Mutagenetix > Incidental Mutation

Incidental Mutation 'R9484:Papln'

716472

Institutional Source

Beutler Lab

Gene Symbol

Papln

Ensembl Gene

ENSMUSG00000021223

Gene Name

papilin, proteoglycan-like sulfated glycoprotein

Synonyms

E030033C16Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9484 (G1)

Quality Score

106.008

Status

Not validated

Chromosome

Chromosomal Location

83763634-83792382 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83791844 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 1249 (Q1249L)

Ref Sequence

ENSEMBL: ENSMUSP00000113806 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021646] [ENSMUST00000021647] [ENSMUST00000085215] [ENSMUST00000110298] [ENSMUST00000117217] [ENSMUST00000121733] [ENSMUST00000129335] [ENSMUST00000154043]

AlphaFold

Q9EPX2

Predicted Effect

probably benign
Transcript: ENSMUST00000021646
AA Change: Q1227L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000021646
Gene: ENSMUSG00000021223
AA Change: Q1227L

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 benign
Transcript: ENSMUST00000021647

SMART Domains

Protein: ENSMUSP00000021647
Gene: ENSMUSG00000021224

Domain	Start	End	E-Value	Type
PTB	34	175	2.19e-37	SMART
low complexity region	231	253	N/A	INTRINSIC
Pfam:NumbF	257	339	4.7e-42	PFAM
low complexity region	413	434	N/A	INTRINSIC
low complexity region	445	453	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000085215

SMART Domains

Protein: ENSMUSP00000082311
Gene: ENSMUSG00000021224

Domain	Start	End	E-Value	Type
PTB	34	175	2.19e-37	SMART
low complexity region	231	253	N/A	INTRINSIC
Pfam:NumbF	257	322	5.6e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110298

SMART Domains

Protein: ENSMUSP00000105927
Gene: ENSMUSG00000021224

Domain	Start	End	E-Value	Type
Pfam:PID	39	76	2.3e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117217

SMART Domains

Protein: ENSMUSP00000113591
Gene: ENSMUSG00000021224

Domain	Start	End	E-Value	Type
PTB	34	164	3.62e-38	SMART
low complexity region	220	242	N/A	INTRINSIC
Pfam:NumbF	246	328	4.5e-42	PFAM
low complexity region	402	423	N/A	INTRINSIC
low complexity region	434	442	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121733
AA Change: Q1249L

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000113806
Gene: ENSMUSG00000021223
AA Change: Q1249L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000129335

SMART Domains

Protein: ENSMUSP00000119303
Gene: ENSMUSG00000021224

Domain	Start	End	E-Value	Type
PTB	34	175	2.19e-37	SMART
low complexity region	231	253	N/A	INTRINSIC
Pfam:NumbF	258	338	9.9e-32	PFAM
low complexity region	462	483	N/A	INTRINSIC
low complexity region	494	502	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154043

SMART Domains

Protein: ENSMUSP00000117899
Gene: ENSMUSG00000021224

Domain	Start	End	E-Value	Type
PTB	34	164	3.62e-38	SMART
low complexity region	220	242	N/A	INTRINSIC
Pfam:NumbF	246	328	5.1e-42	PFAM
low complexity region	451	472	N/A	INTRINSIC
low complexity region	483	491	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.2%
20x: 97.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acads	A	T	5: 115,112,786	C151S	probably damaging	Het
Actr8	T	C	14: 29,986,344	I193T	probably benign	Het
Btbd2	T	C	10: 80,644,269	N419S	probably benign	Het
Cacna2d1	T	A	5: 16,356,833	W821R	probably damaging	Het
Cadps2	T	C	6: 23,626,647	Y214C	probably benign	Het
Calu	T	A	6: 29,366,163	L180Q	probably damaging	Het
Corin	C	T	5: 72,339,937	V615I	probably damaging	Het
Cyp8b1	A	T	9: 121,915,917	D116E	probably benign	Het
D630036H23Rik	C	A	12: 36,381,712	A96S	unknown	Het
Ddx24	A	T	12: 103,411,296	Y717N	probably damaging	Het
Dmap1	G	T	4: 117,676,111	Q249K	probably benign	Het
Dnah10	T	A	5: 124,823,444	W3922R	probably damaging	Het
Dnah14	T	C	1: 181,690,208	F2036L	probably benign	Het
Dnah14	T	C	1: 181,797,746	I4064T	probably benign	Het
Dock9	A	C	14: 121,581,432	V1546G	probably damaging	Het
Eif3a	A	T	19: 60,766,568	S1059T	unknown	Het
Ep300	A	G	15: 81,636,825	E1262G	unknown	Het
Evl	T	A	12: 108,686,457	I387N	probably damaging	Het
Fat2	A	C	11: 55,309,926	V774G	probably damaging	Het
Fez1	T	A	9: 36,843,797	Y31N	probably benign	Het
Fkbp10	A	G	11: 100,423,134	I435V	probably damaging	Het
Flnb	A	G	14: 7,929,004	D1911G	probably benign	Het
Fnbp1	T	C	2: 31,083,026	Y154C	probably benign	Het
Fndc10	T	C	4: 155,695,039	I180T	possibly damaging	Het
Frmd4a	G	A	2: 4,604,215	V965I	possibly damaging	Het
Gabrr2	A	G	4: 33,071,352	H64R	possibly damaging	Het
Glis3	T	C	19: 28,531,003	D527G	probably damaging	Het
Gm2022	A	T	12: 87,895,479	Q37L	possibly damaging	Het
H2-Ob	T	A	17: 34,241,015	F33L	probably damaging	Het
Hbb-bh1	C	T	7: 103,843,032	E27K	probably benign	Het
Ifnb1	T	A	4: 88,522,678	T33S	probably benign	Het
Igkv4-80	T	A	6: 69,016,782	T42S	probably damaging	Het
Irs2	C	T	8: 11,007,334	G366D	probably damaging	Het
Kcnk2	CAAA	CAA	1: 189,256,694		probably null	Het
Krtap5-3	T	A	7: 142,202,331	C302S	unknown	Het
Lgi1	A	G	19: 38,306,309	K510E	probably benign	Het
Lgi2	T	A	5: 52,538,594	D341V	probably benign	Het
Lin7c	T	C	2: 109,894,468	I14T	probably benign	Het
Lrrc19	A	T	4: 94,643,336	M13K	probably benign	Het
Lrrc69	T	C	4: 14,666,012	I315M	probably benign	Het
Myo5c	A	T	9: 75,297,488	D1541V	probably damaging	Het
Mypn	T	G	10: 63,167,240	M373L	probably benign	Het
Nckipsd	C	A	9: 108,812,638	H333N	probably damaging	Het
Nrg2	A	T	18: 36,024,348	L428Q	probably null	Het
Olfr1367	C	A	13: 21,347,417	T163K	probably damaging	Het
Olfr235	T	C	19: 12,268,371	I47T	possibly damaging	Het
Olfr53	T	C	7: 140,651,991	L4S	probably benign	Het
Otogl	T	A	10: 107,822,033		probably null	Het
Otogl	C	T	10: 107,901,295	G86D	probably damaging	Het
Plxna2	G	T	1: 194,644,894	G379C	probably damaging	Het
Pofut2	T	C	10: 77,259,426	I35T	probably benign	Het
Pros1	A	G	16: 62,924,524	T501A	possibly damaging	Het
Rapgef1	T	C	2: 29,735,809	S1042P	possibly damaging	Het
Rps6kb1	C	T	11: 86,517,617	E185K	probably damaging	Het
Slc13a2	A	T	11: 78,403,407	L216Q	probably damaging	Het
Slc22a14	T	C	9: 119,180,549	Y160C	probably damaging	Het
Slc22a4	T	A	11: 53,988,947	I429F	possibly damaging	Het
Slc26a3	A	G	12: 31,461,786	K457E	probably damaging	Het
Slc47a2	T	C	11: 61,336,234	I169M	possibly damaging	Het
Slco1a1	C	T	6: 141,908,946	V660I	probably benign	Het
Smyd1	A	G	6: 71,225,466	Y252H	probably damaging	Het
Soga3	G	A	10: 29,196,973	D754N	probably damaging	Het
Spp2	A	T	1: 88,406,973		probably benign	Het
Stra8	T	A	6: 34,934,186	W250R	probably damaging	Het
Syne1	A	C	10: 5,220,359	L5183R	probably damaging	Het
Tdrd9	T	C	12: 112,046,250	S1203P	probably damaging	Het
Th	C	A	7: 142,899,883	E27*	probably null	Het
Thada	C	A	17: 84,429,191	L887F	probably damaging	Het
Timm23	T	C	14: 32,180,629	T186A	probably benign	Het
Tmem132b	A	T	5: 125,783,356	E555V	probably damaging	Het
Tnik	A	T	3: 28,594,944	Q457L	unknown	Het
Uba7	C	A	9: 107,983,838	H942Q	probably benign	Het
Upf2	T	C	2: 5,961,267	S233P	unknown	Het
Urm1	T	A	2: 29,842,748	N72K	probably damaging	Het
Usp10	T	C	8: 119,948,765	S508P	possibly damaging	Het
Usp37	G	A	1: 74,459,922	P632S	probably damaging	Het
Wdr77	T	A	3: 105,965,088	N209K	probably benign	Het
Zbtb24	C	T	10: 41,451,433	T105M	probably benign	Het
Zfp341	T	A	2: 154,643,843	I671N	probably damaging	Het
Zfp414	A	G	17: 33,630,010	T73A	probably benign	Het
Zfp574	A	T	7: 25,081,979	I809F	possibly damaging	Het
Zfp62	T	C	11: 49,217,281	I733T	probably damaging	Het
Zfp719	A	G	7: 43,590,157	I390V	possibly 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
R7155:Papln	UTSW	12	83776521	missense	probably damaging	1.00
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
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'- TTGCAGTTCCAGACAGTAGGG -3'
(R):5'- TGCAAGCCATGTCTTACCATC -3'

Sequencing Primer
(F):5'- GCAGGAAGTTAAATGTGGAGCC -3'
(R):5'- TTCTCCCCAGCAAACTATCCAG -3'

Posted On

2022-07-18