Mutagenetix > Incidental Mutation

Incidental Mutation 'R2272:Prrc1'

242606

Institutional Source

Beutler Lab

Gene Symbol

Prrc1

Ensembl Gene

ENSMUSG00000024594

Gene Name

proline-rich coiled-coil 1

Synonyms

3110038B19Rik, 2310058D16Rik, 9430085A19Rik, 1190002C06Rik

MMRRC Submission

040272-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R2272 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57487813-57526028 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 57514718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 312 (D312Y)

Ref Sequence

ENSEMBL: ENSMUSP00000025490 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025490]

AlphaFold

Q3UPH1

Predicted Effect

probably damaging
Transcript: ENSMUST00000025490
AA Change: D312Y

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025490
Gene: ENSMUSG00000024594
AA Change: D312Y

Domain	Start	End	E-Value	Type
low complexity region	57	71	N/A	INTRINSIC
low complexity region	79	96	N/A	INTRINSIC
low complexity region	109	134	N/A	INTRINSIC
Pfam:NTPase_I-T	261	380	4.3e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130696

Meta Mutation Damage Score

0.4968

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	A	T	1: 165,337,866 (GRCm39)	E160V	probably damaging	Het
Ago1	C	A	4: 126,347,443 (GRCm39)	M435I	probably benign	Het
Apol7b	G	A	15: 77,307,910 (GRCm39)	A195V	probably damaging	Het
Arid3c	T	A	4: 41,724,744 (GRCm39)	I364F	probably damaging	Het
Atg2b	C	T	12: 105,604,267 (GRCm39)	V1545I	probably benign	Het
Atp4a	C	A	7: 30,414,925 (GRCm39)	S238*	probably null	Het
Birc6	T	C	17: 74,909,966 (GRCm39)	V1453A	probably benign	Het
Bmal2	T	C	6: 146,723,612 (GRCm39)	F314S	probably damaging	Het
Brinp3	A	G	1: 146,777,142 (GRCm39)	R530G	possibly damaging	Het
Carnmt1	T	C	19: 18,680,734 (GRCm39)	L336P	probably damaging	Het
Cdh22	A	T	2: 164,985,767 (GRCm39)		probably null	Het
Cdk5rap2	A	C	4: 70,184,915 (GRCm39)	S1178R	probably benign	Het
Cdkl3	T	C	11: 51,923,322 (GRCm39)	V45A	probably benign	Het
Cracr2a	T	A	6: 127,584,261 (GRCm39)	F107I	probably damaging	Het
Cyfip1	G	T	7: 55,549,705 (GRCm39)	R624L	probably null	Het
Ddc	T	C	11: 11,785,764 (GRCm39)	N308D	probably damaging	Het
Dnah10	A	G	5: 124,808,530 (GRCm39)	N195S	probably benign	Het
Dnah9	T	C	11: 66,003,188 (GRCm39)	D872G	probably benign	Het
Fmo1	A	T	1: 162,661,424 (GRCm39)	D286E	probably damaging	Het
Fmo4	A	T	1: 162,626,616 (GRCm39)	I310N	possibly damaging	Het
Garin5b	T	A	7: 4,761,186 (GRCm39)	T509S	probably benign	Het
Hydin	A	T	8: 111,035,764 (GRCm39)	I152L	probably benign	Het
Itpr1	T	A	6: 108,470,716 (GRCm39)	C2214S	probably damaging	Het
Kcnq3	T	A	15: 65,900,529 (GRCm39)	D242V	probably damaging	Het
Klhl1	T	C	14: 96,755,344 (GRCm39)	D137G	probably benign	Het
Lama5	T	C	2: 179,820,396 (GRCm39)	D3282G	possibly damaging	Het
Lhx8	A	G	3: 154,022,399 (GRCm39)	L254S	probably damaging	Het
Lipa	T	A	19: 34,488,290 (GRCm39)	R119*	probably null	Het
Matn4	A	T	2: 164,239,162 (GRCm39)	C232S	possibly damaging	Het
Mios	C	T	6: 8,226,865 (GRCm39)	R614C	possibly damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Muc6	T	A	7: 141,217,423 (GRCm39)	T2417S	possibly damaging	Het
Mycbp2	T	C	14: 103,381,774 (GRCm39)	H3612R	probably null	Het
Myo5b	G	T	18: 74,866,996 (GRCm39)	L1382F	probably damaging	Het
Myo7b	C	T	18: 32,110,096 (GRCm39)	S1122N	probably benign	Het
Myo9a	T	A	9: 59,722,584 (GRCm39)	F549I	probably damaging	Het
Ncbp2	T	C	16: 31,775,769 (GRCm39)	Y138H	probably damaging	Het
Neil1	A	G	9: 57,054,069 (GRCm39)	S84P	probably damaging	Het
Nfix	A	G	8: 85,453,804 (GRCm39)	I256T	probably damaging	Het
Nlrp4f	A	T	13: 65,342,222 (GRCm39)	D474E	probably benign	Het
Or5ac21	T	G	16: 59,123,807 (GRCm39)	M98R	possibly damaging	Het
Or8b12i	T	A	9: 20,082,705 (GRCm39)	H54L	possibly damaging	Het
Pcnx1	T	C	12: 82,042,088 (GRCm39)	V2240A	probably benign	Het
Per3	T	A	4: 151,103,342 (GRCm39)	Y530F	probably damaging	Het
Pes1	C	A	11: 3,919,524 (GRCm39)	L66I	probably damaging	Het
Pramel22	G	A	4: 143,380,712 (GRCm39)	T437I	probably damaging	Het
Prkdc	A	G	16: 15,472,681 (GRCm39)		probably null	Het
Prpf8	T	A	11: 75,386,189 (GRCm39)	V946E	probably damaging	Het
Prss54	C	T	8: 96,297,735 (GRCm39)	W45*	probably null	Het
Psg29	A	T	7: 16,944,621 (GRCm39)	N377I	probably benign	Het
Rab3gap2	T	A	1: 185,015,739 (GRCm39)		probably null	Het
Serpinb9c	C	T	13: 33,338,524 (GRCm39)	G125E	probably damaging	Het
Skint4	A	G	4: 111,977,065 (GRCm39)	T152A	probably benign	Het
Slc26a2	A	G	18: 61,331,650 (GRCm39)	C594R	possibly damaging	Het
Slc47a2	A	T	11: 61,219,352 (GRCm39)		probably null	Het
Ttc39d	A	G	17: 80,524,675 (GRCm39)	K445E	probably damaging	Het
Ttn	T	A	2: 76,594,864 (GRCm39)	E20394V	probably damaging	Het
Ugt2b36	A	G	5: 87,214,114 (GRCm39)	V510A	possibly damaging	Het
Usf1	T	C	1: 171,245,628 (GRCm39)	L291P	possibly damaging	Het
Usp7	T	C	16: 8,516,333 (GRCm39)	S649G	probably benign	Het
Vmn1r172	A	C	7: 23,359,616 (GRCm39)	D167A	probably damaging	Het
Wnt10b	T	A	15: 98,672,228 (GRCm39)	Q163L	probably damaging	Het

Other mutations in Prrc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02527:Prrc1	APN	18	57,522,419 (GRCm39)	missense	probably benign	0.37
IGL03207:Prrc1	APN	18	57,522,389 (GRCm39)	missense	probably benign	0.19
R0226:Prrc1	UTSW	18	57,496,363 (GRCm39)	missense	probably benign
R0375:Prrc1	UTSW	18	57,495,564 (GRCm39)	missense	probably damaging	1.00
R0470:Prrc1	UTSW	18	57,496,469 (GRCm39)	missense	probably damaging	1.00
R0540:Prrc1	UTSW	18	57,507,622 (GRCm39)	missense	possibly damaging	0.50
R0607:Prrc1	UTSW	18	57,507,622 (GRCm39)	missense	possibly damaging	0.50
R1929:Prrc1	UTSW	18	57,514,718 (GRCm39)	missense	probably damaging	0.98
R2266:Prrc1	UTSW	18	57,514,718 (GRCm39)	missense	probably damaging	0.98
R2268:Prrc1	UTSW	18	57,514,718 (GRCm39)	missense	probably damaging	0.98
R2269:Prrc1	UTSW	18	57,514,718 (GRCm39)	missense	probably damaging	0.98
R4758:Prrc1	UTSW	18	57,517,320 (GRCm39)	missense	probably damaging	1.00
R4896:Prrc1	UTSW	18	57,507,626 (GRCm39)	missense	probably damaging	1.00
R4965:Prrc1	UTSW	18	57,507,622 (GRCm39)	missense	possibly damaging	0.50
R6395:Prrc1	UTSW	18	57,495,619 (GRCm39)	missense	probably null
R6534:Prrc1	UTSW	18	57,522,346 (GRCm39)	missense	probably damaging	0.99
R7514:Prrc1	UTSW	18	57,496,325 (GRCm39)	missense	probably benign	0.43
R8354:Prrc1	UTSW	18	57,504,503 (GRCm39)	missense	probably damaging	1.00
R8737:Prrc1	UTSW	18	57,496,408 (GRCm39)	missense	possibly damaging	0.67
R9042:Prrc1	UTSW	18	57,507,764 (GRCm39)	critical splice donor site	probably null
R9243:Prrc1	UTSW	18	57,496,271 (GRCm39)	missense	possibly damaging	0.75
R9246:Prrc1	UTSW	18	57,496,208 (GRCm39)	missense	probably benign	0.01
R9352:Prrc1	UTSW	18	57,522,317 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTACCGTAAACAGTATCAAGGG -3'
(R):5'- GGGCTTTGAAAACAGTCAGC -3'

Sequencing Primer
(F):5'- CTCCATAACTGTAAGCGTGATGC -3'
(R):5'- CTTTGAAAACAGTCAGCTCAGG -3'

Posted On

2014-10-16