Incidental Mutation 'R0033:Kirrel3'
| ID |
64554 |
| 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 |
038327-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.183)
|
| Stock # |
R0033 (G1)
|
| Quality Score |
106 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
34397190-34948012 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34912259 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 208
(I208V)
|
| 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 benign
Transcript: ENSMUST00000045091
AA Change: I201V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000048863
Gene: ENSMUSG00000032036
AA Change: I201V
| 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: I234V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000110801
Gene: ENSMUSG00000032036
AA Change: I234V
| 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: I208V
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000140219
Gene: ENSMUSG00000032036
AA Change: I208V
| 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: I201V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000139951
Gene: ENSMUSG00000032036
AA Change: I201V
| 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: ENSMUST00000188933
AA Change: I201V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000139418
Gene: ENSMUSG00000032036
AA Change: I201V
| 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: I201V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000139714
Gene: ENSMUSG00000032036
AA Change: I201V
| 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 |
0.0822 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 93.3%
|
| Validation Efficiency |
100% (81/81) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
T |
C |
1: 120,115,794 (GRCm39) |
F110L |
probably damaging |
Het |
| Agr3 |
C |
T |
12: 35,978,329 (GRCm39) |
T14M |
possibly damaging |
Het |
| Ankib1 |
A |
C |
5: 3,819,588 (GRCm39) |
D110E |
possibly damaging |
Het |
| Auts2 |
G |
C |
5: 131,468,931 (GRCm39) |
D571E |
probably damaging |
Het |
| Cacna1d |
T |
A |
14: 29,827,446 (GRCm39) |
Q993L |
probably damaging |
Het |
| Cdkn3 |
C |
A |
14: 47,006,329 (GRCm39) |
Y141* |
probably null |
Het |
| Ceacam12 |
T |
G |
7: 17,803,385 (GRCm39) |
|
probably benign |
Het |
| Celf1 |
T |
C |
2: 90,831,798 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,729,967 (GRCm39) |
S1780P |
probably damaging |
Het |
| Csf3r |
A |
G |
4: 125,925,677 (GRCm39) |
T151A |
probably benign |
Het |
| Ctss |
G |
A |
3: 95,452,888 (GRCm39) |
|
probably benign |
Het |
| Emilin2 |
G |
T |
17: 71,582,009 (GRCm39) |
T239K |
probably benign |
Het |
| Erp44 |
T |
C |
4: 48,241,289 (GRCm39) |
|
probably benign |
Het |
| Fbxl4 |
T |
C |
4: 22,377,017 (GRCm39) |
V151A |
probably damaging |
Het |
| Fer1l4 |
G |
A |
2: 155,866,026 (GRCm39) |
|
probably benign |
Het |
| Gm43302 |
T |
C |
5: 105,424,710 (GRCm39) |
D310G |
probably benign |
Het |
| Gstk1 |
A |
G |
6: 42,223,737 (GRCm39) |
|
probably benign |
Het |
| Hapln1 |
A |
T |
13: 89,749,932 (GRCm39) |
Q159L |
probably benign |
Het |
| Hibch |
A |
G |
1: 52,944,610 (GRCm39) |
K296R |
probably null |
Het |
| Katnip |
T |
G |
7: 125,360,999 (GRCm39) |
V103G |
possibly damaging |
Het |
| Kcnh4 |
C |
T |
11: 100,637,758 (GRCm39) |
G633E |
probably benign |
Het |
| Kdm7a |
A |
T |
6: 39,142,131 (GRCm39) |
Y382* |
probably null |
Het |
| Klc4 |
A |
T |
17: 46,946,359 (GRCm39) |
C489S |
probably damaging |
Het |
| Lrrc8a |
G |
T |
2: 30,145,357 (GRCm39) |
C57F |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,583,504 (GRCm39) |
N435D |
possibly damaging |
Het |
| Macc1 |
T |
A |
12: 119,410,076 (GRCm39) |
N281K |
probably benign |
Het |
| Myo16 |
A |
T |
8: 10,420,955 (GRCm39) |
Y265F |
probably damaging |
Het |
| Myoc |
G |
A |
1: 162,476,010 (GRCm39) |
G238E |
probably damaging |
Het |
| Nlrp12 |
A |
C |
7: 3,289,037 (GRCm39) |
S492A |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,885,572 (GRCm39) |
|
probably benign |
Het |
| Oplah |
T |
A |
15: 76,181,334 (GRCm39) |
Q1202L |
probably benign |
Het |
| Or5p62 |
G |
T |
7: 107,771,134 (GRCm39) |
D272E |
probably benign |
Het |
| Or9s23 |
A |
G |
1: 92,500,982 (GRCm39) |
T30A |
probably benign |
Het |
| Ppargc1b |
G |
A |
18: 61,440,765 (GRCm39) |
R718W |
probably damaging |
Het |
| Pramel19 |
A |
T |
4: 101,798,881 (GRCm39) |
Y284F |
probably benign |
Het |
| Pwwp2b |
A |
T |
7: 138,834,844 (GRCm39) |
D95V |
possibly damaging |
Het |
| Rnf225 |
T |
C |
7: 12,662,085 (GRCm39) |
L88P |
probably damaging |
Het |
| Slc12a1 |
A |
G |
2: 125,055,929 (GRCm39) |
D820G |
probably benign |
Het |
| Slc12a4 |
G |
T |
8: 106,674,111 (GRCm39) |
|
probably benign |
Het |
| Slx4 |
C |
T |
16: 3,805,864 (GRCm39) |
A72T |
probably benign |
Het |
| Snrnp200 |
T |
C |
2: 127,079,983 (GRCm39) |
I1920T |
probably damaging |
Het |
| Stap2 |
C |
T |
17: 56,306,976 (GRCm39) |
V234M |
probably damaging |
Het |
| Sv2b |
A |
G |
7: 74,767,489 (GRCm39) |
F636L |
probably benign |
Het |
| Tdp1 |
C |
T |
12: 99,901,311 (GRCm39) |
T531I |
probably benign |
Het |
| Thra |
G |
A |
11: 98,655,178 (GRCm39) |
V353I |
probably benign |
Het |
| Tm7sf2 |
A |
G |
19: 6,116,452 (GRCm39) |
|
probably benign |
Het |
| Tmx4 |
A |
T |
2: 134,442,918 (GRCm39) |
|
probably null |
Het |
| Tnfrsf12a |
A |
G |
17: 23,895,119 (GRCm39) |
|
probably null |
Het |
| Trav6n-5 |
T |
A |
14: 53,342,368 (GRCm39) |
M14K |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,572,624 (GRCm39) |
I26090F |
probably damaging |
Het |
| Tut1 |
G |
T |
19: 8,940,123 (GRCm39) |
R369L |
probably benign |
Het |
| Uba5 |
T |
A |
9: 103,931,347 (GRCm39) |
T241S |
probably benign |
Het |
| Unc13d |
T |
C |
11: 115,959,991 (GRCm39) |
T597A |
probably benign |
Het |
| Vmn1r58 |
A |
T |
7: 5,413,387 (GRCm39) |
I281K |
probably damaging |
Het |
| Vmn1r59 |
A |
G |
7: 5,457,433 (GRCm39) |
V109A |
probably benign |
Het |
| Xdh |
T |
A |
17: 74,214,627 (GRCm39) |
M773L |
probably benign |
Het |
| Zfp64 |
A |
T |
2: 168,767,635 (GRCm39) |
I659N |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAATTCCTGAGAGTCACCAGCAC -3'
(R):5'- TGGCCTTTAGCCTAGCAGAGAAAAC -3'
Sequencing Primer
(F):5'- ACTGTCCAGTTCTACATGGAGAC -3'
(R):5'- cgaggaggacatccaacaac -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation