Incidental Mutation 'R4768:Slc9a2'
| ID |
366254 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc9a2
|
| Ensembl Gene |
ENSMUSG00000026062 |
| Gene Name |
solute carrier family 9 (sodium/hydrogen exchanger), member 2 |
| Synonyms |
2210416H12Rik, NHE2, 4932415O19Rik |
| MMRRC Submission |
042409-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R4768 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
40720872-40808045 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 40765534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 308
(R308Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027231
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027231]
[ENSMUST00000192345]
|
| AlphaFold |
Q3ZAS0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027231
AA Change: R308Q
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000027231
Gene: ENSMUSG00000026062
AA Change: R308Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
60 |
N/A |
INTRINSIC |
|
Pfam:Na_H_Exchanger
|
85 |
486 |
1.4e-95 |
PFAM |
|
low complexity region
|
528 |
543 |
N/A |
INTRINSIC |
|
Pfam:NEXCaM_BD
|
576 |
685 |
3e-44 |
PFAM |
|
low complexity region
|
738 |
753 |
N/A |
INTRINSIC |
|
low complexity region
|
788 |
793 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000192345
AA Change: R308Q
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142144
Gene: ENSMUSG00000026062
AA Change: R308Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
60 |
N/A |
INTRINSIC |
|
Pfam:Na_H_Exchanger
|
85 |
336 |
2.5e-56 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
| 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 sodium-hydrogen exchanger (NHE) protein family. These proteins are involved in sodium-ion transport by exchanging intracellular hydrogen ions to external sodium ions and help in the regulation of cell pH and volume. The encoded protein is localized to the apical membrane and is involved in apical absorption of sodium. [provided by RefSeq, Jun 2016]
PHENOTYPE: Gastric acid secretion is impaired in homozygous mutant mice. The gastric mucosa becomes inflamed and exhibits an altered cellular composition. Mutant mice do not breed well. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadm |
A |
G |
3: 153,628,579 (GRCm39) |
Y419H |
probably benign |
Het |
| Adam28 |
A |
G |
14: 68,872,264 (GRCm39) |
V326A |
possibly damaging |
Het |
| Amdhd1 |
T |
A |
10: 93,370,346 (GRCm39) |
E164V |
possibly damaging |
Het |
| Arhgap5 |
T |
C |
12: 52,604,275 (GRCm39) |
L29S |
probably damaging |
Het |
| Asb5 |
G |
A |
8: 55,038,031 (GRCm39) |
D185N |
probably benign |
Het |
| Ascc3 |
T |
C |
10: 50,576,595 (GRCm39) |
I850T |
probably damaging |
Het |
| Atxn1 |
A |
G |
13: 45,711,024 (GRCm39) |
V636A |
probably damaging |
Het |
| Bmp4 |
C |
T |
14: 46,623,381 (GRCm39) |
R55Q |
probably damaging |
Het |
| Brd8dc |
T |
C |
18: 34,714,005 (GRCm39) |
R207G |
probably damaging |
Het |
| Cmas |
T |
C |
6: 142,710,157 (GRCm39) |
|
probably null |
Het |
| Dchs1 |
T |
C |
7: 105,420,827 (GRCm39) |
D531G |
possibly damaging |
Het |
| Etv1 |
T |
C |
12: 38,877,792 (GRCm39) |
L44P |
probably damaging |
Het |
| Fam13c |
T |
A |
10: 70,387,580 (GRCm39) |
I448N |
probably damaging |
Het |
| Fcsk |
T |
C |
8: 111,618,766 (GRCm39) |
T331A |
probably benign |
Het |
| Fut8 |
A |
G |
12: 77,412,054 (GRCm39) |
K135E |
probably benign |
Het |
| Gabrg1 |
A |
G |
5: 70,911,516 (GRCm39) |
F370S |
probably damaging |
Het |
| Ighv1-5 |
A |
T |
12: 114,477,143 (GRCm39) |
M53K |
probably damaging |
Het |
| Igkv9-120 |
G |
T |
6: 68,027,351 (GRCm39) |
R88S |
possibly damaging |
Het |
| Kansl1l |
A |
G |
1: 66,840,292 (GRCm39) |
V336A |
probably damaging |
Het |
| Krt27 |
T |
A |
11: 99,240,351 (GRCm39) |
D189V |
probably damaging |
Het |
| Marf1 |
A |
T |
16: 13,949,461 (GRCm39) |
F1033I |
possibly damaging |
Het |
| Mdfi |
G |
A |
17: 48,135,475 (GRCm39) |
T85M |
probably damaging |
Het |
| Mrgpra3 |
C |
A |
7: 47,239,476 (GRCm39) |
R150L |
possibly damaging |
Het |
| Mst1r |
C |
A |
9: 107,788,849 (GRCm39) |
T456K |
probably damaging |
Het |
| Myh14 |
A |
T |
7: 44,263,099 (GRCm39) |
M1734K |
probably benign |
Het |
| Myo1e |
T |
C |
9: 70,277,751 (GRCm39) |
I816T |
possibly damaging |
Het |
| Or7d10 |
A |
C |
9: 19,831,841 (GRCm39) |
N112T |
possibly damaging |
Het |
| Or8b12 |
T |
C |
9: 37,658,177 (GRCm39) |
L249P |
probably damaging |
Het |
| Or8b55 |
T |
A |
9: 38,727,245 (GRCm39) |
Y149N |
probably damaging |
Het |
| Or8k28 |
A |
T |
2: 86,285,994 (GRCm39) |
L207* |
probably null |
Het |
| Pde4d |
A |
G |
13: 110,070,408 (GRCm39) |
R6G |
probably damaging |
Het |
| Pilrb1 |
G |
A |
5: 137,855,788 (GRCm39) |
|
probably benign |
Het |
| Prrx1 |
A |
G |
1: 163,085,334 (GRCm39) |
Y199H |
probably damaging |
Het |
| Rxfp1 |
T |
C |
3: 79,594,175 (GRCm39) |
D73G |
probably damaging |
Het |
| Ryr1 |
G |
T |
7: 28,704,246 (GRCm39) |
|
probably benign |
Het |
| Shprh |
A |
G |
10: 11,057,284 (GRCm39) |
E1068G |
probably damaging |
Het |
| Slc19a3 |
G |
A |
1: 83,000,834 (GRCm39) |
T61I |
probably damaging |
Het |
| Suclg2 |
T |
G |
6: 95,543,469 (GRCm39) |
I321L |
probably damaging |
Het |
| Top3a |
A |
G |
11: 60,653,316 (GRCm39) |
F53L |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,599,110 (GRCm39) |
|
probably benign |
Het |
| Upp2 |
T |
C |
2: 58,667,907 (GRCm39) |
V182A |
probably damaging |
Het |
| Vmn2r65 |
A |
G |
7: 84,596,602 (GRCm39) |
L151P |
probably damaging |
Het |
| Xylt2 |
T |
C |
11: 94,561,298 (GRCm39) |
D155G |
probably benign |
Het |
| Zzz3 |
A |
G |
3: 152,154,420 (GRCm39) |
D557G |
probably damaging |
Het |
|
| Other mutations in Slc9a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Slc9a2
|
APN |
1 |
40,806,897 (GRCm39) |
missense |
probably benign |
|
|
IGL00487:Slc9a2
|
APN |
1 |
40,781,818 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00500:Slc9a2
|
APN |
1 |
40,802,743 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01445:Slc9a2
|
APN |
1 |
40,757,970 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02060:Slc9a2
|
APN |
1 |
40,795,453 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02813:Slc9a2
|
APN |
1 |
40,781,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02894:Slc9a2
|
APN |
1 |
40,802,762 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02939:Slc9a2
|
APN |
1 |
40,781,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03193:Slc9a2
|
APN |
1 |
40,795,431 (GRCm39) |
missense |
probably benign |
0.00 |
|
putty
|
UTSW |
1 |
40,781,813 (GRCm39) |
nonsense |
probably null |
|
|
E0370:Slc9a2
|
UTSW |
1 |
40,802,701 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
PIT4377001:Slc9a2
|
UTSW |
1 |
40,783,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0009:Slc9a2
|
UTSW |
1 |
40,802,762 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0009:Slc9a2
|
UTSW |
1 |
40,802,762 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0152:Slc9a2
|
UTSW |
1 |
40,781,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0374:Slc9a2
|
UTSW |
1 |
40,783,017 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1386:Slc9a2
|
UTSW |
1 |
40,758,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1485:Slc9a2
|
UTSW |
1 |
40,765,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1712:Slc9a2
|
UTSW |
1 |
40,802,770 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1779:Slc9a2
|
UTSW |
1 |
40,781,803 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2051:Slc9a2
|
UTSW |
1 |
40,765,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2166:Slc9a2
|
UTSW |
1 |
40,781,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2513:Slc9a2
|
UTSW |
1 |
40,781,768 (GRCm39) |
splice site |
probably null |
|
|
R3612:Slc9a2
|
UTSW |
1 |
40,758,218 (GRCm39) |
splice site |
probably null |
|
|
R4631:Slc9a2
|
UTSW |
1 |
40,801,078 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4760:Slc9a2
|
UTSW |
1 |
40,801,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4769:Slc9a2
|
UTSW |
1 |
40,765,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4815:Slc9a2
|
UTSW |
1 |
40,758,009 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4920:Slc9a2
|
UTSW |
1 |
40,794,878 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5191:Slc9a2
|
UTSW |
1 |
40,783,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5963:Slc9a2
|
UTSW |
1 |
40,721,196 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6322:Slc9a2
|
UTSW |
1 |
40,781,813 (GRCm39) |
nonsense |
probably null |
|
|
R6453:Slc9a2
|
UTSW |
1 |
40,781,781 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6685:Slc9a2
|
UTSW |
1 |
40,758,069 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7088:Slc9a2
|
UTSW |
1 |
40,765,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7302:Slc9a2
|
UTSW |
1 |
40,806,828 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7450:Slc9a2
|
UTSW |
1 |
40,720,995 (GRCm39) |
start gained |
probably benign |
|
|
R7670:Slc9a2
|
UTSW |
1 |
40,758,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7970:Slc9a2
|
UTSW |
1 |
40,765,374 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8104:Slc9a2
|
UTSW |
1 |
40,757,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8776:Slc9a2
|
UTSW |
1 |
40,781,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8776-TAIL:Slc9a2
|
UTSW |
1 |
40,781,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8887:Slc9a2
|
UTSW |
1 |
40,758,009 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9028:Slc9a2
|
UTSW |
1 |
40,765,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9189:Slc9a2
|
UTSW |
1 |
40,794,944 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9245:Slc9a2
|
UTSW |
1 |
40,805,460 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9250:Slc9a2
|
UTSW |
1 |
40,806,987 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9400:Slc9a2
|
UTSW |
1 |
40,758,211 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9512:Slc9a2
|
UTSW |
1 |
40,721,258 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9583:Slc9a2
|
UTSW |
1 |
40,721,061 (GRCm39) |
missense |
probably benign |
|
|
X0054:Slc9a2
|
UTSW |
1 |
40,781,847 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Slc9a2
|
UTSW |
1 |
40,806,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCCCTCAGGTCCTGTACAAC -3'
(R):5'- CAGCTCCACATTGCAGTAGC -3'
Sequencing Primer
(F):5'- CAGGTCCTGTACAACTTGTTCAAG -3'
(R):5'- CTTTCATTTCGGTGTAACAAAAGG -3'
|
| Posted On |
2015-12-21 |
Incidental Mutation