Mutagenetix > Incidental Mutation

Incidental Mutation 'R1433:D130043K22Rik'

159333

Institutional Source

Beutler Lab

Gene Symbol

D130043K22Rik

Ensembl Gene

ENSMUSG00000006711

Gene Name

RIKEN cDNA D130043K22 gene

Synonyms

MMRRC Submission

039488-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1433 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24845135-24901270 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 24871341 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 496 (P496Q)

Ref Sequence

ENSEMBL: ENSMUSP00000006893 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006893] [ENSMUST00000141572]

AlphaFold

Q5SZV5

Predicted Effect

probably damaging
Transcript: ENSMUST00000006893
AA Change: P496Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000006893
Gene: ENSMUSG00000006711
AA Change: P496Q

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Blast:MANEC	23	102	3e-44	BLAST
low complexity region	236	270	N/A	INTRINSIC
FN3	332	427	3.43e1	SMART
PKD	345	436	3.96e0	SMART
FN3	435	521	3.08e1	SMART
PKD	444	533	7.12e-10	SMART
PKD	539	629	1.46e-6	SMART
PKD	630	723	6.75e-11	SMART
FN3	634	711	5.1e1	SMART
FN3	728	808	9.15e1	SMART
PKD	729	820	4.38e-10	SMART
transmembrane domain	965	987	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000141572
AA Change: P496Q

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116004
Gene: ENSMUSG00000006711
AA Change: P496Q

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Blast:MANEC	23	102	2e-44	BLAST
low complexity region	236	270	N/A	INTRINSIC
FN3	332	427	3.43e1	SMART
PKD	345	436	3.96e0	SMART
FN3	435	521	3.08e1	SMART
PKD	444	533	7.12e-10	SMART
PKD	539	629	1.46e-6	SMART
PKD	630	723	6.75e-11	SMART
FN3	634	711	5.1e1	SMART

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.8%
20x: 87.9%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a transmembrane protein that contains a large extracellular domain with multiple polycystic kidney disease (PKD) domains. The encoded protein may play a role in the development of the cerebral cortex by regulating neuronal migration and cell adhesion. Single nucleotide polymorphisms in a similar gene in human are associated with dyslexia. Alternatively spliced transcript variants have been identifed. [provided by RefSeq, May 2015]
PHENOTYPE: Homozygous knockout results in a mild behavioral phenotype: increased prepulse inhibition in males under certain conditions and decreased anxiety-related response. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8430408G22Rik	A	T	6: 116,652,262	S189C	possibly damaging	Het
Acp1	C	T	12: 30,895,935	E140K	possibly damaging	Het
Acsm4	T	A	7: 119,693,819	D57E	probably damaging	Het
Adamts9	A	G	6: 92,849,290		probably null	Het
Aen	T	A	7: 78,907,312	Y303N	probably damaging	Het
Alcam	T	C	16: 52,295,752		probably null	Het
Apol7b	A	G	15: 77,425,546	L17P	probably damaging	Het
Cacna1c	A	T	6: 118,652,793	Y1058*	probably null	Het
Camk2d	T	C	3: 126,808,224	V354A	probably benign	Het
Carf	T	G	1: 60,124,858	M43R	probably damaging	Het
Casp8	T	A	1: 58,824,124	F81Y	probably damaging	Het
Cd74	G	A	18: 60,803,992	R20H	probably benign	Het
Cers5	A	T	15: 99,745,931	Y16*	probably null	Het
Chuk	A	T	19: 44,078,958	M586K	probably null	Het
Dab2	A	G	15: 6,429,938	R311G	probably damaging	Het
Diaph1	A	T	18: 37,905,134	I48N	unknown	Het
Dnajc13	T	C	9: 104,180,121	D1560G	probably damaging	Het
Dsg2	T	C	18: 20,582,723	S241P	probably damaging	Het
Efcab5	T	C	11: 77,105,378	D1119G	probably benign	Het
Efr3a	G	T	15: 65,869,057		probably benign	Het
Evc2	A	G	5: 37,393,083	K814E	probably damaging	Het
Gm5724	A	G	6: 141,765,703	M94T	probably benign	Het
Hic2	A	G	16: 17,258,822	D505G	probably benign	Het
Ing1	T	A	8: 11,557,010	V34D	probably damaging	Het
Inpp5k	A	G	11: 75,637,491	M172V	probably benign	Het
Itgae	T	C	11: 73,115,592	V362A	probably damaging	Het
Lama2	T	A	10: 27,187,754	R1346S	probably damaging	Het
Lrrc7	T	C	3: 158,177,306	N450S	probably damaging	Het
Lrrn3	T	A	12: 41,452,584	Y578F	possibly damaging	Het
Maml2	A	T	9: 13,706,501	N381I	probably damaging	Het
Mettl15	T	G	2: 109,092,921	E385D	probably benign	Het
Mthfr	T	A	4: 148,055,443	I623N	possibly damaging	Het
Muc4	A	C	16: 32,753,020	N966T	probably benign	Het
Myoc	A	G	1: 162,648,996	Y423C	probably damaging	Het
Ncoa2	A	T	1: 13,148,378	M1409K	probably benign	Het
Ncor2	T	C	5: 125,109,975		probably benign	Het
Numb	T	C	12: 83,797,259	E395G	probably damaging	Het
Oas1g	A	G	5: 120,881,949	F198S	probably damaging	Het
Olfr1367	T	C	13: 21,347,024	V32A	probably benign	Het
Olfr181	A	G	16: 58,925,686	V295A	probably benign	Het
Prdm13	T	A	4: 21,678,909	Y527F	probably damaging	Het
Prr14l	A	G	5: 32,828,833	L1106P	probably damaging	Het
Ptbp1	T	A	10: 79,863,273	I555N	probably damaging	Het
Ptchd4	A	T	17: 42,503,715	T836S	possibly damaging	Het
Rlbp1	T	C	7: 79,383,938	D3G	probably benign	Het
Sdk2	T	C	11: 113,795,045	E1883G	probably damaging	Het
Serpinc1	A	T	1: 160,993,404	K140N	probably damaging	Het
Serpind1	A	T	16: 17,342,385	Y382F	probably damaging	Het
Slc28a3	T	C	13: 58,563,106	E534G	probably damaging	Het
Ttyh2	T	A	11: 114,710,179	I418N	probably benign	Het
Tubgcp4	C	T	2: 121,175,424	Q98*	probably null	Het
Ugt2a2	A	G	5: 87,464,106	L315P	probably damaging	Het
Vwa1	A	T	4: 155,772,901	S147T	probably damaging	Het
Xylt1	T	C	7: 117,591,952	V325A	possibly damaging	Het
Zfp335	T	C	2: 164,899,456	H685R	probably damaging	Het

Other mutations in D130043K22Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:D130043K22Rik	APN	13	24867174	missense	probably damaging	1.00
IGL01114:D130043K22Rik	APN	13	24857156	missense	probably damaging	0.99
IGL01412:D130043K22Rik	APN	13	24887860	missense	probably damaging	1.00
IGL01542:D130043K22Rik	APN	13	24876037	splice site	probably null
IGL01615:D130043K22Rik	APN	13	24899796	missense	probably damaging	1.00
IGL01705:D130043K22Rik	APN	13	24857941	missense	probably benign	0.00
IGL02220:D130043K22Rik	APN	13	24883755	missense	possibly damaging	0.95
IGL02229:D130043K22Rik	APN	13	24875924	missense	probably damaging	1.00
IGL02576:D130043K22Rik	APN	13	24856870	missense	possibly damaging	0.74
IGL03038:D130043K22Rik	APN	13	24879619	missense	probably damaging	1.00
IGL03117:D130043K22Rik	APN	13	24889842	missense	probably damaging	1.00
IGL03014:D130043K22Rik	UTSW	13	24858092	missense	possibly damaging	0.88
R0019:D130043K22Rik	UTSW	13	24880812	missense	probably damaging	1.00
R0019:D130043K22Rik	UTSW	13	24880812	missense	probably damaging	1.00
R0020:D130043K22Rik	UTSW	13	24854492	utr 5 prime	probably benign
R0172:D130043K22Rik	UTSW	13	24872406	missense	probably benign	0.16
R0276:D130043K22Rik	UTSW	13	24858045	missense	possibly damaging	0.92
R0304:D130043K22Rik	UTSW	13	24864815	missense	probably benign	0.07
R0335:D130043K22Rik	UTSW	13	24887877	missense	probably damaging	0.98
R0744:D130043K22Rik	UTSW	13	24863580	splice site	probably benign
R0833:D130043K22Rik	UTSW	13	24863580	splice site	probably benign
R0836:D130043K22Rik	UTSW	13	24863580	splice site	probably benign
R1270:D130043K22Rik	UTSW	13	24857338	missense	probably benign	0.00
R1682:D130043K22Rik	UTSW	13	24882556	missense	probably damaging	1.00
R1772:D130043K22Rik	UTSW	13	24875999	missense	probably damaging	1.00
R1773:D130043K22Rik	UTSW	13	24882602	missense	possibly damaging	0.80
R1800:D130043K22Rik	UTSW	13	24883894	missense	probably damaging	1.00
R1956:D130043K22Rik	UTSW	13	24885595	missense	probably damaging	1.00
R2255:D130043K22Rik	UTSW	13	24856911	missense	probably damaging	1.00
R2445:D130043K22Rik	UTSW	13	24857036	missense	probably benign	0.04
R2568:D130043K22Rik	UTSW	13	24883891	missense	probably damaging	0.97
R4160:D130043K22Rik	UTSW	13	24862696	missense	probably benign	0.02
R4494:D130043K22Rik	UTSW	13	24871356	missense	probably benign	0.16
R4732:D130043K22Rik	UTSW	13	24899665	missense	probably damaging	1.00
R4733:D130043K22Rik	UTSW	13	24899665	missense	probably damaging	1.00
R4782:D130043K22Rik	UTSW	13	24878040	missense	probably damaging	1.00
R4799:D130043K22Rik	UTSW	13	24878040	missense	probably damaging	1.00
R4864:D130043K22Rik	UTSW	13	24863612	missense	probably damaging	1.00
R5155:D130043K22Rik	UTSW	13	24872290	missense	probably damaging	1.00
R5240:D130043K22Rik	UTSW	13	24877977	missense	probably damaging	1.00
R5383:D130043K22Rik	UTSW	13	24857414	missense	probably benign	0.02
R5493:D130043K22Rik	UTSW	13	24863603	missense	probably damaging	1.00
R6184:D130043K22Rik	UTSW	13	24885591	missense	probably damaging	1.00
R6305:D130043K22Rik	UTSW	13	24885685	missense	probably damaging	1.00
R6436:D130043K22Rik	UTSW	13	24877935	missense	probably damaging	1.00
R6980:D130043K22Rik	UTSW	13	24864781	missense	probably damaging	0.98
R7038:D130043K22Rik	UTSW	13	24893408	missense	probably damaging	1.00
R7085:D130043K22Rik	UTSW	13	24872302	missense	possibly damaging	0.95
R7147:D130043K22Rik	UTSW	13	24882563	missense	probably benign	0.31
R7384:D130043K22Rik	UTSW	13	24882605	missense	probably damaging	1.00
R7398:D130043K22Rik	UTSW	13	24893377	missense	probably damaging	0.97
R7584:D130043K22Rik	UTSW	13	24872370	missense	probably damaging	1.00
R7585:D130043K22Rik	UTSW	13	24885585	missense	probably benign	0.01
R7588:D130043K22Rik	UTSW	13	24887893	missense	probably damaging	0.99
R7610:D130043K22Rik	UTSW	13	24876002	missense	probably benign	0.30
R7903:D130043K22Rik	UTSW	13	24876012	missense	probably damaging	0.98
R7966:D130043K22Rik	UTSW	13	24893423	missense	probably damaging	1.00
R8014:D130043K22Rik	UTSW	13	24856702	missense	probably damaging	1.00
R8374:D130043K22Rik	UTSW	13	24857979	missense	probably benign	0.07
R8543:D130043K22Rik	UTSW	13	24889869	missense	probably benign	0.08
R8775:D130043K22Rik	UTSW	13	24856999	nonsense	probably null
R8775-TAIL:D130043K22Rik	UTSW	13	24856999	nonsense	probably null
R8806:D130043K22Rik	UTSW	13	24899635	missense	probably benign	0.11
R8916:D130043K22Rik	UTSW	13	24872271	missense	probably benign
R9209:D130043K22Rik	UTSW	13	24857107	missense	possibly damaging	0.96
R9524:D130043K22Rik	UTSW	13	24887893	missense	possibly damaging	0.89
Z1177:D130043K22Rik	UTSW	13	24856709	missense	probably damaging	1.00
Z1177:D130043K22Rik	UTSW	13	24856834	missense	probably benign	0.39
Z1177:D130043K22Rik	UTSW	13	24872248	missense	possibly damaging	0.79
Z1177:D130043K22Rik	UTSW	13	24880847	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGCCCAATGTATATGGTTGAGATCCG -3'
(R):5'- GGGTGTTACCAAGCACTACTCTCAAAC -3'

Sequencing Primer
(F):5'- ATATGGTTGAGATCCGTGTGAATG -3'
(R):5'- tgggaggcagaggcaag -3'

Posted On

2014-03-14