Mutagenetix > Incidental Mutation

Incidental Mutation 'R9593:Prr27'

723090

Institutional Source

Beutler Lab

Gene Symbol

Prr27

Ensembl Gene

ENSMUSG00000002240

Gene Name

proline rich 27

Synonyms

4930432K09Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9593 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87973556-87994245 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 87990994 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 202 (P202Q)

Ref Sequence

ENSEMBL: ENSMUSP00000098617 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002310] [ENSMUST00000101056]

AlphaFold

Q3SYJ2

Predicted Effect

probably benign
Transcript: ENSMUST00000002310
AA Change: P194Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000002310
Gene: ENSMUSG00000002240
AA Change: P194Q

Domain	Start	End	E-Value	Type
low complexity region	49	57	N/A	INTRINSIC
low complexity region	104	130	N/A	INTRINSIC
low complexity region	137	153	N/A	INTRINSIC
low complexity region	179	194	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000101056
AA Change: P202Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000098617
Gene: ENSMUSG00000002240
AA Change: P202Q

Domain	Start	End	E-Value	Type
low complexity region	57	65	N/A	INTRINSIC
low complexity region	112	138	N/A	INTRINSIC
low complexity region	145	161	N/A	INTRINSIC
low complexity region	187	202	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	T	A	1: 192,857,087 (GRCm39)	D146E	probably benign	Het
Acaca	C	T	11: 84,271,339 (GRCm39)	Q2058*	probably null	Het
Adam39	T	A	8: 41,279,744 (GRCm39)	C712S	possibly damaging	Het
Aipl1	T	C	11: 71,921,161 (GRCm39)	E219G	probably benign	Het
Ankrd24	A	G	10: 81,475,898 (GRCm39)	R301G	unknown	Het
Arhgef17	A	G	7: 100,532,009 (GRCm39)	F272L	probably damaging	Het
B3galt2	T	A	1: 143,522,604 (GRCm39)	Y247N	probably damaging	Het
Bltp1	T	C	3: 37,002,090 (GRCm39)	V1345A	probably damaging	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Cat	T	C	2: 103,285,433 (GRCm39)	E503G	probably benign	Het
Cemip2	T	C	19: 21,803,453 (GRCm39)	S829P	probably damaging	Het
Coro1b	T	A	19: 4,199,497 (GRCm39)	V52E	probably damaging	Het
D6Ertd527e	G	C	6: 87,088,839 (GRCm39)	S334T	unknown	Het
Dip2c	T	A	13: 9,704,683 (GRCm39)	M1344K	possibly damaging	Het
Dnah5	A	G	15: 28,236,774 (GRCm39)	I367V	probably benign	Het
Dock2	T	C	11: 34,178,607 (GRCm39)	T1807A	probably benign	Het
Dusp10	T	A	1: 183,806,643 (GRCm39)	F459I	probably damaging	Het
Elac1	A	T	18: 73,872,089 (GRCm39)	L302Q	probably benign	Het
Entrep3	T	A	3: 89,091,199 (GRCm39)	S57T	probably benign	Het
Fdx2	A	T	9: 20,979,097 (GRCm39)	Y165N	probably damaging	Het
Gabra2	C	T	5: 71,165,353 (GRCm39)	V206I	possibly damaging	Het
Gabrg1	T	C	5: 70,939,808 (GRCm39)	E108G	probably damaging	Het
Gm29394	A	G	15: 57,932,722 (GRCm39)	L5P	probably benign	Het
Gnb1l	C	T	16: 18,362,914 (GRCm39)	P101S	probably benign	Het
Hectd4	C	A	5: 121,424,844 (GRCm39)	S749*	probably null	Het
Hmcn2	A	G	2: 31,244,742 (GRCm39)	Y733C	probably damaging	Het
Inafm1	G	A	7: 16,007,059 (GRCm39)	L53F	probably damaging	Het
Iqgap3	G	A	3: 88,011,657 (GRCm39)	R814H	probably damaging	Het
Map3k19	A	G	1: 127,778,163 (GRCm39)	C21R	probably benign	Het
Maz	A	G	7: 126,624,924 (GRCm39)	F199L	probably damaging	Het
Mis18bp1	A	G	12: 65,187,628 (GRCm39)	I825T	probably damaging	Het
Mpp3	T	A	11: 101,907,506 (GRCm39)	T211S	possibly damaging	Het
Mtrf1	T	C	14: 79,656,664 (GRCm39)	Y389H	probably damaging	Het
Myo3b	G	A	2: 70,075,648 (GRCm39)	G579R	probably benign	Het
Nlrp4e	T	C	7: 23,020,197 (GRCm39)	V228A	probably benign	Het
Npepps	T	A	11: 97,149,179 (GRCm39)		probably null	Het
Ntng1	A	G	3: 109,842,224 (GRCm39)	L183P	probably damaging	Het
Or8c16	A	G	9: 38,130,868 (GRCm39)	T247A	probably benign	Het
Pcdha4	A	C	18: 37,086,740 (GRCm39)	I308L	probably benign	Het
Pear1	G	T	3: 87,658,480 (GRCm39)	Q964K	probably benign	Het
Plekhg2	A	T	7: 28,059,710 (GRCm39)	D1182E	possibly damaging	Het
Ptpn13	T	A	5: 103,674,998 (GRCm39)	D658E	possibly damaging	Het
Ptprq	T	C	10: 107,524,254 (GRCm39)	Y493C	possibly damaging	Het
Rnd1	A	G	15: 98,570,526 (GRCm39)	W107R	probably damaging	Het
Scn5a	G	A	9: 119,315,839 (GRCm39)	T1623M	probably damaging	Het
Sec23b	T	C	2: 144,410,564 (GRCm39)	I288T	probably benign	Het
Slfn14	T	A	11: 83,174,733 (GRCm39)	H86L	probably benign	Het
Smchd1	G	A	17: 71,701,828 (GRCm39)	H1055Y	probably damaging	Het
Sox13	G	A	1: 133,316,214 (GRCm39)	P243S	probably damaging	Het
St3gal6	C	A	16: 58,305,136 (GRCm39)	E109*	probably null	Het
Traf4	T	C	11: 78,056,253 (GRCm39)	D5G	possibly damaging	Het
Trank1	G	T	9: 111,191,365 (GRCm39)	C458F	probably benign	Het
Ttc41	T	C	10: 86,549,049 (GRCm39)	F81S	probably benign	Het
Tulp1	C	T	17: 28,572,802 (GRCm39)	W451*	probably null	Het
Tyms	T	C	5: 30,269,110 (GRCm39)	I171V		Het
Vmn2r115	T	A	17: 23,578,184 (GRCm39)	N552K	probably damaging	Het
Zfp710	T	A	7: 79,730,909 (GRCm39)	S29T	possibly damaging	Het

Other mutations in Prr27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02027:Prr27	APN	5	87,991,302 (GRCm39)	missense	possibly damaging	0.90
IGL02617:Prr27	APN	5	87,990,518 (GRCm39)	missense	probably benign	0.00
IGL02995:Prr27	APN	5	87,990,675 (GRCm39)	missense	probably benign
IGL03270:Prr27	APN	5	87,983,537 (GRCm39)	utr 5 prime	probably benign
R0531:Prr27	UTSW	5	87,990,537 (GRCm39)	missense	probably benign	0.02
R0637:Prr27	UTSW	5	87,999,005 (GRCm39)	unclassified	probably benign
R1498:Prr27	UTSW	5	87,998,600 (GRCm39)	unclassified	probably benign
R1599:Prr27	UTSW	5	87,991,084 (GRCm39)	missense	probably benign	0.00
R1744:Prr27	UTSW	5	87,990,906 (GRCm39)	missense	possibly damaging	0.46
R1980:Prr27	UTSW	5	87,991,261 (GRCm39)	missense	probably benign	0.03
R4033:Prr27	UTSW	5	87,991,164 (GRCm39)	nonsense	probably null
R4304:Prr27	UTSW	5	87,990,766 (GRCm39)	missense	probably benign	0.00
R4306:Prr27	UTSW	5	87,990,766 (GRCm39)	missense	probably benign	0.00
R4307:Prr27	UTSW	5	87,990,766 (GRCm39)	missense	probably benign	0.00
R4308:Prr27	UTSW	5	87,990,766 (GRCm39)	missense	probably benign	0.00
R4347:Prr27	UTSW	5	87,990,531 (GRCm39)	missense	possibly damaging	0.46
R4675:Prr27	UTSW	5	87,991,100 (GRCm39)	missense	possibly damaging	0.94
R4826:Prr27	UTSW	5	87,998,825 (GRCm39)	unclassified	probably benign
R4908:Prr27	UTSW	5	87,990,888 (GRCm39)	missense	probably benign	0.01
R5361:Prr27	UTSW	5	87,991,203 (GRCm39)	missense	probably damaging	0.96
R5426:Prr27	UTSW	5	87,998,744 (GRCm39)	unclassified	probably benign
R7268:Prr27	UTSW	5	87,991,135 (GRCm39)	missense	probably damaging	0.99
R7785:Prr27	UTSW	5	87,991,131 (GRCm39)	missense	probably benign
R8087:Prr27	UTSW	5	87,994,168 (GRCm39)	missense	probably benign	0.00
R8250:Prr27	UTSW	5	87,990,556 (GRCm39)	missense	possibly damaging	0.89
R8270:Prr27	UTSW	5	87,994,171 (GRCm39)	missense	possibly damaging	0.82
R8375:Prr27	UTSW	5	87,990,710 (GRCm39)	nonsense	probably null
R9070:Prr27	UTSW	5	87,990,994 (GRCm39)	missense	probably benign
R9071:Prr27	UTSW	5	87,990,994 (GRCm39)	missense	probably benign
R9101:Prr27	UTSW	5	87,991,330 (GRCm39)	missense	probably damaging	0.99
R9186:Prr27	UTSW	5	87,990,994 (GRCm39)	missense	probably benign
R9188:Prr27	UTSW	5	87,990,994 (GRCm39)	missense	probably benign
R9189:Prr27	UTSW	5	87,990,994 (GRCm39)	missense	probably benign
R9318:Prr27	UTSW	5	87,990,994 (GRCm39)	missense	probably benign
R9367:Prr27	UTSW	5	87,990,994 (GRCm39)	missense	probably benign
R9590:Prr27	UTSW	5	87,990,994 (GRCm39)	missense	probably benign
R9592:Prr27	UTSW	5	87,990,994 (GRCm39)	missense	probably benign
R9760:Prr27	UTSW	5	87,990,994 (GRCm39)	missense	probably benign
R9762:Prr27	UTSW	5	87,990,994 (GRCm39)	missense	probably benign
Z1088:Prr27	UTSW	5	87,990,505 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

Posted On

2022-08-09