Incidental Mutation 'R8901:Impg2'
| ID |
679984 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Impg2
|
| Ensembl Gene |
ENSMUSG00000035270 |
| Gene Name |
interphotoreceptor matrix proteoglycan 2 |
| Synonyms |
IPM200, Spacrcan, PG10.2 |
| MMRRC Submission |
068758-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R8901 (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 T
at 56072528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 320
(D320V)
|
| 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: D320V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000063648
Gene: ENSMUSG00000035270
AA Change: D320V
| 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 |
possibly damaging
Transcript: ENSMUST00000160116
AA Change: D320V
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000125135
Gene: ENSMUSG00000035270
AA Change: D320V
| 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: 99.4%
- 20x: 97.8%
|
| Validation Efficiency |
100% (53/53) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprm |
T |
C |
11: 66,932,564 (GRCm39) |
N115S |
probably damaging |
Het |
| Agbl5 |
T |
C |
5: 31,048,435 (GRCm39) |
V169A |
possibly damaging |
Het |
| Ajuba |
T |
C |
14: 54,807,830 (GRCm39) |
|
probably benign |
Het |
| Ankrd27 |
G |
A |
7: 35,332,243 (GRCm39) |
|
probably benign |
Het |
| Brat1 |
T |
A |
5: 140,698,608 (GRCm39) |
M260K |
probably benign |
Het |
| Btbd6 |
G |
T |
12: 112,940,220 (GRCm39) |
|
probably benign |
Het |
| Cenpf |
C |
T |
1: 189,394,248 (GRCm39) |
G503S |
probably benign |
Het |
| Ces1e |
C |
T |
8: 93,937,103 (GRCm39) |
D323N |
probably damaging |
Het |
| Chrna5 |
T |
C |
9: 54,911,737 (GRCm39) |
F75S |
probably damaging |
Het |
| Clmn |
A |
T |
12: 104,747,211 (GRCm39) |
S779T |
probably benign |
Het |
| Cntnap5c |
T |
A |
17: 58,637,156 (GRCm39) |
M1011K |
probably benign |
Het |
| Col11a2 |
A |
T |
17: 34,262,254 (GRCm39) |
I164F |
probably damaging |
Het |
| Daw1 |
A |
C |
1: 83,183,643 (GRCm39) |
K231T |
possibly damaging |
Het |
| Dnah5 |
T |
G |
15: 28,365,715 (GRCm39) |
M2637R |
possibly damaging |
Het |
| Dsp |
G |
A |
13: 38,365,155 (GRCm39) |
V513M |
probably damaging |
Het |
| Eea1 |
T |
G |
10: 95,825,431 (GRCm39) |
I42R |
probably damaging |
Het |
| Ehd4 |
A |
T |
2: 119,932,805 (GRCm39) |
I207N |
probably damaging |
Het |
| F11 |
T |
C |
8: 45,701,851 (GRCm39) |
T320A |
probably benign |
Het |
| Fhdc1 |
T |
A |
3: 84,352,874 (GRCm39) |
M784L |
probably benign |
Het |
| Gm21411 |
G |
A |
4: 146,982,171 (GRCm39) |
Q10* |
probably null |
Het |
| Gnao1 |
T |
C |
8: 94,694,687 (GRCm39) |
M70T |
probably benign |
Het |
| Gtf2i |
A |
G |
5: 134,324,389 (GRCm39) |
F25S |
probably damaging |
Het |
| H2-T3 |
A |
T |
17: 36,498,252 (GRCm39) |
D220E |
probably damaging |
Het |
| Hnrnpul2 |
T |
G |
19: 8,801,809 (GRCm39) |
L339R |
probably damaging |
Het |
| Itga2b |
A |
T |
11: 102,351,630 (GRCm39) |
L565Q |
probably damaging |
Het |
| Jph3 |
A |
T |
8: 122,457,561 (GRCm39) |
Q67L |
probably damaging |
Het |
| Khnyn |
T |
C |
14: 56,124,043 (GRCm39) |
F99S |
probably damaging |
Het |
| Lhcgr |
A |
T |
17: 89,063,030 (GRCm39) |
L214Q |
probably damaging |
Het |
| Lix1l |
C |
A |
3: 96,508,745 (GRCm39) |
|
probably benign |
Het |
| Mettl13 |
C |
T |
1: 162,373,814 (GRCm39) |
V95I |
possibly damaging |
Het |
| Nod2 |
C |
T |
8: 89,390,437 (GRCm39) |
T226M |
probably damaging |
Het |
| Nwd2 |
T |
C |
5: 63,963,685 (GRCm39) |
W1090R |
probably damaging |
Het |
| Or2y1c |
A |
T |
11: 49,361,035 (GRCm39) |
D19V |
probably damaging |
Het |
| Pla2r1 |
C |
A |
2: 60,332,400 (GRCm39) |
V481F |
|
Het |
| Polr1b |
T |
A |
2: 128,967,595 (GRCm39) |
V996E |
probably damaging |
Het |
| Ppfia3 |
T |
A |
7: 44,991,141 (GRCm39) |
R1027W |
probably damaging |
Het |
| Pramel21 |
A |
T |
4: 143,343,677 (GRCm39) |
I326F |
probably benign |
Het |
| Rap1gds1 |
T |
C |
3: 138,663,305 (GRCm39) |
D298G |
probably damaging |
Het |
| Rlf |
T |
C |
4: 121,004,010 (GRCm39) |
T1767A |
possibly damaging |
Het |
| Scn3a |
C |
T |
2: 65,352,252 (GRCm39) |
V353M |
probably benign |
Het |
| Setd1b |
T |
C |
5: 123,299,114 (GRCm39) |
|
probably benign |
Het |
| Slc25a42 |
A |
G |
8: 70,646,799 (GRCm39) |
V19A |
probably benign |
Het |
| Smarcal1 |
T |
C |
1: 72,624,939 (GRCm39) |
S29P |
possibly damaging |
Het |
| Sntb2 |
T |
C |
8: 107,737,975 (GRCm39) |
F508L |
possibly damaging |
Het |
| Speer4a3 |
CTTT |
C |
5: 26,155,857 (GRCm39) |
|
probably benign |
Het |
| Syt15 |
G |
T |
14: 33,948,028 (GRCm39) |
R291L |
probably damaging |
Het |
| Tas2r114 |
T |
A |
6: 131,666,914 (GRCm39) |
N38I |
probably damaging |
Het |
| Tg |
T |
A |
15: 66,557,184 (GRCm39) |
N948K |
probably damaging |
Het |
| Tmem115 |
A |
G |
9: 107,411,993 (GRCm39) |
|
probably benign |
Het |
| Ttll8 |
C |
T |
15: 88,818,146 (GRCm39) |
D175N |
probably benign |
Het |
| Txk |
T |
A |
5: 72,858,050 (GRCm39) |
Y398F |
probably damaging |
Het |
| Wdr36 |
C |
A |
18: 32,980,013 (GRCm39) |
T246K |
probably damaging |
Het |
| Wdr43 |
A |
T |
17: 71,932,461 (GRCm39) |
R113S |
probably benign |
Het |
| Ybx1 |
T |
C |
4: 119,138,785 (GRCm39) |
Y239C |
probably 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 |
|
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 |
|
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'- AGAATGTTGATGGGATCCATGC -3'
(R):5'- TCACCATTGATGAGCTGGAGAG -3'
Sequencing Primer
(F):5'- GGGATCCATGCTTTATTAACATGCTC -3'
(R):5'- CCATTGATGAGCTGGAGAGACTTG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation