Incidental Mutation 'IGL01369:Kirrel3'
ID |
76056 |
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 # |
IGL01369
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
34397190-34948012 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 34927737 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 382
(T382I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110801
(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: T349I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000048863 Gene: ENSMUSG00000032036 AA Change: T349I
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: T382I
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000110801 Gene: ENSMUSG00000032036 AA Change: T382I
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: T356I
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000140219 Gene: ENSMUSG00000032036 AA Change: T356I
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: T349I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000139951 Gene: ENSMUSG00000032036 AA Change: T349I
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
AA Change: T349I
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000139418 Gene: ENSMUSG00000032036 AA Change: T349I
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: T349I
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000139714 Gene: ENSMUSG00000032036 AA Change: T349I
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm4 |
T |
C |
4: 144,401,215 (GRCm39) |
T90A |
possibly damaging |
Het |
Abi2 |
A |
G |
1: 60,476,215 (GRCm39) |
T96A |
probably damaging |
Het |
Adam34 |
T |
A |
8: 44,104,094 (GRCm39) |
K517M |
probably benign |
Het |
Atm |
A |
T |
9: 53,426,617 (GRCm39) |
I547N |
probably benign |
Het |
Cadm4 |
A |
T |
7: 24,198,947 (GRCm39) |
D74V |
possibly damaging |
Het |
Caprin1 |
G |
A |
2: 103,599,210 (GRCm39) |
P46S |
probably damaging |
Het |
Cbl |
A |
T |
9: 44,112,358 (GRCm39) |
Y112* |
probably null |
Het |
Ccdc180 |
T |
C |
4: 45,900,256 (GRCm39) |
V246A |
probably benign |
Het |
Chd1 |
A |
T |
17: 15,975,259 (GRCm39) |
E1103V |
probably damaging |
Het |
Clock |
G |
A |
5: 76,384,933 (GRCm39) |
P428L |
probably benign |
Het |
Cntn2 |
T |
A |
1: 132,443,843 (GRCm39) |
I979F |
probably benign |
Het |
Col2a1 |
A |
G |
15: 97,875,707 (GRCm39) |
S1193P |
unknown |
Het |
Fga |
A |
T |
3: 82,937,507 (GRCm39) |
Y128F |
probably benign |
Het |
Glyr1 |
A |
T |
16: 4,838,152 (GRCm39) |
D365E |
probably benign |
Het |
Gmppb |
G |
A |
9: 107,928,446 (GRCm39) |
|
probably null |
Het |
Gmps |
A |
T |
3: 63,909,013 (GRCm39) |
H505L |
probably benign |
Het |
Hexim2 |
A |
G |
11: 103,029,464 (GRCm39) |
N172S |
probably benign |
Het |
Hmgcr |
T |
C |
13: 96,803,030 (GRCm39) |
E65G |
probably null |
Het |
Hsd17b4 |
T |
C |
18: 50,305,100 (GRCm39) |
S446P |
possibly damaging |
Het |
Klra7 |
A |
T |
6: 130,203,498 (GRCm39) |
Y169* |
probably null |
Het |
Lmbrd1 |
T |
C |
1: 24,745,055 (GRCm39) |
|
probably benign |
Het |
Loxhd1 |
A |
G |
18: 77,416,897 (GRCm39) |
E211G |
possibly damaging |
Het |
Maf1 |
T |
A |
15: 76,236,892 (GRCm39) |
F44I |
probably damaging |
Het |
Mmd2 |
A |
G |
5: 142,560,984 (GRCm39) |
S84P |
probably damaging |
Het |
Morc2b |
T |
C |
17: 33,357,139 (GRCm39) |
E211G |
probably benign |
Het |
Mov10l1 |
T |
C |
15: 88,909,040 (GRCm39) |
|
probably benign |
Het |
Mycbp2 |
C |
A |
14: 103,392,946 (GRCm39) |
C3205F |
possibly damaging |
Het |
Myg1 |
G |
A |
15: 102,242,773 (GRCm39) |
V155M |
probably benign |
Het |
Ncam2 |
A |
G |
16: 81,258,459 (GRCm39) |
N247S |
probably benign |
Het |
Nek11 |
A |
G |
9: 105,177,259 (GRCm39) |
|
probably null |
Het |
Nt5dc3 |
T |
A |
10: 86,656,139 (GRCm39) |
|
probably benign |
Het |
Nudcd3 |
A |
G |
11: 6,100,551 (GRCm39) |
Y134H |
probably damaging |
Het |
Ogfod1 |
T |
C |
8: 94,789,719 (GRCm39) |
|
probably null |
Het |
Or5b99 |
A |
T |
19: 12,977,125 (GRCm39) |
L258F |
possibly damaging |
Het |
Orm2 |
T |
C |
4: 63,281,215 (GRCm39) |
V51A |
probably benign |
Het |
P2ry14 |
T |
C |
3: 59,022,756 (GRCm39) |
I244V |
probably damaging |
Het |
Poll |
A |
G |
19: 45,542,115 (GRCm39) |
V397A |
probably damaging |
Het |
Ppdpf |
C |
A |
2: 180,829,687 (GRCm39) |
|
probably benign |
Het |
Ptch1 |
T |
C |
13: 63,659,495 (GRCm39) |
E1249G |
probably benign |
Het |
Rdh16f1 |
C |
A |
10: 127,595,844 (GRCm39) |
T13K |
probably benign |
Het |
Rrp1 |
G |
A |
10: 78,240,905 (GRCm39) |
|
probably benign |
Het |
Sec14l2 |
A |
G |
11: 4,053,432 (GRCm39) |
M346T |
probably benign |
Het |
Sh2d2a |
A |
T |
3: 87,759,136 (GRCm39) |
Q246L |
probably benign |
Het |
Slc44a1 |
G |
A |
4: 53,491,448 (GRCm39) |
D62N |
probably damaging |
Het |
Snx22 |
A |
G |
9: 65,976,060 (GRCm39) |
Y58H |
probably damaging |
Het |
Spata31f1a |
T |
C |
4: 42,852,548 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
A |
2: 76,599,779 (GRCm39) |
D19104V |
probably damaging |
Het |
Ugt2a3 |
T |
C |
5: 87,474,979 (GRCm39) |
S422G |
probably damaging |
Het |
Zfyve19 |
G |
T |
2: 119,041,094 (GRCm39) |
|
probably benign |
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 |
|
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 |
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 |
2013-10-07 |