Incidental Mutation 'R7532:Impg2'
| ID |
583390 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Impg2
|
| Ensembl Gene |
ENSMUSG00000035270 |
| Gene Name |
interphotoreceptor matrix proteoglycan 2 |
| Synonyms |
IPM200, Spacrcan, PG10.2 |
| MMRRC Submission |
045604-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R7532 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
56024676-56094119 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 56087543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 1121
(A1121T)
|
| 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: A1121T
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000063648
Gene: ENSMUSG00000035270
AA Change: A1121T
| 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: A1012T
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125135
Gene: ENSMUSG00000035270
AA Change: A1012T
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add3 |
T |
A |
19: 53,220,589 (GRCm39) |
I174K |
probably damaging |
Het |
| Ano2 |
A |
T |
6: 125,940,667 (GRCm39) |
I597F |
probably damaging |
Het |
| Ap1g1 |
T |
C |
8: 110,586,796 (GRCm39) |
V813A |
probably damaging |
Het |
| Bpnt1 |
A |
T |
1: 185,084,523 (GRCm39) |
I207F |
possibly damaging |
Het |
| Brinp3 |
T |
A |
1: 146,777,139 (GRCm39) |
W529R |
probably damaging |
Het |
| C2cd2l |
C |
T |
9: 44,226,681 (GRCm39) |
R355Q |
probably benign |
Het |
| Ccser1 |
T |
A |
6: 62,356,915 (GRCm39) |
C784* |
probably null |
Het |
| Cdh20 |
A |
T |
1: 110,065,889 (GRCm39) |
D721V |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,721,193 (GRCm39) |
I994V |
unknown |
Het |
| Cst13 |
T |
G |
2: 148,665,127 (GRCm39) |
Y41D |
probably benign |
Het |
| Cyth2 |
C |
T |
7: 45,457,448 (GRCm39) |
A342T |
probably benign |
Het |
| Dapk1 |
T |
C |
13: 60,878,700 (GRCm39) |
L563P |
probably damaging |
Het |
| Dclk3 |
T |
G |
9: 111,296,596 (GRCm39) |
S47A |
probably benign |
Het |
| Dync1h1 |
C |
A |
12: 110,618,011 (GRCm39) |
N3183K |
probably benign |
Het |
| Enpp1 |
C |
T |
10: 24,551,885 (GRCm39) |
V165M |
probably benign |
Het |
| Ephx3 |
T |
C |
17: 32,407,763 (GRCm39) |
N173S |
possibly damaging |
Het |
| Erc1 |
T |
A |
6: 119,756,592 (GRCm39) |
D388V |
probably benign |
Het |
| Esp34 |
T |
G |
17: 38,870,511 (GRCm39) |
V135G |
possibly damaging |
Het |
| Gfy |
G |
A |
7: 44,827,461 (GRCm39) |
P212S |
probably damaging |
Het |
| Gm5239 |
C |
T |
18: 35,669,795 (GRCm39) |
R54C |
probably benign |
Het |
| Gtpbp3 |
T |
C |
8: 71,942,107 (GRCm39) |
F113L |
probably benign |
Het |
| Hectd1 |
T |
A |
12: 51,837,233 (GRCm39) |
D775V |
probably damaging |
Het |
| Ifrd2 |
T |
G |
9: 107,469,721 (GRCm39) |
S431R |
probably damaging |
Het |
| Irx1 |
A |
G |
13: 72,108,314 (GRCm39) |
F123L |
possibly damaging |
Het |
| Itgb6 |
C |
T |
2: 60,499,557 (GRCm39) |
V79I |
probably benign |
Het |
| Kcnd3 |
G |
A |
3: 105,575,526 (GRCm39) |
R550H |
probably damaging |
Het |
| Klhl9 |
A |
T |
4: 88,639,090 (GRCm39) |
S384T |
possibly damaging |
Het |
| Kng2 |
T |
C |
16: 22,845,794 (GRCm39) |
|
probably null |
Het |
| Lipo3 |
T |
C |
19: 33,560,464 (GRCm39) |
N67S |
possibly damaging |
Het |
| Mgst1 |
T |
C |
6: 138,130,504 (GRCm39) |
S78P |
probably benign |
Het |
| Ms4a14 |
A |
G |
19: 11,281,323 (GRCm39) |
Y412H |
possibly damaging |
Het |
| Mucl2 |
A |
C |
15: 103,926,318 (GRCm39) |
I124S |
unknown |
Het |
| Myh3 |
A |
G |
11: 66,981,921 (GRCm39) |
M806V |
probably benign |
Het |
| Nelfcd |
T |
C |
2: 174,268,189 (GRCm39) |
L501P |
probably damaging |
Het |
| Nlrp6 |
C |
A |
7: 140,505,097 (GRCm39) |
P748Q |
probably benign |
Het |
| Or1j13 |
C |
T |
2: 36,370,138 (GRCm39) |
M1I |
probably null |
Het |
| Or6n2 |
T |
C |
1: 173,897,664 (GRCm39) |
S267P |
probably benign |
Het |
| Plxna2 |
G |
A |
1: 194,327,127 (GRCm39) |
A354T |
probably benign |
Het |
| Prpf39 |
G |
T |
12: 65,100,145 (GRCm39) |
V273L |
probably benign |
Het |
| Rad9a |
T |
C |
19: 4,251,522 (GRCm39) |
|
probably benign |
Het |
| Rnf135 |
A |
G |
11: 80,089,732 (GRCm39) |
D356G |
probably benign |
Het |
| Rragd |
G |
T |
4: 33,004,166 (GRCm39) |
A153S |
possibly damaging |
Het |
| Selenot |
G |
T |
3: 58,492,653 (GRCm39) |
V47L |
probably benign |
Het |
| Smc2 |
T |
C |
4: 52,451,013 (GRCm39) |
L277P |
probably damaging |
Het |
| Sp7 |
A |
G |
15: 102,267,584 (GRCm39) |
F92S |
possibly damaging |
Het |
| Spata1 |
A |
T |
3: 146,173,946 (GRCm39) |
I380N |
possibly damaging |
Het |
| Spdye4b |
G |
T |
5: 143,180,652 (GRCm39) |
R39S |
possibly damaging |
Het |
| Spmip9 |
T |
C |
6: 70,890,621 (GRCm39) |
K57R |
probably benign |
Het |
| Stom |
C |
A |
2: 35,211,589 (GRCm39) |
R144L |
possibly damaging |
Het |
| Tsc22d1 |
T |
C |
14: 76,653,486 (GRCm39) |
|
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,249,565 (GRCm39) |
T998A |
probably benign |
Het |
| Vcl |
C |
A |
14: 21,079,392 (GRCm39) |
A965D |
probably damaging |
Het |
| Vmn1r69 |
A |
T |
7: 10,314,281 (GRCm39) |
V150D |
probably damaging |
Het |
| Vmn1r90 |
T |
G |
7: 14,295,189 (GRCm39) |
N303T |
possibly damaging |
Het |
| Vmn2r69 |
A |
T |
7: 85,059,622 (GRCm39) |
M429K |
probably benign |
Het |
| Vmn2r8 |
T |
A |
5: 108,950,106 (GRCm39) |
Y247F |
probably benign |
Het |
| Washc5 |
A |
T |
15: 59,239,260 (GRCm39) |
S168T |
possibly damaging |
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 |
|
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'- ACTCCCTTCAAGACCTTAATGAAG -3'
(R):5'- AACTCTTGGCTTTCACCCAG -3'
Sequencing Primer
(F):5'- GACCTTAATGAAGATTTACACGACC -3'
(R):5'- AGCTCTTTGCCCAGTATTTGGC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation