Incidental Mutation 'R8383:Kirrel3'
| ID |
647032 |
| 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 |
067749-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.203)
|
| Stock # |
R8383 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
34397190-34948012 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 34941179 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 601
(M601I)
|
| 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 |
probably null
Transcript: ENSMUST00000045091
AA Change: M557I
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000048863
Gene: ENSMUSG00000032036
AA Change: M557I
| 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 null
Transcript: ENSMUST00000115148
AA Change: M590I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110801
Gene: ENSMUSG00000032036
AA Change: M590I
| 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 null
Transcript: ENSMUST00000187182
AA Change: M601I
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140219
Gene: ENSMUSG00000032036
AA Change: M601I
| 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 null
Transcript: ENSMUST00000187625
AA Change: M557I
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139951
Gene: ENSMUSG00000032036
AA Change: M557I
| 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
AA Change: M217I
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000140086
Gene: ENSMUSG00000032036
AA Change: M217I
| 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 null
Transcript: ENSMUST00000188933
AA Change: M569I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139418
Gene: ENSMUSG00000032036
AA Change: M569I
| 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: M557I
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000139714
Gene: ENSMUSG00000032036
AA Change: M557I
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad12 |
A |
T |
5: 121,745,436 (GRCm39) |
M285K |
probably damaging |
Het |
| Adcyap1r1 |
T |
C |
6: 55,456,985 (GRCm39) |
S239P |
probably damaging |
Het |
| Alpk1 |
A |
T |
3: 127,518,085 (GRCm39) |
M72K |
probably benign |
Het |
| Alpk2 |
G |
T |
18: 65,438,469 (GRCm39) |
R975S |
probably benign |
Het |
| Ankrd7 |
A |
T |
6: 18,868,410 (GRCm39) |
K177N |
possibly damaging |
Het |
| Asxl1 |
A |
G |
2: 153,235,639 (GRCm39) |
T272A |
probably damaging |
Het |
| Ccdc175 |
A |
G |
12: 72,155,952 (GRCm39) |
Y666H |
possibly damaging |
Het |
| Cyp2j11 |
T |
C |
4: 96,236,695 (GRCm39) |
N37S |
probably benign |
Het |
| Dglucy |
A |
G |
12: 100,801,588 (GRCm39) |
D81G |
probably benign |
Het |
| Dysf |
T |
A |
6: 83,996,565 (GRCm39) |
D22E |
probably damaging |
Het |
| Glg1 |
T |
C |
8: 111,896,194 (GRCm39) |
T177A |
possibly damaging |
Het |
| Gm3415 |
C |
T |
5: 146,495,228 (GRCm39) |
P210L |
probably benign |
Het |
| Gm7995 |
A |
G |
14: 42,133,321 (GRCm39) |
H66R |
|
Het |
| Habp2 |
G |
A |
19: 56,304,768 (GRCm39) |
V388M |
probably damaging |
Het |
| Hey2 |
A |
G |
10: 30,716,665 (GRCm39) |
S33P |
probably benign |
Het |
| Hmbs |
C |
T |
9: 44,249,240 (GRCm39) |
R195H |
probably damaging |
Het |
| Hrnr |
A |
T |
3: 93,239,653 (GRCm39) |
Y3297F |
unknown |
Het |
| Hspg2 |
T |
A |
4: 137,271,681 (GRCm39) |
H2482Q |
possibly damaging |
Het |
| Ifi207 |
GAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG |
GGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG |
1: 173,556,770 (GRCm39) |
|
probably benign |
Het |
| Ifi208 |
T |
A |
1: 173,511,075 (GRCm39) |
V410E |
possibly damaging |
Het |
| Igkv3-7 |
A |
G |
6: 70,584,734 (GRCm39) |
T25A |
probably damaging |
Het |
| Il22ra1 |
A |
G |
4: 135,461,451 (GRCm39) |
Q72R |
probably damaging |
Het |
| Ip6k1 |
T |
A |
9: 107,921,926 (GRCm39) |
F207I |
possibly damaging |
Het |
| Kdm6b |
A |
G |
11: 69,296,876 (GRCm39) |
S464P |
probably benign |
Het |
| Klk1b1 |
C |
T |
7: 43,619,767 (GRCm39) |
R109C |
possibly damaging |
Het |
| Kmt2e |
A |
G |
5: 23,690,539 (GRCm39) |
N518S |
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,777,049 (GRCm39) |
S370G |
probably benign |
Het |
| Nrn1l |
T |
C |
8: 106,621,058 (GRCm39) |
L50P |
probably damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,522,343 (GRCm39) |
Y411C |
probably damaging |
Het |
| Obsl1 |
G |
T |
1: 75,480,501 (GRCm39) |
F374L |
possibly damaging |
Het |
| Or1j15 |
A |
T |
2: 36,459,014 (GRCm39) |
I135F |
probably benign |
Het |
| Or1j20 |
A |
G |
2: 36,760,343 (GRCm39) |
Y255C |
probably damaging |
Het |
| Or5t5 |
A |
G |
2: 86,616,874 (GRCm39) |
I267V |
probably benign |
Het |
| Panx3 |
T |
A |
9: 37,578,049 (GRCm39) |
|
probably null |
Het |
| Piezo2 |
A |
T |
18: 63,217,759 (GRCm39) |
F1139L |
probably damaging |
Het |
| Pld2 |
G |
A |
11: 70,442,255 (GRCm39) |
D380N |
possibly damaging |
Het |
| Plekha7 |
A |
C |
7: 115,744,154 (GRCm39) |
N715K |
probably damaging |
Het |
| Pom121l12 |
T |
A |
11: 14,549,353 (GRCm39) |
S20T |
probably benign |
Het |
| Rasal1 |
C |
T |
5: 120,804,420 (GRCm39) |
R431C |
probably benign |
Het |
| Rdh8 |
G |
A |
9: 20,734,081 (GRCm39) |
|
probably null |
Het |
| Rgl3 |
G |
A |
9: 21,888,529 (GRCm39) |
T427I |
probably damaging |
Het |
| Rnf17 |
TG |
T |
14: 56,661,999 (GRCm39) |
132 |
probably null |
Het |
| Sclt1 |
A |
C |
3: 41,696,450 (GRCm39) |
I5S |
probably benign |
Het |
| Seh1l |
A |
G |
18: 67,908,126 (GRCm39) |
H16R |
possibly damaging |
Het |
| Sgca |
G |
A |
11: 94,863,068 (GRCm39) |
P95L |
probably benign |
Het |
| Spag17 |
T |
G |
3: 99,992,708 (GRCm39) |
S1735A |
probably damaging |
Het |
| Tdrd3 |
T |
C |
14: 87,743,744 (GRCm39) |
I564T |
probably benign |
Het |
| Tob1 |
ACAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGC |
11: 94,105,203 (GRCm39) |
|
probably benign |
Het |
| Trpv3 |
T |
G |
11: 73,180,127 (GRCm39) |
F524V |
probably benign |
Het |
| Ttc41 |
A |
G |
10: 86,555,390 (GRCm39) |
N282S |
probably benign |
Het |
| Txnrd2 |
T |
C |
16: 18,291,614 (GRCm39) |
L421P |
possibly damaging |
Het |
| Tyr |
A |
T |
7: 87,133,200 (GRCm39) |
C289S |
probably damaging |
Het |
| Ubn1 |
A |
G |
16: 4,895,222 (GRCm39) |
E756G |
possibly damaging |
Het |
| Vps13a |
A |
T |
19: 16,701,069 (GRCm39) |
M700K |
possibly damaging |
Het |
| Zfhx2 |
A |
G |
14: 55,311,528 (GRCm39) |
S389P |
possibly damaging |
Het |
| Zfp667 |
T |
C |
7: 6,308,370 (GRCm39) |
L346P |
probably damaging |
Het |
| Zfp945 |
A |
G |
17: 23,070,798 (GRCm39) |
M388T |
probably benign |
Het |
| Zfp992 |
A |
G |
4: 146,551,133 (GRCm39) |
I285V |
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 |
|
|
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 |
|
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 |
|
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'- AGTTGACATGCCTTGCCTAAG -3'
(R):5'- TTACTCAGTGGTCAGGATCCAG -3'
Sequencing Primer
(F):5'- CATGCCTTGCCTAAGAATGAG -3'
(R):5'- GGATCCAGGTCAAGAACTGCATC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation