Incidental Mutation 'R6909:Impg2'
ID |
538950 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Impg2
|
Ensembl Gene |
ENSMUSG00000035270 |
Gene Name |
interphotoreceptor matrix proteoglycan 2 |
Synonyms |
IPM200, Spacrcan, PG10.2 |
MMRRC Submission |
045001-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.106)
|
Stock # |
R6909 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
56024676-56094119 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 56024947 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 18
(F18S)
|
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: F18S
PolyPhen 2
Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000063648 Gene: ENSMUSG00000035270 AA Change: F18S
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 damaging
Transcript: ENSMUST00000160116
AA Change: F18S
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000125135 Gene: ENSMUSG00000035270 AA Change: F18S
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: 99.9%
- 10x: 99.1%
- 20x: 97.1%
|
Validation Efficiency |
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
G |
T |
11: 110,006,323 (GRCm39) |
Q1261K |
probably benign |
Het |
Acp3 |
T |
C |
9: 104,178,164 (GRCm39) |
Y329C |
probably damaging |
Het |
Agrn |
G |
T |
4: 156,261,464 (GRCm39) |
H585N |
possibly damaging |
Het |
Ano1 |
G |
A |
7: 144,209,468 (GRCm39) |
T211M |
probably damaging |
Het |
Atic |
T |
G |
1: 71,616,005 (GRCm39) |
|
probably null |
Het |
Catsperd |
T |
A |
17: 56,957,781 (GRCm39) |
S229R |
probably damaging |
Het |
Ccdc168 |
C |
T |
1: 44,098,935 (GRCm39) |
R721Q |
possibly damaging |
Het |
Cfap210 |
A |
T |
2: 69,612,192 (GRCm39) |
|
probably null |
Het |
Cfap251 |
A |
G |
5: 123,425,815 (GRCm39) |
Y418C |
probably damaging |
Het |
Cibar1 |
T |
C |
4: 12,168,309 (GRCm39) |
T97A |
probably benign |
Het |
Cmya5 |
T |
C |
13: 93,227,760 (GRCm39) |
T2443A |
probably benign |
Het |
Dysf |
A |
T |
6: 84,169,920 (GRCm39) |
E1772V |
probably damaging |
Het |
Eps8l1 |
T |
A |
7: 4,472,899 (GRCm39) |
L107* |
probably null |
Het |
Fpr3 |
T |
A |
17: 18,191,429 (GRCm39) |
F233L |
probably benign |
Het |
Gjc2 |
A |
T |
11: 59,067,918 (GRCm39) |
V188E |
unknown |
Het |
Gm45861 |
T |
A |
8: 28,017,109 (GRCm39) |
Y690N |
unknown |
Het |
Gsdma2 |
T |
A |
11: 98,543,383 (GRCm39) |
C224* |
probably null |
Het |
Gucy2d |
T |
A |
7: 98,116,832 (GRCm39) |
Y881N |
probably damaging |
Het |
Hcn3 |
A |
G |
3: 89,059,936 (GRCm39) |
|
probably null |
Het |
Hectd1 |
G |
T |
12: 51,810,945 (GRCm39) |
|
probably null |
Het |
Ifitm5 |
A |
G |
7: 140,529,172 (GRCm39) |
F146L |
probably benign |
Het |
Ino80c |
T |
A |
18: 24,241,812 (GRCm39) |
|
probably benign |
Het |
Itga10 |
A |
G |
3: 96,569,915 (GRCm39) |
H1109R |
probably benign |
Het |
Kdm3b |
T |
A |
18: 34,960,381 (GRCm39) |
|
probably null |
Het |
Klra8 |
T |
G |
6: 130,102,123 (GRCm39) |
N104T |
probably benign |
Het |
Llgl2 |
G |
A |
11: 115,741,625 (GRCm39) |
C585Y |
probably damaging |
Het |
Lmod2 |
T |
A |
6: 24,604,157 (GRCm39) |
D377E |
probably benign |
Het |
Lrat |
G |
A |
3: 82,810,961 (GRCm39) |
S20F |
probably damaging |
Het |
Lrrc43 |
T |
A |
5: 123,638,482 (GRCm39) |
H363Q |
probably benign |
Het |
Lyst |
T |
G |
13: 13,917,960 (GRCm39) |
I3340S |
probably damaging |
Het |
Magi1 |
C |
A |
6: 93,674,301 (GRCm39) |
G948W |
probably damaging |
Het |
Map3k4 |
A |
C |
17: 12,489,872 (GRCm39) |
F520V |
probably damaging |
Het |
Mcm4 |
A |
T |
16: 15,446,561 (GRCm39) |
N607K |
probably damaging |
Het |
Mta3 |
T |
C |
17: 84,073,980 (GRCm39) |
V216A |
possibly damaging |
Het |
Ncor1 |
C |
A |
11: 62,220,312 (GRCm39) |
G2131V |
probably damaging |
Het |
Or10ag2 |
A |
G |
2: 87,248,959 (GRCm39) |
H189R |
probably damaging |
Het |
Or2z9 |
T |
A |
8: 72,854,372 (GRCm39) |
V256E |
possibly damaging |
Het |
Or5d16 |
A |
G |
2: 87,773,034 (GRCm39) |
S313P |
probably benign |
Het |
Or9k7 |
T |
A |
10: 130,046,622 (GRCm39) |
I126L |
probably benign |
Het |
Pramel12 |
T |
C |
4: 143,144,479 (GRCm39) |
L275P |
probably damaging |
Het |
Ptpn2 |
A |
T |
18: 67,809,041 (GRCm39) |
|
probably null |
Het |
Scn10a |
A |
G |
9: 119,438,856 (GRCm39) |
I1671T |
probably damaging |
Het |
Scyl2 |
A |
T |
10: 89,481,604 (GRCm39) |
S622T |
probably benign |
Het |
Sim1 |
C |
T |
10: 50,785,506 (GRCm39) |
R192C |
possibly damaging |
Het |
Skor2 |
A |
G |
18: 76,948,252 (GRCm39) |
H658R |
possibly damaging |
Het |
Slc10a5 |
A |
G |
3: 10,400,655 (GRCm39) |
S2P |
possibly damaging |
Het |
Slc37a4 |
A |
T |
9: 44,311,331 (GRCm39) |
K207N |
possibly damaging |
Het |
Syne2 |
G |
T |
12: 76,110,969 (GRCm39) |
V5768L |
probably benign |
Het |
Tdpoz3 |
T |
A |
3: 93,733,772 (GRCm39) |
V149E |
probably damaging |
Het |
Tekt5 |
T |
C |
16: 10,176,165 (GRCm39) |
N460S |
probably damaging |
Het |
Tk2 |
G |
T |
8: 104,963,442 (GRCm39) |
Y142* |
probably null |
Het |
Tkfc |
T |
A |
19: 10,573,630 (GRCm39) |
Q236L |
probably benign |
Het |
Tln2 |
G |
A |
9: 67,299,814 (GRCm39) |
T148I |
probably damaging |
Het |
Trim62 |
A |
G |
4: 128,778,021 (GRCm39) |
D20G |
probably damaging |
Het |
Tspan14 |
A |
C |
14: 40,635,398 (GRCm39) |
V166G |
probably benign |
Het |
Ttn |
A |
T |
2: 76,712,065 (GRCm39) |
|
probably benign |
Het |
Vmn1r217 |
T |
A |
13: 23,298,108 (GRCm39) |
M265L |
probably benign |
Het |
Vmn2r117 |
C |
G |
17: 23,698,479 (GRCm39) |
Q31H |
possibly damaging |
Het |
Zfp87 |
T |
C |
13: 74,519,861 (GRCm39) |
T406A |
possibly damaging |
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 |
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 |
R8524:Impg2
|
UTSW |
16 |
56,038,757 (GRCm39) |
missense |
probably benign |
0.03 |
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'- CGCTAACTGACAATGGTTTTAGAG -3'
(R):5'- TGGGAGATATTCTAAGGCTGCTC -3'
Sequencing Primer
(F):5'- ACAATGGTTTTAGAGTGGCTTCCC -3'
(R):5'- ATTCTAAGGCTGCTCAATAAAGC -3'
|
Posted On |
2018-11-06 |