Incidental Mutation 'R5368:Kirrel3'
| ID |
429483 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kirrel3
|
| Ensembl Gene |
ENSMUSG00000032036 |
| Gene Name |
kirre like nephrin family adhesion molecule 3 |
| Synonyms |
2900036G11Rik, Neph2, 1500010O20Rik |
| MMRRC Submission |
043204-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.183)
|
| Stock # |
R5368 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
34397190-34948012 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34919034 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 230
(E230G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139418
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045091]
[ENSMUST00000115148]
[ENSMUST00000187182]
[ENSMUST00000187625]
[ENSMUST00000188933]
[ENSMUST00000190549]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045091
AA Change: E230G
PolyPhen 2
Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000048863
Gene: ENSMUSG00000032036
AA Change: E230G
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
21 |
111 |
1.35e-9 |
SMART |
|
IG
|
122 |
214 |
2.56e-1 |
SMART |
|
Pfam:Ig_2
|
217 |
298 |
2.1e-6 |
PFAM |
|
IGc2
|
314 |
372 |
1.66e-9 |
SMART |
|
IG
|
392 |
484 |
1.06e-2 |
SMART |
|
transmembrane domain
|
491 |
513 |
N/A |
INTRINSIC |
|
low complexity region
|
568 |
581 |
N/A |
INTRINSIC |
|
low complexity region
|
700 |
717 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115148
AA Change: E263G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110801
Gene: ENSMUSG00000032036
AA Change: E263G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
IG
|
54 |
144 |
1.35e-9 |
SMART |
|
IG
|
155 |
247 |
2.56e-1 |
SMART |
|
Pfam:Ig_3
|
249 |
318 |
7.2e-6 |
PFAM |
|
IGc2
|
347 |
405 |
1.66e-9 |
SMART |
|
IG
|
425 |
517 |
1.06e-2 |
SMART |
|
transmembrane domain
|
524 |
546 |
N/A |
INTRINSIC |
|
low complexity region
|
601 |
614 |
N/A |
INTRINSIC |
|
low complexity region
|
733 |
750 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187182
AA Change: E237G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140219
Gene: ENSMUSG00000032036
AA Change: E237G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IG
|
28 |
118 |
1.35e-9 |
SMART |
|
IG
|
129 |
221 |
2.56e-1 |
SMART |
|
Pfam:Ig_2
|
224 |
305 |
2.3e-6 |
PFAM |
|
IGc2
|
321 |
379 |
1.66e-9 |
SMART |
|
IG
|
399 |
491 |
1.06e-2 |
SMART |
|
transmembrane domain
|
510 |
532 |
N/A |
INTRINSIC |
|
low complexity region
|
612 |
625 |
N/A |
INTRINSIC |
|
low complexity region
|
744 |
761 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000187625
AA Change: E230G
PolyPhen 2
Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139951
Gene: ENSMUSG00000032036
AA Change: E230G
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
21 |
111 |
1.35e-9 |
SMART |
|
IG
|
122 |
214 |
2.56e-1 |
SMART |
|
Pfam:Ig_2
|
217 |
298 |
2.1e-6 |
PFAM |
|
IGc2
|
314 |
372 |
1.66e-9 |
SMART |
|
IG
|
392 |
484 |
1.06e-2 |
SMART |
|
transmembrane domain
|
491 |
513 |
N/A |
INTRINSIC |
|
low complexity region
|
568 |
581 |
N/A |
INTRINSIC |
|
low complexity region
|
700 |
717 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188933
AA Change: E230G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139418
Gene: ENSMUSG00000032036
AA Change: E230G
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
21 |
111 |
5.7e-12 |
SMART |
|
IG
|
122 |
214 |
1.1e-3 |
SMART |
|
Pfam:Ig_2
|
217 |
298 |
3.7e-5 |
PFAM |
|
IGc2
|
314 |
372 |
6.8e-12 |
SMART |
|
IG
|
392 |
484 |
4.5e-5 |
SMART |
|
transmembrane domain
|
503 |
525 |
N/A |
INTRINSIC |
|
low complexity region
|
580 |
593 |
N/A |
INTRINSIC |
|
low complexity region
|
712 |
729 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190549
AA Change: E230G
PolyPhen 2
Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000139714
Gene: ENSMUSG00000032036
AA Change: E230G
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
21 |
111 |
5.7e-12 |
SMART |
|
IG
|
122 |
214 |
1.1e-3 |
SMART |
|
Pfam:Ig_2
|
217 |
298 |
2.6e-5 |
PFAM |
|
IGc2
|
314 |
372 |
6.8e-12 |
SMART |
|
IG
|
392 |
484 |
4.5e-5 |
SMART |
|
transmembrane domain
|
491 |
513 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1639 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
97% (61/63) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the nephrin-like protein family. These proteins are expressed in fetal and adult brain, and also in podocytes of kidney glomeruli. The cytoplasmic domains of these proteins interact with the C-terminus of podocin, also expressed in the podocytes, cells involved in ensuring size- and charge-selective ultrafiltration. Mutations in this gene are associated with mental retardation autosomal dominant type 4 (MRD4). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired accessory olfactory bulb formation with reduced coalescence of vomeronasal sensory neuron axons in the posterior accessory olfactory bulb, loss of male-male aggression and abnormal male sexual response to a male intruder mouse. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
T |
A |
7: 130,740,925 (GRCm39) |
H97L |
possibly damaging |
Het |
| Abca9 |
T |
A |
11: 110,036,372 (GRCm39) |
N579I |
probably damaging |
Het |
| Acbd3 |
A |
T |
1: 180,549,660 (GRCm39) |
|
probably benign |
Het |
| Ankrd50 |
A |
T |
3: 38,509,199 (GRCm39) |
I1056N |
probably damaging |
Het |
| Ceacam18 |
T |
C |
7: 43,291,458 (GRCm39) |
V300A |
probably benign |
Het |
| Cfap46 |
C |
A |
7: 139,207,389 (GRCm39) |
R1843S |
possibly damaging |
Het |
| D430041D05Rik |
A |
G |
2: 104,078,629 (GRCm39) |
V1229A |
probably damaging |
Het |
| Dbx2 |
G |
A |
15: 95,538,522 (GRCm39) |
S206L |
probably benign |
Het |
| Dnah11 |
A |
T |
12: 117,918,628 (GRCm39) |
D1530E |
probably damaging |
Het |
| Ecm2 |
A |
C |
13: 49,674,419 (GRCm39) |
T280P |
probably benign |
Het |
| Emc2 |
G |
A |
15: 43,375,207 (GRCm39) |
|
probably null |
Het |
| Epb42 |
C |
T |
2: 120,849,943 (GRCm39) |
V689I |
probably benign |
Het |
| Fam114a1 |
T |
A |
5: 65,163,452 (GRCm39) |
M209K |
possibly damaging |
Het |
| Fam117a |
C |
T |
11: 95,266,459 (GRCm39) |
S193F |
probably damaging |
Het |
| Foxp2 |
A |
T |
6: 15,377,913 (GRCm39) |
|
probably benign |
Het |
| Frmd6 |
T |
A |
12: 70,910,874 (GRCm39) |
C19* |
probably null |
Het |
| Fyb1 |
A |
G |
15: 6,610,159 (GRCm39) |
|
probably null |
Het |
| Gata6 |
C |
A |
18: 11,063,059 (GRCm39) |
H442Q |
possibly damaging |
Het |
| Gldc |
A |
G |
19: 30,135,921 (GRCm39) |
S160P |
probably benign |
Het |
| Gm3952 |
A |
G |
8: 129,472,455 (GRCm39) |
S1626P |
possibly damaging |
Het |
| Gm9762 |
T |
A |
3: 78,873,742 (GRCm39) |
|
noncoding transcript |
Het |
| Gtpbp2 |
T |
C |
17: 46,477,230 (GRCm39) |
|
probably benign |
Het |
| Hgd |
A |
T |
16: 37,410,113 (GRCm39) |
T50S |
probably benign |
Het |
| Itpr1 |
C |
T |
6: 108,364,459 (GRCm39) |
T22M |
probably damaging |
Het |
| Kif26b |
G |
A |
1: 178,743,449 (GRCm39) |
E1182K |
probably damaging |
Het |
| Leng8 |
A |
G |
7: 4,142,987 (GRCm39) |
Y88C |
probably damaging |
Het |
| Lpo |
T |
C |
11: 87,711,895 (GRCm39) |
D54G |
possibly damaging |
Het |
| Lypd2 |
G |
T |
15: 74,604,908 (GRCm39) |
A29E |
probably benign |
Het |
| Mdn1 |
C |
T |
4: 32,723,690 (GRCm39) |
P2542L |
probably damaging |
Het |
| Mical3 |
T |
C |
6: 120,936,434 (GRCm39) |
Y1364C |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,935,054 (GRCm39) |
N163S |
probably damaging |
Het |
| Mtf1 |
G |
A |
4: 124,718,872 (GRCm39) |
C295Y |
probably damaging |
Het |
| Nbn |
T |
A |
4: 15,969,391 (GRCm39) |
L212Q |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,959,852 (GRCm39) |
|
probably null |
Het |
| Or10ag56 |
T |
A |
2: 87,139,126 (GRCm39) |
|
probably null |
Het |
| Or4c110 |
A |
G |
2: 88,832,435 (GRCm39) |
S66P |
probably damaging |
Het |
| Peli1 |
A |
G |
11: 21,098,389 (GRCm39) |
T375A |
probably damaging |
Het |
| Picalm |
T |
C |
7: 89,856,803 (GRCm39) |
*611Q |
probably null |
Het |
| Plch1 |
G |
T |
3: 63,609,394 (GRCm39) |
Q938K |
possibly damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,043,796 (GRCm39) |
V1352A |
possibly damaging |
Het |
| Pmepa1 |
G |
A |
2: 173,070,115 (GRCm39) |
R147W |
probably damaging |
Het |
| Prdm16 |
T |
G |
4: 154,429,848 (GRCm39) |
K373Q |
probably damaging |
Het |
| Qki |
T |
G |
17: 10,457,964 (GRCm39) |
E135A |
probably damaging |
Het |
| Rad50 |
T |
C |
11: 53,575,073 (GRCm39) |
K556E |
probably benign |
Het |
| Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
| Sin3a |
T |
A |
9: 57,018,084 (GRCm39) |
D834E |
possibly damaging |
Het |
| Smg8 |
G |
A |
11: 86,971,086 (GRCm39) |
S895L |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,890,686 (GRCm39) |
I1944M |
probably benign |
Het |
| Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
| Tmprss7 |
A |
T |
16: 45,481,252 (GRCm39) |
W645R |
probably damaging |
Het |
| Tns1 |
T |
C |
1: 73,980,176 (GRCm39) |
M1111V |
probably benign |
Het |
| Ttn |
A |
C |
2: 76,608,726 (GRCm39) |
D17763E |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ubr4 |
G |
A |
4: 139,124,839 (GRCm39) |
|
probably benign |
Het |
| Usp31 |
T |
C |
7: 121,260,588 (GRCm39) |
H637R |
probably damaging |
Het |
| Vps50 |
A |
C |
6: 3,567,739 (GRCm39) |
E545A |
possibly damaging |
Het |
| Wdfy3 |
G |
T |
5: 102,020,724 (GRCm39) |
L2527M |
probably damaging |
Het |
| Wfdc2 |
T |
C |
2: 164,405,354 (GRCm39) |
V85A |
possibly damaging |
Het |
|
| Other mutations in Kirrel3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00919:Kirrel3
|
APN |
9 |
34,926,549 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01369:Kirrel3
|
APN |
9 |
34,927,737 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01837:Kirrel3
|
APN |
9 |
34,946,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01950:Kirrel3
|
APN |
9 |
34,939,625 (GRCm39) |
splice site |
probably benign |
|
|
IGL01973:Kirrel3
|
APN |
9 |
34,927,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01994:Kirrel3
|
APN |
9 |
34,931,429 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL03184:Kirrel3
|
APN |
9 |
34,919,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0033:Kirrel3
|
UTSW |
9 |
34,912,259 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0033:Kirrel3
|
UTSW |
9 |
34,912,259 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0038:Kirrel3
|
UTSW |
9 |
34,823,066 (GRCm39) |
splice site |
probably null |
|
|
R0038:Kirrel3
|
UTSW |
9 |
34,823,066 (GRCm39) |
splice site |
probably null |
|
|
R0390:Kirrel3
|
UTSW |
9 |
34,931,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0627:Kirrel3
|
UTSW |
9 |
34,946,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0786:Kirrel3
|
UTSW |
9 |
34,946,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0920:Kirrel3
|
UTSW |
9 |
34,939,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0962:Kirrel3
|
UTSW |
9 |
34,912,293 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1716:Kirrel3
|
UTSW |
9 |
34,934,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2010:Kirrel3
|
UTSW |
9 |
34,850,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4289:Kirrel3
|
UTSW |
9 |
34,934,769 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4888:Kirrel3
|
UTSW |
9 |
34,924,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4970:Kirrel3
|
UTSW |
9 |
34,855,735 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5121:Kirrel3
|
UTSW |
9 |
34,924,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5572:Kirrel3
|
UTSW |
9 |
34,912,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5707:Kirrel3
|
UTSW |
9 |
34,924,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6302:Kirrel3
|
UTSW |
9 |
34,919,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6449:Kirrel3
|
UTSW |
9 |
34,902,269 (GRCm39) |
missense |
probably benign |
|
|
R6908:Kirrel3
|
UTSW |
9 |
34,924,697 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6967:Kirrel3
|
UTSW |
9 |
34,946,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7578:Kirrel3
|
UTSW |
9 |
34,850,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7861:Kirrel3
|
UTSW |
9 |
34,931,419 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8094:Kirrel3
|
UTSW |
9 |
34,946,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8383:Kirrel3
|
UTSW |
9 |
34,941,179 (GRCm39) |
missense |
probably null |
0.89 |
|
R8494:Kirrel3
|
UTSW |
9 |
34,902,341 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8878:Kirrel3
|
UTSW |
9 |
34,850,561 (GRCm39) |
splice site |
probably benign |
|
|
R8955:Kirrel3
|
UTSW |
9 |
34,855,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9140:Kirrel3
|
UTSW |
9 |
34,924,596 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTAGGGAGCAAAGTCGC -3'
(R):5'- AAGAGAGTGTCTGCTTGGCC -3'
Sequencing Primer
(F):5'- AGCAAAGTCGCCTCCTGATGAG -3'
(R):5'- AGAGTGTCTGCTTGGCCAGTAG -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation