Incidental Mutation 'R7528:Impg2'
| ID |
583154 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Impg2
|
| Ensembl Gene |
ENSMUSG00000035270 |
| Gene Name |
interphotoreceptor matrix proteoglycan 2 |
| Synonyms |
IPM200, Spacrcan, PG10.2 |
| MMRRC Submission |
045600-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R7528 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
56024676-56094119 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56080743 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 849
(V849A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063648
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069936]
[ENSMUST00000160116]
|
| AlphaFold |
Q80XH2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069936
AA Change: V849A
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000063648
Gene: ENSMUSG00000035270
AA Change: V849A
| 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 benign
Transcript: ENSMUST00000160116
AA Change: V740A
PolyPhen 2
Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000125135
Gene: ENSMUSG00000035270
AA Change: V740A
| 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: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (57/57) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
T |
C |
14: 118,767,317 (GRCm39) |
E920G |
probably damaging |
Het |
| Acss2 |
A |
C |
2: 155,399,066 (GRCm39) |
N443H |
probably damaging |
Het |
| Adam3 |
C |
A |
8: 25,167,279 (GRCm39) |
A71S |
unknown |
Het |
| Agpat3 |
A |
G |
10: 78,123,746 (GRCm39) |
L38P |
probably damaging |
Het |
| Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
| Amtn |
C |
A |
5: 88,526,711 (GRCm39) |
|
probably null |
Het |
| App |
T |
G |
16: 84,775,146 (GRCm39) |
Y497S |
possibly damaging |
Het |
| Bphl |
T |
A |
13: 34,244,473 (GRCm39) |
Y197N |
probably damaging |
Het |
| Btrc |
T |
A |
19: 45,491,525 (GRCm39) |
M160K |
possibly damaging |
Het |
| Ccdc181 |
A |
C |
1: 164,107,527 (GRCm39) |
N70T |
probably benign |
Het |
| Cd55b |
T |
C |
1: 130,347,473 (GRCm39) |
N113D |
possibly damaging |
Het |
| Ctrb1 |
T |
A |
8: 112,413,783 (GRCm39) |
I194F |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,391,622 (GRCm39) |
H691R |
probably damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,056,164 (GRCm39) |
V1579A |
possibly damaging |
Het |
| Dst |
T |
A |
1: 34,333,603 (GRCm39) |
F5030I |
probably damaging |
Het |
| Eppk1 |
G |
A |
15: 76,004,308 (GRCm39) |
|
probably benign |
Het |
| Fbxw4 |
T |
C |
19: 45,648,449 (GRCm39) |
E7G |
unknown |
Het |
| Fos |
T |
A |
12: 85,522,432 (GRCm39) |
C154S |
probably damaging |
Het |
| Foxh1 |
A |
G |
15: 76,553,511 (GRCm39) |
V97A |
probably benign |
Het |
| Gmeb1 |
G |
A |
4: 131,959,361 (GRCm39) |
T231I |
possibly damaging |
Het |
| Golga3 |
T |
A |
5: 110,360,098 (GRCm39) |
V1112E |
probably damaging |
Het |
| Gprin3 |
T |
C |
6: 59,331,017 (GRCm39) |
D430G |
possibly damaging |
Het |
| Hpse2 |
T |
C |
19: 42,801,463 (GRCm39) |
D441G |
probably damaging |
Het |
| Hydin |
G |
A |
8: 111,107,204 (GRCm39) |
W460* |
probably null |
Het |
| Ifi204 |
T |
C |
1: 173,579,406 (GRCm39) |
I480V |
probably benign |
Het |
| Kars1 |
T |
C |
8: 112,737,866 (GRCm39) |
D12G |
probably benign |
Het |
| Klhdc7a |
A |
T |
4: 139,694,828 (GRCm39) |
Y40N |
probably damaging |
Het |
| Krtap5-3 |
T |
C |
7: 141,755,219 (GRCm39) |
C19R |
unknown |
Het |
| Macf1 |
G |
A |
4: 123,325,852 (GRCm39) |
A5217V |
possibly damaging |
Het |
| Mlc1 |
A |
T |
15: 88,858,710 (GRCm39) |
I146N |
possibly damaging |
Het |
| Myo3a |
A |
T |
2: 22,270,925 (GRCm39) |
R129* |
probably null |
Het |
| Nsun4 |
G |
T |
4: 115,891,391 (GRCm39) |
Y329* |
probably null |
Het |
| Or4k1 |
A |
G |
14: 50,377,277 (GRCm39) |
V273A |
possibly damaging |
Het |
| Or56a3b |
T |
C |
7: 104,771,071 (GRCm39) |
Y136H |
probably damaging |
Het |
| Pard3 |
G |
A |
8: 128,329,646 (GRCm39) |
R1214H |
probably damaging |
Het |
| Phf20 |
T |
A |
2: 156,144,928 (GRCm39) |
Y845* |
probably null |
Het |
| Pik3c2a |
A |
G |
7: 115,993,474 (GRCm39) |
I431T |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,494,464 (GRCm39) |
S1894G |
probably damaging |
Het |
| Ppp1r7 |
C |
T |
1: 93,282,123 (GRCm39) |
Q225* |
probably null |
Het |
| Ppp4r1 |
C |
A |
17: 66,120,493 (GRCm39) |
T209K |
probably damaging |
Het |
| Prc1 |
T |
C |
7: 79,950,183 (GRCm39) |
|
probably null |
Het |
| Prex2 |
T |
G |
1: 11,274,316 (GRCm39) |
D1329E |
probably damaging |
Het |
| Ptch1 |
C |
T |
13: 63,659,528 (GRCm39) |
R1375H |
probably benign |
Het |
| Rab24 |
A |
T |
13: 55,468,921 (GRCm39) |
C87S |
probably damaging |
Het |
| Rnf43 |
A |
T |
11: 87,622,954 (GRCm39) |
Y558F |
probably benign |
Het |
| Serpinb6e |
T |
C |
13: 34,016,474 (GRCm39) |
I420V |
possibly damaging |
Het |
| Slain2 |
C |
A |
5: 73,072,143 (GRCm39) |
S59* |
probably null |
Het |
| Slfn3 |
A |
G |
11: 83,105,731 (GRCm39) |
D576G |
probably benign |
Het |
| Sptbn4 |
A |
G |
7: 27,141,960 (GRCm39) |
M11T |
probably benign |
Het |
| Tdh |
T |
C |
14: 63,731,460 (GRCm39) |
D238G |
probably damaging |
Het |
| Top2b |
T |
A |
14: 16,395,427 (GRCm38) |
Y337* |
probably null |
Het |
| Trav15-2-dv6-2 |
A |
C |
14: 53,887,308 (GRCm39) |
Y76S |
probably benign |
Het |
| Vmn1r172 |
G |
T |
7: 23,359,189 (GRCm39) |
G25C |
probably damaging |
Het |
| Vmn2r60 |
AG |
A |
7: 41,845,158 (GRCm39) |
|
probably null |
Het |
| Vps13d |
T |
C |
4: 144,818,492 (GRCm39) |
E3125G |
|
Het |
| Xkr6 |
G |
T |
14: 64,056,610 (GRCm39) |
V430F |
probably benign |
Het |
| Zfp142 |
T |
C |
1: 74,610,061 (GRCm39) |
T1245A |
probably benign |
Het |
| Zfp960 |
C |
T |
17: 17,307,825 (GRCm39) |
H180Y |
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 |
|
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'- GGACCATGTTGCCAGAATCAG -3'
(R):5'- ACATGTTTGTCACGCGGAG -3'
Sequencing Primer
(F):5'- GGACAAGAACTTCTTCCTTAGGG -3'
(R):5'- TGTCACGCGGAGGCTGAAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation