Incidental Mutation 'R7226:Impg2'
| ID |
562188 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Impg2
|
| Ensembl Gene |
ENSMUSG00000035270 |
| Gene Name |
interphotoreceptor matrix proteoglycan 2 |
| Synonyms |
IPM200, Spacrcan, PG10.2 |
| MMRRC Submission |
045298-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R7226 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
56204313-56273756 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 56267104 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 1095
(C1095*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063648
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069936]
[ENSMUST00000160116]
|
| AlphaFold |
Q80XH2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000069936
AA Change: C1095*
|
| SMART Domains |
Protein: ENSMUSP00000063648
Gene: ENSMUSG00000035270
AA Change: C1095*
| 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 null
Transcript: ENSMUST00000160116
AA Change: C986*
|
| SMART Domains |
Protein: ENSMUSP00000125135
Gene: ENSMUSG00000035270
AA Change: C986*
| 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: 99.7%
- 20x: 99.1%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700025B11Rik |
C |
T |
15: 77,558,989 (GRCm38) |
V17I |
unknown |
Het |
| Acad8 |
T |
A |
9: 26,978,430 (GRCm38) |
K323* |
probably null |
Het |
| Adam18 |
A |
T |
8: 24,647,808 (GRCm38) |
C339S |
probably damaging |
Het |
| Anxa7 |
A |
G |
14: 20,460,195 (GRCm38) |
F396L |
probably damaging |
Het |
| Ap2m1 |
T |
A |
16: 20,539,451 (GRCm38) |
V73D |
probably damaging |
Het |
| Asic2 |
A |
T |
11: 80,971,514 (GRCm38) |
I270N |
probably damaging |
Het |
| Atrn |
T |
G |
2: 130,986,744 (GRCm38) |
C1070G |
probably damaging |
Het |
| Bag6 |
A |
G |
17: 35,142,945 (GRCm38) |
N517S |
unknown |
Het |
| Bhmt1b |
A |
G |
18: 87,757,466 (GRCm38) |
D371G |
possibly damaging |
Het |
| Bltp3b |
A |
T |
10: 89,808,641 (GRCm38) |
Q1181L |
probably benign |
Het |
| Cavin1 |
A |
C |
11: 100,970,458 (GRCm38) |
D3E |
probably benign |
Het |
| Cc2d2b |
T |
C |
19: 40,791,307 (GRCm38) |
L571P |
unknown |
Het |
| Ccbe1 |
A |
T |
18: 66,083,128 (GRCm38) |
C175S |
probably damaging |
Het |
| Cd19 |
A |
G |
7: 126,414,823 (GRCm38) |
L5P |
unknown |
Het |
| Cd46 |
A |
G |
1: 195,042,006 (GRCm38) |
S362P |
possibly damaging |
Het |
| Celf5 |
A |
G |
10: 81,468,029 (GRCm38) |
S198P |
probably damaging |
Het |
| Cep170b |
A |
G |
12: 112,737,925 (GRCm38) |
R706G |
possibly damaging |
Het |
| Chd3 |
G |
T |
11: 69,369,211 (GRCm38) |
R61S |
unknown |
Het |
| Cpsf6 |
A |
C |
10: 117,361,822 (GRCm38) |
W253G |
unknown |
Het |
| Cyp27a1 |
G |
A |
1: 74,737,348 (GRCm38) |
G481D |
probably damaging |
Het |
| Ddr1 |
C |
T |
17: 35,691,147 (GRCm38) |
D218N |
possibly damaging |
Het |
| Dhx34 |
A |
T |
7: 16,198,876 (GRCm38) |
V1046D |
probably damaging |
Het |
| Dhx9 |
A |
T |
1: 153,465,677 (GRCm38) |
D608E |
probably benign |
Het |
| Dnajc6 |
C |
A |
4: 101,639,372 (GRCm38) |
A912E |
probably damaging |
Het |
| Ehmt1 |
T |
C |
2: 24,804,782 (GRCm38) |
D1051G |
probably damaging |
Het |
| Fam217b |
C |
A |
2: 178,421,203 (GRCm38) |
A320E |
probably benign |
Het |
| Farsa |
T |
A |
8: 84,864,060 (GRCm38) |
I169N |
probably benign |
Het |
| Fbn2 |
A |
G |
18: 58,037,070 (GRCm38) |
C2210R |
probably damaging |
Het |
| Fbxo3 |
T |
A |
2: 104,050,297 (GRCm38) |
S251T |
probably benign |
Het |
| Fer1l6 |
C |
T |
15: 58,590,535 (GRCm38) |
T813I |
probably benign |
Het |
| Ftl1-ps1 |
A |
T |
13: 74,406,995 (GRCm38) |
E131V |
probably damaging |
Het |
| Gins3 |
T |
A |
8: 95,637,871 (GRCm38) |
I83N |
probably damaging |
Het |
| Gja3 |
T |
C |
14: 57,035,893 (GRCm38) |
T341A |
probably benign |
Het |
| Gja5 |
A |
G |
3: 97,050,858 (GRCm38) |
Y77C |
probably damaging |
Het |
| Gm7247 |
A |
G |
14: 51,365,351 (GRCm38) |
K48R |
probably damaging |
Het |
| Gsx2 |
C |
A |
5: 75,075,960 (GRCm38) |
S67* |
probably null |
Het |
| H2-Q5 |
T |
A |
17: 35,397,113 (GRCm38) |
L217Q |
|
Het |
| Itga7 |
G |
T |
10: 128,940,932 (GRCm38) |
W222L |
probably damaging |
Het |
| Kdm2b |
T |
A |
5: 122,921,449 (GRCm38) |
D530V |
possibly damaging |
Het |
| Klhdc8a |
A |
T |
1: 132,302,606 (GRCm38) |
D153V |
probably damaging |
Het |
| Lin28a |
C |
T |
4: 134,006,308 (GRCm38) |
G143S |
probably damaging |
Het |
| Memo1 |
A |
G |
17: 74,202,343 (GRCm38) |
L227S |
probably damaging |
Het |
| Mettl27 |
T |
A |
5: 134,935,803 (GRCm38) |
V138E |
probably damaging |
Het |
| Mov10 |
G |
T |
3: 104,801,012 (GRCm38) |
L474I |
probably damaging |
Het |
| Nat10 |
T |
C |
2: 103,726,753 (GRCm38) |
N852S |
probably benign |
Het |
| Nfkbie |
T |
C |
17: 45,559,227 (GRCm38) |
V166A |
possibly damaging |
Het |
| Nktr |
T |
C |
9: 121,746,533 (GRCm38) |
M369T |
probably damaging |
Het |
| Nlrp9a |
A |
T |
7: 26,558,724 (GRCm38) |
N589I |
probably benign |
Het |
| Nrn1 |
G |
A |
13: 36,730,603 (GRCm38) |
R8C |
probably benign |
Het |
| Nrsn1 |
A |
G |
13: 25,253,468 (GRCm38) |
I159T |
probably damaging |
Het |
| Or1e29 |
A |
G |
11: 73,776,677 (GRCm38) |
S217P |
possibly damaging |
Het |
| Or2h15 |
C |
T |
17: 38,130,433 (GRCm38) |
G253D |
probably benign |
Het |
| Or5p61 |
A |
T |
7: 108,158,957 (GRCm38) |
D305E |
probably benign |
Het |
| Or6c88 |
G |
A |
10: 129,570,715 (GRCm38) |
G20D |
probably benign |
Het |
| Osbp |
T |
A |
19: 11,978,667 (GRCm38) |
D385E |
probably benign |
Het |
| Pan3 |
T |
A |
5: 147,526,992 (GRCm38) |
N547K |
probably damaging |
Het |
| Pip4p2 |
T |
A |
4: 14,892,464 (GRCm38) |
D109E |
probably damaging |
Het |
| Pum1 |
C |
A |
4: 130,771,981 (GRCm38) |
T1036K |
probably damaging |
Het |
| Rad54l2 |
C |
A |
9: 106,713,472 (GRCm38) |
R485L |
probably damaging |
Het |
| Rps26 |
A |
T |
10: 128,625,218 (GRCm38) |
F101I |
unknown |
Het |
| Sdsl |
T |
C |
5: 120,460,637 (GRCm38) |
N138S |
probably benign |
Het |
| Slc28a2b |
C |
A |
2: 122,522,532 (GRCm38) |
R453S |
probably benign |
Het |
| Slc39a6 |
A |
T |
18: 24,584,027 (GRCm38) |
H649Q |
probably damaging |
Het |
| Snip1 |
T |
A |
4: 125,071,480 (GRCm38) |
F226Y |
probably benign |
Het |
| Srrd |
T |
C |
5: 112,337,456 (GRCm38) |
T334A |
unknown |
Het |
| St14 |
C |
T |
9: 31,100,152 (GRCm38) |
D448N |
possibly damaging |
Het |
| Tmem270 |
T |
A |
5: 134,901,684 (GRCm38) |
Q241L |
probably benign |
Het |
| Tubb4b |
T |
C |
2: 25,224,168 (GRCm38) |
D41G |
probably benign |
Het |
| Usf3 |
T |
C |
16: 44,220,005 (GRCm38) |
M1616T |
possibly damaging |
Het |
| Vmn2r95 |
A |
T |
17: 18,451,983 (GRCm38) |
I733F |
possibly damaging |
Het |
| Zfp976 |
A |
T |
7: 42,613,260 (GRCm38) |
C385* |
probably null |
Het |
|
| Other mutations in Impg2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00542:Impg2
|
APN |
16 |
56,261,605 (GRCm38) |
nonsense |
probably null |
|
|
IGL01097:Impg2
|
APN |
16 |
56,260,647 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01115:Impg2
|
APN |
16 |
56,259,440 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
IGL01545:Impg2
|
APN |
16 |
56,225,717 (GRCm38) |
splice site |
probably benign |
|
|
IGL01644:Impg2
|
APN |
16 |
56,259,870 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL01690:Impg2
|
APN |
16 |
56,205,205 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL01781:Impg2
|
APN |
16 |
56,252,225 (GRCm38) |
missense |
probably benign |
0.21 |
|
IGL01801:Impg2
|
APN |
16 |
56,236,748 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL01980:Impg2
|
APN |
16 |
56,221,527 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02059:Impg2
|
APN |
16 |
56,259,972 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02140:Impg2
|
APN |
16 |
56,259,468 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL02206:Impg2
|
APN |
16 |
56,259,597 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL02245:Impg2
|
APN |
16 |
56,269,082 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02584:Impg2
|
APN |
16 |
56,265,011 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03061:Impg2
|
APN |
16 |
56,268,416 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03123:Impg2
|
APN |
16 |
56,267,122 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03280:Impg2
|
APN |
16 |
56,268,268 (GRCm38) |
nonsense |
probably null |
|
|
R0051:Impg2
|
UTSW |
16 |
56,258,048 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0117:Impg2
|
UTSW |
16 |
56,261,642 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0193:Impg2
|
UTSW |
16 |
56,265,049 (GRCm38) |
nonsense |
probably null |
|
|
R0270:Impg2
|
UTSW |
16 |
56,269,015 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R0326:Impg2
|
UTSW |
16 |
56,260,485 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0330:Impg2
|
UTSW |
16 |
56,252,264 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0812:Impg2
|
UTSW |
16 |
56,257,939 (GRCm38) |
intron |
probably benign |
|
|
R1074:Impg2
|
UTSW |
16 |
56,265,178 (GRCm38) |
splice site |
probably benign |
|
|
R1283:Impg2
|
UTSW |
16 |
56,257,939 (GRCm38) |
intron |
probably benign |
|
|
R1618:Impg2
|
UTSW |
16 |
56,259,858 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1708:Impg2
|
UTSW |
16 |
56,265,078 (GRCm38) |
missense |
probably benign |
0.10 |
|
R1713:Impg2
|
UTSW |
16 |
56,260,526 (GRCm38) |
missense |
probably benign |
0.25 |
|
R1827:Impg2
|
UTSW |
16 |
56,267,220 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R1853:Impg2
|
UTSW |
16 |
56,260,277 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2064:Impg2
|
UTSW |
16 |
56,243,630 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2100:Impg2
|
UTSW |
16 |
56,231,385 (GRCm38) |
splice site |
probably null |
|
|
R2125:Impg2
|
UTSW |
16 |
56,265,064 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2128:Impg2
|
UTSW |
16 |
56,218,379 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2195:Impg2
|
UTSW |
16 |
56,260,134 (GRCm38) |
missense |
probably benign |
0.39 |
|
R2247:Impg2
|
UTSW |
16 |
56,268,264 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2366:Impg2
|
UTSW |
16 |
56,259,873 (GRCm38) |
missense |
probably benign |
0.04 |
|
R2411:Impg2
|
UTSW |
16 |
56,252,154 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4193:Impg2
|
UTSW |
16 |
56,268,411 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4356:Impg2
|
UTSW |
16 |
56,260,164 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4424:Impg2
|
UTSW |
16 |
56,260,025 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R4575:Impg2
|
UTSW |
16 |
56,261,732 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4766:Impg2
|
UTSW |
16 |
56,257,939 (GRCm38) |
intron |
probably benign |
|
|
R5024:Impg2
|
UTSW |
16 |
56,260,100 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5278:Impg2
|
UTSW |
16 |
56,221,517 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5383:Impg2
|
UTSW |
16 |
56,243,626 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5766:Impg2
|
UTSW |
16 |
56,259,820 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R5909:Impg2
|
UTSW |
16 |
56,258,136 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6525:Impg2
|
UTSW |
16 |
56,205,149 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6684:Impg2
|
UTSW |
16 |
56,259,929 (GRCm38) |
missense |
probably benign |
0.33 |
|
R6692:Impg2
|
UTSW |
16 |
56,252,333 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6711:Impg2
|
UTSW |
16 |
56,265,086 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6909:Impg2
|
UTSW |
16 |
56,204,584 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6959:Impg2
|
UTSW |
16 |
56,268,330 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7456:Impg2
|
UTSW |
16 |
56,259,913 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7528:Impg2
|
UTSW |
16 |
56,260,380 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R7532:Impg2
|
UTSW |
16 |
56,267,180 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7601:Impg2
|
UTSW |
16 |
56,260,031 (GRCm38) |
missense |
probably benign |
0.22 |
|
R7803:Impg2
|
UTSW |
16 |
56,267,150 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8063:Impg2
|
UTSW |
16 |
56,261,456 (GRCm38) |
intron |
probably benign |
|
|
R8251:Impg2
|
UTSW |
16 |
56,259,597 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8292:Impg2
|
UTSW |
16 |
56,260,626 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8481:Impg2
|
UTSW |
16 |
56,252,266 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R8524:Impg2
|
UTSW |
16 |
56,218,394 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8782:Impg2
|
UTSW |
16 |
56,259,455 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8795:Impg2
|
UTSW |
16 |
56,260,248 (GRCm38) |
missense |
probably benign |
0.25 |
|
R8901:Impg2
|
UTSW |
16 |
56,252,165 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9243:Impg2
|
UTSW |
16 |
56,231,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9352:Impg2
|
UTSW |
16 |
56,252,107 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9645:Impg2
|
UTSW |
16 |
56,218,404 (GRCm38) |
missense |
probably damaging |
0.99 |
|
X0023:Impg2
|
UTSW |
16 |
56,259,876 (GRCm38) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACAGGCTTTTGTTATATGCTC -3'
(R):5'- AAACAGGCATTCAGTTCCATTAGG -3'
Sequencing Primer
(F):5'- CCTGTTATGCTGGGAATGGAACC -3'
(R):5'- GAAGCTCTTCCTTACCTGGTGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation