Incidental Mutation 'IGL03184:Kirrel3'
ID |
412384 |
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 # |
IGL03184
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
34397190-34948012 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 34919052 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 243
(F243S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140219
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045091]
[ENSMUST00000115148]
[ENSMUST00000187182]
[ENSMUST00000187625]
[ENSMUST00000188933]
[ENSMUST00000190549]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045091
AA Change: F236S
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000048863 Gene: ENSMUSG00000032036 AA Change: F236S
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: F269S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110801 Gene: ENSMUSG00000032036 AA Change: F269S
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: F243S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140219 Gene: ENSMUSG00000032036 AA Change: F243S
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 damaging
Transcript: ENSMUST00000187625
AA Change: F236S
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000139951 Gene: ENSMUSG00000032036 AA Change: F236S
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: F236S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000139418 Gene: ENSMUSG00000032036 AA Change: F236S
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 damaging
Transcript: ENSMUST00000190549
AA Change: F236S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000139714 Gene: ENSMUSG00000032036 AA Change: F236S
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
C |
13: 77,471,570 (GRCm39) |
Y992H |
possibly damaging |
Het |
Actmap |
A |
G |
7: 26,896,432 (GRCm39) |
|
probably benign |
Het |
Adcy7 |
T |
A |
8: 89,035,271 (GRCm39) |
D58E |
probably benign |
Het |
Aff2 |
G |
A |
X: 68,810,840 (GRCm39) |
V404M |
possibly damaging |
Het |
Ankhd1 |
T |
A |
18: 36,780,830 (GRCm39) |
L1961M |
probably damaging |
Het |
Brms1l |
T |
C |
12: 55,915,062 (GRCm39) |
*324Q |
probably null |
Het |
Bub1b |
T |
C |
2: 118,440,258 (GRCm39) |
|
probably benign |
Het |
Cacna1b |
A |
G |
2: 24,548,501 (GRCm39) |
|
probably null |
Het |
Clrn1 |
T |
A |
3: 58,753,645 (GRCm39) |
T239S |
probably benign |
Het |
Clta |
T |
C |
4: 44,025,514 (GRCm39) |
Y145H |
probably benign |
Het |
Coro6 |
T |
C |
11: 77,354,779 (GRCm39) |
V14A |
probably damaging |
Het |
Cyp4a30b |
A |
G |
4: 115,316,216 (GRCm39) |
D314G |
probably damaging |
Het |
Fn1 |
T |
C |
1: 71,648,656 (GRCm39) |
N1418D |
probably benign |
Het |
Fshr |
A |
C |
17: 89,354,068 (GRCm39) |
L97V |
possibly damaging |
Het |
Gcm2 |
T |
C |
13: 41,258,888 (GRCm39) |
Q152R |
probably damaging |
Het |
Gcnt2 |
A |
G |
13: 41,041,660 (GRCm39) |
N273S |
probably benign |
Het |
Gm11437 |
A |
T |
11: 84,047,090 (GRCm39) |
|
probably benign |
Het |
Gm4559 |
A |
G |
7: 141,828,046 (GRCm39) |
S19P |
unknown |
Het |
Igsf8 |
T |
G |
1: 172,146,199 (GRCm39) |
I462R |
probably damaging |
Het |
Krt80 |
C |
T |
15: 101,250,135 (GRCm39) |
V37M |
probably damaging |
Het |
Lama4 |
T |
C |
10: 38,954,839 (GRCm39) |
Y1131H |
probably damaging |
Het |
Mrpl21 |
T |
C |
19: 3,342,529 (GRCm39) |
|
probably benign |
Het |
Mtcl1 |
T |
C |
17: 66,661,209 (GRCm39) |
N923S |
probably benign |
Het |
Nectin2 |
G |
A |
7: 19,472,231 (GRCm39) |
P53S |
possibly damaging |
Het |
Nup98 |
G |
A |
7: 101,832,752 (GRCm39) |
T335I |
probably damaging |
Het |
Or2y1e |
C |
A |
11: 49,218,568 (GRCm39) |
T110K |
probably damaging |
Het |
Or4a74 |
T |
C |
2: 89,439,912 (GRCm39) |
D178G |
probably damaging |
Het |
Or4e5 |
A |
G |
14: 52,728,380 (GRCm39) |
S14P |
probably benign |
Het |
Or51a42 |
T |
A |
7: 103,708,054 (GRCm39) |
I252F |
probably damaging |
Het |
Or6c69c |
T |
C |
10: 129,910,627 (GRCm39) |
M116T |
possibly damaging |
Het |
Pcdhb14 |
A |
G |
18: 37,582,085 (GRCm39) |
E397G |
probably benign |
Het |
Pcgf5 |
T |
G |
19: 36,412,076 (GRCm39) |
|
probably benign |
Het |
Pclo |
C |
T |
5: 14,764,457 (GRCm39) |
P1025L |
probably damaging |
Het |
Pdcd1lg2 |
C |
A |
19: 29,431,911 (GRCm39) |
F226L |
probably benign |
Het |
Pik3ca |
T |
A |
3: 32,494,035 (GRCm39) |
S332R |
probably benign |
Het |
Plek |
A |
T |
11: 16,931,887 (GRCm39) |
D321E |
probably benign |
Het |
Pm20d2 |
A |
G |
4: 33,179,241 (GRCm39) |
F333L |
probably damaging |
Het |
Polk |
T |
C |
13: 96,620,491 (GRCm39) |
T570A |
probably benign |
Het |
Rpgrip1l |
G |
A |
8: 92,027,437 (GRCm39) |
L201F |
probably damaging |
Het |
Serpinb2 |
T |
A |
1: 107,452,607 (GRCm39) |
L395H |
probably damaging |
Het |
Slc9c1 |
T |
G |
16: 45,368,003 (GRCm39) |
S197R |
probably damaging |
Het |
Smg1 |
T |
A |
7: 117,779,603 (GRCm39) |
E1264V |
possibly damaging |
Het |
Sned1 |
A |
G |
1: 93,202,390 (GRCm39) |
D678G |
probably benign |
Het |
Sorcs2 |
A |
G |
5: 36,188,556 (GRCm39) |
S851P |
probably benign |
Het |
Srcap |
A |
G |
7: 127,129,674 (GRCm39) |
|
probably benign |
Het |
Tbck |
T |
C |
3: 132,441,864 (GRCm39) |
Y557H |
probably damaging |
Het |
Tfap2d |
T |
C |
1: 19,189,110 (GRCm39) |
S219P |
probably damaging |
Het |
Trim9 |
T |
C |
12: 70,297,995 (GRCm39) |
D570G |
probably damaging |
Het |
Usp25 |
A |
G |
16: 76,878,541 (GRCm39) |
Y655C |
probably damaging |
Het |
Utrn |
T |
A |
10: 12,585,910 (GRCm39) |
T956S |
probably benign |
Het |
Vmn1r68 |
T |
A |
7: 10,261,799 (GRCm39) |
I100F |
probably benign |
Het |
Vps13a |
A |
T |
19: 16,631,734 (GRCm39) |
S2634T |
probably benign |
Het |
Zfp472 |
T |
A |
17: 33,196,390 (GRCm39) |
L155* |
probably null |
Het |
Zfp808 |
A |
G |
13: 62,317,381 (GRCm39) |
I43M |
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 |
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 |
2016-08-02 |