Incidental Mutation 'IGL01950:Kirrel3'
ID |
181314 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Kirrel3
|
Ensembl Gene |
ENSMUSG00000032036 |
Gene Name |
kirre like nephrin family adhesion molecule 3 |
Synonyms |
2900036G11Rik, Neph2, 1500010O20Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.183)
|
Stock # |
IGL01950
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
34397190-34948012 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 34939625 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139714
(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
|
SMART Domains |
Protein: ENSMUSP00000048863 Gene: ENSMUSG00000032036
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
|
SMART Domains |
Protein: ENSMUSP00000110801 Gene: ENSMUSG00000032036
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
|
SMART Domains |
Protein: ENSMUSP00000140219 Gene: ENSMUSG00000032036
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
|
SMART Domains |
Protein: ENSMUSP00000139951 Gene: ENSMUSG00000032036
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
|
SMART Domains |
Protein: ENSMUSP00000140086 Gene: ENSMUSG00000032036
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
|
SMART Domains |
Protein: ENSMUSP00000139418 Gene: ENSMUSG00000032036
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
|
SMART Domains |
Protein: ENSMUSP00000139714 Gene: ENSMUSG00000032036
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adm |
G |
A |
7: 110,228,107 (GRCm39) |
R96H |
probably damaging |
Het |
Aebp1 |
C |
T |
11: 5,819,108 (GRCm39) |
T198I |
probably benign |
Het |
Arid3b |
A |
T |
9: 57,702,257 (GRCm39) |
I500N |
probably damaging |
Het |
Clec1b |
T |
A |
6: 129,377,043 (GRCm39) |
W29R |
probably damaging |
Het |
Cyp2e1 |
T |
C |
7: 140,344,874 (GRCm39) |
|
probably null |
Het |
Dnah5 |
A |
G |
15: 28,290,435 (GRCm39) |
E1275G |
probably null |
Het |
Dnajc13 |
A |
T |
9: 104,067,631 (GRCm39) |
I1171N |
possibly damaging |
Het |
Dpf3 |
T |
G |
12: 83,371,723 (GRCm39) |
T171P |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Hk1 |
T |
C |
10: 62,151,173 (GRCm39) |
D57G |
probably damaging |
Het |
Kcnc2 |
T |
G |
10: 112,297,980 (GRCm39) |
|
probably benign |
Het |
Kcnj11 |
A |
T |
7: 45,748,573 (GRCm39) |
F250Y |
probably damaging |
Het |
Lmbrd1 |
T |
C |
1: 24,750,683 (GRCm39) |
|
probably null |
Het |
Mga |
T |
C |
2: 119,772,135 (GRCm39) |
V1665A |
possibly damaging |
Het |
Ms4a3 |
G |
T |
19: 11,610,199 (GRCm39) |
A121E |
probably damaging |
Het |
Nfix |
T |
C |
8: 85,440,415 (GRCm39) |
*392W |
probably null |
Het |
Noxred1 |
C |
T |
12: 87,268,190 (GRCm39) |
V314M |
probably damaging |
Het |
Or2t47 |
A |
T |
11: 58,442,560 (GRCm39) |
C168* |
probably null |
Het |
Or51aa5 |
T |
A |
7: 103,167,472 (GRCm39) |
T40S |
probably benign |
Het |
Phospho1 |
A |
G |
11: 95,719,548 (GRCm39) |
|
probably benign |
Het |
Prr5 |
G |
A |
15: 84,650,550 (GRCm39) |
A237T |
probably benign |
Het |
Rev3l |
C |
T |
10: 39,697,153 (GRCm39) |
T550M |
probably damaging |
Het |
Sbf2 |
A |
G |
7: 109,965,032 (GRCm39) |
F955L |
probably benign |
Het |
Slc38a9 |
C |
T |
13: 112,831,787 (GRCm39) |
T179M |
probably damaging |
Het |
Trpv5 |
T |
G |
6: 41,652,912 (GRCm39) |
D87A |
probably benign |
Het |
Tubgcp5 |
A |
G |
7: 55,455,836 (GRCm39) |
Q288R |
possibly damaging |
Het |
Uqcc1 |
A |
G |
2: 155,700,058 (GRCm39) |
Y172H |
probably damaging |
Het |
Vmn2r23 |
T |
C |
6: 123,718,845 (GRCm39) |
F733L |
possibly damaging |
Het |
Vmn2r71 |
A |
G |
7: 85,264,827 (GRCm39) |
Y53C |
probably damaging |
Het |
Vwa5a |
T |
A |
9: 38,638,266 (GRCm39) |
M263K |
probably damaging |
Het |
Zfp503 |
C |
A |
14: 22,036,488 (GRCm39) |
A143S |
probably benign |
Het |
Zfp958 |
T |
C |
8: 4,678,917 (GRCm39) |
L314P |
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 |
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 |
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 |
|
Posted On |
2014-05-07 |