Incidental Mutation 'R5751:Aqp7'
| ID |
446003 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aqp7
|
| Ensembl Gene |
ENSMUSG00000028427 |
| Gene Name |
aquaporin 7 |
| Synonyms |
AQP7L, AQPap |
| MMRRC Submission |
043201-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R5751 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
41033074-41048139 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 41035510 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 115
(T115I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093007
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030136]
[ENSMUST00000054945]
|
| AlphaFold |
O54794 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030136
AA Change: T115I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000030136
Gene: ENSMUSG00000028427
AA Change: T115I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIP
|
12 |
257 |
7e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054945
AA Change: T115I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000093007
Gene: ENSMUSG00000028427
AA Change: T115I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIP
|
12 |
257 |
1.6e-50 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144201
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149517
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| 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 aquaporin family of water-selective membrane channels. The encoded protein localizes to the plasma membrane and allows movement of water, glycerol and urea across cell membranes. This gene is highly expressed in the adipose tissue where the encoded protein facilitates efflux of glycerol. In the proximal straight tubules of kidney, the encoded protein is localized to the apical membrane and prevents excretion of glycerol into urine. The encoded protein is present in spermatids, as well as in the testicular and epididymal spermatozoa suggesting an important role in late spermatogenesis. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene is located adjacent to a related aquaporin gene on chromosome 9. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous null mice for one allele show decreased circulating glycerol levels and fasting hypoglycemia. Other mutant alleles show increased gonadal fat pad mass and adipocyte hypertrophy or increased urine glucose and impaired water permeability in the kidney, but have normal serum glycerol. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
G |
5: 114,368,893 (GRCm39) |
T1704A |
possibly damaging |
Het |
| Adam6a |
T |
A |
12: 113,508,447 (GRCm39) |
D273E |
possibly damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,670,355 (GRCm39) |
L1610F |
probably damaging |
Het |
| Ago2 |
C |
T |
15: 73,000,172 (GRCm39) |
|
probably null |
Het |
| Apob |
T |
A |
12: 8,062,619 (GRCm39) |
Y87* |
probably null |
Het |
| Atp7b |
A |
G |
8: 22,508,144 (GRCm39) |
V599A |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 31,032,863 (GRCm39) |
I391F |
probably benign |
Het |
| Emc2 |
A |
G |
15: 43,360,453 (GRCm39) |
|
probably null |
Het |
| Gbp9 |
G |
T |
5: 105,229,124 (GRCm39) |
Q508K |
probably benign |
Het |
| Grpel1 |
C |
T |
5: 36,626,811 (GRCm39) |
T31M |
probably benign |
Het |
| Gtf3c4 |
C |
T |
2: 28,717,511 (GRCm39) |
A790T |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,449,305 (GRCm39) |
C115R |
probably damaging |
Het |
| Ik |
G |
A |
18: 36,886,566 (GRCm39) |
R346H |
probably benign |
Het |
| Ldc1 |
A |
C |
4: 130,114,234 (GRCm39) |
V61G |
probably benign |
Het |
| Lhx3 |
A |
G |
2: 26,091,173 (GRCm39) |
S379P |
probably benign |
Het |
| Mocs1 |
A |
G |
17: 49,756,766 (GRCm39) |
|
probably null |
Het |
| Mycbp2 |
C |
A |
14: 103,385,986 (GRCm39) |
V3457F |
probably damaging |
Het |
| Or14j7 |
A |
T |
17: 38,234,861 (GRCm39) |
I135L |
probably benign |
Het |
| Or4a2 |
A |
T |
2: 89,248,031 (GRCm39) |
I242N |
probably damaging |
Het |
| Or5an6 |
G |
A |
19: 12,371,780 (GRCm39) |
R51K |
probably benign |
Het |
| Orc5 |
C |
T |
5: 22,704,969 (GRCm39) |
|
probably null |
Het |
| Phf20 |
T |
C |
2: 156,109,261 (GRCm39) |
S203P |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,817,204 (GRCm39) |
S1815G |
possibly damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,871,790 (GRCm39) |
V11A |
probably damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,300,086 (GRCm39) |
|
probably null |
Het |
| Ranbp3l |
A |
G |
15: 9,063,169 (GRCm39) |
D326G |
probably damaging |
Het |
| Rsph4a |
C |
T |
10: 33,781,789 (GRCm39) |
A213V |
probably damaging |
Het |
| Sema3b |
A |
G |
9: 107,476,913 (GRCm39) |
S570P |
probably benign |
Het |
| Spata31d1b |
T |
A |
13: 59,866,787 (GRCm39) |
C1312S |
probably benign |
Het |
| Sphkap |
G |
T |
1: 83,253,618 (GRCm39) |
T1377K |
probably benign |
Het |
| Stk32a |
A |
T |
18: 43,438,085 (GRCm39) |
R195W |
possibly damaging |
Het |
| Tacr2 |
T |
C |
10: 62,088,769 (GRCm39) |
I58T |
probably damaging |
Het |
| Tmem200c |
A |
T |
17: 69,147,547 (GRCm39) |
K43N |
probably damaging |
Het |
| Tnik |
T |
C |
3: 28,648,241 (GRCm39) |
M431T |
probably benign |
Het |
| Uckl1 |
A |
G |
2: 181,216,245 (GRCm39) |
S167P |
possibly damaging |
Het |
| Vmn2r90 |
A |
G |
17: 17,954,128 (GRCm39) |
Y764C |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,408,423 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Aqp7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01862:Aqp7
|
APN |
4 |
41,045,321 (GRCm39) |
nonsense |
probably null |
|
|
IGL01871:Aqp7
|
APN |
4 |
41,045,321 (GRCm39) |
nonsense |
probably null |
|
|
IGL02173:Aqp7
|
APN |
4 |
41,034,379 (GRCm39) |
nonsense |
probably null |
|
|
IGL03139:Aqp7
|
APN |
4 |
41,045,326 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03237:Aqp7
|
APN |
4 |
41,034,884 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL03241:Aqp7
|
APN |
4 |
41,045,270 (GRCm39) |
splice site |
probably benign |
|
|
IGL03055:Aqp7
|
UTSW |
4 |
41,045,326 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0884:Aqp7
|
UTSW |
4 |
41,034,929 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1617:Aqp7
|
UTSW |
4 |
41,036,109 (GRCm39) |
missense |
probably null |
0.74 |
|
R3551:Aqp7
|
UTSW |
4 |
41,045,329 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5340:Aqp7
|
UTSW |
4 |
41,034,347 (GRCm39) |
missense |
probably benign |
|
|
R5689:Aqp7
|
UTSW |
4 |
41,035,510 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5690:Aqp7
|
UTSW |
4 |
41,035,510 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5691:Aqp7
|
UTSW |
4 |
41,035,510 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5692:Aqp7
|
UTSW |
4 |
41,035,510 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5710:Aqp7
|
UTSW |
4 |
41,035,510 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5711:Aqp7
|
UTSW |
4 |
41,035,510 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5713:Aqp7
|
UTSW |
4 |
41,035,510 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5817:Aqp7
|
UTSW |
4 |
41,035,510 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5820:Aqp7
|
UTSW |
4 |
41,035,510 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5921:Aqp7
|
UTSW |
4 |
41,036,093 (GRCm39) |
missense |
probably benign |
|
|
R8422:Aqp7
|
UTSW |
4 |
41,035,622 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8697:Aqp7
|
UTSW |
4 |
41,045,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGGCTTTACTCTACTAGGGTTG -3'
(R):5'- GTGCGGTCTTTTCACAGAGAAC -3'
Sequencing Primer
(F):5'- ACTCTACTAGGGTTGGGGATTTG -3'
(R):5'- GGTCTTTTCACAGAGAACATCCC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation