Incidental Mutation 'R8782:Impg2'
| ID |
670359 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Impg2
|
| Ensembl Gene |
ENSMUSG00000035270 |
| Gene Name |
interphotoreceptor matrix proteoglycan 2 |
| Synonyms |
IPM200, Spacrcan, PG10.2 |
| MMRRC Submission |
068630-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R8782 (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 56079818 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 541
(T541A)
|
| 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: T541A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000063648
Gene: ENSMUSG00000035270
AA Change: T541A
| 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: T432A
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125135
Gene: ENSMUSG00000035270
AA Change: T432A
| 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: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
99% (73/74) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
A |
G |
9: 55,910,242 (GRCm39) |
|
probably null |
Het |
| Abhd16b |
G |
T |
2: 181,136,208 (GRCm39) |
R370L |
probably benign |
Het |
| Acox2 |
T |
A |
14: 8,250,035 (GRCm38) |
T342S |
probably damaging |
Het |
| Adamts12 |
A |
T |
15: 11,237,678 (GRCm39) |
Q329L |
probably damaging |
Het |
| Aimp1 |
T |
C |
3: 132,373,242 (GRCm39) |
M233V |
possibly damaging |
Het |
| Atg16l1 |
A |
G |
1: 87,714,010 (GRCm39) |
T474A |
possibly damaging |
Het |
| Atp1a1 |
T |
C |
3: 101,501,533 (GRCm39) |
T57A |
possibly damaging |
Het |
| Bcat2 |
A |
G |
7: 45,234,917 (GRCm39) |
D205G |
probably benign |
Het |
| Brd1 |
G |
T |
15: 88,614,834 (GRCm39) |
C20* |
probably null |
Het |
| Camsap2 |
T |
C |
1: 136,204,957 (GRCm39) |
M519V |
|
Het |
| Caprin1 |
T |
A |
2: 103,603,133 (GRCm39) |
T477S |
probably benign |
Het |
| Cdk5rap2 |
G |
T |
4: 70,161,712 (GRCm39) |
Q1516K |
possibly damaging |
Het |
| Cep97 |
T |
C |
16: 55,726,084 (GRCm39) |
D673G |
probably benign |
Het |
| Chat |
A |
T |
14: 32,146,155 (GRCm39) |
D339E |
probably benign |
Het |
| Col28a1 |
G |
A |
6: 8,175,227 (GRCm39) |
S207F |
unknown |
Het |
| Commd10 |
T |
A |
18: 47,096,809 (GRCm39) |
L72Q |
probably damaging |
Het |
| Crim1 |
T |
C |
17: 78,508,306 (GRCm39) |
C37R |
probably damaging |
Het |
| Csgalnact1 |
T |
A |
8: 68,811,307 (GRCm39) |
K454N |
probably damaging |
Het |
| Ctif |
G |
T |
18: 75,654,868 (GRCm39) |
H219Q |
probably benign |
Het |
| Ddx10 |
A |
T |
9: 53,146,588 (GRCm39) |
F211L |
probably damaging |
Het |
| Dhrs2 |
A |
T |
14: 55,473,538 (GRCm39) |
I66F |
possibly damaging |
Het |
| Dmtf1 |
A |
T |
5: 9,179,168 (GRCm39) |
D343E |
probably damaging |
Het |
| Dync2i1 |
C |
T |
12: 116,205,332 (GRCm39) |
R419H |
probably damaging |
Het |
| Fam120b |
A |
T |
17: 15,622,472 (GRCm39) |
Q150L |
probably damaging |
Het |
| Fam217a |
G |
A |
13: 35,095,033 (GRCm39) |
P242L |
probably benign |
Het |
| Gcnt2 |
A |
G |
13: 41,072,229 (GRCm39) |
T291A |
probably damaging |
Het |
| Gm14305 |
T |
G |
2: 176,413,213 (GRCm39) |
C368W |
possibly damaging |
Het |
| Gpr158 |
A |
G |
2: 21,404,149 (GRCm39) |
D307G |
probably damaging |
Het |
| Hcls1 |
A |
G |
16: 36,777,663 (GRCm39) |
M261V |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,540,636 (GRCm39) |
M2891T |
probably benign |
Het |
| Ighv1-31 |
A |
T |
12: 114,793,305 (GRCm39) |
W5R |
possibly damaging |
Het |
| Ints1 |
A |
T |
5: 139,744,952 (GRCm39) |
L1452Q |
probably benign |
Het |
| Kcnc2 |
T |
A |
10: 112,292,437 (GRCm39) |
S542T |
probably benign |
Het |
| Kif18a |
C |
T |
2: 109,127,118 (GRCm39) |
R351C |
probably damaging |
Het |
| Lactbl1 |
T |
G |
4: 136,358,329 (GRCm39) |
L100R |
possibly damaging |
Het |
| Loxl3 |
T |
C |
6: 83,025,051 (GRCm39) |
S260P |
probably benign |
Het |
| Lrba |
A |
T |
3: 86,549,976 (GRCm39) |
Y2315F |
probably benign |
Het |
| Lrrc32 |
A |
T |
7: 98,148,270 (GRCm39) |
N350I |
probably damaging |
Het |
| Lyn |
C |
A |
4: 3,783,055 (GRCm39) |
F429L |
probably damaging |
Het |
| Matk |
A |
G |
10: 81,098,294 (GRCm39) |
K402E |
probably damaging |
Het |
| Mau2 |
T |
C |
8: 70,485,845 (GRCm39) |
E121G |
possibly damaging |
Het |
| Mrgprx2 |
A |
G |
7: 48,132,299 (GRCm39) |
L173P |
probably damaging |
Het |
| Mroh1 |
A |
G |
15: 76,298,496 (GRCm39) |
T369A |
possibly damaging |
Het |
| Myh6 |
A |
G |
14: 55,187,357 (GRCm39) |
L1308P |
possibly damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,459,873 (GRCm39) |
D1895G |
probably benign |
Het |
| Ncr1 |
A |
G |
7: 4,340,763 (GRCm39) |
T6A |
probably benign |
Het |
| Neb |
T |
A |
2: 52,078,785 (GRCm39) |
E5819D |
probably benign |
Het |
| Neurod4 |
T |
C |
10: 130,106,948 (GRCm39) |
N109D |
probably damaging |
Het |
| Nsd2 |
A |
T |
5: 34,000,485 (GRCm39) |
M1L |
probably benign |
Het |
| Nwd2 |
A |
G |
5: 63,882,540 (GRCm39) |
Y64C |
probably damaging |
Het |
| Olfm2 |
T |
A |
9: 20,579,501 (GRCm39) |
N417Y |
probably damaging |
Het |
| Oog3 |
T |
A |
4: 143,885,962 (GRCm39) |
D212V |
probably benign |
Het |
| Or13c25 |
T |
A |
4: 52,911,693 (GRCm39) |
M34L |
probably benign |
Het |
| Or5p1 |
A |
T |
7: 107,916,296 (GRCm39) |
H65L |
probably damaging |
Het |
| Parp1 |
A |
G |
1: 180,417,127 (GRCm39) |
K637R |
probably benign |
Het |
| Pcdhga3 |
T |
C |
18: 37,807,865 (GRCm39) |
L106P |
probably damaging |
Het |
| Pdk4 |
T |
C |
6: 5,494,962 (GRCm39) |
N67S |
possibly damaging |
Het |
| Plcxd3 |
A |
G |
15: 4,546,250 (GRCm39) |
T85A |
probably benign |
Het |
| Plxna1 |
T |
C |
6: 89,300,220 (GRCm39) |
Y1621C |
probably damaging |
Het |
| Pnliprp1 |
T |
A |
19: 58,719,025 (GRCm39) |
M108K |
probably damaging |
Het |
| Pou3f1 |
GCACCACCACCACCACCAC |
GCACCACCACCACCAC |
4: 124,552,807 (GRCm39) |
|
probably benign |
Het |
| Prl8a1 |
A |
T |
13: 27,758,011 (GRCm39) |
C233S |
probably damaging |
Het |
| R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
| Sgo2a |
T |
A |
1: 58,056,616 (GRCm39) |
|
probably benign |
Het |
| Sh3tc1 |
A |
T |
5: 35,871,548 (GRCm39) |
M328K |
possibly damaging |
Het |
| Sim1 |
A |
G |
10: 50,772,165 (GRCm39) |
E58G |
probably benign |
Het |
| Slc35e3 |
A |
G |
10: 117,580,798 (GRCm39) |
Y169H |
probably damaging |
Het |
| Slc8a1 |
T |
C |
17: 81,955,442 (GRCm39) |
D532G |
probably damaging |
Het |
| Speer4a1 |
T |
A |
5: 26,241,754 (GRCm39) |
H124L |
probably benign |
Het |
| Stab2 |
T |
A |
10: 86,735,685 (GRCm39) |
T1299S |
probably benign |
Het |
| Tesmin |
T |
C |
19: 3,445,965 (GRCm39) |
V237A |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,951,701 (GRCm39) |
I984N |
probably benign |
Het |
| Ube2q2 |
G |
A |
9: 55,070,354 (GRCm39) |
|
probably null |
Het |
| Vmn1r169 |
A |
G |
7: 23,277,403 (GRCm39) |
D265G |
possibly damaging |
Het |
| Vps13b |
G |
T |
15: 35,422,483 (GRCm39) |
V148L |
possibly damaging |
Het |
| Vwce |
T |
C |
19: 10,615,491 (GRCm39) |
V124A |
probably benign |
Het |
| Zc3h15 |
G |
A |
2: 83,491,787 (GRCm39) |
R292H |
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 |
|
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'- AGCCATTGTTCCTGGTAACTG -3'
(R):5'- GTCTCACTCCATGGCCAATC -3'
Sequencing Primer
(F):5'- CTGGTAACTGGAGAAAATAGATAGC -3'
(R):5'- AAGTCTTTTTCCACAGAGGTGTC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation