Mutagenetix > Incidental Mutation

Incidental Mutation 'R7155:Papln'

557248

Institutional Source

Beutler Lab

Gene Symbol

Papln

Ensembl Gene

ENSMUSG00000021223

Gene Name

papilin, proteoglycan-like sulfated glycoprotein

Synonyms

E030033C16Rik

MMRRC Submission

045226-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7155 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83763634-83792382 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83776521 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 444 (L444Q)

Ref Sequence

ENSEMBL: ENSMUSP00000113806 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021646] [ENSMUST00000121733]

AlphaFold

Q9EPX2

Predicted Effect

probably damaging
Transcript: ENSMUST00000021646
AA Change: L422Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000021646
Gene: ENSMUSG00000021223
AA Change: L422Q

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
TSP1	30	81	3.36e-11	SMART
low complexity region	147	161	N/A	INTRINSIC
Pfam:ADAM_spacer1	184	299	3.3e-39	PFAM
TSP1	309	362	1.2e-7	SMART
TSP1	366	426	2.76e-7	SMART
TSP1	427	482	1.42e-9	SMART
TSP1	488	540	2.47e-9	SMART
low complexity region	604	621	N/A	INTRINSIC
KU	748	801	1.83e-22	SMART
low complexity region	822	831	N/A	INTRINSIC
IGc2	917	980	2.88e-4	SMART
IGc2	1056	1119	2.66e-17	SMART
IGc2	1145	1209	2.13e-7	SMART
Pfam:PLAC	1234	1268	2.3e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000121733
AA Change: L444Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113806
Gene: ENSMUSG00000021223
AA Change: L444Q

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
TSP1	30	81	3.36e-11	SMART
low complexity region	147	161	N/A	INTRINSIC
Pfam:ADAM_spacer1	184	299	2.8e-38	PFAM
TSP1	309	362	1.2e-7	SMART
TSP1	388	448	1.82e-7	SMART
TSP1	449	504	1.42e-9	SMART
TSP1	510	562	2.47e-9	SMART
low complexity region	626	643	N/A	INTRINSIC
KU	770	823	1.83e-22	SMART
Pfam:Papilin_u7	831	922	1.9e-40	PFAM
IGc2	939	1002	2.88e-4	SMART
IGc2	1078	1141	2.66e-17	SMART
IGc2	1167	1231	2.13e-7	SMART
Pfam:PLAC	1257	1289	1.1e-13	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	G	2: 151,473,569	L63P	possibly damaging	Het
Abca13	A	T	11: 9,529,010	Y4286F	probably benign	Het
Aldh5a1	A	C	13: 24,911,589	V515G	possibly damaging	Het
Ankrd42	T	C	7: 92,591,933	E406G	possibly damaging	Het
Arfgef2	T	A	2: 166,865,813	M1043K	probably benign	Het
Arhgef11	T	A	3: 87,709,572	Y383*	probably null	Het
Aste1	C	T	9: 105,405,136	P614L	probably damaging	Het
B3galt5	T	A	16: 96,315,805	S213T	probably damaging	Het
Bak1	A	G	17: 27,022,460	L108P	possibly damaging	Het
Bcl6	G	A	16: 23,966,226	R675*	probably null	Het
Bdp1	T	G	13: 100,061,151	T909P	possibly damaging	Het
Cacna1i	A	G	15: 80,395,238	H2060R	probably benign	Het
Cdhr3	G	T	12: 33,061,773	P246Q	probably damaging	Het
Colgalt1	T	C	8: 71,623,710	S602P	probably damaging	Het
Csde1	T	C	3: 103,039,953	S74P	probably damaging	Het
Cyp51	A	T	5: 4,087,846	C366S	possibly damaging	Het
Dcaf7	A	G	11: 106,037,190	N23D	probably damaging	Het
Ddx10	G	A	9: 53,117,288	A772V	probably benign	Het
Ddx4	A	G	13: 112,613,785	F404S	probably benign	Het
Dirc2	G	T	16: 35,735,577	T171K	probably benign	Het
Dlg4	T	A	11: 70,017,216	M1K	probably null	Het
Dnajc6	T	C	4: 101,612,945	V293A	probably damaging	Het
Etl4	G	T	2: 20,806,931	R1643L	probably damaging	Het
F13b	G	A	1: 139,508,157	E234K	probably damaging	Het
Fam171a1	T	C	2: 3,225,729	I633T	probably benign	Het
Frem3	A	G	8: 80,616,039	I1654V	probably benign	Het
Galr2	A	G	11: 116,283,582	E346G	possibly damaging	Het
Gck	G	A	11: 5,949,705		probably benign	Het
Gen1	G	T	12: 11,241,832	T717K	probably benign	Het
Gm13083	A	T	4: 143,616,165	I281F	probably benign	Het
Gpatch8	TTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	11: 102,480,188		probably benign	Het
Hat1	A	G	2: 71,421,251	T215A	possibly damaging	Het
Hmbox1	A	T	14: 64,897,037	M38K	probably damaging	Het
Ifi47	A	G	11: 49,096,542	K379E	probably benign	Het
Ift81	T	C	5: 122,568,999	Y460C	probably damaging	Het
Jarid2	T	A	13: 44,902,462	S381R	probably damaging	Het
Kmt2b	A	T	7: 30,579,963	V1458E	probably damaging	Het
Kpna4	G	T	3: 69,089,933	P336Q	probably damaging	Het
Krt84	T	C	15: 101,532,254	R168G	probably damaging	Het
Lhx8	T	A	3: 154,324,584	Y137F	possibly damaging	Het
Lin7b	T	C	7: 45,370,227	E19G	probably damaging	Het
Lrmda	A	T	14: 22,584,540	R131S	probably damaging	Het
Lrrc75b	C	T	10: 75,553,678	A280T	possibly damaging	Het
Megf11	G	A	9: 64,647,951	R268K	probably null	Het
Mgat4e	G	T	1: 134,541,959	Q116K	probably damaging	Het
Mlkl	A	G	8: 111,319,403	L325P	probably damaging	Het
Mup2	A	G	4: 60,137,641	L134P	probably damaging	Het
Myo19	A	G	11: 84,900,586	E489G	probably damaging	Het
Ncbp3	C	A	11: 73,048,009	P37Q	probably damaging	Het
Nf2	A	G	11: 4,799,964	V236A	probably damaging	Het
Nlrp1a	A	T	11: 71,124,079	M115K	possibly damaging	Het
Nsf	T	A	11: 103,828,530	K649*	probably null	Het
Olfml2b	A	T	1: 170,666,785	I313L	probably benign	Het
Olfr316	T	A	11: 58,758,283	I206N	probably damaging	Het
Olfr654	T	A	7: 104,588,557	V251D	possibly damaging	Het
Phc3	T	C	3: 30,914,197	I897V	probably benign	Het
Plcg1	T	C	2: 160,754,380	L632P	probably damaging	Het
Prkg1	T	C	19: 31,302,301	T178A	probably damaging	Het
Ptges	T	A	2: 30,892,804	T79S	probably benign	Het
Rab26	T	C	17: 24,532,289	T81A	probably damaging	Het
Rai14	T	A	15: 10,595,003	I145L	possibly damaging	Het
Rasgrf1	A	G	9: 90,002,361	T960A	possibly damaging	Het
Rfx1	A	T	8: 84,094,826	I755F	probably damaging	Het
Rims1	T	G	1: 22,432,923	L670F	probably damaging	Het
Rtkn	G	A	6: 83,149,711	C297Y	probably damaging	Het
Sec23a	A	T	12: 58,989,443	N378K	probably benign	Het
Slc17a2	A	G	13: 23,822,407	E472G	probably benign	Het
Slc1a2	T	C	2: 102,766,995	M449T	probably damaging	Het
Slc22a3	G	A	17: 12,433,631	L369F	possibly damaging	Het
Smad6	G	T	9: 64,021,787	D82E	unknown	Het
Smgc	A	T	15: 91,852,608	I463F	possibly damaging	Het
Strada	C	A	11: 106,171,039	G166C	probably damaging	Het
Tcaf3	A	G	6: 42,593,891	V309A	probably benign	Het
Tet2	C	T	3: 133,469,591	E1332K	possibly damaging	Het
Tfcp2l1	A	G	1: 118,668,632	N366D	probably damaging	Het
Tll2	G	A	19: 41,117,284	P369L	possibly damaging	Het
Tox4	T	C	14: 52,292,097	V505A	probably benign	Het
Trbv4	A	G	6: 41,059,853	D104G	probably damaging	Het
Ugdh	T	C	5: 65,417,037	E416G	probably damaging	Het
Usp47	T	A	7: 112,087,013	C613S	probably damaging	Het
Vmn1r11	T	A	6: 57,138,162	N270K	probably benign	Het
Wsb2	T	A	5: 117,371,095	L147Q	probably damaging	Het
Xrn1	G	A	9: 95,979,145	A453T	possibly damaging	Het
Zan	A	G	5: 137,461,844	S1262P	unknown	Het
Zswim4	A	G	8: 84,219,927	L700P	probably damaging	Het

Other mutations in Papln

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00824:Papln	APN	12	83770436	missense	possibly damaging	0.81
IGL01788:Papln	APN	12	83775462	missense	probably benign	0.32
IGL01889:Papln	APN	12	83786835	missense	probably benign	0.25
IGL02499:Papln	APN	12	83780671	missense	probably benign	0.00
IGL02567:Papln	APN	12	83778837	missense	probably benign	0.00
IGL03150:Papln	APN	12	83782984	missense	probably damaging	1.00
IGL03331:Papln	APN	12	83783661	missense	probably benign
F5770:Papln	UTSW	12	83778834	missense	possibly damaging	0.72
R0201:Papln	UTSW	12	83783027	splice site	probably benign
R0389:Papln	UTSW	12	83783379	nonsense	probably null
R0763:Papln	UTSW	12	83791865	missense	possibly damaging	0.54
R1508:Papln	UTSW	12	83782916	missense	probably damaging	0.99
R1628:Papln	UTSW	12	83784406	splice site	probably benign
R1920:Papln	UTSW	12	83789254	nonsense	probably null
R1974:Papln	UTSW	12	83782037	missense	probably damaging	0.98
R2004:Papln	UTSW	12	83773218	missense	probably damaging	1.00
R2105:Papln	UTSW	12	83780236	missense	probably benign	0.04
R2876:Papln	UTSW	12	83778927	missense	probably damaging	0.96
R4199:Papln	UTSW	12	83783392	missense	probably null	0.01
R4702:Papln	UTSW	12	83781983	missense	probably benign	0.01
R4705:Papln	UTSW	12	83777208	splice site	probably null
R4835:Papln	UTSW	12	83774420	missense	probably damaging	0.99
R4874:Papln	UTSW	12	83777143	missense	probably benign	0.01
R4938:Papln	UTSW	12	83782903	missense	probably benign	0.35
R5000:Papln	UTSW	12	83774889	missense	probably damaging	1.00
R5149:Papln	UTSW	12	83771882	splice site	probably null
R5324:Papln	UTSW	12	83774571	missense	probably damaging	1.00
R5784:Papln	UTSW	12	83781980	missense	probably benign
R5881:Papln	UTSW	12	83771878	missense	probably null	0.91
R5977:Papln	UTSW	12	83784369	nonsense	probably null
R6035:Papln	UTSW	12	83774680	missense	probably damaging	1.00
R6035:Papln	UTSW	12	83774680	missense	probably damaging	1.00
R6291:Papln	UTSW	12	83783015	missense	probably benign	0.01
R6461:Papln	UTSW	12	83781813	splice site	probably null
R6536:Papln	UTSW	12	83781887	missense	probably damaging	1.00
R6861:Papln	UTSW	12	83774949	missense	probably damaging	1.00
R6898:Papln	UTSW	12	83777460	missense	probably benign	0.03
R6953:Papln	UTSW	12	83781885	nonsense	probably null
R7450:Papln	UTSW	12	83780171	missense	probably benign	0.13
R7510:Papln	UTSW	12	83772173	missense	probably damaging	0.99
R7850:Papln	UTSW	12	83780662	missense	probably damaging	1.00
R7977:Papln	UTSW	12	83775382	missense	probably damaging	1.00
R7987:Papln	UTSW	12	83775382	missense	probably damaging	1.00
R8321:Papln	UTSW	12	83774941	nonsense	probably null
R8324:Papln	UTSW	12	83786619	missense	probably damaging	1.00
R8466:Papln	UTSW	12	83778481	critical splice acceptor site	probably null
R8743:Papln	UTSW	12	83782990	missense	probably damaging	1.00
R8790:Papln	UTSW	12	83777144	missense	probably benign	0.01
R9086:Papln	UTSW	12	83774859	missense	probably damaging	1.00
R9291:Papln	UTSW	12	83778510	missense	probably benign	0.01
R9350:Papln	UTSW	12	83786864	missense	probably damaging	1.00
R9438:Papln	UTSW	12	83771832	missense	probably benign
R9484:Papln	UTSW	12	83791844	missense	probably benign	0.05
V7580:Papln	UTSW	12	83778834	missense	possibly damaging	0.72
V7581:Papln	UTSW	12	83778834	missense	possibly damaging	0.72
V7582:Papln	UTSW	12	83778834	missense	possibly damaging	0.72
Z1088:Papln	UTSW	12	83776376	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- GGCTAGTCTTAACTGTCCCC -3'
(R):5'- CCTGGTCCAGAGTCTAGAGTTG -3'

Sequencing Primer
(F):5'- AGTCTTAACTGTCCCCCACCTTC -3'
(R):5'- CCAGAGTCTAGAGTTGTGTCTCATC -3'

Posted On

2019-06-26