Incidental Mutation 'R1618:Impg2'
| ID |
174471 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Impg2
|
| Ensembl Gene |
ENSMUSG00000035270 |
| Gene Name |
interphotoreceptor matrix proteoglycan 2 |
| Synonyms |
IPM200, Spacrcan, PG10.2 |
| MMRRC Submission |
039655-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R1618 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
56024676-56094119 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56080221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 566
(Y566C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069936]
[ENSMUST00000160116]
|
| AlphaFold |
Q80XH2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069936
AA Change: Y675C
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000063648
Gene: ENSMUSG00000035270
AA Change: Y675C
| 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: Y566C
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125135
Gene: ENSMUSG00000035270
AA Change: Y566C
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.3%
- 20x: 89.1%
|
| Validation Efficiency |
96% (79/82) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449E01Rik |
T |
C |
14: 105,736,380 (GRCm39) |
|
noncoding transcript |
Het |
| Abca8b |
A |
T |
11: 109,840,714 (GRCm39) |
|
probably benign |
Het |
| Akp3 |
G |
A |
1: 87,055,593 (GRCm39) |
G547R |
unknown |
Het |
| Anln |
A |
G |
9: 22,262,214 (GRCm39) |
|
probably null |
Het |
| Anpep |
T |
G |
7: 79,485,165 (GRCm39) |
Q607P |
probably benign |
Het |
| Arl13b |
A |
C |
16: 62,633,640 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
T |
C |
18: 22,650,044 (GRCm39) |
S678P |
probably damaging |
Het |
| Atf6b |
C |
T |
17: 34,866,702 (GRCm39) |
Q58* |
probably null |
Het |
| Camsap3 |
A |
G |
8: 3,648,740 (GRCm39) |
T20A |
probably benign |
Het |
| Cfap46 |
T |
A |
7: 139,232,726 (GRCm39) |
M782L |
probably benign |
Het |
| Cngb3 |
T |
C |
4: 19,364,260 (GRCm39) |
S155P |
probably benign |
Het |
| Coro1a |
T |
C |
7: 126,300,719 (GRCm39) |
I162V |
probably benign |
Het |
| Cry1 |
T |
A |
10: 84,982,318 (GRCm39) |
I343F |
probably damaging |
Het |
| Csnk1e |
A |
T |
15: 79,309,050 (GRCm39) |
M292K |
probably benign |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Cul9 |
A |
T |
17: 46,836,818 (GRCm39) |
M1069K |
probably benign |
Het |
| Cyp2c67 |
C |
A |
19: 39,631,708 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
T |
C |
12: 117,979,200 (GRCm39) |
I2633V |
probably damaging |
Het |
| Eif4g3 |
C |
A |
4: 137,933,369 (GRCm39) |
D1731E |
probably damaging |
Het |
| Epb41l4b |
T |
C |
4: 57,032,204 (GRCm39) |
T592A |
probably benign |
Het |
| Evi5 |
T |
C |
5: 107,946,984 (GRCm39) |
|
probably benign |
Het |
| Exo1 |
T |
A |
1: 175,728,952 (GRCm39) |
M672K |
probably benign |
Het |
| Fcho1 |
T |
C |
8: 72,163,047 (GRCm39) |
S661G |
probably damaging |
Het |
| Fnip2 |
A |
G |
3: 79,415,475 (GRCm39) |
Y188H |
possibly damaging |
Het |
| Foxb1 |
T |
C |
9: 69,667,293 (GRCm39) |
D79G |
probably damaging |
Het |
| Fyco1 |
T |
C |
9: 123,658,346 (GRCm39) |
Y610C |
probably damaging |
Het |
| Gm3095 |
T |
A |
14: 15,170,441 (GRCm39) |
Y97N |
probably damaging |
Het |
| Gm3095 |
C |
A |
14: 15,170,440 (GRCm39) |
N96K |
probably damaging |
Het |
| Gmfb |
A |
T |
14: 47,049,237 (GRCm39) |
L128* |
probably null |
Het |
| Gprc5c |
T |
A |
11: 114,755,220 (GRCm39) |
V299D |
possibly damaging |
Het |
| Hsfy2 |
C |
T |
1: 56,676,388 (GRCm39) |
V50I |
probably benign |
Het |
| Hspa12b |
A |
C |
2: 130,982,849 (GRCm39) |
K236Q |
probably benign |
Het |
| Itpr3 |
A |
C |
17: 27,335,581 (GRCm39) |
|
probably null |
Het |
| Kprp |
G |
A |
3: 92,732,783 (GRCm39) |
T89I |
probably damaging |
Het |
| Lcmt2 |
T |
C |
2: 120,969,133 (GRCm39) |
E650G |
probably damaging |
Het |
| Lrch1 |
T |
C |
14: 75,051,144 (GRCm39) |
D331G |
probably damaging |
Het |
| Mroh9 |
T |
A |
1: 162,852,110 (GRCm39) |
I860F |
probably benign |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| Myt1l |
A |
G |
12: 29,877,396 (GRCm39) |
D349G |
unknown |
Het |
| Ndufs2 |
T |
C |
1: 171,073,690 (GRCm39) |
T31A |
probably benign |
Het |
| Ndufs3 |
A |
T |
2: 90,729,016 (GRCm39) |
S157T |
probably benign |
Het |
| Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
| Noct |
T |
A |
3: 51,155,251 (GRCm39) |
S6R |
probably damaging |
Het |
| Npas2 |
T |
A |
1: 39,339,808 (GRCm39) |
H119Q |
probably damaging |
Het |
| Oprl1 |
A |
T |
2: 181,360,646 (GRCm39) |
Y207F |
probably benign |
Het |
| Or2n1e |
G |
A |
17: 38,586,557 (GRCm39) |
|
probably null |
Het |
| Or4c11 |
A |
G |
2: 88,695,871 (GRCm39) |
|
probably null |
Het |
| Or8k30 |
T |
G |
2: 86,339,193 (GRCm39) |
L130R |
probably damaging |
Het |
| Palm3 |
G |
T |
8: 84,756,291 (GRCm39) |
S601I |
possibly damaging |
Het |
| Plscr1 |
T |
A |
9: 92,148,548 (GRCm39) |
C163S |
probably damaging |
Het |
| Ptprk |
A |
T |
10: 28,369,166 (GRCm39) |
M713L |
probably benign |
Het |
| Rdm1 |
A |
G |
11: 101,519,217 (GRCm39) |
D72G |
possibly damaging |
Het |
| Reln |
T |
C |
5: 22,265,366 (GRCm39) |
D442G |
probably benign |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Sbno1 |
T |
C |
5: 124,542,279 (GRCm39) |
Y338C |
probably damaging |
Het |
| Seh1l |
T |
G |
18: 67,921,806 (GRCm39) |
V222G |
probably damaging |
Het |
| Septin12 |
T |
C |
16: 4,814,340 (GRCm39) |
K43R |
probably damaging |
Het |
| Slc25a18 |
A |
C |
6: 120,763,303 (GRCm39) |
|
probably benign |
Het |
| Slc33a1 |
T |
C |
3: 63,855,650 (GRCm39) |
T332A |
possibly damaging |
Het |
| Slc35d3 |
A |
G |
10: 19,724,909 (GRCm39) |
S316P |
probably benign |
Het |
| Spmip7 |
A |
G |
11: 11,438,641 (GRCm39) |
|
probably benign |
Het |
| Srrm2 |
T |
A |
17: 24,037,906 (GRCm39) |
|
probably benign |
Het |
| Srsf12 |
C |
T |
4: 33,230,974 (GRCm39) |
S156L |
probably damaging |
Het |
| Syce3 |
A |
G |
15: 89,274,606 (GRCm39) |
M49T |
probably benign |
Het |
| Tjp3 |
T |
C |
10: 81,112,094 (GRCm39) |
|
probably benign |
Het |
| Tnks |
G |
T |
8: 35,342,430 (GRCm39) |
N373K |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,013,847 (GRCm39) |
N366S |
possibly damaging |
Het |
| Trpm1 |
G |
A |
7: 63,890,283 (GRCm39) |
R962H |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,854,995 (GRCm39) |
M1885L |
possibly damaging |
Het |
| Tshz3 |
A |
G |
7: 36,471,221 (GRCm39) |
D1070G |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,546,421 (GRCm39) |
M3399T |
probably benign |
Het |
| Utp15 |
G |
A |
13: 98,393,695 (GRCm39) |
T196I |
probably benign |
Het |
| Vmn1r168 |
T |
C |
7: 23,240,725 (GRCm39) |
I194T |
probably benign |
Het |
| Vmn2r73 |
C |
T |
7: 85,525,120 (GRCm39) |
W9* |
probably null |
Het |
| Wdr17 |
T |
C |
8: 55,092,930 (GRCm39) |
Y1076C |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,382,092 (GRCm39) |
T5152A |
unknown |
Het |
| Zbtb46 |
A |
T |
2: 181,066,042 (GRCm39) |
V36E |
possibly damaging |
Het |
| Zfp558 |
T |
C |
9: 18,380,579 (GRCm39) |
I9M |
possibly damaging |
Het |
| Zscan2 |
T |
A |
7: 80,525,534 (GRCm39) |
Y418* |
probably null |
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 |
|
|
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 |
|
|
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'- ACACCTTCTGGCTTGGAGTCCTTG -3'
(R):5'- GCATATCTGGCCTTGACACTGGAAC -3'
Sequencing Primer
(F):5'- GGAGTCCTTGGCTTCCAAC -3'
(R):5'- TTGACACTGGAACCTCACTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation