Incidental Mutation 'R0987:Kirrel2'
| ID |
97278 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kirrel2
|
| Ensembl Gene |
ENSMUSG00000036915 |
| Gene Name |
kirre like nephrin family adhesion molecule 2 |
| Synonyms |
C330019F22Rik, NEPH3 |
| MMRRC Submission |
039107-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R0987 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
30146959-30157115 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30147555 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 698
(T698A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039395
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006828]
[ENSMUST00000045817]
|
| AlphaFold |
Q7TSU7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006828
|
| SMART Domains |
Protein: ENSMUSP00000006828
Gene: ENSMUSG00000006651
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
38 |
N/A |
INTRINSIC |
|
A4_EXTRA
|
46 |
211 |
1.72e-114 |
SMART |
|
low complexity region
|
234 |
247 |
N/A |
INTRINSIC |
|
low complexity region
|
259 |
277 |
N/A |
INTRINSIC |
|
Pfam:APP_E2
|
289 |
471 |
9.3e-72 |
PFAM |
|
Pfam:APP_amyloid
|
600 |
651 |
9.4e-25 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045817
AA Change: T698A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039395
Gene: ENSMUSG00000036915
AA Change: T698A
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
27 |
117 |
9.18e-12 |
SMART |
|
IG
|
128 |
219 |
5.13e-1 |
SMART |
|
IG_like
|
230 |
306 |
8.06e0 |
SMART |
|
IGc2
|
321 |
379 |
3.06e-8 |
SMART |
|
IG_like
|
401 |
500 |
4.65e1 |
SMART |
|
transmembrane domain
|
509 |
531 |
N/A |
INTRINSIC |
|
low complexity region
|
547 |
565 |
N/A |
INTRINSIC |
|
low complexity region
|
607 |
629 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140565
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000170152
AA Change: T172A
|
| SMART Domains |
Protein: ENSMUSP00000132652
Gene: ENSMUSG00000036915
AA Change: T172A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
104 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208792
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209054
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.4%
- 20x: 87.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type I transmembrane protein and member of the immunoglobulin superfamily of cell adhesion molecules. The encoded protein localizes to adherens junctions in pancreatic beta cells and regulates insulin secretion. Autoantibodies against the encoded protein have been detected in serum from patients with type 1 diabetes. This gene may also play a role in glomerular development and decreased expression of this gene has been observed in human glomerular diseases. This gene and the related opposite-strand gene nephrin (GeneID: 527362) are regulated by a bidirectional promoter. [provided by RefSeq, Jul 2016]
PHENOTYPE: No notable phenotype was detected in a high-throughput screen of homozygous null mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm1 |
T |
A |
4: 144,246,502 (GRCm39) |
V16D |
possibly damaging |
Het |
| Cacng6 |
C |
T |
7: 3,479,020 (GRCm39) |
T133I |
probably damaging |
Het |
| Car6 |
A |
G |
4: 150,281,800 (GRCm39) |
I71T |
probably damaging |
Het |
| Crem |
A |
T |
18: 3,288,060 (GRCm39) |
S178T |
probably damaging |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Fcgbp |
G |
T |
7: 27,793,599 (GRCm39) |
C1167F |
probably damaging |
Het |
| Glipr1l1 |
A |
G |
10: 111,914,340 (GRCm39) |
S234G |
probably benign |
Het |
| Igsf9b |
T |
C |
9: 27,243,849 (GRCm39) |
|
probably null |
Het |
| Kif26b |
T |
C |
1: 178,649,185 (GRCm39) |
L435P |
probably damaging |
Het |
| Lrrc9 |
T |
C |
12: 72,557,156 (GRCm39) |
V1407A |
probably benign |
Het |
| Mau2 |
T |
C |
8: 70,480,348 (GRCm39) |
D275G |
probably damaging |
Het |
| Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
| Notch2 |
T |
C |
3: 98,041,993 (GRCm39) |
|
probably null |
Het |
| Nr0b2 |
G |
A |
4: 133,283,503 (GRCm39) |
V247I |
probably benign |
Het |
| Or4c11 |
A |
T |
2: 88,695,527 (GRCm39) |
I193L |
probably benign |
Het |
| Or5l13 |
G |
A |
2: 87,779,891 (GRCm39) |
R229C |
probably benign |
Het |
| Or8k28 |
A |
T |
2: 86,285,891 (GRCm39) |
C241* |
probably null |
Het |
| Pigf |
A |
G |
17: 87,304,973 (GRCm39) |
L190P |
probably damaging |
Het |
| Rasef |
A |
T |
4: 73,652,721 (GRCm39) |
C593* |
probably null |
Het |
| Tex15 |
T |
G |
8: 34,066,875 (GRCm39) |
W2102G |
probably damaging |
Het |
| Tmbim1 |
T |
C |
1: 74,333,083 (GRCm39) |
|
probably null |
Het |
| Tmem183a |
A |
T |
1: 134,280,109 (GRCm39) |
F257Y |
probably damaging |
Het |
| Zbtb11 |
A |
G |
16: 55,811,071 (GRCm39) |
T410A |
probably benign |
Het |
| Zzef1 |
TGCGTGGGAACCCGC |
TGC |
11: 72,792,159 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Kirrel2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02162:Kirrel2
|
APN |
7 |
30,153,089 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02457:Kirrel2
|
APN |
7 |
30,152,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02609:Kirrel2
|
APN |
7 |
30,147,765 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0029:Kirrel2
|
UTSW |
7 |
30,152,590 (GRCm39) |
unclassified |
probably benign |
|
|
R0395:Kirrel2
|
UTSW |
7 |
30,149,883 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1511:Kirrel2
|
UTSW |
7 |
30,155,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2226:Kirrel2
|
UTSW |
7 |
30,153,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4818:Kirrel2
|
UTSW |
7 |
30,149,293 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4963:Kirrel2
|
UTSW |
7 |
30,150,226 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6918:Kirrel2
|
UTSW |
7 |
30,150,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6985:Kirrel2
|
UTSW |
7 |
30,154,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6995:Kirrel2
|
UTSW |
7 |
30,154,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7014:Kirrel2
|
UTSW |
7 |
30,153,999 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8254:Kirrel2
|
UTSW |
7 |
30,149,801 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8363:Kirrel2
|
UTSW |
7 |
30,152,968 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9061:Kirrel2
|
UTSW |
7 |
30,150,305 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9066:Kirrel2
|
UTSW |
7 |
30,153,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9099:Kirrel2
|
UTSW |
7 |
30,147,642 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9445:Kirrel2
|
UTSW |
7 |
30,150,260 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1176:Kirrel2
|
UTSW |
7 |
30,152,882 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Kirrel2
|
UTSW |
7 |
30,152,171 (GRCm39) |
missense |
probably benign |
0.34 |
|
Z1186:Kirrel2
|
UTSW |
7 |
30,147,622 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGCGGCCATATTGCTCCCAC -3'
(R):5'- AGCCACATCTGGACTTAGTCCCTC -3'
Sequencing Primer
(F):5'- ACTTGGAGAATCCACTTTGGC -3'
(R):5'- GGACTTAGTCCCTCCCTGC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation