Mutagenetix > Incidental Mutation

Incidental Mutation 'R5468:Impg1'

433352

Institutional Source

Beutler Lab

Gene Symbol

Impg1

Ensembl Gene

ENSMUSG00000032343

Gene Name

interphotoreceptor matrix proteoglycan 1

Synonyms

SPACR, A930015H12Rik, IMP150

MMRRC Submission

043029-MU

Accession Numbers

Essential gene?

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

Stock #

R5468 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80220612-80347534 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80347318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 9 (I9V)

Ref Sequence

ENSEMBL: ENSMUSP00000139151 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085289] [ENSMUST00000113250] [ENSMUST00000185068]

AlphaFold

Q8R1W8

Predicted Effect

probably benign
Transcript: ENSMUST00000085289
AA Change: I9V

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000082395
Gene: ENSMUSG00000032343
AA Change: I9V

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

probably benign
Transcript: ENSMUST00000113250
AA Change: I9V

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000108876
Gene: ENSMUSG00000032343
AA Change: I9V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000185068
AA Change: I9V

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000139151
Gene: ENSMUSG00000032343
AA Change: I9V

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:SEA	157	216	1.2e-13	PFAM

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.2%
20x: 91.0%

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008O03Rik	C	T	7: 44,009,659 (GRCm39)	R181Q	probably damaging	Het
Abca13	T	A	11: 9,244,062 (GRCm39)	L1975Q	probably damaging	Het
Acp2	T	A	2: 91,036,443 (GRCm39)	I180N	probably benign	Het
Adam12	T	C	7: 133,577,202 (GRCm39)	D221G	probably damaging	Het
Adamts4	A	G	1: 171,080,178 (GRCm39)	T244A	probably benign	Het
Adrb2	A	T	18: 62,312,696 (GRCm39)	I43N	probably damaging	Het
Anxa1	A	T	19: 20,355,847 (GRCm39)	Y207N	probably damaging	Het
Apba2	T	C	7: 64,395,510 (GRCm39)	L662P	probably damaging	Het
Arhgap18	T	A	10: 26,788,667 (GRCm39)	I593K	probably damaging	Het
Arsj	T	C	3: 126,232,037 (GRCm39)	V261A	possibly damaging	Het
Atp7b	A	T	8: 22,549,986 (GRCm39)		probably null	Het
C2cd2	C	T	16: 97,669,791 (GRCm39)		probably null	Het
Cenpf	A	T	1: 189,384,568 (GRCm39)	S2571T	probably damaging	Het
Cep162	A	C	9: 87,109,290 (GRCm39)	L438V	probably benign	Het
Cfap74	A	T	4: 155,510,498 (GRCm39)	N361I	probably benign	Het
Cntn5	A	G	9: 9,743,633 (GRCm39)	I548T	probably damaging	Het
Cracd	A	T	5: 76,988,610 (GRCm39)		probably benign	Het
Dglucy	A	G	12: 100,816,594 (GRCm39)	N382S	probably benign	Het
Dnah10	C	A	5: 124,907,557 (GRCm39)	N4306K	probably damaging	Het
Fam181a	A	T	12: 103,282,937 (GRCm39)	M281L	probably benign	Het
Fam186b	A	G	15: 99,176,751 (GRCm39)	I713T	possibly damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Fry	A	T	5: 150,323,053 (GRCm39)	Y1068F	probably benign	Het
Fubp3	A	G	2: 31,493,247 (GRCm39)	I231V	probably benign	Het
Gbf1	A	G	19: 46,272,735 (GRCm39)	D1681G	possibly damaging	Het
Gm10999	G	A	8: 129,858,130 (GRCm39)	P5S	probably damaging	Het
Gm12689	T	C	4: 99,184,402 (GRCm39)	I85T	unknown	Het
Lama4	A	G	10: 38,948,678 (GRCm39)		probably null	Het
Lamc1	A	G	1: 153,109,310 (GRCm39)	S1161P	probably damaging	Het
Lipm	T	A	19: 34,086,954 (GRCm39)		probably null	Het
Lrrc7	G	T	3: 158,024,073 (GRCm39)	N107K	probably damaging	Het
Lypd8	T	C	11: 58,277,586 (GRCm39)	S123P	probably damaging	Het
Man2a2	T	C	7: 80,002,729 (GRCm39)	D1084G	probably damaging	Het
Man2b2	A	G	5: 36,964,519 (GRCm39)	S1000P	probably benign	Het
Ms4a7	C	T	19: 11,299,778 (GRCm39)	C71Y	probably benign	Het
Mtus1	A	G	8: 41,537,615 (GRCm39)	S34P	probably benign	Het
Myo3b	A	G	2: 70,064,785 (GRCm39)	N406S	probably benign	Het
Nbr1	A	T	11: 101,463,290 (GRCm39)	M586L	probably benign	Het
Nfatc1	C	T	18: 80,693,070 (GRCm39)	R677H	probably benign	Het
Nlrc3	A	C	16: 3,781,899 (GRCm39)	S503R	probably damaging	Het
Nlrp9c	A	T	7: 26,064,425 (GRCm39)	F968I	probably benign	Het
Onecut1	A	T	9: 74,770,614 (GRCm39)	T346S	probably damaging	Het
Or1j12	A	T	2: 36,343,455 (GRCm39)	N286I	probably damaging	Het
Or8b35	G	A	9: 37,904,307 (GRCm39)	C168Y	probably damaging	Het
Or8g32	A	G	9: 39,305,257 (GRCm39)	N57D	probably benign	Het
Pclo	A	T	5: 14,730,966 (GRCm39)	K3156M	unknown	Het
Pigo	C	T	4: 43,024,562 (GRCm39)		probably null	Het
Plcb4	T	C	2: 135,809,072 (GRCm39)	F580S	probably damaging	Het
Plekhm2	G	T	4: 141,355,411 (GRCm39)	P879H	probably damaging	Het
Ppm1e	T	A	11: 87,121,716 (GRCm39)	Y747F	probably benign	Het
Ppwd1	A	G	13: 104,361,952 (GRCm39)	F69L	possibly damaging	Het
Prss27	C	A	17: 24,257,287 (GRCm39)	Q3K	possibly damaging	Het
Prss29	T	A	17: 25,540,020 (GRCm39)	N139K	possibly damaging	Het
Qrich2	T	A	11: 116,339,191 (GRCm39)	T1777S	probably damaging	Het
Rbp3	A	T	14: 33,678,584 (GRCm39)	H844L	possibly damaging	Het
Rubcnl	G	A	14: 75,269,471 (GRCm39)	C43Y	possibly damaging	Het
Sec14l5	A	G	16: 4,985,004 (GRCm39)		probably null	Het
Sepsecs	A	T	5: 52,801,356 (GRCm39)	N435K	probably damaging	Het
Sfrp1	A	G	8: 23,936,226 (GRCm39)	K223E	probably benign	Het
Sh3tc2	G	A	18: 62,106,502 (GRCm39)		probably null	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Tmprss7	A	G	16: 45,476,811 (GRCm39)	F817S	probably damaging	Het
Tril	T	C	6: 53,796,632 (GRCm39)	N197D	probably damaging	Het
Tspan18	T	C	2: 93,040,207 (GRCm39)	T183A	probably benign	Het
Uroc1	A	T	6: 90,315,586 (GRCm39)	M156L	probably benign	Het
Wnt16	T	C	6: 22,291,160 (GRCm39)	V196A	probably benign	Het
Xpnpep1	A	G	19: 52,983,950 (GRCm39)	Y592H	probably benign	Het
Zfp553	T	C	7: 126,836,202 (GRCm39)	S586P	probably benign	Het
Zfp619	C	T	7: 39,185,152 (GRCm39)	A394V	unknown	Het
Zfp985	A	G	4: 147,667,702 (GRCm39)	Y190C	probably benign	Het
Zmynd10	T	A	9: 107,427,536 (GRCm39)	D309E	probably benign	Het
Zmynd15	T	C	11: 70,352,646 (GRCm39)	L73P	probably damaging	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	80,252,827 (GRCm39)	missense	probably damaging	0.98
R4923:Impg1	UTSW	9	80,252,360 (GRCm39)	nonsense	probably null
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'- GCACTTCCTATATAAATGCCGTAC -3'
(R):5'- CCTTCATAGGGTAAACCAGGGAG -3'

Sequencing Primer
(F):5'- GGGTCTCCCTAAGTTACTCTGG -3'
(R):5'- AGGTCGTCTGTACTCAGCC -3'

Posted On

2016-10-06