Incidental Mutation 'R8795:Impg2'
ID |
671225 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Impg2
|
Ensembl Gene |
ENSMUSG00000035270 |
Gene Name |
interphotoreceptor matrix proteoglycan 2 |
Synonyms |
IPM200, Spacrcan, PG10.2 |
MMRRC Submission |
068636-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.106)
|
Stock # |
R8795 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
56024676-56094119 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 56080611 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 805
(E805G)
|
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: E805G
PolyPhen 2
Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000063648 Gene: ENSMUSG00000035270 AA Change: E805G
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: E696G
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000125135 Gene: ENSMUSG00000035270 AA Change: E696G
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 |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
97% (72/74) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
A |
T |
17: 45,818,598 (GRCm39) |
M128L |
probably damaging |
Het |
Abcc12 |
A |
G |
8: 87,258,213 (GRCm39) |
S768P |
possibly damaging |
Het |
Adamts8 |
A |
T |
9: 30,854,484 (GRCm39) |
M118L |
probably benign |
Het |
Adgrl4 |
A |
G |
3: 151,216,416 (GRCm39) |
N533S |
probably benign |
Het |
Agk |
T |
G |
6: 40,363,854 (GRCm39) |
I278R |
possibly damaging |
Het |
Atr |
T |
A |
9: 95,749,584 (GRCm39) |
W466R |
probably damaging |
Het |
Cacna1h |
C |
T |
17: 25,612,538 (GRCm39) |
V387I |
probably damaging |
Het |
Cand2 |
T |
G |
6: 115,763,889 (GRCm39) |
D270E |
probably benign |
Het |
Ccdc107 |
C |
T |
4: 43,495,514 (GRCm39) |
T139M |
probably damaging |
Het |
Cenpl |
A |
G |
1: 160,910,584 (GRCm39) |
E177G |
probably benign |
Het |
Clint1 |
C |
A |
11: 45,775,178 (GRCm39) |
Q56K |
probably damaging |
Het |
Col9a1 |
A |
G |
1: 24,233,812 (GRCm39) |
R249G |
unknown |
Het |
Cpne5 |
C |
T |
17: 29,423,662 (GRCm39) |
|
probably benign |
Het |
Ddx27 |
A |
G |
2: 166,859,730 (GRCm39) |
D54G |
probably benign |
Het |
Dync2h1 |
C |
T |
9: 7,137,087 (GRCm39) |
E1468K |
probably benign |
Het |
E130308A19Rik |
A |
T |
4: 59,737,676 (GRCm39) |
N429I |
possibly damaging |
Het |
Endov |
G |
T |
11: 119,390,380 (GRCm39) |
G86C |
possibly damaging |
Het |
Ercc5 |
A |
T |
1: 44,203,089 (GRCm39) |
Y242F |
possibly damaging |
Het |
Gabrr1 |
T |
A |
4: 33,161,756 (GRCm39) |
V360E |
probably damaging |
Het |
Gcn1 |
T |
C |
5: 115,752,454 (GRCm39) |
I2153T |
probably benign |
Het |
Gje1 |
T |
C |
10: 14,593,870 (GRCm39) |
N8S |
probably benign |
Het |
Greb1l |
A |
G |
18: 10,553,739 (GRCm39) |
H1580R |
probably damaging |
Het |
Grin1 |
C |
G |
2: 25,187,468 (GRCm39) |
S614T |
probably damaging |
Het |
Hmcn2 |
A |
G |
2: 31,315,393 (GRCm39) |
N3714S |
probably benign |
Het |
Idh1 |
CA |
CAA |
1: 65,204,347 (GRCm39) |
|
probably null |
Het |
Ifitm2 |
A |
T |
7: 140,535,661 (GRCm39) |
H56Q |
probably damaging |
Het |
Ifrd1 |
G |
A |
12: 40,263,076 (GRCm39) |
T218I |
possibly damaging |
Het |
Igkv1-99 |
G |
T |
6: 68,519,370 (GRCm39) |
G109V |
|
Het |
Itgb6 |
T |
A |
2: 60,483,629 (GRCm39) |
N260Y |
probably damaging |
Het |
Maneal |
G |
T |
4: 124,750,483 (GRCm39) |
Y424* |
probably null |
Het |
Map4k2 |
T |
G |
19: 6,401,640 (GRCm39) |
C677W |
probably damaging |
Het |
Med6 |
T |
C |
12: 81,638,034 (GRCm39) |
H59R |
probably benign |
Het |
Mms22l |
T |
A |
4: 24,536,245 (GRCm39) |
D571E |
probably benign |
Het |
Mroh8 |
A |
G |
2: 157,067,493 (GRCm39) |
F622S |
probably damaging |
Het |
Mrpl44 |
A |
T |
1: 79,753,974 (GRCm39) |
Q42L |
probably damaging |
Het |
Myh8 |
G |
T |
11: 67,174,203 (GRCm39) |
|
probably benign |
Het |
Ndufb2 |
T |
C |
6: 39,569,586 (GRCm39) |
V13A |
probably benign |
Het |
Nf1 |
T |
A |
11: 79,316,442 (GRCm39) |
L499Q |
probably damaging |
Het |
Opa1 |
T |
C |
16: 29,448,450 (GRCm39) |
C874R |
probably damaging |
Het |
Or1i2 |
T |
C |
10: 78,447,698 (GRCm39) |
Y259C |
probably damaging |
Het |
Or4c99 |
T |
G |
2: 88,329,855 (GRCm39) |
V142G |
probably damaging |
Het |
Or4k37 |
T |
A |
2: 111,158,881 (GRCm39) |
L39* |
probably null |
Het |
Or6c6 |
T |
C |
10: 129,187,194 (GRCm39) |
I254T |
probably damaging |
Het |
Pld3 |
T |
A |
7: 27,235,286 (GRCm39) |
D314V |
possibly damaging |
Het |
Pou6f1 |
A |
C |
15: 100,485,686 (GRCm39) |
C114W |
possibly damaging |
Het |
Prl2c1 |
A |
C |
13: 28,033,389 (GRCm39) |
Q2P |
possibly damaging |
Het |
Prl2c1 |
G |
T |
13: 28,033,390 (GRCm39) |
Q2H |
probably benign |
Het |
Pzp |
C |
A |
6: 128,471,701 (GRCm39) |
K908N |
probably damaging |
Het |
Rab6b |
G |
A |
9: 103,039,825 (GRCm39) |
G125D |
probably damaging |
Het |
Rhbdd2 |
C |
T |
5: 135,663,985 (GRCm39) |
T69I |
probably benign |
Het |
Samd9l |
A |
T |
6: 3,374,221 (GRCm39) |
Y1013* |
probably null |
Het |
Slc13a4 |
T |
A |
6: 35,260,230 (GRCm39) |
T217S |
probably benign |
Het |
Slc66a3 |
A |
G |
12: 17,043,481 (GRCm39) |
W150R |
probably damaging |
Het |
Smarcad1 |
T |
C |
6: 65,049,033 (GRCm39) |
L253S |
probably benign |
Het |
Snrpa |
C |
A |
7: 26,891,034 (GRCm39) |
V146L |
possibly damaging |
Het |
Spata31f1e |
A |
G |
4: 42,792,992 (GRCm39) |
V380A |
probably benign |
Het |
Srrt |
A |
T |
5: 137,298,238 (GRCm39) |
D311E |
probably benign |
Het |
Stk32b |
A |
T |
5: 37,806,483 (GRCm39) |
F20L |
probably damaging |
Het |
Sult2a7 |
T |
C |
7: 14,224,014 (GRCm39) |
T136A |
probably benign |
Het |
Sv2a |
G |
A |
3: 96,094,396 (GRCm39) |
V244I |
probably benign |
Het |
Tesk1 |
T |
A |
4: 43,446,070 (GRCm39) |
|
probably null |
Het |
Tmem260 |
A |
G |
14: 48,689,370 (GRCm39) |
H63R |
probably damaging |
Het |
Ugt1a6b |
A |
G |
1: 88,034,794 (GRCm39) |
E44G |
probably benign |
Het |
Unc79 |
A |
T |
12: 103,074,513 (GRCm39) |
I1363F |
probably damaging |
Het |
Usp15 |
T |
A |
10: 122,988,953 (GRCm39) |
N255Y |
probably benign |
Het |
Usp35 |
A |
G |
7: 96,961,167 (GRCm39) |
V753A |
possibly damaging |
Het |
Usp35 |
T |
C |
7: 96,961,270 (GRCm39) |
N719D |
probably benign |
Het |
Vmn2r104 |
T |
A |
17: 20,262,988 (GRCm39) |
I158L |
probably benign |
Het |
Vmn2r69 |
A |
T |
7: 85,064,883 (GRCm39) |
M1K |
probably null |
Het |
Zan |
C |
T |
5: 137,396,522 (GRCm39) |
E4345K |
unknown |
Het |
Zc3h7a |
A |
T |
16: 10,965,147 (GRCm39) |
M662K |
possibly damaging |
Het |
Zfp512 |
G |
A |
5: 31,634,134 (GRCm39) |
V438M |
probably damaging |
Het |
Zfy1 |
T |
C |
Y: 738,945 (GRCm39) |
D87G |
unknown |
Het |
Zmym4 |
A |
T |
4: 126,799,819 (GRCm39) |
V653E |
probably benign |
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 |
|
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 |
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'- CCTGCTTCCACTAAGAAAACAGATG -3'
(R):5'- TAGCTGTCAGCCTTGCCATG -3'
Sequencing Primer
(F):5'- TTCCACTAAGAAAACAGATGAGGTAC -3'
(R):5'- CATGTTGTTCTTCAGTTAGCTCGGAC -3'
|
Posted On |
2021-04-30 |