Incidental Mutation 'R4193:Impg2'
| ID |
318451 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Impg2
|
| Ensembl Gene |
ENSMUSG00000035270 |
| Gene Name |
interphotoreceptor matrix proteoglycan 2 |
| Synonyms |
IPM200, Spacrcan, PG10.2 |
| MMRRC Submission |
041024-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R4193 (G1)
|
| Quality Score |
214 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
56024676-56094119 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56088774 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1100
(D1100G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069936]
[ENSMUST00000160116]
|
| AlphaFold |
Q80XH2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069936
AA Change: D1209G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000063648
Gene: ENSMUSG00000035270
AA Change: D1209G
| 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 |
noncoding transcript
Transcript: ENSMUST00000159842
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160116
AA Change: D1100G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000125135
Gene: ENSMUSG00000035270
AA Change: D1100G
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
G |
T |
14: 35,818,536 (GRCm39) |
R178L |
possibly damaging |
Het |
| Abcb1a |
G |
A |
5: 8,765,068 (GRCm39) |
|
probably null |
Het |
| Acap3 |
A |
G |
4: 155,986,234 (GRCm39) |
T285A |
probably benign |
Het |
| Adam20 |
A |
T |
8: 41,248,352 (GRCm39) |
N154I |
probably damaging |
Het |
| Adamts8 |
A |
T |
9: 30,870,604 (GRCm39) |
D693V |
probably damaging |
Het |
| Ak9 |
A |
G |
10: 41,211,941 (GRCm39) |
H226R |
probably benign |
Het |
| Atp6v1b1 |
A |
G |
6: 83,720,085 (GRCm39) |
S7G |
probably benign |
Het |
| Atxn7l3b |
C |
A |
10: 112,764,610 (GRCm39) |
L6F |
probably damaging |
Het |
| Bco1 |
C |
T |
8: 117,840,208 (GRCm39) |
T242M |
probably damaging |
Het |
| Btla |
A |
G |
16: 45,070,845 (GRCm39) |
N268S |
probably benign |
Het |
| Capn9 |
A |
G |
8: 125,327,225 (GRCm39) |
S292G |
probably null |
Het |
| Cdhr18 |
C |
T |
14: 13,914,416 (GRCm38) |
V9I |
probably benign |
Het |
| Col7a1 |
G |
A |
9: 108,785,740 (GRCm39) |
S403N |
unknown |
Het |
| Ctps1 |
A |
G |
4: 120,405,335 (GRCm39) |
V369A |
probably damaging |
Het |
| Ddx19b |
A |
T |
8: 111,737,980 (GRCm39) |
L256Q |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,486,493 (GRCm39) |
K3356R |
probably benign |
Het |
| Dpf2 |
G |
A |
19: 5,957,044 (GRCm39) |
R60* |
probably null |
Het |
| Eif3h |
A |
T |
15: 51,662,695 (GRCm39) |
V117E |
probably damaging |
Het |
| Fam234a |
A |
T |
17: 26,432,834 (GRCm39) |
L467Q |
probably damaging |
Het |
| Fez1 |
T |
A |
9: 36,755,023 (GRCm39) |
S7R |
probably damaging |
Het |
| Fh1 |
T |
A |
1: 175,442,407 (GRCm39) |
M148L |
possibly damaging |
Het |
| Gabra2 |
G |
A |
5: 71,165,341 (GRCm39) |
P210S |
probably benign |
Het |
| Gfm1 |
T |
G |
3: 67,339,053 (GRCm39) |
I52S |
probably damaging |
Het |
| Gm6729 |
A |
T |
10: 86,376,483 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr152 |
T |
G |
19: 4,192,906 (GRCm39) |
L149R |
probably damaging |
Het |
| H2bc27 |
T |
A |
11: 58,840,067 (GRCm39) |
L101Q |
probably damaging |
Het |
| Ifnar2 |
A |
T |
16: 91,201,232 (GRCm39) |
D491V |
probably damaging |
Het |
| Igkv14-126 |
T |
C |
6: 67,873,367 (GRCm39) |
S32P |
possibly damaging |
Het |
| Il1rl2 |
A |
G |
1: 40,404,208 (GRCm39) |
E443G |
probably damaging |
Het |
| Itga2 |
G |
A |
13: 115,023,185 (GRCm39) |
R56* |
probably null |
Het |
| Itga2b |
A |
G |
11: 102,360,511 (GRCm39) |
S10P |
probably benign |
Het |
| Jmjd1c |
C |
T |
10: 66,932,460 (GRCm39) |
|
probably benign |
Het |
| Kdm7a |
T |
G |
6: 39,146,030 (GRCm39) |
K299T |
probably damaging |
Het |
| Large2 |
T |
A |
2: 92,195,704 (GRCm39) |
D632V |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,297,487 (GRCm39) |
C3158Y |
probably damaging |
Het |
| Malt1 |
T |
A |
18: 65,580,746 (GRCm39) |
D213E |
probably benign |
Het |
| Nkapl |
T |
C |
13: 21,651,512 (GRCm39) |
Q367R |
probably benign |
Het |
| Nwd2 |
T |
C |
5: 63,964,808 (GRCm39) |
L1464P |
probably damaging |
Het |
| Or1e25 |
C |
G |
11: 73,494,243 (GRCm39) |
T279R |
probably damaging |
Het |
| Or2y1 |
A |
C |
11: 49,386,134 (GRCm39) |
Y258S |
probably damaging |
Het |
| Or7a40 |
A |
T |
16: 16,491,511 (GRCm39) |
D111E |
possibly damaging |
Het |
| Or8u10 |
T |
A |
2: 85,916,044 (GRCm39) |
I26F |
probably benign |
Het |
| Or9g20 |
C |
T |
2: 85,630,362 (GRCm39) |
C84Y |
probably benign |
Het |
| P2ry2 |
A |
G |
7: 100,647,657 (GRCm39) |
V216A |
probably benign |
Het |
| Pcdhb1 |
A |
G |
18: 37,400,199 (GRCm39) |
K717E |
probably damaging |
Het |
| Pcdhgb8 |
G |
C |
18: 37,896,594 (GRCm39) |
D555H |
probably damaging |
Het |
| Pcsk6 |
T |
C |
7: 65,675,056 (GRCm39) |
S476P |
probably damaging |
Het |
| Phactr3 |
T |
A |
2: 177,924,945 (GRCm39) |
H293Q |
probably damaging |
Het |
| Pias1 |
T |
C |
9: 62,859,286 (GRCm39) |
D74G |
possibly damaging |
Het |
| Plekhg6 |
T |
C |
6: 125,350,081 (GRCm39) |
T286A |
probably benign |
Het |
| Pramel23 |
A |
T |
4: 143,424,903 (GRCm39) |
L180Q |
probably damaging |
Het |
| Prkag2 |
A |
C |
5: 25,083,758 (GRCm39) |
M75R |
probably damaging |
Het |
| Prl7c1 |
T |
A |
13: 27,960,261 (GRCm39) |
M94L |
probably benign |
Het |
| Prodh |
C |
T |
16: 17,891,504 (GRCm39) |
V480I |
probably benign |
Het |
| Ptprn2 |
A |
G |
12: 116,864,628 (GRCm39) |
I548V |
probably benign |
Het |
| Ptprr |
T |
C |
10: 116,088,769 (GRCm39) |
W307R |
probably damaging |
Het |
| Rab29 |
T |
C |
1: 131,797,700 (GRCm39) |
S52P |
possibly damaging |
Het |
| Ralgapa2 |
A |
G |
2: 146,184,493 (GRCm39) |
F1505L |
probably damaging |
Het |
| Scn8a |
C |
T |
15: 100,869,484 (GRCm39) |
A209V |
probably damaging |
Het |
| Senp2 |
G |
T |
16: 21,865,417 (GRCm39) |
W580L |
probably damaging |
Het |
| Septin4 |
A |
T |
11: 87,474,142 (GRCm39) |
|
probably null |
Het |
| Slc17a5 |
C |
A |
9: 78,466,388 (GRCm39) |
V269L |
possibly damaging |
Het |
| Slc2a9 |
T |
C |
5: 38,556,049 (GRCm39) |
N299S |
probably damaging |
Het |
| Slc41a2 |
T |
A |
10: 83,137,085 (GRCm39) |
H274L |
probably damaging |
Het |
| Suco |
A |
T |
1: 161,691,528 (GRCm39) |
D43E |
probably benign |
Het |
| Tacr2 |
T |
A |
10: 62,088,958 (GRCm39) |
I121N |
probably damaging |
Het |
| Tanc2 |
G |
A |
11: 105,804,888 (GRCm39) |
|
probably benign |
Het |
| Tbl1xr1 |
T |
C |
3: 22,254,522 (GRCm39) |
F322L |
possibly damaging |
Het |
| Tdrd1 |
T |
A |
19: 56,839,773 (GRCm39) |
L611* |
probably null |
Het |
| Tgfbr2 |
T |
C |
9: 115,939,009 (GRCm39) |
T298A |
probably damaging |
Het |
| Tmprss12 |
T |
C |
15: 100,187,185 (GRCm39) |
V217A |
probably damaging |
Het |
| Ttbk1 |
A |
T |
17: 46,790,173 (GRCm39) |
C91S |
probably damaging |
Het |
| Vit |
A |
G |
17: 78,894,255 (GRCm39) |
H219R |
probably benign |
Het |
| Vmn1r71 |
A |
T |
7: 10,482,175 (GRCm39) |
I105K |
possibly damaging |
Het |
| Vmn2r57 |
A |
G |
7: 41,077,663 (GRCm39) |
F168L |
probably benign |
Het |
| Zfp945 |
C |
T |
17: 23,070,144 (GRCm39) |
|
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 |
|
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'- ATTTGAGCATCCAGAGGAGAGC -3'
(R):5'- GGCTTGAAGCTCAAATTTTAATGCC -3'
Sequencing Primer
(F):5'- TTTTGCAGCTCCAGCAGG -3'
(R):5'- GAAGCTCAAATTTTAATGCCCCCTG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation