Incidental Mutation 'R9243:Impg2'
ID |
701117 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Impg2
|
Ensembl Gene |
ENSMUSG00000035270 |
Gene Name |
interphotoreceptor matrix proteoglycan 2 |
Synonyms |
IPM200, Spacrcan, PG10.2 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.102)
|
Stock # |
R9243 (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 56051823 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 242
(S242C)
|
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: S242C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000063648 Gene: ENSMUSG00000035270 AA Change: S242C
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: S242C
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000125135 Gene: ENSMUSG00000035270 AA Change: S242C
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: 98.9%
|
Validation Efficiency |
96% (51/53) |
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 |
Akap6 |
T |
A |
12: 53,188,035 (GRCm39) |
S1816R |
probably benign |
Het |
Appl1 |
A |
T |
14: 26,649,710 (GRCm39) |
F605L |
possibly damaging |
Het |
Cacna1g |
T |
A |
11: 94,347,893 (GRCm39) |
I732F |
possibly damaging |
Het |
Capg |
T |
A |
6: 72,538,070 (GRCm39) |
S319T |
probably benign |
Het |
Cdh17 |
T |
A |
4: 11,771,333 (GRCm39) |
F38L |
probably benign |
Het |
Cep295 |
T |
A |
9: 15,243,605 (GRCm39) |
N1617I |
probably benign |
Het |
Cep57 |
C |
T |
9: 13,738,204 (GRCm39) |
|
probably benign |
Het |
Cfap46 |
A |
T |
7: 139,195,265 (GRCm39) |
|
probably benign |
Het |
Csnk1g2 |
C |
A |
10: 80,475,648 (GRCm39) |
A405E |
probably damaging |
Het |
Dock7 |
A |
G |
4: 98,857,871 (GRCm39) |
V1481A |
unknown |
Het |
Exoc2 |
T |
C |
13: 31,109,778 (GRCm39) |
K197E |
probably benign |
Het |
Fancg |
C |
T |
4: 43,006,565 (GRCm39) |
V330I |
possibly damaging |
Het |
Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
Gad2 |
A |
G |
2: 22,525,053 (GRCm39) |
E279G |
possibly damaging |
Het |
Gria1 |
A |
G |
11: 57,128,888 (GRCm39) |
Y454C |
probably benign |
Het |
Grik3 |
C |
T |
4: 125,601,690 (GRCm39) |
R856C |
probably benign |
Het |
Hdac4 |
C |
A |
1: 91,900,511 (GRCm39) |
R622I |
probably damaging |
Het |
Hdac4 |
T |
C |
1: 91,900,512 (GRCm39) |
R622G |
probably benign |
Het |
Htt |
T |
C |
5: 35,056,276 (GRCm39) |
|
probably benign |
Het |
Idh1 |
A |
G |
1: 65,207,656 (GRCm39) |
|
probably null |
Het |
Igf1r |
A |
G |
7: 67,861,775 (GRCm39) |
S1112G |
probably benign |
Het |
Itgb1 |
T |
A |
8: 129,433,587 (GRCm39) |
S34T |
probably benign |
Het |
Kcnh8 |
A |
G |
17: 53,205,542 (GRCm39) |
I546V |
probably damaging |
Het |
Klrd1 |
T |
G |
6: 129,568,795 (GRCm39) |
M1R |
probably null |
Het |
Krtap16-1 |
A |
T |
11: 99,876,644 (GRCm39) |
C253* |
probably null |
Het |
Mapk7 |
A |
G |
11: 61,384,535 (GRCm39) |
I57T |
possibly damaging |
Het |
Msrb2 |
A |
G |
2: 19,388,073 (GRCm39) |
N74D |
probably benign |
Het |
Myd88 |
A |
T |
9: 119,168,773 (GRCm39) |
S85T |
probably benign |
Het |
Myo1c |
G |
T |
11: 75,541,437 (GRCm39) |
|
probably benign |
Het |
Nnt |
T |
A |
13: 119,494,060 (GRCm39) |
N674Y |
unknown |
Het |
Nrcam |
A |
G |
12: 44,620,607 (GRCm39) |
Y878C |
probably damaging |
Het |
Obscn |
T |
C |
11: 59,023,392 (GRCm39) |
T662A |
probably benign |
Het |
Or14j4 |
T |
C |
17: 37,921,408 (GRCm39) |
Q78R |
probably benign |
Het |
Or4l15 |
A |
G |
14: 50,197,881 (GRCm39) |
V216A |
probably benign |
Het |
Or51ah3 |
A |
G |
7: 103,209,782 (GRCm39) |
S33G |
probably benign |
Het |
Or8k40 |
A |
G |
2: 86,584,282 (GRCm39) |
S267P |
possibly damaging |
Het |
Pappa2 |
C |
A |
1: 158,763,763 (GRCm39) |
V583L |
probably damaging |
Het |
Parp1 |
T |
G |
1: 180,415,680 (GRCm39) |
S500A |
probably benign |
Het |
Pcdhb17 |
A |
G |
18: 37,619,989 (GRCm39) |
D593G |
probably damaging |
Het |
Pex19 |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
1: 171,956,150 (GRCm39) |
|
probably null |
Het |
Prrc1 |
C |
G |
18: 57,496,271 (GRCm39) |
S74W |
possibly damaging |
Het |
Rag2 |
G |
A |
2: 101,460,419 (GRCm39) |
G243D |
probably damaging |
Het |
Sgpp1 |
T |
C |
12: 75,781,961 (GRCm39) |
E126G |
probably damaging |
Het |
Skic2 |
G |
A |
17: 35,064,198 (GRCm39) |
T496M |
probably benign |
Het |
Slc17a1 |
C |
A |
13: 24,064,432 (GRCm39) |
F329L |
probably benign |
Het |
Slc52a3 |
G |
A |
2: 151,846,512 (GRCm39) |
V158I |
probably benign |
Het |
Slf1 |
T |
A |
13: 77,273,575 (GRCm39) |
T75S |
possibly damaging |
Het |
Smok2b |
G |
A |
17: 13,453,637 (GRCm39) |
|
probably null |
Het |
Tmem125 |
A |
T |
4: 118,399,089 (GRCm39) |
V114E |
probably damaging |
Het |
Ube2f |
A |
T |
1: 91,181,980 (GRCm39) |
|
probably benign |
Het |
Zdhhc19 |
T |
A |
16: 32,315,992 (GRCm39) |
F30I |
probably damaging |
Het |
Zfp236 |
T |
C |
18: 82,662,050 (GRCm39) |
|
probably benign |
Het |
Zfp462 |
C |
A |
4: 55,009,595 (GRCm39) |
Y520* |
probably null |
Het |
Zzz3 |
A |
G |
3: 152,133,920 (GRCm39) |
D326G |
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 |
R8901:Impg2
|
UTSW |
16 |
56,072,528 (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'- GCACTGAAGGAATAAGGTCATTC -3'
(R):5'- ACCACTCACGGGTGATTTTG -3'
Sequencing Primer
(F):5'- TGTGAAACTCTGAGGGGAG -3'
(R):5'- GGTTTCCTATAATGCACATGTCAG -3'
|
Posted On |
2022-03-25 |