Incidental Mutation 'R5805:Slc66a2'
| ID |
448475 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc66a2
|
| Ensembl Gene |
ENSMUSG00000034006 |
| Gene Name |
solute carrier family 66 member 2 |
| Synonyms |
4933425L21Rik, 2310009N05Rik, Pqlc1, 5730564E11Rik, C78974 |
| MMRRC Submission |
043212-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R5805 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
80298458-80335940 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 80306658 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 76
(P76L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121684
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070135]
[ENSMUST00000091798]
[ENSMUST00000123750]
[ENSMUST00000129043]
[ENSMUST00000131780]
[ENSMUST00000140594]
[ENSMUST00000144468]
[ENSMUST00000157056]
|
| AlphaFold |
Q80XM9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070135
AA Change: P76L
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000069986
Gene: ENSMUSG00000034006
AA Change: P76L
| Domain | Start | End | E-Value | Type |
|---|
|
CTNS
|
31 |
62 |
6.86e-1 |
SMART |
|
transmembrane domain
|
78 |
100 |
N/A |
INTRINSIC |
|
CTNS
|
166 |
197 |
7.56e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091798
AA Change: P76L
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000089402
Gene: ENSMUSG00000034006
AA Change: P76L
| Domain | Start | End | E-Value | Type |
|---|
|
CTNS
|
31 |
62 |
6.86e-1 |
SMART |
|
transmembrane domain
|
78 |
100 |
N/A |
INTRINSIC |
|
CTNS
|
184 |
215 |
7.56e-9 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123750
AA Change: P76L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000121890
Gene: ENSMUSG00000034006
AA Change: P76L
| Domain | Start | End | E-Value | Type |
|---|
|
CTNS
|
31 |
62 |
6.86e-1 |
SMART |
|
transmembrane domain
|
78 |
100 |
N/A |
INTRINSIC |
|
CTNS
|
166 |
197 |
7.56e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129043
AA Change: P76L
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000118670
Gene: ENSMUSG00000034006
AA Change: P76L
| Domain | Start | End | E-Value | Type |
|---|
|
CTNS
|
31 |
62 |
6.86e-1 |
SMART |
|
transmembrane domain
|
78 |
100 |
N/A |
INTRINSIC |
|
CTNS
|
166 |
197 |
7.56e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131780
AA Change: P76L
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000117166
Gene: ENSMUSG00000034006
AA Change: P76L
| Domain | Start | End | E-Value | Type |
|---|
|
CTNS
|
31 |
62 |
6.86e-1 |
SMART |
|
transmembrane domain
|
78 |
100 |
N/A |
INTRINSIC |
|
CTNS
|
184 |
215 |
7.56e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134545
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140594
AA Change: P76L
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000119083
Gene: ENSMUSG00000034006
AA Change: P76L
| Domain | Start | End | E-Value | Type |
|---|
|
CTNS
|
31 |
62 |
6.86e-1 |
SMART |
|
transmembrane domain
|
78 |
100 |
N/A |
INTRINSIC |
|
CTNS
|
184 |
215 |
7.56e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155039
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144468
AA Change: P76L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121684
Gene: ENSMUSG00000034006
AA Change: P76L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PQ-loop
|
17 |
77 |
2e-14 |
PFAM |
|
transmembrane domain
|
78 |
100 |
N/A |
INTRINSIC |
|
Pfam:PQ-loop
|
152 |
187 |
2.2e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151677
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000157056
AA Change: P76L
PolyPhen 2
Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000115819
Gene: ENSMUSG00000034006
AA Change: P76L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PQ-loop
|
17 |
77 |
3.2e-14 |
PFAM |
|
transmembrane domain
|
78 |
100 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
C |
T |
11: 110,170,216 (GRCm39) |
C1293Y |
probably benign |
Het |
| Adam8 |
T |
A |
7: 139,565,794 (GRCm39) |
D611V |
probably damaging |
Het |
| Arhgap33 |
T |
C |
7: 30,225,839 (GRCm39) |
T576A |
probably benign |
Het |
| Atf7 |
A |
T |
15: 102,466,022 (GRCm39) |
|
probably null |
Het |
| Baiap3 |
T |
A |
17: 25,466,489 (GRCm39) |
T464S |
probably benign |
Het |
| Ccdc40 |
T |
C |
11: 119,136,906 (GRCm39) |
|
probably null |
Het |
| Celf2 |
T |
C |
2: 6,558,598 (GRCm39) |
E430G |
probably damaging |
Het |
| Chia1 |
A |
G |
3: 106,035,792 (GRCm39) |
T211A |
probably damaging |
Het |
| Ciz1 |
T |
C |
2: 32,257,408 (GRCm39) |
F151S |
probably damaging |
Het |
| Dnm2 |
A |
G |
9: 21,378,965 (GRCm39) |
T175A |
probably damaging |
Het |
| Doc2b |
A |
G |
11: 75,663,364 (GRCm39) |
S363P |
probably damaging |
Het |
| Garem1 |
C |
T |
18: 21,281,492 (GRCm39) |
R288H |
probably benign |
Het |
| Gpr132 |
G |
A |
12: 112,816,416 (GRCm39) |
R137C |
probably damaging |
Het |
| Helz2 |
C |
A |
2: 180,882,301 (GRCm39) |
C164F |
probably damaging |
Het |
| Itfg1 |
A |
T |
8: 86,493,601 (GRCm39) |
S293T |
probably benign |
Het |
| Kcnn2 |
T |
A |
18: 45,816,198 (GRCm39) |
D336E |
probably damaging |
Het |
| Kifc2 |
C |
T |
15: 76,546,353 (GRCm39) |
A245V |
probably benign |
Het |
| Krt18 |
T |
A |
15: 101,939,735 (GRCm39) |
I311N |
probably benign |
Het |
| Lypla1 |
T |
C |
1: 4,900,517 (GRCm39) |
M7T |
possibly damaging |
Het |
| Mef2a |
T |
C |
7: 66,901,416 (GRCm39) |
M285V |
possibly damaging |
Het |
| Micu1 |
A |
C |
10: 59,663,128 (GRCm39) |
K353Q |
possibly damaging |
Het |
| Mpv17l |
A |
G |
16: 13,760,013 (GRCm39) |
|
probably benign |
Het |
| Ntrk1 |
G |
A |
3: 87,687,479 (GRCm39) |
R652W |
probably damaging |
Het |
| Or13a28 |
T |
A |
7: 140,218,384 (GRCm39) |
F257I |
probably benign |
Het |
| Or13c7 |
T |
C |
4: 43,855,152 (GRCm39) |
I281T |
probably benign |
Het |
| Or4c107 |
G |
A |
2: 88,788,985 (GRCm39) |
M58I |
possibly damaging |
Het |
| Pcdh15 |
C |
A |
10: 74,066,091 (GRCm39) |
T252K |
probably damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,434,193 (GRCm39) |
M1392V |
probably benign |
Het |
| Phf20 |
T |
A |
2: 156,149,214 (GRCm39) |
V964E |
probably damaging |
Het |
| Pira13 |
G |
A |
7: 3,825,622 (GRCm39) |
L416F |
probably benign |
Het |
| Plcg2 |
T |
C |
8: 118,325,234 (GRCm39) |
|
probably null |
Het |
| Rnf10 |
A |
T |
5: 115,382,127 (GRCm39) |
C693S |
probably benign |
Het |
| Rnf19b |
A |
G |
4: 128,952,617 (GRCm39) |
Y185C |
probably damaging |
Het |
| Ros1 |
G |
T |
10: 51,999,385 (GRCm39) |
D1167E |
probably damaging |
Het |
| Sidt2 |
G |
A |
9: 45,853,497 (GRCm39) |
S701L |
probably damaging |
Het |
| Spag1 |
T |
C |
15: 36,200,430 (GRCm39) |
I345T |
probably damaging |
Het |
| Srcap |
T |
A |
7: 127,141,211 (GRCm39) |
S1603T |
possibly damaging |
Het |
| Stag1 |
T |
A |
9: 100,678,831 (GRCm39) |
Y251N |
probably damaging |
Het |
| Stxbp5 |
T |
C |
10: 9,776,330 (GRCm39) |
N33S |
probably benign |
Het |
| Tnrc6a |
T |
C |
7: 122,769,299 (GRCm39) |
L363P |
probably damaging |
Het |
| U2surp |
C |
T |
9: 95,361,357 (GRCm39) |
R591H |
possibly damaging |
Het |
| Usf3 |
A |
G |
16: 44,041,109 (GRCm39) |
N1863S |
possibly damaging |
Het |
| Vmn2r15 |
T |
C |
5: 109,434,806 (GRCm39) |
I633V |
possibly damaging |
Het |
| Zfp979 |
T |
C |
4: 147,698,067 (GRCm39) |
D214G |
probably damaging |
Het |
|
| Other mutations in Slc66a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0255:Slc66a2
|
UTSW |
18 |
80,306,733 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1252:Slc66a2
|
UTSW |
18 |
80,334,813 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1381:Slc66a2
|
UTSW |
18 |
80,326,529 (GRCm39) |
missense |
probably benign |
|
|
R2061:Slc66a2
|
UTSW |
18 |
80,334,930 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4343:Slc66a2
|
UTSW |
18 |
80,327,004 (GRCm39) |
unclassified |
probably benign |
|
|
R5678:Slc66a2
|
UTSW |
18 |
80,300,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5701:Slc66a2
|
UTSW |
18 |
80,315,693 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8368:Slc66a2
|
UTSW |
18 |
80,334,873 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9109:Slc66a2
|
UTSW |
18 |
80,300,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9298:Slc66a2
|
UTSW |
18 |
80,300,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9533:Slc66a2
|
UTSW |
18 |
80,327,034 (GRCm39) |
missense |
unknown |
|
|
X0065:Slc66a2
|
UTSW |
18 |
80,326,517 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTAGGTTGGTCCCACACAAACC -3'
(R):5'- CAGCTTCCCAAGAGCTAAGC -3'
Sequencing Primer
(F):5'- ACCCTGGAAGTCTAGGCAAGC -3'
(R):5'- AAGAGCTAAGCTTTGCCCG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation