62G	probably damaging	Het
Pros1	T	A	16: 62,723,935 (GRCm39)	C228S	possibly damaging	Het
Ptprc	A	G	1: 138,006,236 (GRCm39)	M782T	possibly damaging	Het
Rcn1	T	C	2: 105,219,518 (GRCm39)	D225G	probably benign	Het
Recql4	G	A	15: 76,594,381 (GRCm39)	R46C	probably damaging	Het
Rnf220	C	T	4: 117,346,797 (GRCm39)	R205Q	possibly damaging	Het
Samd13	T	C	3: 146,368,502 (GRCm39)	D11G	probably benign	Het
Scp2d1	T	A	2: 144,666,030 (GRCm39)	I123K	probably benign	Het
Skap1	A	T	11: 96,644,870 (GRCm39)	Y311F	probably damaging	Het
Slc2a10	T	C	2: 165,356,676 (GRCm39)	I112T	possibly damaging	Het
Slc34a1	G	A	13: 24,003,078 (GRCm39)	V243M	probably benign	Het
Slc39a2	G	A	14: 52,132,711 (GRCm39)	G218D	probably damaging	Het
Sos1	T	C	17: 80,742,381 (GRCm39)	N382S	probably benign	Het
Spam1	C	T	6: 24,796,655 (GRCm39)	T202I	probably damaging	Het
Tas2r138	T	A	6: 40,589,820 (GRCm39)	Q142L	possibly damaging	Het
Tec	T	A	5: 72,939,365 (GRCm39)	R217*	probably null	Het
Tmeff2	T	A	1: 50,969,804 (GRCm39)	V90D	probably benign	Het
Tmem119	T	C	5: 113,933,405 (GRCm39)	Y132C	probably damaging	Het
Topbp1	A	G	9: 103,190,035 (GRCm39)	I204V	probably benign	Het
Trappc14	A	T	5: 138,260,641 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,601,232 (GRCm39)	I17001N	probably damaging	Het
Vit	T	A	17: 78,894,270 (GRCm39)	M224K	probably benign	Het
Vmn1r179	T	G	7: 23,628,491 (GRCm39)	H227Q	possibly damaging	Het
Vmn1r84	T	C	7: 12,095,743 (GRCm39)	N305D	probably benign	Het
Vmn2r61	A	G	7: 41,916,520 (GRCm39)	N378D	probably damaging	Het
Vmn2r87	A	G	10: 130,314,435 (GRCm39)	Y384H	probably damaging	Het
Wiz	C	T	17: 32,580,570 (GRCm39)	A294T	probably benign	Het
Xdh	C	A	17: 74,231,931 (GRCm39)	V260L	possibly damaging	Het
Xirp2	A	G	2: 67,343,237 (GRCm39)	K1826R	probably benign	Het
Zfp445	A	C	9: 122,681,358 (GRCm39)	I861R	probably benign	Het
Zfp691	T	C	4: 119,027,999 (GRCm39)	T78A	probably benign	Het

Other mutations in Impg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01329:Impg1	APN	9	80,230,111 (GRCm39)	missense	probably benign	0.02
IGL01733:Impg1	APN	9	80,249,206 (GRCm39)	missense	probably damaging	0.99
IGL02333:Impg1	APN	9	80,322,808 (GRCm39)	missense	possibly damaging	0.74
IGL03097:Impg1	UTSW	9	80,287,234 (GRCm39)	missense	possibly damaging	0.48
R0021:Impg1	UTSW	9	80,317,479 (GRCm39)	missense	probably damaging	1.00
R0029:Impg1	UTSW	9	80,305,653 (GRCm39)	missense	probably damaging	1.00
R0029:Impg1	UTSW	9	80,305,653 (GRCm39)	missense	probably damaging	1.00
R0108:Impg1	UTSW	9	80,230,130 (GRCm39)	missense	possibly damaging	0.63
R0201:Impg1	UTSW	9	80,252,843 (GRCm39)	missense	probably damaging	1.00
R0271:Impg1	UTSW	9	80,294,161 (GRCm39)	splice site	probably benign
R0316:Impg1	UTSW	9	80,249,347 (GRCm39)	missense	probably damaging	1.00
R0492:Impg1	UTSW	9	80,252,590 (GRCm39)	missense	possibly damaging	0.74
R0633:Impg1	UTSW	9	80,301,437 (GRCm39)	missense	possibly damaging	0.72
R0705:Impg1	UTSW	9	80,287,261 (GRCm39)	missense	probably damaging	1.00
R0962:Impg1	UTSW	9	80,289,023 (GRCm39)	missense	probably benign	0.23
R1264:Impg1	UTSW	9	80,221,675 (GRCm39)	missense	probably benign	0.31
R1707:Impg1	UTSW	9	80,285,799 (GRCm39)	splice site	probably null
R2017:Impg1	UTSW	9	80,322,720 (GRCm39)	missense	probably damaging	1.00
R3904:Impg1	UTSW	9	80,252,867 (GRCm39)	missense	possibly damaging	0.76
R3960:Impg1	UTSW	9	80,322,917 (GRCm39)	missense	probably benign	0.00
R4231:Impg1	UTSW	9	80,252,611 (GRCm39)	missense	probably damaging	1.00
R4233:Impg1	UTSW	9	80,252,611 (GRCm39)	missense	probably damaging	1.00
R4235:Impg1	UTSW	9	80,252,611 (GRCm39)	missense	probably damaging	1.00
R4236:Impg1	UTSW	9	80,252,611 (GRCm39)	missense	probably damaging	1.00
R4490:Impg1	UTSW	9	80,301,341 (GRCm39)	missense	probably damaging	1.00
R4592:Impg1	UTSW	9	80,322,907 (GRCm39)	missense	probably benign	0.05
R4701:Impg1	UTSW	9	80,221,682 (GRCm39)	missense	probably benign	0.07
R4785:Impg1	UTSW	9	80,305,732 (GRCm39)	missense	probably benign	0.01
R4796:Impg1	UTSW	9	80,301,377 (GRCm39)	missense	probably damaging	0.99
R4923:Impg1	UTSW	9	80,252,360 (GRCm39)	nonsense	probably null
R5468:Impg1	UTSW	9	80,347,318 (GRCm39)	missense	probably benign	0.05
R5596:Impg1	UTSW	9	80,252,500 (GRCm39)	missense	probably benign	0.24
R6001:Impg1	UTSW	9	80,223,454 (GRCm39)	missense	probably benign	0.12
R6156:Impg1	UTSW	9	80,230,106 (GRCm39)	missense	probably damaging	1.00
R6315:Impg1	UTSW	9	80,301,356 (GRCm39)	missense	probably benign	0.21
R6419:Impg1	UTSW	9	80,287,300 (GRCm39)	missense	probably benign	0.38
R6880:Impg1	UTSW	9	80,312,082 (GRCm39)	missense	probably damaging	1.00
R7013:Impg1	UTSW	9	80,285,776 (GRCm39)	missense	probably damaging	1.00
R8542:Impg1	UTSW	9	80,312,080 (GRCm39)	missense	probably damaging	1.00
R9018:Impg1	UTSW	9	80,301,474 (GRCm39)	missense	probably benign	0.19
R9034:Impg1	UTSW	9	80,347,351 (GRCm39)	start gained	probably benign
R9174:Impg1	UTSW	9	80,252,750 (GRCm39)	missense	probably damaging	0.99
R9242:Impg1	UTSW	9	80,289,064 (GRCm39)	missense	probably damaging	1.00
R9344:Impg1	UTSW	9	80,312,040 (GRCm39)	missense	probably benign	0.39
R9380:Impg1	UTSW	9	80,289,077 (GRCm39)	missense	probably benign	0.34
R9584:Impg1	UTSW	9	80,322,849 (GRCm39)	missense	probably benign	0.14
R9594:Impg1	UTSW	9	80,288,923 (GRCm39)	missense	probably damaging	1.00
R9632:Impg1	UTSW	9	80,287,276 (GRCm39)	missense	probably benign	0.24
R9710:Impg1	UTSW	9	80,287,276 (GRCm39)	missense	probably benign	0.24
Z1176:Impg1	UTSW	9	80,285,749 (GRCm39)	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- AGGATGCAGGCCAATGTGAC -3'
(R):5'- TGTTGGCCTACTAGTAATAAAGAGGG -3'

Sequencing Primer
(F):5'- TGCAGGCCAATGTGACGATTC -3'
(R):5'- TGGCATCAGGAATGTCCT -3'

Posted On

2016-04-15