Incidental Mutation 'R0786:Kirrel3'
| ID |
76865 |
| 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 |
038966-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.183)
|
| Stock # |
R0786 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
34397190-34948012 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34946161 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 640
(N640S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140219
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045091]
[ENSMUST00000115148]
[ENSMUST00000187182]
[ENSMUST00000187625]
[ENSMUST00000188658]
[ENSMUST00000188933]
[ENSMUST00000190549]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045091
AA Change: N596S
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000048863
Gene: ENSMUSG00000032036
AA Change: N596S
| 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: N629S
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000110801
Gene: ENSMUSG00000032036
AA Change: N629S
| 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: N640S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000140219
Gene: ENSMUSG00000032036
AA Change: N640S
| 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: N596S
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139951
Gene: ENSMUSG00000032036
AA Change: N596S
| 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 |
possibly damaging
Transcript: ENSMUST00000188933
AA Change: N608S
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139418
Gene: ENSMUSG00000032036
AA Change: N608S
| 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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.6%
- 20x: 92.6%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrb3 |
T |
C |
8: 27,716,880 (GRCm39) |
|
probably benign |
Het |
| Atg2b |
T |
C |
12: 105,602,767 (GRCm39) |
H1592R |
probably benign |
Het |
| Bpifb1 |
C |
T |
2: 154,044,581 (GRCm39) |
A16V |
probably benign |
Het |
| Cep57 |
T |
A |
9: 13,721,166 (GRCm39) |
Y271F |
probably damaging |
Het |
| Cfap54 |
A |
T |
10: 92,803,397 (GRCm39) |
N1548K |
possibly damaging |
Het |
| Chrna6 |
A |
T |
8: 27,898,408 (GRCm39) |
D103E |
probably benign |
Het |
| Clec12b |
T |
C |
6: 129,357,651 (GRCm39) |
N69S |
probably benign |
Het |
| Col27a1 |
T |
C |
4: 63,209,815 (GRCm39) |
|
probably null |
Het |
| Cwh43 |
T |
A |
5: 73,565,526 (GRCm39) |
Y30* |
probably null |
Het |
| Dnai7 |
A |
G |
6: 145,127,483 (GRCm39) |
|
probably null |
Het |
| Dsg4 |
T |
C |
18: 20,582,429 (GRCm39) |
|
probably null |
Het |
| Efna3 |
T |
C |
3: 89,223,880 (GRCm39) |
N103S |
probably damaging |
Het |
| Efr3a |
A |
G |
15: 65,725,400 (GRCm39) |
D532G |
possibly damaging |
Het |
| Fam227a |
A |
T |
15: 79,510,469 (GRCm39) |
V395D |
probably benign |
Het |
| Fes |
T |
A |
7: 80,036,668 (GRCm39) |
D93V |
probably damaging |
Het |
| Gbp3 |
T |
A |
3: 142,276,732 (GRCm39) |
M510K |
possibly damaging |
Het |
| Gpr12 |
A |
T |
5: 146,520,314 (GRCm39) |
S44T |
probably damaging |
Het |
| Gpr179 |
T |
C |
11: 97,234,100 (GRCm39) |
N583S |
probably damaging |
Het |
| Hipk1 |
T |
C |
3: 103,651,620 (GRCm39) |
T1093A |
probably benign |
Het |
| Hspb1 |
T |
C |
5: 135,918,097 (GRCm39) |
L148P |
probably damaging |
Het |
| Mak |
G |
T |
13: 41,199,545 (GRCm39) |
Q365K |
probably benign |
Het |
| Melk |
A |
G |
4: 44,303,649 (GRCm39) |
Y14C |
unknown |
Het |
| Myh7 |
T |
C |
14: 55,230,330 (GRCm39) |
M1V |
probably null |
Het |
| Nsmf |
A |
G |
2: 24,950,522 (GRCm39) |
Y330C |
probably damaging |
Het |
| Parp14 |
A |
G |
16: 35,661,172 (GRCm39) |
F1592S |
possibly damaging |
Het |
| Pnpla6 |
A |
T |
8: 3,573,317 (GRCm39) |
I394F |
probably benign |
Het |
| Ppl |
T |
C |
16: 4,906,918 (GRCm39) |
R1126G |
probably damaging |
Het |
| Prss8 |
C |
T |
7: 127,525,646 (GRCm39) |
R291Q |
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rasgrp1 |
G |
T |
2: 117,130,980 (GRCm39) |
D155E |
probably benign |
Het |
| Recql5 |
T |
C |
11: 115,786,628 (GRCm39) |
I563V |
probably benign |
Het |
| Rhbg |
C |
T |
3: 88,151,875 (GRCm39) |
M394I |
probably benign |
Het |
| Rnf130 |
A |
G |
11: 49,978,264 (GRCm39) |
D275G |
probably damaging |
Het |
| Smg9 |
T |
C |
7: 24,120,289 (GRCm39) |
F421S |
probably benign |
Het |
| Tgm2 |
T |
C |
2: 157,966,301 (GRCm39) |
E451G |
probably damaging |
Het |
| Tle1 |
T |
A |
4: 72,117,598 (GRCm39) |
T21S |
probably damaging |
Het |
| Tmc5 |
T |
C |
7: 118,226,433 (GRCm39) |
I266T |
possibly damaging |
Het |
| Tmigd3 |
T |
A |
3: 105,824,318 (GRCm39) |
C96S |
probably damaging |
Het |
| Trdn |
A |
T |
10: 33,181,077 (GRCm39) |
T361S |
probably benign |
Het |
| Vgll3 |
A |
T |
16: 65,657,568 (GRCm39) |
Q261L |
probably benign |
Het |
| Vmn2r104 |
A |
T |
17: 20,262,987 (GRCm39) |
I158K |
probably benign |
Het |
| Zfp964 |
A |
G |
8: 70,116,731 (GRCm39) |
K444E |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCTCCTGACAAATGAGCACCTG -3'
(R):5'- TCAATGGAAGAGCTGCCCATGC -3'
Sequencing Primer
(F):5'- AATGAGCACCTGCTAGGGTC -3'
(R):5'- TGCCCAGCACAAACCTCTG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation