Incidental Mutation 'R4289:Kirrel3'
| ID |
322338 |
| 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 |
041654-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.203)
|
| Stock # |
R4289 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
34397190-34948012 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34934769 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 73
(N73I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140086
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045091]
[ENSMUST00000115148]
[ENSMUST00000187182]
[ENSMUST00000187625]
[ENSMUST00000188658]
[ENSMUST00000188933]
[ENSMUST00000190549]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045091
AA Change: N425I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000048863
Gene: ENSMUSG00000032036
AA Change: N425I
| 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 benign
Transcript: ENSMUST00000115148
AA Change: N458I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000110801
Gene: ENSMUSG00000032036
AA Change: N458I
| 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 benign
Transcript: ENSMUST00000187182
AA Change: N432I
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000140219
Gene: ENSMUSG00000032036
AA Change: N432I
| 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 |
probably benign
Transcript: ENSMUST00000187625
AA Change: N425I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139951
Gene: ENSMUSG00000032036
AA Change: N425I
| 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 benign
Transcript: ENSMUST00000188658
AA Change: N73I
PolyPhen 2
Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000140086
Gene: ENSMUSG00000032036
AA Change: N73I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ig_2
|
1 |
31 |
1.4e-1 |
PFAM |
|
IG
|
40 |
132 |
4.5e-5 |
SMART |
|
transmembrane domain
|
151 |
173 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188933
AA Change: N425I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139418
Gene: ENSMUSG00000032036
AA Change: N425I
| 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: N425I
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000139714
Gene: ENSMUSG00000032036
AA Change: N425I
| 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 |
0.1668 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (56/56) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6a |
C |
T |
3: 32,766,263 (GRCm39) |
T39M |
possibly damaging |
Het |
| Arhgdib |
T |
C |
6: 136,901,156 (GRCm39) |
N191S |
probably benign |
Het |
| Arhgef39 |
A |
G |
4: 43,497,353 (GRCm39) |
|
probably benign |
Het |
| Baz1a |
G |
A |
12: 54,947,233 (GRCm39) |
R1139C |
probably damaging |
Het |
| Cdhr5 |
A |
T |
7: 140,852,752 (GRCm39) |
I78N |
probably damaging |
Het |
| Cfap97 |
T |
A |
8: 46,645,698 (GRCm39) |
N525K |
probably benign |
Het |
| Cntn2 |
T |
A |
1: 132,455,481 (GRCm39) |
Y252F |
probably benign |
Het |
| Cyp3a57 |
G |
A |
5: 145,286,207 (GRCm39) |
G48S |
probably damaging |
Het |
| Cyp4v3 |
A |
C |
8: 45,781,260 (GRCm39) |
F73V |
possibly damaging |
Het |
| Ear10 |
T |
C |
14: 44,160,404 (GRCm39) |
D141G |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,168,411 (GRCm39) |
I2309V |
probably damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,349,531 (GRCm39) |
D102G |
probably benign |
Het |
| Fdxacb1 |
A |
T |
9: 50,683,879 (GRCm39) |
Q614L |
probably damaging |
Het |
| Gm10267 |
T |
C |
18: 44,290,331 (GRCm39) |
T59A |
probably damaging |
Het |
| Gm5581 |
C |
T |
6: 131,144,519 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5592 |
G |
T |
7: 40,808,336 (GRCm39) |
|
probably benign |
Het |
| Gtf2a1l |
A |
G |
17: 89,001,884 (GRCm39) |
T200A |
probably damaging |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Ift122 |
T |
C |
6: 115,900,852 (GRCm39) |
C1057R |
probably damaging |
Het |
| Kndc1 |
A |
G |
7: 139,490,798 (GRCm39) |
I433M |
probably benign |
Het |
| Mks1 |
T |
C |
11: 87,747,530 (GRCm39) |
|
probably benign |
Het |
| Mmp14 |
A |
T |
14: 54,673,665 (GRCm39) |
K110* |
probably null |
Het |
| Mms19 |
A |
G |
19: 41,933,992 (GRCm39) |
L938P |
probably damaging |
Het |
| Mrpl36 |
A |
T |
13: 73,479,777 (GRCm39) |
|
probably null |
Het |
| Mypn |
T |
C |
10: 62,966,961 (GRCm39) |
E905G |
probably damaging |
Het |
| Ncam1 |
G |
T |
9: 49,468,472 (GRCm39) |
T329N |
probably damaging |
Het |
| Nfkbie |
T |
C |
17: 45,869,516 (GRCm39) |
L157P |
probably damaging |
Het |
| Or14c45 |
T |
A |
7: 86,176,262 (GRCm39) |
I99N |
probably damaging |
Het |
| Or4f47 |
T |
A |
2: 111,972,319 (GRCm39) |
S10T |
probably benign |
Het |
| Pappa |
C |
T |
4: 65,074,100 (GRCm39) |
A218V |
probably benign |
Het |
| Plekhg5 |
T |
C |
4: 152,196,884 (GRCm39) |
Y737H |
probably benign |
Het |
| Plod2 |
G |
A |
9: 92,485,041 (GRCm39) |
R514Q |
possibly damaging |
Het |
| Plxnb1 |
C |
T |
9: 108,943,420 (GRCm39) |
R1888W |
probably damaging |
Het |
| Prss45 |
A |
G |
9: 110,669,997 (GRCm39) |
T269A |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,681,151 (GRCm39) |
T784A |
probably damaging |
Het |
| Pycr3 |
T |
C |
15: 75,790,655 (GRCm39) |
N68S |
probably benign |
Het |
| Rbis |
T |
C |
3: 14,674,714 (GRCm39) |
M1V |
probably null |
Het |
| Rdh14 |
A |
T |
12: 10,444,949 (GRCm39) |
N267Y |
probably benign |
Het |
| Rph3a |
G |
A |
5: 121,111,368 (GRCm39) |
R71C |
probably damaging |
Het |
| Sall2 |
C |
A |
14: 52,551,260 (GRCm39) |
R643L |
probably damaging |
Het |
| Spata13 |
T |
A |
14: 60,928,523 (GRCm39) |
V27E |
probably damaging |
Het |
| Tbc1d1 |
T |
A |
5: 64,417,771 (GRCm39) |
S312T |
probably damaging |
Het |
| Tcp11l2 |
T |
C |
10: 84,440,937 (GRCm39) |
|
probably null |
Het |
| Trdn |
C |
T |
10: 33,340,578 (GRCm39) |
S604L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,640,742 (GRCm39) |
T13669A |
probably benign |
Het |
| Tyw3 |
A |
T |
3: 154,302,645 (GRCm39) |
F30I |
probably damaging |
Het |
| Vmn1r227 |
G |
T |
17: 20,956,092 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r74 |
C |
T |
7: 85,606,562 (GRCm39) |
M261I |
probably benign |
Het |
| Zfp217 |
C |
T |
2: 169,956,707 (GRCm39) |
G764S |
probably benign |
Het |
| Zfp267 |
A |
G |
3: 36,213,747 (GRCm39) |
N27S |
possibly damaging |
Het |
| Zfp748 |
T |
A |
13: 67,689,202 (GRCm39) |
H686L |
probably 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 |
|
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 |
|
R5368:Kirrel3
|
UTSW |
9 |
34,919,034 (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'- GTTACTGCATGATAATGTGCTAGTG -3'
(R):5'- CACCTTGTTCCTTGAGTCGG -3'
Sequencing Primer
(F):5'- CATGATAATGTGCTAGTGTGGGTTG -3'
(R):5'- ACCTTGTTCCTTGAGTCGGATGATC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation