Mutagenetix > Incidental Mutation

Incidental Mutation 'R9071:Prr27'

689531

Institutional Source

Beutler Lab

Gene Symbol

Prr27

Ensembl Gene

ENSMUSG00000002240

Gene Name

proline rich 27

Synonyms

4930432K09Rik

MMRRC Submission

068893-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9071 (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: 99.4%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	G	T	7: 41,274,783 (GRCm39)	R162L	probably benign	Het
Alpi	A	G	1: 87,026,584 (GRCm39)	V469A	probably damaging	Het
Amotl2	G	T	9: 102,595,892 (GRCm39)		probably benign	Het
Ano3	T	A	2: 110,625,418 (GRCm39)		probably null	Het
Atg16l1	G	T	1: 87,683,907 (GRCm39)		probably benign	Het
Atg2b	C	A	12: 105,625,099 (GRCm39)	E626*	probably null	Het
B3galt9	T	C	2: 34,728,435 (GRCm39)	V78A	probably benign	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Ccdc162	G	A	10: 41,457,174 (GRCm39)	Q1588*	probably null	Het
Cd3d	A	T	9: 44,896,340 (GRCm39)	H43L	probably benign	Het
Cenpk	C	T	13: 104,378,870 (GRCm39)	Q164*	probably null	Het
Clybl	C	A	14: 122,608,697 (GRCm39)	D96E	probably benign	Het
Cog1	T	C	11: 113,546,939 (GRCm39)	V511A	probably damaging	Het
Crhr1	T	A	11: 104,064,133 (GRCm39)	I282N	probably damaging	Het
Crybg2	A	G	4: 133,818,542 (GRCm39)	N1433D	probably damaging	Het
Cspp1	A	T	1: 10,159,121 (GRCm39)	I516F	possibly damaging	Het
Cul9	T	C	17: 46,837,379 (GRCm39)	T1030A	probably benign	Het
Cyp2d10	T	C	15: 82,288,361 (GRCm39)	T313A	probably damaging	Het
Ddx11	T	A	17: 66,450,736 (GRCm39)	N549K	probably damaging	Het
Ddx41	A	G	13: 55,680,219 (GRCm39)	V391A	probably damaging	Het
Eif3a	T	C	19: 60,751,634 (GRCm39)	D1227G	unknown	Het
Fam83f	T	C	15: 80,576,206 (GRCm39)	Y286H	probably damaging	Het
Fasn	T	C	11: 120,708,324 (GRCm39)	D647G	probably damaging	Het
Fat4	T	C	3: 39,037,598 (GRCm39)	V3750A	probably benign	Het
Golga2	T	C	2: 32,178,364 (GRCm39)	S14P	probably damaging	Het
Hgsnat	A	G	8: 26,436,302 (GRCm39)	V584A	possibly damaging	Het
Ifi207	A	T	1: 173,557,764 (GRCm39)	F325I	unknown	Het
Igfals	A	T	17: 25,099,670 (GRCm39)	I254F	probably damaging	Het
Matr3	T	C	18: 35,705,803 (GRCm39)	Y243H	possibly damaging	Het
Mki67	G	C	7: 135,301,205 (GRCm39)	D1276E	probably benign	Het
Moap1	T	A	12: 102,709,364 (GRCm39)	K62*	probably null	Het
Msto1	C	A	3: 88,812,414 (GRCm39)		probably benign	Het
Myt1	A	T	2: 181,448,420 (GRCm39)	D697V	possibly damaging	Het
Nampt	T	A	12: 32,892,781 (GRCm39)	V356E	probably damaging	Het
Nell2	T	A	15: 95,244,682 (GRCm39)	K472*	probably null	Het
Nfe2l3	A	C	6: 51,434,243 (GRCm39)	S268R	probably benign	Het
Or8b43	T	C	9: 38,361,032 (GRCm39)	I288T	possibly damaging	Het
Osbpl10	G	T	9: 114,890,908 (GRCm39)	V99L	probably benign	Het
Plod2	A	G	9: 92,485,048 (GRCm39)	I537M	probably benign	Het
Prdm4	A	G	10: 85,729,076 (GRCm39)	L770P	probably benign	Het
Scaper	T	C	9: 55,771,803 (GRCm39)	D371G	probably benign	Het
Sema3e	A	G	5: 14,282,154 (GRCm39)	K430R	probably benign	Het
Sez6l	A	T	5: 112,573,603 (GRCm39)		probably benign	Het
Slco1a5	A	T	6: 142,196,052 (GRCm39)	I317N	possibly damaging	Het
Spata4	T	G	8: 55,055,742 (GRCm39)	F211C	probably damaging	Het
Sspo	A	G	6: 48,433,982 (GRCm39)	E929G	probably benign	Het
Sult1e1	A	C	5: 87,735,681 (GRCm39)		probably benign	Het
Tas2r125	A	T	6: 132,887,400 (GRCm39)	N263Y	probably benign	Het
Ugt3a1	T	A	15: 9,370,224 (GRCm39)	L456*	probably null	Het
Wdr20rt	G	A	12: 65,274,222 (GRCm39)	V562I	probably benign	Het
Zc3h7b	T	C	15: 81,677,964 (GRCm39)	*983Q	probably null	Het
Zfp28	T	A	7: 6,397,544 (GRCm39)	C660S	probably 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
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
R9593: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

2021-11-19