Mutagenetix > Incidental Mutation

Incidental Mutation 'R6033:Prr3'

486416

Institutional Source

Beutler Lab

Gene Symbol

Prr3

Ensembl Gene

ENSMUSG00000038500

Gene Name

proline-rich polypeptide 3

Synonyms

CAT56, 4930540G07Rik

MMRRC Submission

044205-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R6033 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36283433-36291128 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 36289516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134373 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055454] [ENSMUST00000087200] [ENSMUST00000165613] [ENSMUST00000172429] [ENSMUST00000172900] [ENSMUST00000173585] [ENSMUST00000173724] [ENSMUST00000174849] [ENSMUST00000173872]

AlphaFold

Q811B5

Predicted Effect

probably benign
Transcript: ENSMUST00000055454

SMART Domains

Protein: ENSMUSP00000052166
Gene: ENSMUSG00000038500

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
low complexity region	24	48	N/A	INTRINSIC
low complexity region	73	95	N/A	INTRINSIC
low complexity region	110	120	N/A	INTRINSIC
ZnF_C3H1	158	184	3.04e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000087200

SMART Domains

Protein: ENSMUSP00000084450
Gene: ENSMUSG00000024429

Domain	Start	End	E-Value	Type
low complexity region	4	14	N/A	INTRINSIC
low complexity region	31	46	N/A	INTRINSIC
low complexity region	90	102	N/A	INTRINSIC
SCOP:d1egaa1	179	232	6e-3	SMART
Pfam:MMR_HSR1	362	465	1.4e-13	PFAM
low complexity region	550	583	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165613

SMART Domains

Protein: ENSMUSP00000125802
Gene: ENSMUSG00000038500

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
low complexity region	24	36	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172429

SMART Domains

Protein: ENSMUSP00000129651
Gene: ENSMUSG00000038500

Domain	Start	End	E-Value	Type
low complexity region	26	48	N/A	INTRINSIC
low complexity region	63	73	N/A	INTRINSIC
ZnF_C3H1	111	137	3.04e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172900

SMART Domains

Protein: ENSMUSP00000134115
Gene: ENSMUSG00000038500

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
low complexity region	24	36	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173417

Predicted Effect

probably null
Transcript: ENSMUST00000173585

SMART Domains

Protein: ENSMUSP00000134373
Gene: ENSMUSG00000038500

Domain	Start	End	E-Value	Type
low complexity region	26	48	N/A	INTRINSIC
low complexity region	63	73	N/A	INTRINSIC
ZnF_C3H1	111	137	3.04e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174275

Predicted Effect

probably benign
Transcript: ENSMUST00000173724

Predicted Effect

probably benign
Transcript: ENSMUST00000174849

SMART Domains

Protein: ENSMUSP00000134505
Gene: ENSMUSG00000038500

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
low complexity region	24	36	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173872

SMART Domains

Protein: ENSMUSP00000134021
Gene: ENSMUSG00000038500

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
low complexity region	24	48	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	T	A	8: 84,645,551 (GRCm39)	V58E	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Alas1	A	G	9: 106,118,403 (GRCm39)	S240P	probably damaging	Het
Alox12e	C	T	11: 70,206,839 (GRCm39)	G616D	probably benign	Het
Ash1l	T	C	3: 88,892,326 (GRCm39)	Y1402H	probably damaging	Het
Ccdc150	G	T	1: 54,324,787 (GRCm39)		probably null	Het
Chct1	A	G	11: 85,069,198 (GRCm39)	E72G	probably damaging	Het
Cmtm8	T	C	9: 114,625,141 (GRCm39)	T97A	probably damaging	Het
Cnmd	T	C	14: 79,898,945 (GRCm39)	S36G	probably benign	Het
Dnah3	A	C	7: 119,670,870 (GRCm39)	N609K	probably benign	Het
Dph1	C	T	11: 75,082,023 (GRCm39)		probably benign	Het
Drosha	G	A	15: 12,926,085 (GRCm39)	A1225T	probably benign	Het
Eid3	T	A	10: 82,703,487 (GRCm39)	I316K	probably damaging	Het
Erich6	A	G	3: 58,530,622 (GRCm39)	L449S	probably benign	Het
Fhod1	T	C	8: 106,063,066 (GRCm39)		probably benign	Het
Glra1	A	G	11: 55,418,245 (GRCm39)	Y250H	probably damaging	Het
Gm21972	T	C	1: 86,064,817 (GRCm39)	Y950H	probably damaging	Het
Gm6712	T	A	17: 17,514,678 (GRCm39)		noncoding transcript	Het
Grb7	C	T	11: 98,346,023 (GRCm39)		probably null	Het
Hivep1	A	G	13: 42,310,583 (GRCm39)	E941G	probably benign	Het
Homer2	A	C	7: 81,268,427 (GRCm39)	S78A	possibly damaging	Het
Ica1	T	A	6: 8,630,799 (GRCm39)		probably null	Het
Ifna12	T	C	4: 88,521,154 (GRCm39)	E131G	possibly damaging	Het
Igbp1b	T	C	6: 138,635,207 (GRCm39)	Y79C	probably damaging	Het
Incenp	C	T	19: 9,850,061 (GRCm39)	V871I	probably damaging	Het
Jaml	G	A	9: 45,000,008 (GRCm39)	G60D	probably damaging	Het
Kcp	C	T	6: 29,493,193 (GRCm39)	C110Y	probably damaging	Het
Manba	T	C	3: 135,255,022 (GRCm39)	V460A	probably benign	Het
Myrfl	A	T	10: 116,685,006 (GRCm39)	C125S	probably benign	Het
Ncan	T	C	8: 70,565,240 (GRCm39)	D229G	probably damaging	Het
Ncoa4-ps	A	G	12: 119,225,475 (GRCm39)		noncoding transcript	Het
Nlrp10	A	T	7: 108,523,784 (GRCm39)	D565E	probably benign	Het
Npas2	T	C	1: 39,377,261 (GRCm39)	V541A	probably damaging	Het
Nsg2	G	A	11: 32,005,058 (GRCm39)	V87M	possibly damaging	Het
Or5al6	A	T	2: 85,976,613 (GRCm39)	V155E	probably damaging	Het
Prkd2	C	T	7: 16,599,639 (GRCm39)	R701C	probably damaging	Het
Prr5	A	G	15: 84,626,126 (GRCm39)	E67G	probably damaging	Het
Prss36	T	C	7: 127,533,739 (GRCm39)	R22G	probably benign	Het
Slc45a4	G	A	15: 73,453,825 (GRCm39)	A716V	probably damaging	Het
Slc46a1	T	C	11: 78,356,833 (GRCm39)		probably null	Het
Slc6a5	T	C	7: 49,609,099 (GRCm39)	I768T	probably benign	Het
Slco6c1	C	T	1: 97,009,041 (GRCm39)		probably null	Het
Taar2	A	T	10: 23,816,874 (GRCm39)	H138L	probably benign	Het
Taf2	A	C	15: 54,922,297 (GRCm39)	L330R	probably damaging	Het
Tgm5	T	C	2: 120,901,210 (GRCm39)		probably null	Het
Tmed4	A	T	11: 6,224,491 (GRCm39)	Y56*	probably null	Het
Tmem156	A	T	5: 65,232,964 (GRCm39)	F135L	probably benign	Het
Ttll6	T	C	11: 96,025,713 (GRCm39)	S65P	probably damaging	Het
Ttn	C	T	2: 76,557,171 (GRCm39)	G28199R	probably damaging	Het
Ubn2	T	A	6: 38,447,159 (GRCm39)		probably null	Het
Unc80	A	T	1: 66,512,419 (GRCm39)	T110S	possibly damaging	Het
Vmn2r72	A	T	7: 85,387,137 (GRCm39)	V809E	probably damaging	Het
Zbtb2	A	G	10: 4,318,599 (GRCm39)	F476L	probably damaging	Het
Zbtb24	T	C	10: 41,340,397 (GRCm39)	F498L	probably damaging	Het
Zfp280d	T	A	9: 72,236,419 (GRCm39)	L494Q	probably damaging	Het
Zfp281	T	C	1: 136,554,464 (GRCm39)	S481P	probably benign	Het

Other mutations in Prr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1641:Prr3	UTSW	17	36,285,484 (GRCm39)	nonsense	probably null
R8052:Prr3	UTSW	17	36,290,053 (GRCm39)	missense	possibly damaging	0.70
R9204:Prr3	UTSW	17	36,285,619 (GRCm39)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- TGGTCCTAAGAGCAGACGTG -3'
(R):5'- CAGCGATGTTACAGATTGTGATG -3'

Sequencing Primer
(F):5'- GACGTGAGAAAACAGCCATC -3'
(R):5'- GGGAAGACAATTTGTGACCACACTTC -3'

Posted On

2017-08-16