Incidental Mutation 'R9645:Impg2'
| ID |
726245 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Impg2
|
| Ensembl Gene |
ENSMUSG00000035270 |
| Gene Name |
interphotoreceptor matrix proteoglycan 2 |
| Synonyms |
IPM200, Spacrcan, PG10.2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R9645 (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 56038767 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 135
(E135G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063648
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069936]
[ENSMUST00000160116]
|
| AlphaFold |
Q80XH2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069936
AA Change: E135G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000063648
Gene: ENSMUSG00000035270
AA Change: E135G
| 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: E135G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000125135
Gene: ENSMUSG00000035270
AA Change: E135G
| 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: 99.7%
- 20x: 99.0%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
T |
C |
5: 138,644,793 (GRCm39) |
V226A |
probably benign |
Het |
| Acan |
G |
T |
7: 78,749,653 (GRCm39) |
V1475F |
probably benign |
Het |
| Acin1 |
T |
A |
14: 54,901,913 (GRCm39) |
R626S |
probably benign |
Het |
| Aff3 |
T |
C |
1: 38,249,121 (GRCm39) |
K662R |
probably damaging |
Het |
| Ankrd11 |
C |
T |
8: 123,617,682 (GRCm39) |
A2057T |
probably benign |
Het |
| Ano9 |
T |
G |
7: 140,687,388 (GRCm39) |
N309T |
probably benign |
Het |
| Ap3d1 |
G |
A |
10: 80,545,062 (GRCm39) |
S1092L |
probably benign |
Het |
| B4galt7 |
C |
T |
13: 55,756,556 (GRCm39) |
H257Y |
probably damaging |
Het |
| BC051665 |
G |
T |
13: 60,932,545 (GRCm39) |
Q47K |
possibly damaging |
Het |
| Brip1 |
A |
G |
11: 85,952,512 (GRCm39) |
F1090L |
probably benign |
Het |
| Cabin1 |
A |
G |
10: 75,494,543 (GRCm39) |
V1612A |
probably benign |
Het |
| Ccar1 |
A |
T |
10: 62,602,369 (GRCm39) |
D434E |
probably benign |
Het |
| Ccdc15 |
T |
C |
9: 37,227,083 (GRCm39) |
D297G |
probably benign |
Het |
| Celsr3 |
C |
A |
9: 108,704,691 (GRCm39) |
Y391* |
probably null |
Het |
| Cfap52 |
A |
G |
11: 67,837,179 (GRCm39) |
I194T |
possibly damaging |
Het |
| Ctif |
T |
C |
18: 75,757,352 (GRCm39) |
E67G |
probably benign |
Het |
| Cxcr6 |
T |
C |
9: 123,639,151 (GRCm39) |
F58L |
possibly damaging |
Het |
| Cyp2c69 |
T |
C |
19: 39,869,593 (GRCm39) |
E142G |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 73,115,750 (GRCm39) |
R1549S |
possibly damaging |
Het |
| Duxf3 |
A |
T |
10: 58,066,803 (GRCm39) |
H75Q |
probably benign |
Het |
| Ehbp1 |
A |
T |
11: 22,051,052 (GRCm39) |
I500N |
probably damaging |
Het |
| F13a1 |
A |
T |
13: 37,082,154 (GRCm39) |
S517T |
probably benign |
Het |
| Fbln7 |
C |
T |
2: 128,719,316 (GRCm39) |
R38C |
probably damaging |
Het |
| Fn1 |
T |
C |
1: 71,667,629 (GRCm39) |
N788S |
probably benign |
Het |
| Foxc1 |
A |
T |
13: 31,991,882 (GRCm39) |
E231V |
probably damaging |
Het |
| Gal3st2b |
T |
C |
1: 93,866,328 (GRCm39) |
S10P |
probably damaging |
Het |
| Gm6899 |
G |
A |
11: 26,543,592 (GRCm39) |
C53Y |
unknown |
Het |
| Hps3 |
T |
C |
3: 20,084,831 (GRCm39) |
E119G |
probably benign |
Het |
| Kalrn |
G |
A |
16: 34,032,583 (GRCm39) |
T1155M |
probably benign |
Het |
| Kcna6 |
G |
A |
6: 126,716,022 (GRCm39) |
A289V |
probably benign |
Het |
| Kcnh5 |
T |
C |
12: 75,134,191 (GRCm39) |
M453V |
probably benign |
Het |
| Krt222 |
A |
G |
11: 99,131,320 (GRCm39) |
V75A |
possibly damaging |
Het |
| Lmtk3 |
A |
T |
7: 45,450,431 (GRCm39) |
T1432S |
unknown |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Ltbp3 |
C |
G |
19: 5,802,099 (GRCm39) |
N758K |
probably damaging |
Het |
| Map6d1 |
T |
A |
16: 20,055,377 (GRCm39) |
H153L |
possibly damaging |
Het |
| Mefv |
A |
G |
16: 3,528,782 (GRCm39) |
L583P |
probably damaging |
Het |
| Mrps28 |
T |
C |
3: 8,867,389 (GRCm39) |
T160A |
probably damaging |
Het |
| Mtcl2 |
T |
C |
2: 156,869,390 (GRCm39) |
K1082E |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,217,783 (GRCm39) |
T2297A |
possibly damaging |
Het |
| Mx1 |
G |
T |
16: 97,253,409 (GRCm39) |
D338E |
probably benign |
Het |
| Myom1 |
G |
A |
17: 71,399,204 (GRCm39) |
R1120H |
probably benign |
Het |
| Nif3l1 |
T |
C |
1: 58,487,074 (GRCm39) |
F87L |
probably benign |
Het |
| Or1e35 |
T |
A |
11: 73,797,713 (GRCm39) |
M202L |
probably benign |
Het |
| Or4p22 |
T |
C |
2: 88,317,373 (GRCm39) |
V99A |
possibly damaging |
Het |
| Pex10 |
T |
A |
4: 155,153,264 (GRCm39) |
L111Q |
probably damaging |
Het |
| Phf1 |
T |
C |
17: 27,154,130 (GRCm39) |
|
probably null |
Het |
| Pigp |
A |
T |
16: 94,166,278 (GRCm39) |
Y143* |
probably null |
Het |
| Pou2af2 |
A |
G |
9: 51,229,579 (GRCm39) |
|
probably null |
Het |
| Prrc2a |
A |
G |
17: 35,381,176 (GRCm39) |
|
probably null |
Het |
| Psd |
GCC |
GC |
19: 46,301,841 (GRCm39) |
|
probably null |
Het |
| Pum3 |
A |
G |
19: 27,403,412 (GRCm39) |
S30P |
probably benign |
Het |
| Rab12 |
A |
G |
17: 66,826,421 (GRCm39) |
S97P |
probably damaging |
Het |
| Rigi |
T |
C |
4: 40,220,437 (GRCm39) |
E482G |
possibly damaging |
Het |
| Ros1 |
A |
G |
10: 51,948,148 (GRCm39) |
|
probably null |
Het |
| Scp2 |
A |
T |
4: 107,948,519 (GRCm39) |
Y197N |
probably benign |
Het |
| Serpinb10 |
T |
C |
1: 107,474,488 (GRCm39) |
F217L |
possibly damaging |
Het |
| Shank3 |
T |
G |
15: 89,409,453 (GRCm39) |
M604R |
possibly damaging |
Het |
| Slc22a29 |
A |
G |
19: 8,184,488 (GRCm39) |
S238P |
probably benign |
Het |
| Smarcc1 |
A |
G |
9: 109,986,410 (GRCm39) |
D237G |
probably damaging |
Het |
| Stag3 |
T |
C |
5: 138,299,701 (GRCm39) |
S871P |
possibly damaging |
Het |
| Tmem132d |
A |
G |
5: 128,346,075 (GRCm39) |
F149S |
probably damaging |
Het |
| Tmem25 |
C |
T |
9: 44,706,515 (GRCm39) |
E333K |
|
Het |
| Togaram1 |
T |
A |
12: 65,066,082 (GRCm39) |
Y1695* |
probably null |
Het |
| Tox3 |
G |
A |
8: 90,984,574 (GRCm39) |
P202S |
probably damaging |
Het |
| Trim34b |
T |
A |
7: 103,980,474 (GRCm39) |
N187K |
probably benign |
Het |
| Vcan |
A |
G |
13: 89,841,081 (GRCm39) |
S1488P |
probably benign |
Het |
| Vps26a |
A |
C |
10: 62,305,791 (GRCm39) |
V124G |
probably benign |
Het |
| Vps50 |
T |
G |
6: 3,516,706 (GRCm39) |
S63A |
possibly damaging |
Het |
| Wbp4 |
T |
A |
14: 79,707,553 (GRCm39) |
E186V |
possibly damaging |
Het |
| Zfp52 |
A |
G |
17: 21,781,937 (GRCm39) |
D595G |
possibly damaging |
Het |
| Zfr2 |
C |
A |
10: 81,084,252 (GRCm39) |
S1* |
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 |
|
|
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 |
|
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 |
|
X0023:Impg2
|
UTSW |
16 |
56,080,239 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTCATGACCCTGCAGAAAGG -3'
(R):5'- TAAGCTATTCCCCAGGGCAG -3'
Sequencing Primer
(F):5'- CCCTGCAGAAAGGATAGTGTGATC -3'
(R):5'- GCCCACTCAGATCCTAACCTTCG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation