Incidental Mutation 'R7226:Impg2'
| ID |
562188 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Impg2
|
| Ensembl Gene |
ENSMUSG00000035270 |
| Gene Name |
interphotoreceptor matrix proteoglycan 2 |
| Synonyms |
IPM200, Spacrcan, PG10.2 |
| MMRRC Submission |
045298-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R7226 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
56024676-56094119 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 56087467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 1095
(C1095*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063648
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069936]
[ENSMUST00000160116]
|
| AlphaFold |
Q80XH2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000069936
AA Change: C1095*
|
| SMART Domains |
Protein: ENSMUSP00000063648
Gene: ENSMUSG00000035270
AA Change: C1095*
| 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 null
Transcript: ENSMUST00000160116
AA Change: C986*
|
| SMART Domains |
Protein: ENSMUSP00000125135
Gene: ENSMUSG00000035270
AA Change: C986*
| 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: 99.7%
- 20x: 99.1%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700025B11Rik |
C |
T |
15: 77,443,189 (GRCm39) |
V17I |
unknown |
Het |
| Acad8 |
T |
A |
9: 26,889,726 (GRCm39) |
K323* |
probably null |
Het |
| Adam18 |
A |
T |
8: 25,137,824 (GRCm39) |
C339S |
probably damaging |
Het |
| Anxa7 |
A |
G |
14: 20,510,263 (GRCm39) |
F396L |
probably damaging |
Het |
| Ap2m1 |
T |
A |
16: 20,358,201 (GRCm39) |
V73D |
probably damaging |
Het |
| Asic2 |
A |
T |
11: 80,862,340 (GRCm39) |
I270N |
probably damaging |
Het |
| Atrn |
T |
G |
2: 130,828,664 (GRCm39) |
C1070G |
probably damaging |
Het |
| Bag6 |
A |
G |
17: 35,361,921 (GRCm39) |
N517S |
unknown |
Het |
| Bhmt1b |
A |
G |
18: 87,775,590 (GRCm39) |
D371G |
possibly damaging |
Het |
| Bltp3b |
A |
T |
10: 89,644,503 (GRCm39) |
Q1181L |
probably benign |
Het |
| Cavin1 |
A |
C |
11: 100,861,284 (GRCm39) |
D3E |
probably benign |
Het |
| Cc2d2b |
T |
C |
19: 40,779,751 (GRCm39) |
L571P |
unknown |
Het |
| Ccbe1 |
A |
T |
18: 66,216,199 (GRCm39) |
C175S |
probably damaging |
Het |
| Cd19 |
A |
G |
7: 126,013,995 (GRCm39) |
L5P |
unknown |
Het |
| Cd46 |
A |
G |
1: 194,724,314 (GRCm39) |
S362P |
possibly damaging |
Het |
| Celf5 |
A |
G |
10: 81,303,863 (GRCm39) |
S198P |
probably damaging |
Het |
| Cep170b |
A |
G |
12: 112,704,359 (GRCm39) |
R706G |
possibly damaging |
Het |
| Chd3 |
G |
T |
11: 69,260,037 (GRCm39) |
R61S |
unknown |
Het |
| Cpsf6 |
A |
C |
10: 117,197,727 (GRCm39) |
W253G |
unknown |
Het |
| Cyp27a1 |
G |
A |
1: 74,776,507 (GRCm39) |
G481D |
probably damaging |
Het |
| Ddr1 |
C |
T |
17: 36,002,039 (GRCm39) |
D218N |
possibly damaging |
Het |
| Dhx34 |
A |
T |
7: 15,932,801 (GRCm39) |
V1046D |
probably damaging |
Het |
| Dhx9 |
A |
T |
1: 153,341,423 (GRCm39) |
D608E |
probably benign |
Het |
| Dnajc6 |
C |
A |
4: 101,496,569 (GRCm39) |
A912E |
probably damaging |
Het |
| Ehmt1 |
T |
C |
2: 24,694,794 (GRCm39) |
D1051G |
probably damaging |
Het |
| Fam217b |
C |
A |
2: 178,062,996 (GRCm39) |
A320E |
probably benign |
Het |
| Farsa |
T |
A |
8: 85,590,689 (GRCm39) |
I169N |
probably benign |
Het |
| Fbn2 |
A |
G |
18: 58,170,142 (GRCm39) |
C2210R |
probably damaging |
Het |
| Fbxo3 |
T |
A |
2: 103,880,642 (GRCm39) |
S251T |
probably benign |
Het |
| Fer1l6 |
C |
T |
15: 58,462,384 (GRCm39) |
T813I |
probably benign |
Het |
| Ftl1-ps1 |
A |
T |
13: 74,555,114 (GRCm39) |
E131V |
probably damaging |
Het |
| Gins3 |
T |
A |
8: 96,364,499 (GRCm39) |
I83N |
probably damaging |
Het |
| Gja3 |
T |
C |
14: 57,273,350 (GRCm39) |
T341A |
probably benign |
Het |
| Gja5 |
A |
G |
3: 96,958,174 (GRCm39) |
Y77C |
probably damaging |
Het |
| Gm7247 |
A |
G |
14: 51,602,808 (GRCm39) |
K48R |
probably damaging |
Het |
| Gsx2 |
C |
A |
5: 75,236,621 (GRCm39) |
S67* |
probably null |
Het |
| H2-Q5 |
T |
A |
17: 35,616,089 (GRCm39) |
L217Q |
|
Het |
| Itga7 |
G |
T |
10: 128,776,801 (GRCm39) |
W222L |
probably damaging |
Het |
| Kdm2b |
T |
A |
5: 123,059,512 (GRCm39) |
D530V |
possibly damaging |
Het |
| Klhdc8a |
A |
T |
1: 132,230,344 (GRCm39) |
D153V |
probably damaging |
Het |
| Lin28a |
C |
T |
4: 133,733,619 (GRCm39) |
G143S |
probably damaging |
Het |
| Memo1 |
A |
G |
17: 74,509,338 (GRCm39) |
L227S |
probably damaging |
Het |
| Mettl27 |
T |
A |
5: 134,964,657 (GRCm39) |
V138E |
probably damaging |
Het |
| Mov10 |
G |
T |
3: 104,708,328 (GRCm39) |
L474I |
probably damaging |
Het |
| Nat10 |
T |
C |
2: 103,557,098 (GRCm39) |
N852S |
probably benign |
Het |
| Nfkbie |
T |
C |
17: 45,870,153 (GRCm39) |
V166A |
possibly damaging |
Het |
| Nktr |
T |
C |
9: 121,575,599 (GRCm39) |
M369T |
probably damaging |
Het |
| Nlrp9a |
A |
T |
7: 26,258,149 (GRCm39) |
N589I |
probably benign |
Het |
| Nrn1 |
G |
A |
13: 36,914,577 (GRCm39) |
R8C |
probably benign |
Het |
| Nrsn1 |
A |
G |
13: 25,437,451 (GRCm39) |
I159T |
probably damaging |
Het |
| Or1e29 |
A |
G |
11: 73,667,503 (GRCm39) |
S217P |
possibly damaging |
Het |
| Or2h15 |
C |
T |
17: 38,441,324 (GRCm39) |
G253D |
probably benign |
Het |
| Or5p61 |
A |
T |
7: 107,758,164 (GRCm39) |
D305E |
probably benign |
Het |
| Or6c88 |
G |
A |
10: 129,406,584 (GRCm39) |
G20D |
probably benign |
Het |
| Osbp |
T |
A |
19: 11,956,031 (GRCm39) |
D385E |
probably benign |
Het |
| Pan3 |
T |
A |
5: 147,463,802 (GRCm39) |
N547K |
probably damaging |
Het |
| Pip4p2 |
T |
A |
4: 14,892,464 (GRCm39) |
D109E |
probably damaging |
Het |
| Pum1 |
C |
A |
4: 130,499,292 (GRCm39) |
T1036K |
probably damaging |
Het |
| Rad54l2 |
C |
A |
9: 106,590,671 (GRCm39) |
R485L |
probably damaging |
Het |
| Rps26 |
A |
T |
10: 128,461,087 (GRCm39) |
F101I |
unknown |
Het |
| Sdsl |
T |
C |
5: 120,598,702 (GRCm39) |
N138S |
probably benign |
Het |
| Slc28a2b |
C |
A |
2: 122,353,013 (GRCm39) |
R453S |
probably benign |
Het |
| Slc39a6 |
A |
T |
18: 24,717,084 (GRCm39) |
H649Q |
probably damaging |
Het |
| Snip1 |
T |
A |
4: 124,965,273 (GRCm39) |
F226Y |
probably benign |
Het |
| Srrd |
T |
C |
5: 112,485,322 (GRCm39) |
T334A |
unknown |
Het |
| St14 |
C |
T |
9: 31,011,448 (GRCm39) |
D448N |
possibly damaging |
Het |
| Tmem270 |
T |
A |
5: 134,930,538 (GRCm39) |
Q241L |
probably benign |
Het |
| Tubb4b |
T |
C |
2: 25,114,180 (GRCm39) |
D41G |
probably benign |
Het |
| Usf3 |
T |
C |
16: 44,040,368 (GRCm39) |
M1616T |
possibly damaging |
Het |
| Vmn2r95 |
A |
T |
17: 18,672,245 (GRCm39) |
I733F |
possibly damaging |
Het |
| Zfp976 |
A |
T |
7: 42,262,684 (GRCm39) |
C385* |
probably null |
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 |
|
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'- GCACAGGCTTTTGTTATATGCTC -3'
(R):5'- AAACAGGCATTCAGTTCCATTAGG -3'
Sequencing Primer
(F):5'- CCTGTTATGCTGGGAATGGAACC -3'
(R):5'- GAAGCTCTTCCTTACCTGGTGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation