Incidental Mutation 'R7456:Impg2'
| ID |
578162 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Impg2
|
| Ensembl Gene |
ENSMUSG00000035270 |
| Gene Name |
interphotoreceptor matrix proteoglycan 2 |
| Synonyms |
IPM200, Spacrcan, PG10.2 |
| MMRRC Submission |
045530-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R7456 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
56024676-56094119 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56080276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 693
(I693M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063648
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069936]
[ENSMUST00000160116]
|
| AlphaFold |
Q80XH2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069936
AA Change: I693M
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000063648
Gene: ENSMUSG00000035270
AA Change: I693M
| 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 benign
Transcript: ENSMUST00000160116
AA Change: I584M
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000125135
Gene: ENSMUSG00000035270
AA Change: I584M
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer2 |
A |
G |
4: 86,792,748 (GRCm39) |
D8G |
possibly damaging |
Het |
| Angpt4 |
T |
C |
2: 151,780,987 (GRCm39) |
Y412H |
probably damaging |
Het |
| Ankef1 |
A |
G |
2: 136,387,734 (GRCm39) |
D217G |
probably benign |
Het |
| Ano2 |
A |
T |
6: 125,940,508 (GRCm39) |
I544F |
probably benign |
Het |
| App |
G |
A |
16: 84,970,448 (GRCm39) |
|
|
Het |
| Arhgef26 |
A |
G |
3: 62,247,476 (GRCm39) |
T187A |
probably benign |
Het |
| Axin1 |
T |
A |
17: 26,362,139 (GRCm39) |
V161E |
probably damaging |
Het |
| Bbs7 |
A |
T |
3: 36,648,527 (GRCm39) |
V407D |
probably damaging |
Het |
| C1qtnf3 |
A |
T |
15: 10,972,137 (GRCm39) |
E141V |
probably benign |
Het |
| C2 |
A |
G |
17: 35,083,558 (GRCm39) |
I469T |
probably damaging |
Het |
| Cc2d1a |
A |
G |
8: 84,866,868 (GRCm39) |
|
probably null |
Het |
| Cd226 |
A |
T |
18: 89,224,747 (GRCm39) |
I10F |
probably damaging |
Het |
| Cep295nl |
T |
C |
11: 118,224,376 (GRCm39) |
K156R |
possibly damaging |
Het |
| Cfap20dc |
A |
T |
14: 8,442,933 (GRCm38) |
L612* |
probably null |
Het |
| Cfap44 |
A |
G |
16: 44,252,305 (GRCm39) |
T805A |
probably benign |
Het |
| Chd9 |
G |
T |
8: 91,659,153 (GRCm39) |
E38* |
probably null |
Het |
| Cldnd2 |
C |
T |
7: 43,091,109 (GRCm39) |
L14F |
not run |
Het |
| Cyp11b2 |
T |
C |
15: 74,725,379 (GRCm39) |
T247A |
probably benign |
Het |
| Dennd11 |
T |
G |
6: 40,383,774 (GRCm39) |
M423L |
probably benign |
Het |
| Dsc1 |
T |
C |
18: 20,219,879 (GRCm39) |
S764G |
probably benign |
Het |
| Dsg3 |
A |
T |
18: 20,664,420 (GRCm39) |
T473S |
probably benign |
Het |
| Fam193a |
A |
T |
5: 34,578,132 (GRCm39) |
I209F |
possibly damaging |
Het |
| Foxs1 |
T |
C |
2: 152,775,045 (GRCm39) |
K3E |
probably benign |
Het |
| Gabrr3 |
C |
T |
16: 59,227,853 (GRCm39) |
Q37* |
probably null |
Het |
| Gcm2 |
A |
T |
13: 41,256,751 (GRCm39) |
W333R |
probably benign |
Het |
| Gcn1 |
C |
T |
5: 115,743,005 (GRCm39) |
Q1559* |
probably null |
Het |
| Gfm2 |
A |
T |
13: 97,282,211 (GRCm39) |
K69* |
probably null |
Het |
| Gm14295 |
T |
G |
2: 176,500,943 (GRCm39) |
C144W |
possibly damaging |
Het |
| Gm32742 |
G |
A |
9: 51,071,270 (GRCm39) |
T5I |
probably damaging |
Het |
| Gm5093 |
T |
C |
17: 46,750,679 (GRCm39) |
D116G |
probably damaging |
Het |
| Gsn |
A |
T |
2: 35,172,718 (GRCm39) |
K3N |
possibly damaging |
Het |
| H2-M2 |
C |
T |
17: 37,792,552 (GRCm39) |
D240N |
possibly damaging |
Het |
| Habp2 |
G |
C |
19: 56,307,957 (GRCm39) |
G482R |
probably damaging |
Het |
| Hnrnpm |
A |
T |
17: 33,865,622 (GRCm39) |
Y680N |
possibly damaging |
Het |
| Hrc |
T |
A |
7: 44,986,320 (GRCm39) |
D490E |
possibly damaging |
Het |
| Itga7 |
A |
G |
10: 128,777,805 (GRCm39) |
Y262C |
probably damaging |
Het |
| Kif1c |
A |
G |
11: 70,619,424 (GRCm39) |
T1020A |
probably benign |
Het |
| Kif23 |
T |
C |
9: 61,844,402 (GRCm39) |
I139V |
probably benign |
Het |
| Klk1b5 |
A |
G |
7: 43,500,255 (GRCm39) |
E281G |
probably benign |
Het |
| Kpna4 |
A |
G |
3: 69,000,181 (GRCm39) |
V275A |
probably damaging |
Het |
| Lamb2 |
C |
A |
9: 108,362,979 (GRCm39) |
D787E |
possibly damaging |
Het |
| Ldlrad3 |
A |
C |
2: 101,785,270 (GRCm39) |
V235G |
probably damaging |
Het |
| Maneal |
A |
G |
4: 124,750,767 (GRCm39) |
S330P |
probably damaging |
Het |
| Maz |
G |
A |
7: 126,625,489 (GRCm39) |
Q35* |
probably null |
Het |
| Mthfd1l |
C |
T |
10: 4,039,998 (GRCm39) |
T803M |
probably damaging |
Het |
| Muc5ac |
A |
G |
7: 141,346,904 (GRCm39) |
Q325R |
probably benign |
Het |
| Myo3a |
C |
A |
2: 22,412,255 (GRCm39) |
A758E |
probably benign |
Het |
| Ndufb7 |
A |
G |
8: 84,293,482 (GRCm39) |
D12G |
probably benign |
Het |
| Nsun2 |
T |
A |
13: 69,781,725 (GRCm39) |
C677S |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,899,384 (GRCm39) |
F6471S |
probably benign |
Het |
| Or4c106 |
A |
T |
2: 88,682,563 (GRCm39) |
I90F |
probably damaging |
Het |
| Or51k1 |
A |
G |
7: 103,661,045 (GRCm39) |
V288A |
possibly damaging |
Het |
| Or7g32 |
T |
C |
9: 19,408,844 (GRCm39) |
S267P |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,552,005 (GRCm39) |
D313G |
probably damaging |
Het |
| Paqr5 |
T |
C |
9: 61,880,072 (GRCm39) |
D74G |
probably benign |
Het |
| Pigq |
A |
G |
17: 26,153,580 (GRCm39) |
V365A |
unknown |
Het |
| Podn |
A |
T |
4: 107,875,002 (GRCm39) |
N588K |
probably benign |
Het |
| Polr3b |
G |
A |
10: 84,458,355 (GRCm39) |
G9R |
probably benign |
Het |
| Proser1 |
A |
G |
3: 53,385,939 (GRCm39) |
H607R |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,767,168 (GRCm39) |
V1241I |
probably benign |
Het |
| Sar1b |
G |
A |
11: 51,682,181 (GRCm39) |
A170T |
probably benign |
Het |
| Slc22a17 |
T |
C |
14: 55,149,716 (GRCm39) |
T191A |
probably benign |
Het |
| Slc35f3 |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
8: 127,115,779 (GRCm39) |
|
unknown |
Het |
| Slco6d1 |
A |
T |
1: 98,349,082 (GRCm39) |
D51V |
possibly damaging |
Het |
| Snx16 |
G |
A |
3: 10,500,541 (GRCm39) |
R143* |
probably null |
Het |
| Sytl2 |
T |
A |
7: 89,998,055 (GRCm39) |
L19Q |
probably damaging |
Het |
| Tmcc3 |
A |
G |
10: 94,418,174 (GRCm39) |
E345G |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,555,998 (GRCm39) |
A30336T |
probably damaging |
Het |
| Vmn1r44 |
A |
G |
6: 89,870,401 (GRCm39) |
D49G |
probably benign |
Het |
| Vps35l |
C |
T |
7: 118,403,340 (GRCm39) |
P628S |
probably benign |
Het |
| Vps41 |
T |
A |
13: 19,048,204 (GRCm39) |
D801E |
probably benign |
Het |
| Wif1 |
G |
A |
10: 120,932,554 (GRCm39) |
E311K |
probably benign |
Het |
| Zfp513 |
G |
T |
5: 31,357,759 (GRCm39) |
R207S |
possibly damaging |
Het |
| Zfp52 |
C |
A |
17: 21,781,615 (GRCm39) |
H488N |
probably damaging |
Het |
| Zfp738 |
A |
G |
13: 67,817,619 (GRCm39) |
Y791H |
probably 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 |
|
R6909:Impg2
|
UTSW |
16 |
56,024,947 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6959:Impg2
|
UTSW |
16 |
56,088,693 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7226:Impg2
|
UTSW |
16 |
56,087,467 (GRCm39) |
nonsense |
probably null |
|
|
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'- ACCACTGTCAAAGTCATGGTC -3'
(R):5'- CACTGGAACCTCACTGTCAAG -3'
Sequencing Primer
(F):5'- CCACTGTCAAAGTCATGGTCTGAAG -3'
(R):5'- GGAACCTCACTGTCAAGTTCTTTGTG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation