Incidental Mutation 'R5889:Prom2'
| ID |
456203 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prom2
|
| Ensembl Gene |
ENSMUSG00000027376 |
| Gene Name |
prominin 2 |
| Synonyms |
|
| MMRRC Submission |
044090-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5889 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
127368873-127383337 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 127371331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 776
(A776T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099503
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028855]
[ENSMUST00000103214]
|
| AlphaFold |
Q3UUY6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028855
AA Change: A776T
PolyPhen 2
Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000028855
Gene: ENSMUSG00000027376
AA Change: A776T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:Prominin
|
25 |
808 |
3.6e-279 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103214
AA Change: A776T
PolyPhen 2
Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099503
Gene: ENSMUSG00000027376
AA Change: A776T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prominin
|
18 |
818 |
3e-288 |
PFAM |
|
| Meta Mutation Damage Score |
0.2222 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.3%
|
| Validation Efficiency |
100% (63/63) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the prominin family of pentaspan membrane glycoproteins. The encoded protein localizes to basal epithelial cells and may be involved in the organization of plasma membrane microdomains. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous mutant mice exhibited signs of anemia, with decreased mean red blood cell count and decreased mean hemoglobin and hematocrit levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
T |
C |
2: 35,244,461 (GRCm39) |
E297G |
probably damaging |
Het |
| Astn1 |
C |
T |
1: 158,427,950 (GRCm39) |
P707L |
possibly damaging |
Het |
| Cep290 |
T |
C |
10: 100,334,936 (GRCm39) |
S319P |
possibly damaging |
Het |
| Chrna4 |
A |
C |
2: 180,670,451 (GRCm39) |
L435W |
probably damaging |
Het |
| Cilp |
C |
A |
9: 65,187,625 (GRCm39) |
A1240D |
possibly damaging |
Het |
| Col17a1 |
A |
G |
19: 47,637,511 (GRCm39) |
F1249S |
possibly damaging |
Het |
| Creb3l3 |
T |
C |
10: 80,928,367 (GRCm39) |
|
probably benign |
Het |
| Cyp4f40 |
C |
A |
17: 32,894,731 (GRCm39) |
T432N |
probably benign |
Het |
| Dsg1c |
T |
G |
18: 20,416,658 (GRCm39) |
I853R |
possibly damaging |
Het |
| Ebna1bp2 |
T |
A |
4: 118,478,620 (GRCm39) |
D34E |
probably damaging |
Het |
| Edc4 |
C |
T |
8: 106,614,654 (GRCm39) |
T112I |
possibly damaging |
Het |
| Enpep |
T |
A |
3: 129,106,227 (GRCm39) |
Y333F |
probably damaging |
Het |
| Exoc6 |
A |
G |
19: 37,570,693 (GRCm39) |
H291R |
probably damaging |
Het |
| Fbln5 |
G |
T |
12: 101,731,485 (GRCm39) |
N236K |
probably damaging |
Het |
| Fndc8 |
A |
T |
11: 82,789,555 (GRCm39) |
T238S |
probably damaging |
Het |
| Frem3 |
T |
C |
8: 81,340,917 (GRCm39) |
V1070A |
probably damaging |
Het |
| Gabra4 |
A |
T |
5: 71,729,234 (GRCm39) |
N515K |
possibly damaging |
Het |
| Gemin5 |
A |
G |
11: 58,013,181 (GRCm39) |
V1422A |
possibly damaging |
Het |
| Gm10118 |
A |
G |
10: 63,762,890 (GRCm39) |
|
probably benign |
Het |
| Grm5 |
A |
G |
7: 87,252,281 (GRCm39) |
D177G |
probably damaging |
Het |
| Gtf2h4 |
G |
A |
17: 35,981,792 (GRCm39) |
P147L |
possibly damaging |
Het |
| Hgsnat |
T |
C |
8: 26,453,395 (GRCm39) |
D265G |
probably damaging |
Het |
| Hsd17b4 |
T |
A |
18: 50,310,276 (GRCm39) |
L513Q |
probably damaging |
Het |
| Hsd17b7 |
A |
T |
1: 169,783,487 (GRCm39) |
M307K |
probably benign |
Het |
| Hspa5 |
T |
C |
2: 34,664,629 (GRCm39) |
V361A |
probably damaging |
Het |
| Iqgap2 |
A |
G |
13: 95,768,550 (GRCm39) |
V1450A |
probably benign |
Het |
| Itpr3 |
A |
G |
17: 27,334,039 (GRCm39) |
E2037G |
probably damaging |
Het |
| Itprid2 |
T |
A |
2: 79,488,072 (GRCm39) |
D718E |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,835,467 (GRCm39) |
|
probably benign |
Het |
| Manba |
G |
T |
3: 135,230,359 (GRCm39) |
G311* |
probably null |
Het |
| Mettl24 |
T |
A |
10: 40,622,486 (GRCm39) |
V236E |
probably benign |
Het |
| Myh3 |
A |
G |
11: 66,977,201 (GRCm39) |
D310G |
probably damaging |
Het |
| Ncoa4 |
A |
T |
14: 31,888,616 (GRCm39) |
|
probably benign |
Het |
| Nop56 |
G |
T |
2: 130,117,902 (GRCm39) |
R126L |
probably damaging |
Het |
| Nos3 |
C |
A |
5: 24,573,775 (GRCm39) |
|
probably benign |
Het |
| Or13c7b |
T |
C |
4: 43,820,492 (GRCm39) |
M290V |
possibly damaging |
Het |
| Pcdhga3 |
T |
A |
18: 37,809,662 (GRCm39) |
V705D |
probably damaging |
Het |
| Prss48 |
A |
G |
3: 85,905,492 (GRCm39) |
I127T |
probably damaging |
Het |
| Rtca |
T |
C |
3: 116,293,232 (GRCm39) |
Y193C |
possibly damaging |
Het |
| Samd9l |
T |
C |
6: 3,376,460 (GRCm39) |
Y267C |
probably damaging |
Het |
| Scube3 |
A |
G |
17: 28,379,887 (GRCm39) |
R272G |
possibly damaging |
Het |
| Sprr1a |
G |
T |
3: 92,391,951 (GRCm39) |
H17N |
probably benign |
Het |
| Stard3 |
G |
C |
11: 98,266,361 (GRCm39) |
Q120H |
probably benign |
Het |
| Supt6 |
A |
G |
11: 78,103,574 (GRCm39) |
I1377T |
probably damaging |
Het |
| Svop |
A |
T |
5: 114,203,692 (GRCm39) |
S30T |
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,119,026 (GRCm39) |
L5882* |
probably null |
Het |
| Tanc2 |
G |
T |
11: 105,812,633 (GRCm39) |
R1359L |
probably benign |
Het |
| Tmc7 |
A |
C |
7: 118,165,549 (GRCm39) |
L55R |
probably benign |
Het |
| Trappc11 |
G |
A |
8: 47,972,613 (GRCm39) |
A320V |
probably benign |
Het |
| Ttll8 |
G |
C |
15: 88,818,142 (GRCm39) |
P178A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,560,993 (GRCm39) |
E20809G |
probably damaging |
Het |
| Tubb2a |
A |
T |
13: 34,259,451 (GRCm39) |
V113E |
possibly damaging |
Het |
| Ube2d1 |
A |
T |
10: 71,095,699 (GRCm39) |
|
probably benign |
Het |
| Usp48 |
T |
C |
4: 137,343,723 (GRCm39) |
V452A |
probably benign |
Het |
| Vldlr |
T |
A |
19: 27,217,064 (GRCm39) |
I39N |
probably damaging |
Het |
| Wbp1l |
C |
T |
19: 46,642,619 (GRCm39) |
R191* |
probably null |
Het |
| Zyg11b |
C |
T |
4: 108,094,577 (GRCm39) |
W669* |
probably null |
Het |
|
| Other mutations in Prom2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01024:Prom2
|
APN |
2 |
127,383,059 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01140:Prom2
|
APN |
2 |
127,373,125 (GRCm39) |
splice site |
probably benign |
|
|
IGL01300:Prom2
|
APN |
2 |
127,377,009 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL01445:Prom2
|
APN |
2 |
127,381,433 (GRCm39) |
splice site |
probably benign |
|
|
IGL01472:Prom2
|
APN |
2 |
127,374,802 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL01541:Prom2
|
APN |
2 |
127,371,050 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01991:Prom2
|
APN |
2 |
127,371,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02421:Prom2
|
APN |
2 |
127,373,802 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02557:Prom2
|
APN |
2 |
127,371,391 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02724:Prom2
|
APN |
2 |
127,380,577 (GRCm39) |
splice site |
probably benign |
|
|
IGL02826:Prom2
|
APN |
2 |
127,373,036 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02830:Prom2
|
APN |
2 |
127,376,989 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02990:Prom2
|
APN |
2 |
127,370,734 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0110:Prom2
|
UTSW |
2 |
127,373,033 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0133:Prom2
|
UTSW |
2 |
127,380,258 (GRCm39) |
splice site |
probably benign |
|
|
R0165:Prom2
|
UTSW |
2 |
127,381,434 (GRCm39) |
splice site |
probably benign |
|
|
R0220:Prom2
|
UTSW |
2 |
127,383,027 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0466:Prom2
|
UTSW |
2 |
127,370,709 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0505:Prom2
|
UTSW |
2 |
127,374,787 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0605:Prom2
|
UTSW |
2 |
127,381,915 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0633:Prom2
|
UTSW |
2 |
127,381,445 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0947:Prom2
|
UTSW |
2 |
127,380,183 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1682:Prom2
|
UTSW |
2 |
127,382,082 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1806:Prom2
|
UTSW |
2 |
127,374,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1859:Prom2
|
UTSW |
2 |
127,383,017 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1864:Prom2
|
UTSW |
2 |
127,381,707 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1866:Prom2
|
UTSW |
2 |
127,378,514 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3824:Prom2
|
UTSW |
2 |
127,377,593 (GRCm39) |
splice site |
probably benign |
|
|
R4472:Prom2
|
UTSW |
2 |
127,382,111 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5078:Prom2
|
UTSW |
2 |
127,373,757 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5930:Prom2
|
UTSW |
2 |
127,372,053 (GRCm39) |
nonsense |
probably null |
|
|
R6214:Prom2
|
UTSW |
2 |
127,381,695 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6215:Prom2
|
UTSW |
2 |
127,381,695 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6914:Prom2
|
UTSW |
2 |
127,372,295 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7099:Prom2
|
UTSW |
2 |
127,381,698 (GRCm39) |
missense |
probably benign |
|
|
R7427:Prom2
|
UTSW |
2 |
127,381,731 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7428:Prom2
|
UTSW |
2 |
127,381,731 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7525:Prom2
|
UTSW |
2 |
127,374,701 (GRCm39) |
missense |
probably benign |
|
|
R8477:Prom2
|
UTSW |
2 |
127,381,124 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9287:Prom2
|
UTSW |
2 |
127,380,185 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9337:Prom2
|
UTSW |
2 |
127,371,094 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Prom2
|
UTSW |
2 |
127,374,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Prom2
|
UTSW |
2 |
127,381,446 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1177:Prom2
|
UTSW |
2 |
127,380,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAAAACCAGAAGGCGTTC -3'
(R):5'- AGAACCCATGGCCGTTATG -3'
Sequencing Primer
(F):5'- TTCTGGACAGGAGCCACGAG -3'
(R):5'- GCGCCCACTACTCTATGAG -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation